#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_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_Transcript_Id	i_Trna_alt1	i_Trna_alt2	i_Trna_ref	i_Trna_tot	i_Trna_var	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
DHRS3	9249	bcgsc.ca	37	1	12640650	12640650	+	Silent	SNP	C	C	T	rs11540058	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr1:12640650C>T	ENST00000376223.2	-	2	623	c.240G>A	c.(238-240)acG>acA	p.T80T	DHRS3_ENST00000482265.1_5'UTR	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	80					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	GGATCTCCTCCGTCGTCTCCT	0.537													C|||	399	0.0796725	0.0446	0.0764	5008	,	,		17584	0.002		0.1918	False		,,,				2504	0.0941				p.T80T		.											.	DHRS3-91	0			c.G240A						.	C		294,4112	161.1+/-193.3	10,274,1919	74.0	71.0	72.0		240	-4.2	0.4	1	dbSNP_120	72	1781,6819	321.8+/-315.3	194,1393,2713	no	coding-synonymous	DHRS3	NM_004753.4		204,1667,4632	TT,TC,CC		20.7093,6.6727,15.9542		80/303	12640650	2075,10931	2203	4300	6503	SO:0001819	synonymous_variant	9249	exon2			CTCCTCCGTCGTC	AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	17693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 1"""	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.240G>A	1.37:g.12640650C>T		166	2		142	5	NM_004753	0	0	20	20	0	B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Silent	SNP	ENST00000376223.2	37	CCDS146.1																																																																																			C|0.868;T|0.132		0.537	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1	NM_004753	
CTBS	1486	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	85036384	85036384	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr1:85036384C>T	ENST00000370630.5	-	2	245	c.197G>A	c.(196-198)gGa>gAa	p.G66E	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	66					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		AGTTTTCTGTCCAACATCAAA	0.378																																					p.G66E		.											.	CTBS-90	0			c.G197A						.						84.0	85.0	85.0					1																	85036384		2203	4300	6503	SO:0001583	missense	1486	exon2			TTCTGTCCAACAT	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.197G>A	1.37:g.85036384C>T	ENSP00000359664:p.Gly66Glu	104	0		76	11	NM_004388	0	0	11	13	2	Q5VX50	Missense_Mutation	SNP	ENST00000370630.5	37	CCDS698.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161361	0.57368	.	.	ENSG00000117151	ENST00000370630	T	0.28069	1.63	5.59	5.59	0.84812	Chitinase II (1);Glycoside hydrolase, superfamily (1);	0.098474	0.64402	D	0.000001	T	0.14527	0.0351	M	0.67397	2.05	0.47245	D	0.999363	P	0.42735	0.788	B	0.37692	0.256	T	0.04191	-1.0970	10	0.06365	T	0.9	-15.1711	12.8695	0.57957	0.0:0.9254:0.0:0.0746	.	66	Q01459	DIAC_HUMAN	E	66	ENSP00000359664:G66E	ENSP00000359664:G66E	G	-	2	0	CTBS	84808972	1.000000	0.71417	0.968000	0.41197	0.992000	0.81027	5.905000	0.69893	2.614000	0.88457	0.561000	0.74099	GGA	.		0.378	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388	
PDE4DIP	9659	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	144930794	144930794	+	Intron	SNP	G	G	C			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr1:144930794G>C	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.S305R|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S305R|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCCTCGGGGGCTCTGGATGG	0.502			T	PDGFRB	MPD																																p.S305R		.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP-663	0			c.C915G						.																																			SO:0001627	intron_variant	9659	exon1			TCGGGGGCTCTGG	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-6973C>G	1.37:g.144930794G>C		229	1		256	48	NM_001002811	0	0	4	4	0	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023619	0.54683	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.13089	2.62;2.62	5.49	-0.336	0.12658	.	.	.	.	.	T	0.14184	0.0343	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	P	0.59703	0.862	T	0.05835	-1.0861	9	0.49607	T	0.09	.	9.1586	0.37007	0.4659:0.0:0.5341:0.0	.	305	Q5VU43-2	.	R	305	ENSP00000316434:S305R;ENSP00000433392:S305R	ENSP00000316434:S305R	S	-	3	2	PDE4DIP	143642151	0.991000	0.36638	0.998000	0.56505	0.998000	0.95712	0.181000	0.16880	-0.077000	0.12752	0.586000	0.80456	AGC	.		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
NBPF10	100132406	bcgsc.ca	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	99						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473																																					p.V99F		.											.	.	1	Substitution - Missense(1)	kidney(1)	c.G295T						.																																			SO:0001583	missense	100132406	exon3			GTCCTAGTTCACT	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.295G>T	1.37:g.145296373G>T	ENSP00000345684:p.Val99Phe	165	6		164	19	NM_001039703	0	0	1	1	0	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249076	0.22880	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.03889	3.77	1.15	-0.158	0.13383	.	.	.	.	.	T	0.03220	0.0094	M	0.72479	2.2	0.09310	N	1	.	.	.	.	.	.	T	0.38757	-0.9646	7	0.87932	D	0	.	3.0726	0.06236	0.7069:0.0:0.2931:0.0	rs3969711;rs4996270	.	.	.	F	99;24;99	ENSP00000345684:V99F	ENSP00000345684:V99F	V	+	1	0	NBPF10	144007730	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.026000	0.13895	0.121000	0.15741	GTT	G|0.700;T|0.300		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
NBPF10	100132406	bcgsc.ca	37	1	145296403	145296403	+	Silent	SNP	C	C	T	rs4996269	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr1:145296403C>T	ENST00000342960.5	+	3	360	c.325C>T	c.(325-327)Cta>Tta	p.L109L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	109						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517																																					p.L109L		.											.	.	0			c.C325T						.																																			SO:0001819	synonymous_variant	100132406	exon3			ACCCAGCTAAGGG	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.325C>T	1.37:g.145296403C>T		216	0		197	13	NM_001039703	0	0	1	99	98	Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	CCDS53355.1																																																																																			C|0.959;T|0.041		0.517	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
NBPF10	100132406	broad.mit.edu	37	1	145296448	145296448	+	Missense_Mutation	SNP	T	T	A	rs4996268		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr1:145296448T>A	ENST00000342960.5	+	3	405	c.370T>A	c.(370-372)Tat>Aat	p.Y124N	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	124						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.Y124N(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCGCTCATTGTATGAGCATCT	0.562																																					p.Y124N		.											.	.	2	Substitution - Missense(2)	kidney(2)	c.T370A						.																																			SO:0001583	missense	100132406	exon3			TCATTGTATGAGC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.370T>A	1.37:g.145296448T>A	ENSP00000345684:p.Tyr124Asn	244	1		231	18	NM_001039703	0	0	1	71	70	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.880827	0.00061	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.02552	4.25	1.04	-2.09	0.07232	.	.	.	.	.	T	0.00109	0.0003	N	0.00075	-2.25	0.09310	N	1	.	.	.	.	.	.	T	0.35351	-0.9792	7	0.02654	T	1	.	3.206	0.06666	0.3078:0.4616:0.0:0.2307	rs4996268	.	.	.	N	124;49;124	ENSP00000345684:Y124N	ENSP00000345684:Y124N	Y	+	1	0	NBPF10	144007805	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.048000	0.14078	-3.520000	0.00148	-3.904000	0.00016	TAT	T|0.750;A|0.250		0.562	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
ATF6	22926	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	161761234	161761234	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr1:161761234C>G	ENST00000367942.3	+	5	458	c.391C>G	c.(391-393)Ccc>Gcc	p.P131A		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	131	Transcription activation.				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)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	TCAGATGTCTCCCCTTTCCTT	0.388																																					p.P131A		.											.	ATF6-93	0			c.C391G						.						151.0	149.0	150.0					1																	161761234		2203	4300	6503	SO:0001583	missense	22926	exon5			ATGTCTCCCCTTT	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.391C>G	1.37:g.161761234C>G	ENSP00000356919:p.Pro131Ala	64	0		59	29	NM_007348	0	0	4	16	12	O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893367	0.72524	.	.	ENSG00000118217	ENST00000367942	T	0.57436	0.4	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.64416	0.2596	L	0.59436	1.845	0.45718	D	0.998629	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.61667	-0.7016	9	0.46703	T	0.11	-8.4841	17.7923	0.88558	0.0:1.0:0.0:0.0	.	131;132	P18850;Q59H30	ATF6A_HUMAN;.	A	131	ENSP00000356919:P131A	ENSP00000356919:P131A	P	+	1	0	ATF6	160027858	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	4.783000	0.62403	2.793000	0.96121	0.655000	0.94253	CCC	.		0.388	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348	
JMJD4	65094	hgsc.bcm.edu	37	1	227923081	227923081	+	Missense_Mutation	SNP	G	G	A	rs7419238		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr1:227923081G>A	ENST00000366758.3	-	1	31	c.32C>T	c.(31-33)gCg>gTg	p.A11V	JMJD4_ENST00000485807.1_5'Flank|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Missense_Mutation_p.A11V|SNAP47_ENST00000366759.4_5'UTR|SNAP47_ENST00000315781.5_5'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	11			A -> V (in dbSNP:rs7419238). {ECO:0000269|PubMed:14702039}.							endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				TTTCTGCCCCGCCAGCGCCTG	0.741													A|||	5008	1.0	1.0	1.0	5008	,	,		11222	1.0		1.0	False		,,,				2504	1.0				p.A11V		.											.	JMJD4-226	0			c.C32T						.	A	VAL/ALA,VAL/ALA,	4035,1		2017,1,0	6.0	7.0	7.0		32,32,	2.0	0.0	1	dbSNP_116	7	8000,0		4000,0,0	yes	missense,missense,utr-5	JMJD4,SNAP47	NM_001161465.1,NM_023007.2,NM_053052.3	64,64,	6017,1,0	AA,AG,GG		0.0,0.0248,0.0083	benign,benign,	11/448,11/464,	227923081	12035,1	2018	4000	6018	SO:0001583	missense	65094	exon1			TGCCCCGCCAGCG	AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.32C>T	1.37:g.227923081G>A	ENSP00000355720:p.Ala11Val	0	0		9	9	NM_023007	0	0	0	1	1	Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	CCDS1561.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	361|361	0.9972375690607734|0.9972375690607734	572|572	1.0|1.0	754|754	0.9947229551451188|0.9947229551451188	A|A	2.779|2.779	-0.253926|-0.253926	0.05829|0.05829	0.999752|0.999752	1.0|1.0	ENSG00000081692|ENSG00000081692	ENST00000366758|ENST00000438896	T|.	0.19806|.	2.12|.	3.58|3.58	1.99|1.99	0.26369|0.26369	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	P|P	0.0|0.0	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.27400|0.27400	-1.0075|-1.0075	8|4	0.02654|.	T|.	1|.	.|.	5.7765|5.7765	0.18281|0.18281	0.6536:0.0:0.3464:0.0|0.6536:0.0:0.3464:0.0	rs7419238;rs58641567;rs7419238|rs7419238;rs58641567;rs7419238	11;11|.	Q9H9V9-2;Q9H9V9|.	.;JMJD4_HUMAN|.	V|W	11|4	ENSP00000355720:A11V|.	ENSP00000355720:A11V|.	A|R	-|-	2|1	0|2	JMJD4|JMJD4	225989704|225989704	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.100000|-0.100000	0.10990|0.10990	-0.047000|-0.047000	0.13423|0.13423	-0.268000|-0.268000	0.10319|0.10319	GCG|CGG	G|0.002;A|0.998		0.741	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007	
SLC35F3	148641	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	234444906	234444906	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr1:234444906C>A	ENST00000366617.3	+	3	689	c.461C>A	c.(460-462)gCa>gAa	p.A154E	MIR4671_ENST00000583284.1_RNA|SLC35F3_ENST00000366618.3_Missense_Mutation_p.A223E			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	154					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TTTACCAAGGCAGCACCCTTT	0.413																																					p.A223E		.											.	SLC35F3-92	0			c.C668A						.						123.0	115.0	118.0					1																	234444906		2203	4300	6503	SO:0001583	missense	148641	exon4			CCAAGGCAGCACC		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.461C>A	1.37:g.234444906C>A	ENSP00000355576:p.Ala154Glu	106	0		110	24	NM_173508	0	0	0	0	0	Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37		.	.	.	.	.	.	.	.	.	.	C	21.4	4.143339	0.77888	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.70869	-0.52;-0.52	5.58	4.66	0.58398	.	0.208535	0.49916	D	0.000127	T	0.72293	0.3442	L	0.43152	1.355	0.42614	D	0.993326	P;D	0.53151	0.891;0.958	P;P	0.53649	0.575;0.731	T	0.73075	-0.4097	10	0.46703	T	0.11	-12.8735	13.8584	0.63545	0.0:0.9268:0.0:0.0732	.	154;223	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	E	223;154	ENSP00000355577:A223E;ENSP00000355576:A154E	ENSP00000355576:A154E	A	+	2	0	SLC35F3	232511529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.593000	0.61034	2.646000	0.89796	0.655000	0.94253	GCA	.		0.413	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508	
OR2T2	401992	bcgsc.ca	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-	rs199823862|rs372931983		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	TGCTGCG	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527																																					p.203_205del		.											.	OR2T2-23	0			c.607_613del						.			51,3755		2,47,1854						-2.5	0.6			76	261,7371		12,237,3567	no	frameshift	OR2T2	NM_001004136.1		14,284,5421	A1A1,A1R,RR		3.4198,1.34,2.7277				312,11126				SO:0001589	frameshift_variant	401992	exon1			TATGCCTGCTGCG	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.607_613delTGCTGCG	1.37:g.248616705_248616711delTGCTGCG	ENSP00000343062:p.Cys203fs	606	1		437	16	NM_001004136	0	0	0	0	0	B2RNM1|B9EH01	Frame_Shift_Del	DEL	ENST00000342927.3	37	CCDS31116.1																																																																																			.		0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136	
ITIH5	80760	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	7618777	7618777	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr10:7618777G>C	ENST00000256861.6	-	10	1695	c.1617C>G	c.(1615-1617)atC>atG	p.I539M	ITIH5_ENST00000397146.2_Missense_Mutation_p.I539M|ITIH5_ENST00000446830.2_Missense_Mutation_p.I321M|ITIH5_ENST00000298441.6_Missense_Mutation_p.I325M|ITIH5_ENST00000397145.2_Missense_Mutation_p.I539M|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	539					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCTTCAGGATGATGAATTTCT	0.572																																					p.I539M		.											.	ITIH5-92	0			c.C1617G						.						78.0	73.0	75.0					10																	7618777		2203	4300	6503	SO:0001583	missense	80760	exon10			CAGGATGATGAAT			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1617C>G	10.37:g.7618777G>C	ENSP00000256861:p.Ile539Met	194	1		205	23	NM_001001851	0	0	4	4	0	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	G	13.22	2.171560	0.38315	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	5.41	-1.49	0.08718	.	0.426302	0.27554	N	0.018860	T	0.15609	0.0376	.	.	.	0.09310	N	0.999998	B;P;P	0.52463	0.41;0.921;0.953	B;P;P	0.53360	0.149;0.534;0.724	T	0.10776	-1.0615	9	0.72032	D	0.01	-23.1454	1.4329	0.02337	0.1931:0.2108:0.3804:0.2156	.	539;539;325	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	M	539;539;325;321;539	ENSP00000256861:I539M;ENSP00000380333:I539M;ENSP00000298441:I325M;ENSP00000387969:I321M;ENSP00000380332:I539M	ENSP00000256861:I539M	I	-	3	3	ITIH5	7658783	0.166000	0.22962	0.002000	0.10522	0.538000	0.34931	0.506000	0.22658	-0.002000	0.14469	0.462000	0.41574	ATC	.		0.572	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569	
HNRNPF	3185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	43882457	43882457	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr10:43882457G>C	ENST00000544000.1	-	4	1283	c.876C>G	c.(874-876)caC>caG	p.H292Q	HNRNPF_ENST00000443950.2_Missense_Mutation_p.H292Q|HNRNPF_ENST00000356053.3_Missense_Mutation_p.H292Q|HNRNPF_ENST00000357065.4_Missense_Mutation_p.H292Q|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000337970.3_Missense_Mutation_p.H292Q	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	292	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GGCCCCTCATGTGGACACAGT	0.527																																					p.H292Q		.											.	HNRNPF-22	0			c.C876G						.						53.0	45.0	48.0					10																	43882457		2203	4300	6503	SO:0001583	missense	3185	exon4			CCTCATGTGGACA		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.876C>G	10.37:g.43882457G>C	ENSP00000438061:p.His292Gln	127	0		83	17	NM_001098204	0	1	118	150	31	B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342136	0.24339	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16	4.38	3.49	0.39957	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.21307	0.0513	M	0.73372	2.23	0.80722	D	1	P	0.39443	0.674	P	0.54210	0.745	T	0.00655	-1.1624	10	0.51188	T	0.08	-37.0318	10.9943	0.47567	0.0923:0.0:0.9077:0.0	.	292	P52597	HNRPF_HUMAN	Q	292;292;292;292;292;215	ENSP00000438061:H292Q;ENSP00000400433:H292Q;ENSP00000348345:H292Q;ENSP00000349573:H292Q;ENSP00000338477:H292Q	ENSP00000338477:H292Q	H	-	3	2	HNRNPF	43202463	1.000000	0.71417	1.000000	0.80357	0.224000	0.24922	3.529000	0.53532	1.455000	0.47813	-0.126000	0.14955	CAC	.		0.527	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2		
TBC1D12	23232	hgsc.bcm.edu	37	10	96163039	96163039	+	Silent	SNP	C	C	G	rs2477534	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr10:96163039C>G	ENST00000225235.4	+	1	779	c.669C>G	c.(667-669)ccC>ccG	p.P223P		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	223							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GGGACAGCCCCGCCAGCAGCT	0.751													G|||	3411	0.68111	0.6165	0.5648	5008	,	,		8936	0.8373		0.6342	False		,,,				2504	0.7382				p.P223P		.											.	TBC1D12-68	0			c.C669G						.	G		1895,863		709,477,193	2.0	3.0	3.0		669	-2.0	0.0	10	dbSNP_100	3	4435,1895		1664,1107,394	yes	coding-synonymous	TBC1D12	NM_015188.1		2373,1584,587	GG,GC,CC		29.9368,31.2908,30.3477		223/776	96163039	6330,2758	1379	3165	4544	SO:0001819	synonymous_variant	23232	exon1			CAGCCCCGCCAGC	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.669C>G	10.37:g.96163039C>G		2	0		35	18	NM_015188	0	0	0	1	1	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	CCDS41553.1																																																																																			C|0.339;G|0.661		0.751	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2		
SFXN4	119559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	120923681	120923681	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr10:120923681T>A	ENST00000355697.2	-	2	158	c.139A>T	c.(139-141)Aca>Tca	p.T47S	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.T47S	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	47					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		AATAATTCTGTCCATTGAAGA	0.328																																					p.T47S		.											.	SFXN4-91	0			c.A139T						.						83.0	92.0	89.0					10																	120923681		2203	4300	6503	SO:0001583	missense	119559	exon2			ATTCTGTCCATTG		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"""Sideroflexins"""	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.139A>T	10.37:g.120923681T>A	ENSP00000347924:p.Thr47Ser	224	0		358	108	NM_213649	0	0	33	54	21	Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	T	5.153	0.213818	0.09810	.	.	ENSG00000183605	ENST00000355697;ENST00000330036	T;T	0.28069	1.63;1.63	4.29	1.88	0.25563	.	0.603999	0.16470	N	0.213023	T	0.18215	0.0437	L	0.34521	1.04	0.19300	N	0.999978	B	0.17465	0.022	B	0.16722	0.016	T	0.09443	-1.0674	10	0.24483	T	0.36	-3.0776	4.3627	0.11210	0.1997:0.0:0.2075:0.5927	.	47	Q6P4A7	SFXN4_HUMAN	S	47	ENSP00000347924:T47S;ENSP00000333200:T47S	ENSP00000333200:T47S	T	-	1	0	SFXN4	120913671	0.987000	0.35691	0.976000	0.42696	0.552000	0.35366	0.146000	0.16180	1.817000	0.53016	0.369000	0.22263	ACA	.		0.328	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406	
PRDX3	10935	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	120931958	120931958	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr10:120931958C>G	ENST00000298510.2	-	5	529	c.487G>C	c.(487-489)Gac>Cac	p.D163H	PRDX3_ENST00000356951.3_Missense_Mutation_p.D145H|PRDX3_ENST00000494433.1_5'Flank	NM_006793.2	NP_006784.1	P30048	PRDX3_HUMAN	peroxiredoxin 3	163	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|maternal placenta development (GO:0001893)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of kinase activity (GO:0033673)|peptidyl-cysteine oxidation (GO:0018171)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of mitochondrial membrane potential (GO:0051881)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	alkyl hydroperoxide reductase activity (GO:0008785)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|kinase binding (GO:0019900)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|lung(2)	3		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		TTAGTTAAGTCTGACAAGAGT	0.413																																					p.D163H	Pancreas(36;562 1096 2447 42526)	.											.	PRDX3-90	0			c.G487C						.						205.0	178.0	187.0					10																	120931958		2203	4300	6503	SO:0001583	missense	10935	exon5			TTAAGTCTGACAA	D49396	CCDS7611.1	10q25-q26	2010-11-24			ENSG00000165672	ENSG00000165672			9354	protein-coding gene	gene with protein product		604769	"""antioxidant protein 1"""	AOP1		7733872, 9363753	Standard	NM_006793		Approved	MER5, AOP-1, SP-22	uc001lec.3	P30048	OTTHUMG00000019146	ENST00000298510.2:c.487G>C	10.37:g.120931958C>G	ENSP00000298510:p.Asp163His	213	0		198	64	NM_006793	0	0	824	1294	470	B2R7Z0|D3DRC9|E9PH29|P35690|Q0D2H1|Q13776|Q5T5V2|Q96HK4	Missense_Mutation	SNP	ENST00000298510.2	37	CCDS7611.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848198	0.91277	.	.	ENSG00000165672	ENST00000356951;ENST00000298510	T;T	0.63913	-0.07;-0.07	5.01	5.01	0.66863	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	D	0.89935	0.6859	H	0.99922	4.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94988	0.8132	10	0.87932	D	0	-29.4608	18.711	0.91656	0.0:1.0:0.0:0.0	.	163	P30048	PRDX3_HUMAN	H	145;163	ENSP00000349432:D145H;ENSP00000298510:D163H	ENSP00000298510:D163H	D	-	1	0	PRDX3	120921948	1.000000	0.71417	0.985000	0.45067	0.946000	0.59487	7.760000	0.85248	2.481000	0.83766	0.561000	0.74099	GAC	.		0.413	PRDX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050639.1	NM_006793	
MUC5B	727897	broad.mit.edu	37	11	1270602	1270602	+	Silent	SNP	C	C	A	rs546569767		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr11:1270602C>A	ENST00000529681.1	+	31	12550	c.12492C>A	c.(12490-12492)gcC>gcA	p.A4164A	MUC5B_ENST00000447027.1_Silent_p.A4167A|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4164	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGGAGGGGCCGTCTGTGAGC	0.677																																					p.A4164A		.											.	.	0			c.C12492A						.						13.0	18.0	17.0					11																	1270602		1336	3333	4669	SO:0001819	synonymous_variant	727897	exon31			AGGGGCCGTCTGT	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.12492C>A	11.37:g.1270602C>A		271	0		396	7	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			C|0.750;A|0.250		0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
TRIM6	117854	bcgsc.ca	37	11	5624521	5624521	+	5'UTR	SNP	A	A	C	rs61758095	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr11:5624521A>C	ENST00000278302.5	+	0	119				TRIM6_ENST00000380107.1_5'UTR|TRIM6-TRIM34_ENST00000354852.5_Silent_p.A21A|TRIM6_ENST00000507320.1_Intron|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000515022.1_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000445329.1_Intron|TRIM6_ENST00000380097.3_Silent_p.A21A	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6						protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTGGGCAGGCAGGAGCCAGGA	0.483													A|||	60	0.0119808	0.0144	0.0202	5008	,	,		19923	0.0		0.0239	False		,,,				2504	0.0031				p.A21A		.											.	TRIM6-TRIM34-45	0			c.A63C						.	A	,,,,	50,4352	51.6+/-87.1	1,48,2152	106.0	81.0	90.0		63,63,,,	-3.3	0.0	11	dbSNP_129	90	186,8408	83.1+/-145.7	2,182,4113	no	coding-synonymous,coding-synonymous,intron,intron,utr-5	TRIM6,TRIM6-TRIM34	NM_001003818.2,NM_001003819.3,NM_001198644.1,NM_001198645.1,NM_058166.4	,,,,	3,230,6265	CC,CA,AA		2.1643,1.1358,1.8159	,,,,	21/517,21/843,,,	5624521	236,12760	2201	4297	6498	SO:0001623	5_prime_UTR_variant	445372	exon2			GCAGGCAGGAGCC	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.-22A>C	11.37:g.5624521A>C		379	3		193	8	NM_001003819	0	0	2	2	0	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Silent	SNP	ENST00000278302.5	37	CCDS31390.1																																																																																			A|0.982;C|0.018		0.483	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818	
Unknown	0	bcgsc.ca	37	11	5989416	5989416	+	IGR	SNP	C	C	A			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr11:5989416C>A								OR56A3 (19825 upstream) : OR52L1 (17705 downstream)																							TGATGAACACCTGAAGGAAGC	0.517																																					p.Q103H		.											.	.	0			c.G309T						.						70.0	65.0	67.0					11																	5989416		692	1591	2283	SO:0001628	intergenic_variant	390084	exon1			GAACACCTGAAGG																													11.37:g.5989416C>A		233	0		122	6	NM_001146033	0	0	0	0	0		Missense_Mutation	SNP		37																																																																																				.	0	0.517								
OR56A1	120796	broad.mit.edu;bcgsc.ca	37	11	6048372	6048372	+	Missense_Mutation	SNP	T	T	G	rs139926831		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr11:6048372T>G	ENST00000316650.5	-	1	599	c.563A>C	c.(562-564)aAc>aCc	p.N188T		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACAGACAAGTTGGCACAGAT	0.473																																					p.N188T		.											.	OR56A1-115	0			c.A563C						.	T	THR/ASN	0,4402		0,0,2201	87.0	84.0	85.0		563	4.3	1.0	11	dbSNP_134	85	2,8590	2.2+/-6.3	0,2,4294	yes	missense	OR56A1	NM_001001917.2	65	0,2,6495	GG,GT,TT		0.0233,0.0,0.0154	probably-damaging	188/319	6048372	2,12992	2201	4296	6497	SO:0001583	missense	120796	exon1			GACAAGTTGGCAC	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.563A>C	11.37:g.6048372T>G	ENSP00000321246:p.Asn188Thr	186	2		105	5	NM_001001917	0	0	0	0	0	B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.681883	0.47991	0.0	2.33E-4	ENSG00000180934	ENST00000316650	T	0.36699	1.24	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000286	T	0.62245	0.2412	M	0.86740	2.835	0.32709	N	0.511876	D	0.71674	0.998	D	0.75020	0.985	T	0.75566	-0.3273	10	0.87932	D	0	.	11.658	0.51330	0.0:0.0:0.0:1.0	.	188	Q8NGH5	O56A1_HUMAN	T	188	ENSP00000321246:N188T	ENSP00000321246:N188T	N	-	2	0	OR56A1	6004948	0.251000	0.23961	1.000000	0.80357	0.282000	0.26991	3.266000	0.51569	1.914000	0.55421	0.533000	0.62120	AAC	T|1.000;G|0.000		0.473	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917	
CCDC73	493860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	32635661	32635661	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr11:32635661T>G	ENST00000335185.5	-	16	2246	c.2203A>C	c.(2203-2205)Atg>Ctg	p.M735L	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	735										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTCACCAACATAGACATACTA	0.343																																					p.L735L		.											.	CCDC73-91	0			c.C2203C						.						100.0	91.0	94.0					11																	32635661		1807	4073	5880	SO:0001583	missense	493860	exon16			CCAACATAGACAT	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2203A>C	11.37:g.32635661T>G	ENSP00000335325:p.Met735Leu	40	0		51	17	NM_001008391	0	0	0	0	0	Q6P5Q7|Q6ZMW0|Q86WE7	Silent	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.520771	0.00967	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.12	-5.06	0.02946	.	0.933208	0.09034	N	0.858360	T	0.26304	0.0642	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22487	-1.0215	9	0.32370	T	0.25	.	4.7878	0.13234	0.1103:0.4632:0.2254:0.201	.	735	Q6ZRK6	CCD73_HUMAN	L	735	.	ENSP00000335325:M735L	M	-	1	0	CCDC73	32592237	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.220000	0.02971	-0.916000	0.03818	-0.438000	0.05819	ATG	.		0.343	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391	
NR1H3	10062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	47282859	47282859	+	Silent	SNP	C	C	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr11:47282859C>T	ENST00000467728.1	+	4	1805	c.567C>T	c.(565-567)gcC>gcT	p.A189A	NR1H3_ENST00000441012.2_Silent_p.A189A|NR1H3_ENST00000405853.3_Silent_p.A189A|NR1H3_ENST00000407404.1_Silent_p.A189A|NR1H3_ENST00000395397.3_Silent_p.A144A|NR1H3_ENST00000527949.1_Silent_p.A98A|NR1H3_ENST00000405576.1_Silent_p.A144A|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000481889.2_Silent_p.A144A			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	189					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AGGCTCATGCCACATCCTTGC	0.587																																					p.A195A		.											.	NR1H3-228	0			c.C585T						.						65.0	62.0	63.0					11																	47282859		2201	4298	6499	SO:0001819	synonymous_variant	10062	exon5			TCATGCCACATCC	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.567C>T	11.37:g.47282859C>T		210	0		204	128	NM_001251934	0	0	6	10	4	A8K3J9|D3DQR1|Q8IW13|Q96H87	Silent	SNP	ENST00000467728.1	37	CCDS7929.1																																																																																			.		0.587	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3		
CST6	1474	hgsc.bcm.edu	37	11	65779590	65779590	+	Silent	SNP	C	C	T	rs1131544	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr11:65779590C>T	ENST00000312134.2	+	1	279	c.75C>T	c.(73-75)gaC>gaT	p.D25D		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	25					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			large_intestine(1)|lung(1)|ovary(1)	3						TGCCACGCGACGCCCGGGCCC	0.746													C|||	356	0.0710863	0.0219	0.0922	5008	,	,		12347	0.001		0.162	False		,,,				2504	0.1012				p.D25D		.											.	CST6-523	0			c.C75T						.	C		164,3936		5,154,1891	5.0	6.0	5.0		75	-4.6	0.0	11	dbSNP_86	5	1227,6867		88,1051,2908	no	coding-synonymous	CST6	NM_001323.3		93,1205,4799	TT,TC,CC		15.1594,4.0,11.4072		25/150	65779590	1391,10803	2050	4047	6097	SO:0001819	synonymous_variant	1474	exon1			ACGCGACGCCCGG	U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.75C>T	11.37:g.65779590C>T		0	0		8	6	NM_001323	0	0	0	0	0	Q540N7	Silent	SNP	ENST00000312134.2	37	CCDS8126.1																																																																																			C|0.921;T|0.079		0.746	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391348.1	NM_001323	
GAL3ST3	89792	hgsc.bcm.edu	37	11	65810209	65810209	+	Silent	SNP	C	C	T	rs61895584	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr11:65810209C>T	ENST00000312006.4	-	3	1346	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P	GAL3ST3_ENST00000527878.1_Silent_p.P355P	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	355					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGGGCTGCCACGGCTGCAGCT	0.741													C|||	3763	0.751398	0.5408	0.8746	5008	,	,		7225	0.7649		0.8549	False		,,,				2504	0.8282				p.P355P		.											.	GAL3ST3-91	0			c.G1065A						.	C		1752,666		619,514,76	3.0	2.0	2.0		1065	-9.2	0.7	11	dbSNP_129	2	4565,363		2119,327,18	no	coding-synonymous	GAL3ST3	NM_033036.2		2738,841,94	TT,TC,CC		7.3661,27.5434,14.0076		355/432	65810209	6317,1029	1209	2464	3673	SO:0001819	synonymous_variant	89792	exon3			CTGCCACGGCTGC	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.1065G>A	11.37:g.65810209C>T		0	0		5	5	NM_033036	0	0	0	0	0	Q14D05	Silent	SNP	ENST00000312006.4	37	CCDS8128.1																																																																																			C|0.233;T|0.767		0.741	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036	
OR8B3	390271	ucsc.edu	37	11	124267177	124267177	+	Missense_Mutation	SNP	T	T	C	rs507360	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr11:124267177T>C	ENST00000354597.3	-	1	87	c.71A>G	c.(70-72)cAg>cGg	p.Q24R		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	24				Q -> R (in Ref. 1; BAC06046). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAGGGGTTGCTGGAACTCTGG	0.408													C|||	4291	0.856829	0.8797	0.7983	5008	,	,		11539	0.8581		0.83	False		,,,				2504	0.8937				p.Q24R		.											.	OR8B3-70	0			c.A71G						.	C	ARG/GLN	3129,893		1486,157,368	26.0	40.0	35.0		71	2.5	0.3	11	dbSNP_129	35	6339,2147		2901,537,805	no	missense	OR8B3	NM_001005467.1	43	4387,694,1173	CC,CT,TT		25.3005,22.2029,24.3044	benign	24/314	124267177	9468,3040	2011	4243	6254	SO:0001583	missense	390271	exon1			GGTTGCTGGAACT	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.71A>G	11.37:g.124267177T>C	ENSP00000346611:p.Gln24Arg	181	6		159	35	NM_001005467	0	0	0	0	0	Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	CCDS31709.1	1773	0.8118131868131868	414	0.8414634146341463	294	0.8121546961325967	478	0.8356643356643356	587	0.7744063324538258	N	5.549	0.286093	0.10513	0.777971	0.746995	ENSG00000196661	ENST00000354597	T	0.00594	6.33	3.64	2.52	0.30459	.	0.233085	0.30686	N	0.009087	T	0.00012	0.0000	L	0.55743	1.74	0.46725	P	8.219999999999894E-4	B	0.31752	0.338	B	0.33620	0.167	T	0.01914	-1.1248	9	0.54805	T	0.06	.	9.4715	0.38844	0.0:0.0885:0.0:0.9115	rs61910862	24	Q8NGG8	OR8B3_HUMAN	R	24	ENSP00000346611:Q24R	ENSP00000346611:Q24R	Q	-	2	0	OR8B3	123772387	0.082000	0.21442	0.336000	0.25522	0.002000	0.02628	2.013000	0.40942	0.745000	0.32763	-0.303000	0.09236	CAG	T|0.188;C|0.812		0.408	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467	
LRTM2	654429	broad.mit.edu	37	12	1940199	1940199	+	Missense_Mutation	SNP	G	G	A	rs140244300	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr12:1940199G>A	ENST00000543818.1	+	4	1008	c.166G>A	c.(166-168)Ggc>Agc	p.G56S	CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.G56S|LRTM2_ENST00000543730.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.G56S	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	56	LRRNT.					integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGACTGCAGTGGCCTTGGCCT	0.637																																					p.G56S		.											.	LRTM2-135	0			c.G166A						.	G	SER/GLY,SER/GLY,SER/GLY,	3,4403	4.2+/-10.8	0,3,2200	77.0	73.0	74.0		166,166,166,	5.0	1.0	12	dbSNP_134	74	12,8588	9.1+/-34.3	0,12,4288	no	missense,missense,missense,intron	CACNA2D4,LRTM2	NM_001039029.2,NM_001163925.1,NM_001163926.1,NM_172364.4	56,56,56,	0,15,6488	AA,AG,GG		0.1395,0.0681,0.1153	probably-damaging,probably-damaging,probably-damaging,	56/371,56/371,56/371,	1940199	15,12991	2203	4300	6503	SO:0001583	missense	654429	exon4			TGCAGTGGCCTTG	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.166G>A	12.37:g.1940199G>A	ENSP00000446278:p.Gly56Ser	78	0		79	3	NM_001039029	0	0	0	0	0	A7E2U6	Missense_Mutation	SNP	ENST00000543818.1	37	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092374	0.94149	6.81E-4	0.001395	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041;ENST00000546167;ENST00000543694	D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05	5.04	5.04	0.67666	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94532	0.8239	N	0.25245	0.725	0.80722	D	1	P	0.50066	0.931	P	0.52454	0.699	D	0.92764	0.6226	10	0.13853	T	0.58	.	18.3994	0.90511	0.0:0.0:1.0:0.0	.	56	Q8N967	LRTM2_HUMAN	S	56	ENSP00000446278:G56S;ENSP00000299194:G56S;ENSP00000444737:G56S;ENSP00000438678:G56S;ENSP00000444104:G56S	ENSP00000299194:G56S	G	+	1	0	LRTM2	1810460	1.000000	0.71417	0.997000	0.53966	0.713000	0.41058	7.775000	0.85489	2.345000	0.79718	0.561000	0.74099	GGC	G|0.999;A|0.001		0.637	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1		
CNPY2	10330	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	56712211	56712211	+	5'Flank	SNP	C	C	A			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr12:56712211C>A	ENST00000273308.4	-	0	0				PAN2_ENST00000425394.2_Missense_Mutation_p.K1128N|PAN2_ENST00000548043.1_Missense_Mutation_p.K1128N|RP11-977G19.10_ENST00000549318.1_5'Flank|CNPY2_ENST00000551720.1_5'Flank|PAN2_ENST00000257931.5_Missense_Mutation_p.K1127N|PAN2_ENST00000440411.3_Missense_Mutation_p.K1124N|PAN2_ENST00000549090.1_5'UTR	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2						negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						CCCCTTGAATCTTCAGGTCTG	0.493																																					p.K1128N		.											.	PAN2-702	0			c.G3384T						.						78.0	74.0	75.0					12																	56712211		2203	4300	6503	SO:0001631	upstream_gene_variant	9924	exon25			TTGAATCTTCAGG	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330		12.37:g.56712211C>A	Exception_encountered	281	0		371	59	NM_001127460	0	0	2	2	0	B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352266	0.41700	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.44	3.63	0.41609	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.048467	0.85682	D	0.000000	T	0.28962	0.0719	N	0.25332	0.735	0.42975	D	0.994441	B;B;B	0.14012	0.003;0.003;0.009	B;B;B	0.17979	0.011;0.005;0.02	T	0.05517	-1.0880	10	0.27785	T	0.31	-23.6287	11.0818	0.48064	0.0:0.8474:0.0:0.1526	.	1127;1124;1128	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	N	1128;1124;1127;1128	ENSP00000401721:K1128N;ENSP00000388231:K1124N;ENSP00000257931:K1127N;ENSP00000449861:K1128N	ENSP00000257931:K1127N	K	-	3	2	PAN2	54998478	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.367000	0.52350	0.795000	0.33922	-0.253000	0.11424	AAG	.		0.493	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255	
GAS2L3	283431	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	101017613	101017613	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr12:101017613G>C	ENST00000539410.1	+	9	1416	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	GAS2L3_ENST00000537247.1_Missense_Mutation_p.E240Q|GAS2L3_ENST00000547754.1_Missense_Mutation_p.E344Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.E344Q			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	344					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						AAAAAGCAAAGAAAAACAGGG	0.438																																					p.E344Q		.											.	GAS2L3-227	0			c.G1030C						.						72.0	69.0	70.0					12																	101017613		2203	4300	6503	SO:0001583	missense	283431	exon10			AGCAAAGAAAAAC	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1030G>C	12.37:g.101017613G>C	ENSP00000439672:p.Glu344Gln	86	0		154	45	NM_174942	0	0	6	9	3	B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154562	0.57259	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.25250	1.85;1.85;1.81;1.85	5.71	5.71	0.89125	.	0.343384	0.28262	N	0.015983	T	0.25606	0.0623	M	0.61703	1.905	0.09310	N	1	P	0.49961	0.93	B	0.42319	0.383	T	0.32025	-0.9922	10	0.25751	T	0.34	-18.5722	9.0455	0.36345	0.0735:0.0:0.7788:0.1478	.	344	Q86XJ1	GA2L3_HUMAN	Q	344;344;240;344	ENSP00000266754:E344Q;ENSP00000448955:E344Q;ENSP00000442406:E240Q;ENSP00000439672:E344Q	ENSP00000266754:E344Q	E	+	1	0	GAS2L3	99541744	1.000000	0.71417	0.093000	0.20910	0.095000	0.18619	3.253000	0.51469	2.697000	0.92050	0.655000	0.94253	GAA	.		0.438	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942	
WBP4	11193	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	41642838	41642838	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr13:41642838A>C	ENST00000379487.3	+	5	804	c.404A>C	c.(403-405)gAg>gCg	p.E135A	WBP4_ENST00000542082.1_Missense_Mutation_p.E114A	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	135	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		ATAACCTCTGAGGGTTACCAT	0.353																																					p.E135A		.											.	WBP4-289	0			c.A404C						.						105.0	101.0	102.0					13																	41642838		2203	4300	6503	SO:0001583	missense	11193	exon5			CCTCTGAGGGTTA	AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"""formin binding protein 21"""	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.404A>C	13.37:g.41642838A>C	ENSP00000368801:p.Glu135Ala	69	0		16	11	NM_007187	0	0	1	3	2	B7Z4M2|Q32P29	Missense_Mutation	SNP	ENST00000379487.3	37	CCDS9375.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.146143	0.77888	.	.	ENSG00000120688	ENST00000379487;ENST00000542082	D;D	0.82711	-1.64;-1.64	5.41	5.41	0.78517	WW/Rsp5/WWP (6);	0.353175	0.31949	N	0.006810	D	0.82697	0.5093	L	0.41492	1.28	0.42635	D	0.99339	P;D	0.54601	0.856;0.967	P;P	0.51016	0.652;0.656	D	0.84823	0.0797	10	0.62326	D	0.03	-3.2715	14.2679	0.66133	1.0:0.0:0.0:0.0	.	114;135	B7Z4M2;O75554	.;WBP4_HUMAN	A	135;114	ENSP00000368801:E135A;ENSP00000439301:E114A	ENSP00000368801:E135A	E	+	2	0	WBP4	40540838	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.665000	0.74442	2.044000	0.60594	0.459000	0.35465	GAG	.		0.353	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044655.2	NM_007187	
RCBTB1	55213	bcgsc.ca	37	13	50123622	50123622	+	Silent	SNP	G	G	C	rs3751384	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr13:50123622G>C	ENST00000378302.2	-	9	1277	c.1017C>G	c.(1015-1017)ccC>ccG	p.P339P	RCBTB1_ENST00000546015.1_Silent_p.P339P|RCBTB1_ENST00000258646.3_Silent_p.P339P	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	339					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		ACGAGACGGCGGGAGTGGCAA	0.597													G|||	2380	0.47524	0.2632	0.6441	5008	,	,		15536	0.5149		0.6441	False		,,,				2504	0.4274				p.P339P		.											.	RCBTB1-91	0			c.C1017G						.	G		1401,3005	458.2+/-351.9	217,967,1019	67.0	53.0	58.0		1017	-10.1	0.1	13	dbSNP_107	58	5809,2791	675.5+/-403.2	1987,1835,478	no	coding-synonymous	RCBTB1	NM_018191.3		2204,2802,1497	CC,CG,GG		32.4535,31.7975,44.564		339/532	50123622	7210,5796	2203	4300	6503	SO:0001819	synonymous_variant	55213	exon9			GACGGCGGGAGTG	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.1017C>G	13.37:g.50123622G>C		188	0		69	4	NM_018191	0	0	6	6	0	Q8IY29|Q969U9	Silent	SNP	ENST00000378302.2	37	CCDS9418.1																																																																																			G|0.473;C|0.527		0.597	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191	
GPR183	1880	bcgsc.ca	37	13	99948178	99948178	+	Silent	SNP	C	C	A	rs2230342	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr13:99948178C>A	ENST00000376414.4	-	2	305	c.222G>T	c.(220-222)gtG>gtT	p.V74V	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	74					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TATCAGAAATCACCAAATTTG	0.418													C|||	1286	0.256789	0.2103	0.2421	5008	,	,		20245	0.1875		0.3748	False		,,,				2504	0.2802				p.V74V		.											.	GPR183-522	0			c.G222T						.	C	,,	1080,3326	391.4+/-328.1	133,814,1256	121.0	113.0	116.0		,222,	1.2	1.0	13	dbSNP_98	116	3211,5389	485.2+/-371.6	604,2003,1693	no	intron,coding-synonymous,intron	GPR183,UBAC2	NM_001144072.1,NM_004951.4,NM_177967.3	,,	737,2817,2949	AA,AC,CC		37.3372,24.512,32.9925	,,	,74/362,	99948178	4291,8715	2203	4300	6503	SO:0001819	synonymous_variant	1880	exon2			AGAAATCACCAAA	L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"""GPCR / Class A : Orphans"""	3128	protein-coding gene	gene with protein product	"""EBV-induced G-protein coupled receptor 2"""	605741	"""Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"""	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.222G>T	13.37:g.99948178C>A		373	1		139	7	NM_004951	0	0	0	0	0	B2R8N5|Q53F99|Q5JUH7	Silent	SNP	ENST00000376414.4	37	CCDS9492.1																																																																																			C|0.698;A|0.302		0.418	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951	
GRTP1	79774	broad.mit.edu	37	13	113980044	113980044	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr13:113980044C>A	ENST00000375431.4	-	7	927	c.853G>T	c.(853-855)Gac>Tac	p.D285Y	GRTP1_ENST00000375430.4_Missense_Mutation_p.D285Y|GRTP1_ENST00000326039.3_Missense_Mutation_p.D207Y	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	285							Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TCGCAAATGTCTGGAACGCTG	0.498																																					p.D285Y		.											.	GRTP1-90	0			c.G853T						.						109.0	106.0	107.0					13																	113980044		2203	4300	6503	SO:0001583	missense	79774	exon7			AAATGTCTGGAAC	AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.853G>T	13.37:g.113980044C>A	ENSP00000364580:p.Asp285Tyr	150	0		58	4	NM_024719	0	0	8	8	0	B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Missense_Mutation	SNP	ENST00000375431.4	37	CCDS9534.2	.	.	.	.	.	.	.	.	.	.	C	13.11	2.137980	0.37728	.	.	ENSG00000139835	ENST00000375431;ENST00000326039;ENST00000375430	T;T;T	0.25912	1.77;1.77;1.77	4.97	4.1	0.47936	Rab-GAP/TBC domain (1);	0.221270	0.44902	D	0.000419	T	0.48589	0.1508	M	0.77616	2.38	0.58432	D	0.999995	D;D	0.71674	0.988;0.998	P;P	0.61201	0.862;0.885	T	0.54886	-0.8226	10	0.66056	D	0.02	.	14.4235	0.67200	0.1486:0.8514:0.0:0.0	.	285;285	B9A6K2;Q5TC63	.;GRTP1_HUMAN	Y	285;207;285	ENSP00000364580:D285Y;ENSP00000321850:D207Y;ENSP00000364579:D285Y	ENSP00000321850:D207Y	D	-	1	0	GRTP1	113028045	1.000000	0.71417	0.035000	0.18076	0.033000	0.12548	7.018000	0.76406	1.044000	0.40200	0.462000	0.41574	GAC	.		0.498	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045882.5	NM_024719	
GAS6	2621	ucsc.edu;bcgsc.ca	37	13	114525079	114525079	+	Silent	SNP	G	G	A	rs34975371	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr13:114525079G>A	ENST00000327773.6	-	14	1880	c.1734C>T	c.(1732-1734)acC>acT	p.T578T	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Silent_p.T621T|GAS6_ENST00000418959.3_Silent_p.T279T|GAS6_ENST00000450766.1_Silent_p.T305T|GAS6_ENST00000355761.4_Silent_p.T524T	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	621	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				TCAGCGAGACGGTGACCACGT	0.682													G|||	120	0.0239617	0.0008	0.0375	5008	,	,		17576	0.0		0.0656	False		,,,				2504	0.0276				p.T578T		.											.	GAS6-650	0			c.C1734T						.	G	,,	34,4352		0,34,2159	46.0	30.0	35.0		1734,915,837	-5.6	0.0	13	dbSNP_126	35	410,8170		14,382,3894	no	coding-synonymous,coding-synonymous,coding-synonymous	GAS6	NM_000820.2,NM_001143945.1,NM_001143946.1	,,	14,416,6053	AA,AG,GG		4.7786,0.7752,3.4243	,,	578/679,305/406,279/380	114525079	444,12522	2193	4290	6483	SO:0001819	synonymous_variant	2621	exon14			CGAGACGGTGACC		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.1734C>T	13.37:g.114525079G>A		143	1		49	5	NM_000820	0	0	10	10	0	B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Silent	SNP	ENST00000327773.6	37	CCDS45072.1																																																																																			G|0.968;A|0.032		0.682	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820	
TOMM20L	387990	bcgsc.ca	37	14	58863051	58863051	+	Missense_Mutation	SNP	G	G	A	rs140260851	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr14:58863051G>A	ENST00000360945.2	+	2	214	c.172G>A	c.(172-174)Ggc>Agc	p.G58S	RP11-517O13.1_ENST00000556734.1_RNA|RP11-517O13.3_ENST00000556390.1_RNA	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	58					protein targeting (GO:0006605)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)				large_intestine(2)|lung(2)	4						TGAGGAGCAGGGCACGCAGGT	0.647													G|||	14	0.00279553	0.0	0.0029	5008	,	,		13934	0.0		0.0119	False		,,,				2504	0.0				p.G58S		.											.	TOMM20L-90	0			c.G172A						.	G	SER/GLY	8,4398	12.9+/-30.5	0,8,2195	64.0	58.0	60.0		172	1.8	0.0	14	dbSNP_134	60	106,8494	57.2+/-118.5	0,106,4194	yes	missense	TOMM20L	NM_207377.2	56	0,114,6389	AA,AG,GG		1.2326,0.1816,0.8765	possibly-damaging	58/153	58863051	114,12892	2203	4300	6503	SO:0001583	missense	387990	exon2			GAGCAGGGCACGC		CCDS9734.1	14q23.1	2009-01-14			ENSG00000196860	ENSG00000196860			33752	protein-coding gene	gene with protein product	"""translocase of outer mitochondrial membrane 20 homolog type I"""					15733919	Standard	NM_207377		Approved	UNQ9438	uc001xdr.1	Q6UXN7	OTTHUMG00000140323	ENST00000360945.2:c.172G>A	14.37:g.58863051G>A	ENSP00000354204:p.Gly58Ser	332	1		223	7	NM_207377	0	0	0	0	0	B2RPR0	Missense_Mutation	SNP	ENST00000360945.2	37	CCDS9734.1	9	0.004120879120879121	0	0.0	1	0.0027624309392265192	0	0.0	8	0.010554089709762533	G	15.96	2.985614	0.53934	0.001816	0.012326	ENSG00000196860	ENST00000360945	T	0.39592	1.07	3.76	1.84	0.25277	Mitochondrial outer membrane translocase complex, subunit Tom20 domain (2);	0.614486	0.13336	N	0.395523	T	0.26231	0.0640	L	0.48986	1.54	0.09310	N	1	B	0.27882	0.192	B	0.32342	0.144	T	0.24297	-1.0164	10	0.21014	T	0.42	0.3264	6.2668	0.20932	0.0:0.2071:0.5791:0.2138	.	58	Q6UXN7	TO20L_HUMAN	S	58	ENSP00000354204:G58S	ENSP00000354204:G58S	G	+	1	0	TOMM20L	57932804	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.587000	0.23909	0.245000	0.21373	-0.302000	0.09304	GGC	G|0.993;A|0.007		0.647	TOMM20L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276937.1	NM_207377	
SERPINA1	5265	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	94845822	94845822	+	Silent	SNP	C	C	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr14:94845822C>T	ENST00000448921.1	-	6	1616	c.1044G>A	c.(1042-1044)gaG>gaA	p.E348E	SERPINA1_ENST00000449399.3_Silent_p.E348E|SERPINA1_ENST00000402629.1_Silent_p.E348E|SERPINA1_ENST00000437397.1_Silent_p.E348E|SERPINA1_ENST00000355814.4_Silent_p.E348E|SERPINA1_ENST00000440909.1_Silent_p.E348E|SERPINA1_ENST00000393087.4_Silent_p.E348E|SERPINA1_ENST00000393088.4_Silent_p.E348E|SERPINA1_ENST00000404814.4_Silent_p.E348E	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	348					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCAGGGGTGCCTCCTCTGTGA	0.562																																					p.E348E		.											.	SERPINA1-226	0			c.G1044A						.						117.0	109.0	112.0					14																	94845822		2203	4300	6503	SO:0001819	synonymous_variant	5265	exon6			GGGTGCCTCCTCT	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.1044G>A	14.37:g.94845822C>T		131	0		92	37	NM_001127701	0	0	2	2	0	A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	ENST00000448921.1	37	CCDS9925.1																																																																																			.		0.562	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235	
MAGEL2	54551	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	23890728	23890728	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr15:23890728C>T	ENST00000532292.1	-	1	447	c.353G>A	c.(352-354)tGc>tAc	p.C118Y		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGAGGCCCTGCATTCTCCTGA	0.602																																					p.C721Y		.											.	.	0			c.G2162A						.						21.0	22.0	22.0					15																	23890728		1866	4102	5968	SO:0001583	missense	54551	exon1			GCCCTGCATTCTC	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.353G>A	15.37:g.23890728C>T	ENSP00000433433:p.Cys118Tyr	97	1		93	35	NM_019066	0	0	0	0	0		Missense_Mutation	SNP	ENST00000532292.1	37		.	.	.	.	.	.	.	.	.	.	c	3.173	-0.169529	0.06461	.	.	ENSG00000254585	ENST00000532292	T	0.04156	3.69	3.75	-0.515	0.11954	.	.	.	.	.	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.49570	-0.8926	6	.	.	.	.	5.924	0.19099	0.1939:0.49:0.316:0.0	.	.	.	.	T	150	ENSP00000433433:A150T	.	A	-	1	0	MAGEL2	21441821	0.000000	0.05858	0.246000	0.24233	0.012000	0.07955	0.494000	0.22467	-0.078000	0.12730	-1.122000	0.02009	GCA	.		0.602	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066	
LTK	4058	hgsc.bcm.edu	37	15	41803754	41803754	+	Missense_Mutation	SNP	G	G	A	rs55739813	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr15:41803754G>A	ENST00000263800.6	-	6	776	c.680C>T	c.(679-681)cCg>cTg	p.P227L	LTK_ENST00000453182.2_Missense_Mutation_p.P227L|LTK_ENST00000355166.5_Missense_Mutation_p.P227L|LTK_ENST00000561619.1_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	227					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CACCAGCAACGGTTCCAGCTC	0.736										TSP Lung(18;0.14)			G|||	160	0.0319489	0.0038	0.0692	5008	,	,		8690	0.0119		0.0517	False		,,,				2504	0.044				p.P227L		.											.	LTK-1377	0			c.C680T						.	G	LEU/PRO,LEU/PRO,LEU/PRO	29,3047		0,29,1509	5.0	6.0	6.0		680,680,680	2.9	1.0	15	dbSNP_129	6	336,6434		4,328,3053	yes	missense,missense,missense	LTK	NM_001135685.1,NM_002344.5,NM_206961.3	98,98,98	4,357,4562	AA,AG,GG		4.9631,0.9428,3.7071	probably-damaging,probably-damaging,probably-damaging	227/735,227/865,227/804	41803754	365,9481	1538	3385	4923	SO:0001583	missense	4058	exon6			AGCAACGGTTCCA	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.680C>T	15.37:g.41803754G>A	ENSP00000263800:p.Pro227Leu	0	0		6	6	NM_001135685	0	0	0	0	0	A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	CCDS10077.1	80	0.03663003663003663	8	0.016260162601626018	26	0.0718232044198895	7	0.012237762237762238	39	0.051451187335092345	G	17.32	3.359770	0.61403	0.009428	0.049631	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.40476	1.03;1.03;1.03	3.86	2.94	0.34122	.	.	.	.	.	T	0.09512	0.0234	M	0.62016	1.91	0.39097	D	0.961214	P;P;D	0.89917	0.658;0.606;1.0	B;B;D	0.97110	0.164;0.102;1.0	T	0.26052	-1.0114	9	0.87932	D	0	.	10.0097	0.41979	0.1032:0.0:0.8968:0.0	rs55739813	227;227;227	E9PFX4;P29376-4;P29376	.;.;LTK_HUMAN	L	227	ENSP00000347293:P227L;ENSP00000263800:P227L;ENSP00000392196:P227L	ENSP00000263800:P227L	P	-	2	0	LTK	39591046	1.000000	0.71417	0.999000	0.59377	0.333000	0.28666	5.205000	0.65186	0.603000	0.29913	0.455000	0.32223	CCG	G|0.962;A|0.038		0.736	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2		
C2CD4B	388125	broad.mit.edu	37	15	62457083	62457083	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr15:62457083C>T	ENST00000380392.3	-	2	229	c.101G>A	c.(100-102)tGc>tAc	p.C34Y		NM_001007595.2	NP_001007596.2	A6NLJ0	C2C4B_HUMAN	C2 calcium-dependent domain containing 4B	34						focal adhesion (GO:0005925)|nucleolus (GO:0005730)				skin(1)	1						CGGCGGGATGCAGAATTCGGG	0.711																																					p.C34Y		.											.	C2CD4B-68	0			c.G101A						.						3.0	5.0	5.0					15																	62457083		2022	4005	6027	SO:0001583	missense	388125	exon2			GGGATGCAGAATT	BM023530	CCDS32259.1	15q22.2	2009-09-28	2009-09-28	2009-09-28					33628	protein-coding gene	gene with protein product	"""nuclear localized factor 2"""	610344	"""family with sequence similarity 148, member B"""	FAM148B			Standard	NM_001007595		Approved	NLF2	uc002ahg.2	A6NLJ0		ENST00000380392.3:c.101G>A	15.37:g.62457083C>T	ENSP00000369755:p.Cys34Tyr	9	0		14	2	NM_001007595	0	0	1	1	0		Missense_Mutation	SNP	ENST00000380392.3	37	CCDS32259.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340431	0.60963	.	.	ENSG00000205502	ENST00000380392	D	0.92495	-3.05	4.05	3.11	0.35812	.	0.057070	0.64402	U	0.000001	D	0.94683	0.8285	M	0.76328	2.33	0.47065	D	0.999305	D	0.55172	0.97	D	0.64144	0.922	D	0.94295	0.7532	10	0.56958	D	0.05	.	12.2969	0.54852	0.1709:0.8291:0.0:0.0	.	34	A6NLJ0	C2C4B_HUMAN	Y	34	ENSP00000369755:C34Y	ENSP00000369755:C34Y	C	-	2	0	C2CD4B	60244375	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	0.658000	0.24979	1.013000	0.39391	0.462000	0.41574	TGC	.		0.711	C2CD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416117.1	NM_001007595	
SKOR1	390598	hgsc.bcm.edu	37	15	68120014	68120014	+	Silent	SNP	C	C	T	rs62015251	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr15:68120014C>T	ENST00000380035.2	+	2	1906	c.1848C>T	c.(1846-1848)taC>taT	p.Y616Y	SKOR1_ENST00000554054.1_Silent_p.Y588Y|SKOR1_ENST00000389002.1_Silent_p.Y572Y|SKOR1_ENST00000554240.1_Silent_p.Y577Y|SKOR1_ENST00000341418.5_Silent_p.Y556Y			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	616					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GGGAGGCGTACGGCGCGGGGC	0.716													C|||	430	0.0858626	0.0106	0.121	5008	,	,		9530	0.1101		0.1193	False		,,,				2504	0.1033				p.Y556Y		.											.	SKOR1-90	0			c.C1668T						.	C		62,3022		0,62,1480	3.0	4.0	4.0		1716	-1.9	0.1	15	dbSNP_129	4	460,5730		9,442,2644	no	coding-synonymous	SKOR1	NM_001031807.1		9,504,4124	TT,TC,CC		7.4313,2.0104,5.6286		572/922	68120014	522,8752	1542	3095	4637	SO:0001819	synonymous_variant	390598	exon7			GGCGTACGGCGCG		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.1848C>T	15.37:g.68120014C>T		0	0		8	8	NM_001258024	0	0	0	0	0	A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37																																																																																				C|0.908;T|0.092		0.716	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807	
DECR2	26063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	455024	455024	+	Splice_Site	SNP	G	G	A	rs201409624		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr16:455024G>A	ENST00000219481.5	+	2	287	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	DECR2_ENST00000424398.2_Splice_Site_p.R50Q|DECR2_ENST00000397710.1_Splice_Site_p.R50Q	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	50					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				ATTTTCATGCGGTGAGACTGC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		16123	0.001		0.0	False		,,,				2504	0.0				p.R50Q		.											.	DECR2-90	0			c.G149A						.						173.0	159.0	164.0					16																	455024		2202	4300	6502	SO:0001630	splice_region_variant	26063	exon2			TCATGCGGTGAGA	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2754	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 17C, member 1"""	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.149+1G>A	16.37:g.455024G>A		127	0		105	18	NM_020664	0	0	1	6	5	Q6ZRS7|Q96ET0	Missense_Mutation	SNP	ENST00000219481.5	37	CCDS10409.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.9	4.469672	0.84533	.	.	ENSG00000242612	ENST00000219481;ENST00000397710;ENST00000424398	T;T	0.40476	1.03;1.03	4.45	4.45	0.53987	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.53530	0.1802	L	0.39467	1.215	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.46992	-0.9151	10	0.24483	T	0.36	.	15.692	0.77461	0.0:0.0:1.0:0.0	.	50	Q9NUI1	DECR2_HUMAN	Q	50	ENSP00000219481:R50Q;ENSP00000400374:R50Q	ENSP00000219481:R50Q	R	+	2	0	DECR2	395025	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	8.426000	0.90273	2.031000	0.59945	0.655000	0.94253	CGG	G|0.999;A|0.000		0.552	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664	Missense_Mutation
ZNF646	9726	broad.mit.edu	37	16	31092943	31092943	+	Silent	SNP	T	T	C	rs200049061		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr16:31092943T>C	ENST00000394979.2	+	1	5721	c.5298T>C	c.(5296-5298)tgT>tgC	p.C1766C	ZNF646_ENST00000300850.5_Silent_p.C1766C			O15015	ZN646_HUMAN	zinc finger protein 646	1766					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)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCCCCCATTGTCCCCGCCACT	0.697																																					p.C1766C		.											.	ZNF646-153	0			c.T5298C						.																																			SO:0001819	synonymous_variant	9726	exon2			CCATTGTCCCCGC	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.5298T>C	16.37:g.31092943T>C		28	4		62	25	NM_014699	0	0	5	5	0	Q8IVD8	Silent	SNP	ENST00000394979.2	37																																																																																				.		0.697	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699	
ZFPM1	161882	hgsc.bcm.edu	37	16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-	rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	1	0		15	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
SPIRE2	84501	broad.mit.edu	37	16	89917049	89917049	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr16:89917049delG	ENST00000378247.3	+	3	669	c.626delG	c.(625-627)aggfs	p.R209fs	SPIRE2_ENST00000393062.2_Frame_Shift_Del_p.R209fs	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	209					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TTCCTGGCCAGGGTCCGGGAG	0.746																																					p.R209fs		.											.	SPIRE2-90	0			c.626delG						.						2.0	2.0	2.0					16																	89917049		1385	3125	4510	SO:0001589	frameshift_variant	84501	exon3			TGGCCAGGGTCCG	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.626delG	16.37:g.89917049delG	ENSP00000367494:p.Arg209fs	10	0		6	2	NM_032451	0	0	0	0	0	A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Frame_Shift_Del	DEL	ENST00000378247.3	37	CCDS32516.1																																																																																			.		0.746	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462	
FBXW10	10517	bcgsc.ca	37	17	18653070	18653070	+	Missense_Mutation	SNP	G	G	A	rs9895749	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr17:18653070G>A	ENST00000395665.4	+	3	927	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	FBXW10_ENST00000395667.1_Missense_Mutation_p.E236K|FBXW10_ENST00000301938.4_Missense_Mutation_p.E236K|FBXW10_ENST00000308799.4_Missense_Mutation_p.E236K			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	236				E -> K (in Ref. 2; CAB66756). {ECO:0000305}.						NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GTGTATATCCGAAATGAATAG	0.473																																					p.E236K		.											.	FBXW10-91	0			c.G706A						.	G	LYS/GLU	1325,3081		44,1237,922	144.0	118.0	127.0		706	1.5	0.1	17	dbSNP_119	127	3457,5143		498,2461,1341	no	missense	FBXW10	NM_031456.3	56	542,3698,2263	AA,AG,GG		40.1977,30.0726,36.7676	probably-damaging	236/1052	18653070	4782,8224	2203	4300	6503	SO:0001583	missense	10517	exon3			ATATCCGAAATGA	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.706G>A	17.37:g.18653070G>A	ENSP00000379025:p.Glu236Lys	401	1		304	8	NM_001267585	0	0	0	0	0	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	CCDS11199.3	768	0.3516483516483517	151	0.30691056910569103	136	0.3756906077348066	155	0.270979020979021	326	0.43007915567282323	G	13.41	2.228790	0.39399	0.300726	0.401977	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	2.49	1.48	0.22813	.	0.437341	0.16220	N	0.224080	T	0.00012	0.0000	M	0.63428	1.95	0.80722	P	0.0	B;B;B;B	0.27416	0.178;0.178;0.111;0.108	B;B;B;B	0.23018	0.043;0.043;0.019;0.024	T	0.40346	-0.9568	9	0.62326	D	0.03	.	5.1562	0.15036	0.1795:0.0:0.8205:0.0	rs9895749	236;236;236;236	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	K	236	ENSP00000379026:E236K;ENSP00000310382:E236K;ENSP00000306937:E236K;ENSP00000379025:E236K	ENSP00000306937:E236K	E	+	1	0	FBXW10	18593795	0.661000	0.27430	0.129000	0.21949	0.040000	0.13550	0.490000	0.22403	0.368000	0.24481	0.405000	0.27470	GAA	G|0.630;A|0.370		0.473	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456	
FBXW10	10517	ucsc.edu	37	17	18682505	18682505	+	Missense_Mutation	SNP	T	T	C	rs1024657	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr17:18682505T>C	ENST00000395665.4	+	14	3274	c.3053T>C	c.(3052-3054)gTc>gCc	p.V1018A	FBXW10_ENST00000395667.1_Missense_Mutation_p.V1017A|TVP23B_ENST00000476139.1_5'Flank|FBXW10_ENST00000301938.4_Missense_Mutation_p.V965A|TVP23B_ENST00000574226.1_5'Flank|TVP23B_ENST00000307767.8_5'Flank|FBXW10_ENST00000308799.4_Missense_Mutation_p.V1027A			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	1018								p.V1017A(1)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CCAGGAAAAGTCAGCAAAGCT	0.488													N|||	744	0.148562	0.1846	0.2147	5008	,	,		13486	0.0903		0.2018	False		,,,				2504	0.0583				p.V1018A		.											.	FBXW10-91	1	Substitution - Missense(1)	prostate(1)	c.T3053C						.						42.0	40.0	41.0					17																	18682505		1906	3581	5487	SO:0001583	missense	10517	exon14			GAAAAGTCAGCAA	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.3053T>C	17.37:g.18682505T>C	ENSP00000379025:p.Val1018Ala	407	0		75	11	NM_001267585	0	0	0	5	5	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	CCDS11199.3	498	0.22802197802197802	92	0.18699186991869918	107	0.2955801104972376	65	0.11363636363636363	234	0.3087071240105541	C	0.015	-1.557317	0.00910	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	3.38	2.36	0.29203	.	0.000000	0.31936	N	0.006834	T	0.00012	0.0000	N	0.00128	-2.045	0.58432	P	1.0000000000287557E-6	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.24693	-1.0153	9	0.02654	T	1	.	4.0906	0.09968	0.4063:0.4743:0.0:0.1194	.	965;1027;1018;1017	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	A	1017;1027;965;1018	ENSP00000379026:V1017A;ENSP00000310382:V1027A;ENSP00000306937:V965A;ENSP00000379025:V1018A	ENSP00000306937:V965A	V	+	2	0	FBXW10	18623230	0.407000	0.25352	0.286000	0.24833	0.737000	0.42083	0.661000	0.25023	0.116000	0.18110	-0.473000	0.04963	GTC	T|0.777;C|0.223		0.488	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456	
SLFN5	162394	broad.mit.edu	37	17	33586498	33586498	+	Silent	SNP	T	T	C			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr17:33586498T>C	ENST00000299977.4	+	2	937	c.789T>C	c.(787-789)ccT>ccC	p.P263P	SLFN5_ENST00000542451.1_Silent_p.P263P|SLFN5_ENST00000592325.1_Silent_p.P263P	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	263					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AGAAGCTACCTGTCCATCATT	0.433																																					p.P263P		.											.	SLFN5-92	0			c.T789C						.						134.0	135.0	134.0					17																	33586498		2203	4300	6503	SO:0001819	synonymous_variant	162394	exon2			GCTACCTGTCCAT	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.789T>C	17.37:g.33586498T>C		205	0		111	4	NM_144975	0	0	7	7	0	Q08AF2|Q8WU54|Q96A82	Silent	SNP	ENST00000299977.4	37	CCDS32619.1																																																																																			.		0.433	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975	
BRCA1	672	bcgsc.ca	37	17	41234470	41234470	+	Silent	SNP	A	A	G	rs397509161|rs1060915	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr17:41234470A>G	ENST00000357654.3	-	12	4426	c.4308T>C	c.(4306-4308)tcT>tcC	p.S1436S	BRCA1_ENST00000491747.2_Silent_p.S333S|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Silent_p.S333S|BRCA1_ENST00000493795.1_Silent_p.S1389S|BRCA1_ENST00000354071.3_Silent_p.S1436S|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Silent_p.S253S|BRCA1_ENST00000309486.4_Silent_p.S1140S|BRCA1_ENST00000352993.3_Silent_p.S294S|BRCA1_ENST00000471181.2_Silent_p.S1436S|BRCA1_ENST00000346315.3_Silent_p.S1436S	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1436					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CAAGGGCAGAAGAGTCACTTA	0.448			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			A|||	1684	0.336262	0.1596	0.3646	5008	,	,		20402	0.371		0.3579	False		,,,				2504	0.4969				p.S1436S		.	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	.	BRCA1-3415	0			c.T4308C	GRCh37	CD086610	BRCA1	D	rs1060915	.	A	,,,,	832,3574	328.8+/-300.7	77,678,1448	232.0	201.0	212.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	4308,4167,999,999,4308	0.3	0.0	17	dbSNP_86	212	2804,5796	444.4+/-360.7	446,1912,1942	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BRCA1	NM_007294.3,NM_007297.3,NM_007298.3,NM_007299.3,NM_007300.3	,,,,	523,2590,3390	GG,GA,AA		32.6047,18.8833,27.9563	,,,,	1436/1864,1389/1817,333/760,333/700,1436/1885	41234470	3636,9370	2203	4300	6503	SO:0001819	synonymous_variant	672	exon12	Familial Cancer Database		GGCAGAAGAGTCA	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4308T>C	17.37:g.41234470A>G		244	0		65	5	NM_007300	0	0	5	5	0	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	37	CCDS11453.1	663	0.30357142857142855	63	0.12804878048780488	139	0.3839779005524862	189	0.3304195804195804	272	0.35883905013192613	A	7.064	0.566994	0.13560	0.188833	0.326047	ENSG00000012048	ENST00000461574	.	.	.	5.26	0.257	0.15574	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.44636	-0.9315	3	.	.	.	.	2.9468	0.05848	0.3693:0.0:0.2857:0.345	rs1060915;rs2229039;rs3201861;rs3737558;rs4986843;rs8176184;rs17434734;rs17739641;rs58905919;rs1060915	.	.	.	P	201	.	.	L	-	2	0	BRCA1	38487996	0.000000	0.05858	0.000000	0.03702	0.190000	0.23558	-0.119000	0.10676	0.129000	0.18514	0.533000	0.62120	CTT	A|0.713;G|0.287		0.448	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	
GPATCH8	23131	ucsc.edu;bcgsc.ca	37	17	42475983	42475983	+	Silent	SNP	G	G	C	rs936019	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr17:42475983G>C	ENST00000591680.1	-	8	3492	c.3462C>G	c.(3460-3462)acC>acG	p.T1154T	GPATCH8_ENST00000434000.1_Silent_p.T1076T	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1154							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGGGCTTTCGGGTAGCTGGGA	0.562													G|||	2462	0.491613	0.4009	0.5937	5008	,	,		18050	0.497		0.6014	False		,,,				2504	0.4233				p.T1154T		.											.	GPATCH8-94	0			c.C3462G						.	G		1816,2588	505.6+/-366.2	383,1050,769	134.0	140.0	138.0		3462	1.7	1.0	17	dbSNP_86	138	5354,3246	638.5+/-399.3	1659,2036,605	no	coding-synonymous	GPATCH8	NM_001002909.2		2042,3086,1374	CC,CG,GG		37.7442,41.2352,44.8631		1154/1503	42475983	7170,5834	2202	4300	6502	SO:0001819	synonymous_variant	23131	exon8			CTTTCGGGTAGCT	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3462C>G	17.37:g.42475983G>C		76	0		43	4	NM_001002909	0	0	4	4	0	B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	CCDS32666.1																																																																																			G|0.435;C|0.565		0.562	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909	
GAA	2548	bcgsc.ca	37	17	78091405	78091405	+	Missense_Mutation	SNP	G	G	A	rs1126690	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr17:78091405G>A	ENST00000302262.3	+	17	2557	c.2338G>A	c.(2338-2340)Gta>Ata	p.V780I	GAA_ENST00000390015.3_Missense_Mutation_p.V780I	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	780			V -> I (in dbSNP:rs1126690). {ECO:0000269|PubMed:2111708, ECO:0000269|PubMed:2268276, ECO:0000269|PubMed:3049072, ECO:0000269|PubMed:7717400, ECO:0000269|Ref.5}.		cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CCAGGTGCCAGTAGAGGCCCT	0.682													A|||	3565	0.711861	0.7156	0.5519	5008	,	,		16814	0.6498		0.7624	False		,,,				2504	0.8323				p.V780I		.											.	GAA-91	0			c.G2338A						.	A	ILE/VAL,ILE/VAL,ILE/VAL	3087,1319	417.4+/-337.9	1093,901,209	49.0	49.0	49.0		2338,2338,2338	-2.1	0.0	17	dbSNP_86	49	6446,2150	351.1+/-328.1	2413,1620,265	yes	missense,missense,missense	GAA	NM_000152.3,NM_001079803.1,NM_001079804.1	29,29,29	3506,2521,474	AA,AG,GG		25.0116,29.9365,26.6805	benign,benign,benign	780/953,780/953,780/953	78091405	9533,3469	2203	4298	6501	SO:0001583	missense	2548	exon18			GTGCCAGTAGAGG		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.2338G>A	17.37:g.78091405G>A	ENSP00000305692:p.Val780Ile	160	0		143	5	NM_001079803	0	0	0	0	0	Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	CCDS32760.1	1515	0.6936813186813187	354	0.7195121951219512	205	0.5662983425414365	380	0.6643356643356644	576	0.7598944591029023	A	0.485	-0.878283	0.02550	0.700635	0.749884	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.89875	-2.58;-2.58	4.12	-2.09	0.07232	.	1.354520	0.05220	N	0.508455	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B	0.06786	0.001	B	0.08055	0.003	T	0.36359	-0.9751	9	0.18276	T	0.48	-1.6299	5.9651	0.19320	0.3836:0.1344:0.482:0.0	rs1126690;rs1800313;rs2229226;rs3176968;rs3181855;rs11540430;rs17410595;rs58045900;rs1126690	780	P10253	LYAG_HUMAN	I	780	ENSP00000305692:V780I;ENSP00000374665:V780I	ENSP00000305692:V780I	V	+	1	0	GAA	75706000	0.000000	0.05858	0.008000	0.14137	0.212000	0.24457	-0.389000	0.07342	-0.561000	0.06094	-1.305000	0.01319	GTA	G|0.277;A|0.723		0.682	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1		
DSG1	1828	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	28918353	28918353	+	Silent	SNP	A	A	G			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr18:28918353A>G	ENST00000257192.4	+	10	1553	c.1341A>G	c.(1339-1341)aaA>aaG	p.K447K		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	447	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGAAAAATAAAGTTACCAAGG	0.333																																					p.K447K		.											.	DSG1-519	0			c.A1341G						.						79.0	79.0	79.0					18																	28918353		2203	4299	6502	SO:0001819	synonymous_variant	1828	exon10			AAATAAAGTTACC	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1341A>G	18.37:g.28918353A>G		311	1		273	112	NM_001942	0	0	0	0	0	B7Z845	Silent	SNP	ENST00000257192.4	37	CCDS11896.1																																																																																			.		0.333	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942	
MEX3C	51320	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	18	48723211	48723211	+	Intron	SNP	C	C	G			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr18:48723211C>G	ENST00000591040.1	-	2	43				MEX3C_ENST00000592416.1_5'Flank			Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		ACCCCAGGGACCCGCCCGGGA	0.751																																					p.G160G		.											.	MEX3C-659	0			c.G480C						.						13.0	17.0	15.0					18																	48723211		1401	3025	4426	SO:0001627	intron_variant	51320	exon1			CAGGGACCCGCCC	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000591040.1:c.757-19265G>C	18.37:g.48723211C>G		21	0		32	16	NM_016626	0	0	0	0	0	A1L022|Q9NZE3	Silent	SNP	ENST00000591040.1	37																																																																																				.		0.751	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000449559.1	NM_016626	
ODF3L2	284451	hgsc.bcm.edu	37	19	464080	464080	+	Missense_Mutation	SNP	C	C	T	rs76592524	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:464080C>T	ENST00000315489.4	-	4	869	c.634G>A	c.(634-636)Gca>Aca	p.A212T	ODF3L2_ENST00000382696.3_Missense_Mutation_p.A176T	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	212	Pro-rich.					cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						TAGGTGTTTGCGTCCGGGCTG	0.761													c|||	141	0.028155	0.0772	0.0115	5008	,	,		8891	0.0		0.0209	False		,,,				2504	0.0102				p.A212T		.											.	ODF3L2-68	0			c.G634A						.	C	THR/ALA	235,3897		7,221,1838	6.0	7.0	7.0		634	2.7	1.0	19	dbSNP_131	7	183,7779		1,181,3799	yes	missense	ODF3L2	NM_182577.2	58	8,402,5637	TT,TC,CC		2.2984,5.6873,3.4563	benign	212/290	464080	418,11676	2066	3981	6047	SO:0001583	missense	284451	exon4			TGTTTGCGTCCGG	AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 19"""	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.634G>A	19.37:g.464080C>T	ENSP00000318029:p.Ala212Thr	1	0		22	16	NM_182577	0	0	0	0	0	Q3SX65|Q8N1L2	Missense_Mutation	SNP	ENST00000315489.4	37	CCDS12027.1	67	0.030677655677655676	45	0.09146341463414634	4	0.011049723756906077	0	0.0	18	0.023746701846965697	C	10.93	1.489764	0.26686	0.056873	0.022984	ENSG00000181781	ENST00000315489;ENST00000382696	T;T	0.30182	1.54;1.54	3.81	2.74	0.32292	.	0.117336	0.64402	D	0.000018	T	0.00496	0.0016	N	0.08118	0	0.25934	N	0.982953	B;B	0.22800	0.021;0.075	B;B	0.18561	0.003;0.022	T	0.16070	-1.0415	10	0.19147	T	0.46	-11.8847	11.3724	0.49708	0.0:0.1897:0.8103:0.0	.	176;212	Q3SX64-2;Q3SX64	.;OD3L2_HUMAN	T	212;176	ENSP00000318029:A212T;ENSP00000372143:A176T	ENSP00000318029:A212T	A	-	1	0	ODF3L2	415080	1.000000	0.71417	0.987000	0.45799	0.058000	0.15608	5.564000	0.67359	0.718000	0.32166	-0.281000	0.10026	GCA	C|0.969;T|0.031		0.761	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451849.2	NM_182577	
ABCA7	10347	hgsc.bcm.edu	37	19	1065044	1065044	+	Silent	SNP	C	C	T	rs4147935	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:1065044C>T	ENST00000263094.6	+	46	6390	c.6159C>T	c.(6157-6159)ggC>ggT	p.G2053G	ABCA7_ENST00000433129.1_Silent_p.G2053G|HMHA1_ENST00000590214.1_5'Flank|ABCA7_ENST00000435683.2_Silent_p.G1915G|HMHA1_ENST00000539243.2_5'Flank|HMHA1_ENST00000313093.2_5'Flank|HMHA1_ENST00000536472.1_5'Flank|HMHA1_ENST00000586866.1_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	2053					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACATGGAGGCCGCCTGCGCT	0.736																																					p.G2053G		.											.	ABCA7-98	0			c.C6159T						.	C		327,3757		20,287,1735	5.0	6.0	6.0		6159	1.5	0.8	19	dbSNP_110	6	2858,5242		553,1752,1745	no	coding-synonymous	ABCA7	NM_019112.3		573,2039,3480	TT,TC,CC		35.284,8.0069,26.1408		2053/2147	1065044	3185,8999	2042	4050	6092	SO:0001819	synonymous_variant	10347	exon46			TGGAGGCCGCCTG	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.6159C>T	19.37:g.1065044C>T		1	0		10	6	NM_019112	0	0	2	9	7	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			C|0.766;T|0.234		0.736	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	
FBN3	84467	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	8156470	8156470	+	Silent	SNP	G	G	A	rs567421534		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:8156470G>A	ENST00000600128.1	-	48	6324	c.5910C>T	c.(5908-5910)atC>atT	p.I1970I	FBN3_ENST00000270509.2_Silent_p.I1970I|FBN3_ENST00000601739.1_Silent_p.I1970I			Q75N90	FBN3_HUMAN	fibrillin 3	1970	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.I1970I(2)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGCACTCGTCGATATCTGGAA	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17863	0.0		0.0	False		,,,				2504	0.0				p.I1970I		.											.	FBN3-100	2	Substitution - coding silent(2)	skin(2)	c.C5910T						.						89.0	79.0	82.0					19																	8156470		2203	4300	6503	SO:0001819	synonymous_variant	84467	exon47			CTCGTCGATATCT		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5910C>T	19.37:g.8156470G>A		106	1		97	24	NM_032447	0	0	0	0	0	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	0.281	-0.986104	0.02180	.	.	ENSG00000142449	ENST00000341066	.	.	.	4.45	-1.96	0.07525	.	.	.	.	.	T	0.50548	0.1622	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37361	-0.9709	5	0.22109	T	0.4	.	9.9319	0.41528	0.2297:0.0:0.7703:0.0	.	.	.	.	L	90	.	ENSP00000341317:S90L	S	-	2	0	FBN3	8062470	0.871000	0.30034	0.137000	0.22149	0.004000	0.04260	0.179000	0.16840	-0.643000	0.05473	-0.982000	0.02568	TCG	.		0.602	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
C19orf44	84167	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	16611629	16611629	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:16611629G>A	ENST00000221671.3	+	2	182	c.26G>A	c.(25-27)cGt>cAt	p.R9H	C19orf44_ENST00000594035.1_Missense_Mutation_p.R9H|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	9										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AAAGCCAGCCGTCCCATGCGT	0.428																																					p.R9H		.											.	C19orf44-90	0			c.G26A						.						118.0	108.0	111.0					19																	16611629		2203	4300	6503	SO:0001583	missense	84167	exon2			CCAGCCGTCCCAT	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.26G>A	19.37:g.16611629G>A	ENSP00000221671:p.Arg9His	117	0		164	33	NM_032207	0	0	0	0	0	Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	7.373	0.627137	0.14257	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.46	-6.65	0.01795	.	1.869930	0.02813	N	0.124605	T	0.13841	0.0335	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.001;0.017	B;B	0.08055	0.001;0.003	T	0.09796	-1.0658	9	0.18276	T	0.48	2.5604	1.6735	0.02817	0.3637:0.1749:0.3465:0.115	.	9;9	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	H	9	.	ENSP00000221671:R9H	R	+	2	0	C19orf44	16472629	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.693000	0.05121	-1.134000	0.02899	0.655000	0.94253	CGT	.		0.428	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207	
ZNF492	57615	ucsc.edu	37	19	22836805	22836805	+	Missense_Mutation	SNP	G	G	A	rs200144130		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:22836805G>A	ENST00000456783.2	+	3	362	c.118G>A	c.(118-120)Gct>Act	p.A40T		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A40T(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TGAGATGGTAGCTGAACCCCC	0.408																																					p.A40T		.											.	ZNF492-68	2	Substitution - Missense(2)	prostate(2)	c.G118A						.																																			SO:0001583	missense	57615	exon3			ATGGTAGCTGAAC	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.118G>A	19.37:g.22836805G>A	ENSP00000413660:p.Ala40Thr	120	1		136	15	NM_020855	0	0	0	0	0	Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	10.18	1.279365	0.23307	.	.	ENSG00000229676	ENST00000456783	T	0.07688	3.17	0.458	0.458	0.16670	Krueppel-associated box (1);	.	.	.	.	T	0.13372	0.0324	M	0.72576	2.205	0.09310	N	1	P	0.45011	0.848	P	0.46585	0.521	T	0.13899	-1.0492	8	0.42905	T	0.14	.	.	.	.	.	40	Q9P255	ZN492_HUMAN	T	40	ENSP00000413660:A40T	ENSP00000413660:A40T	A	+	1	0	ZNF492	22628645	0.064000	0.20934	0.002000	0.10522	0.002000	0.02628	1.318000	0.33643	0.482000	0.27582	0.484000	0.47621	GCT	.		0.408	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855	
SCGB2B2	284402	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	35085180	35085180	+	Missense_Mutation	SNP	C	C	T	rs142177025		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:35085180C>T	ENST00000601241.1	-	3	2246	c.146G>A	c.(145-147)cGt>cAt	p.R49H	SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Missense_Mutation_p.R49H			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2	49						extracellular region (GO:0005576)											GGGGTTGTAACGAGCAAGCTC	0.493																																					p.R49H		.											.	.	0			c.G146A						.						123.0	107.0	113.0					19																	35085180		2203	4300	6503	SO:0001583	missense	284402	exon2			TTGTAACGAGCAA	AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"""Secretoglobins"""	27616	protein-coding gene	gene with protein product		615063	"""secretoglobin-like"""	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.146G>A	19.37:g.35085180C>T	ENSP00000469876:p.Arg49His	218	0		188	41	NM_001025591	0	0	0	0	0		Missense_Mutation	SNP	ENST00000601241.1	37	CCDS32989.1	.	.	.	.	.	.	.	.	.	.	c	0.015	-1.551369	0.00918	.	.	ENSG00000205209	ENST00000379204	T	0.14022	2.54	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.08714	0.0216	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39231	-0.9624	7	0.87932	D	0	.	.	.	.	.	49	Q4G0G5	SCGBL_HUMAN	H	49	ENSP00000368502:R49H	ENSP00000368502:R49H	R	-	2	0	SCGBL	39777020	0.004000	0.15560	0.100000	0.21137	0.102000	0.19082	-2.976000	0.00665	-1.410000	0.02035	-1.404000	0.01136	CGT	C|1.000;A|0.000		0.493	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461457.2	NM_001025591	
WDR87	83889	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	38375577	38375577	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:38375577G>A	ENST00000303868.5	-	6	8841	c.8617C>T	c.(8617-8619)Ctc>Ttc	p.L2873F	WDR87_ENST00000447313.2_Missense_Mutation_p.L2912F	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	2873										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						CCAAATTAGAGAGTGGGAGCA	0.498																																					p.L2873F		.											.	.	0			c.C8617T						.						31.0	29.0	30.0					19																	38375577		692	1591	2283	SO:0001583	missense	83889	exon6			ATTAGAGAGTGGG	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.8617C>T	19.37:g.38375577G>A	ENSP00000368025:p.Leu2873Phe	224	0		252	48	NM_031951	0	0	0	0	0	Q9BWV9	Missense_Mutation	SNP	ENST00000303868.5	37	CCDS46063.1	.	.	.	.	.	.	.	.	.	.	G	8.733	0.917090	0.17907	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.14640	2.49;2.49	4.42	2.24	0.28232	.	.	.	.	.	T	0.06371	0.0164	N	0.08118	0	0.09310	N	1	P;P	0.39576	0.679;0.679	B;B	0.38562	0.276;0.276	T	0.30880	-0.9963	9	0.22109	T	0.4	.	6.536	0.22355	0.2212:0.0:0.7788:0.0	.	2873;2912	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	F	2912;2873	ENSP00000405012:L2912F;ENSP00000368025:L2873F	ENSP00000368025:L2873F	L	-	1	0	WDR87	43067417	0.041000	0.20044	0.033000	0.17914	0.067000	0.16453	1.311000	0.33562	1.189000	0.43028	0.455000	0.32223	CTC	.		0.498	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314628.2	XM_940478	
PLEKHG2	64857	hgsc.bcm.edu	37	19	39915729	39915729	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:39915729C>T	ENST00000409794.3	+	19	4806	c.3956C>T	c.(3955-3957)cCg>cTg	p.P1319L	PLEKHG2_ENST00000425673.1_Missense_Mutation_p.P1290L|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1319	Poly-Pro.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCATCTTCGCCGCCCCCCCAG	0.751																																					p.P1319L		.											.	PLEKHG2-274	0			c.C3956T						.						6.0	8.0	7.0					19																	39915729		1940	4041	5981	SO:0001583	missense	64857	exon19			CTTCGCCGCCCCC	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.3956C>T	19.37:g.39915729C>T	ENSP00000386733:p.Pro1319Leu	1	0		42	20	NM_022835	0	0	1	1	0	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.68|13.68	2.310109|2.310109	0.40895|0.40895	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673|ENST00000205135	T;T|.	0.80393|.	-1.26;-1.37|.	4.97|4.97	2.79|2.79	0.32731|0.32731	.|.	0.000000|.	0.41823|.	D|.	0.000811|.	T|T	0.54175|0.54175	0.1842|0.1842	M|M	0.62723|0.62723	1.935|1.935	0.33398|0.33398	D|D	0.577002|0.577002	P;P|.	0.40230|.	0.708;0.584|.	B;B|.	0.34991|.	0.193;0.095|.	T|T	0.62774|0.62774	-0.6783|-0.6783	9|5	.|.	.|.	.|.	.|.	6.2789|6.2789	0.20997|0.20997	0.0:0.7096:0.1904:0.1|0.0:0.7096:0.1904:0.1	.|.	1290;1319|.	Q9H7P9-3;Q9H7P9|.	.;PKHG2_HUMAN|.	L|C	1319;1290|1187	ENSP00000386733:P1319L;ENSP00000392906:P1290L|.	.|.	P|R	+|+	2|1	0|0	PLEKHG2|PLEKHG2	44607569|44607569	0.373000|0.373000	0.25073|0.25073	0.121000|0.121000	0.21740|0.21740	0.107000|0.107000	0.19398|0.19398	1.400000|1.400000	0.34577|0.34577	1.213000|1.213000	0.43380|0.43380	0.655000|0.655000	0.94253|0.94253	CCG|CGC	.		0.751	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835	
LYPD3	27076	broad.mit.edu	37	19	43965594	43965594	+	Missense_Mutation	SNP	C	C	T	rs149095976	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:43965594C>T	ENST00000244333.3	-	5	1038	c.950G>A	c.(949-951)gGg>gAg	p.G317E		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	317					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				CTGCTGGGGCCCCCCTTTTGC	0.622													C|||	4	0.000798722	0.0	0.0014	5008	,	,		16242	0.0		0.003	False		,,,				2504	0.0				p.G317E		.											.	LYPD3-91	0			c.G950A						.	C	GLU/GLY	2,4404	4.2+/-10.8	0,2,2201	43.0	46.0	45.0		950	0.4	0.0	19	dbSNP_134	45	11,8589	8.4+/-32.0	0,11,4289	yes	missense	LYPD3	NM_014400.2	98	0,13,6490	TT,TC,CC		0.1279,0.0454,0.1	benign	317/347	43965594	13,12993	2203	4300	6503	SO:0001583	missense	27076	exon5			TGGGGCCCCCCTT	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.950G>A	19.37:g.43965594C>T	ENSP00000244333:p.Gly317Glu	57	1		105	3	NM_014400	0	0	4	4	0	Q9UJ74	Missense_Mutation	SNP	ENST00000244333.3	37	CCDS12620.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.42	1.345506	0.24426	4.54E-4	0.001279	ENSG00000124466	ENST00000244333;ENST00000377995	T	0.12879	2.64	5.13	0.434	0.16539	.	0.666605	0.13500	N	0.383293	T	0.07098	0.0180	N	0.14661	0.345	0.09310	N	1	B	0.20368	0.044	B	0.18263	0.021	T	0.31336	-0.9947	10	0.72032	D	0.01	.	4.5533	0.12124	0.3053:0.5268:0.0:0.1679	.	317	O95274	LYPD3_HUMAN	E	317;265	ENSP00000244333:G317E	ENSP00000244333:G317E	G	-	2	0	LYPD3	48657434	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.324000	0.07986	0.018000	0.15052	-0.143000	0.13931	GGG	C|0.999;T|0.001		0.622	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400	
ZNF233	353355	hgsc.bcm.edu	37	19	44778797	44778797	+	Frame_Shift_Del	DEL	T	T	-	rs386809644|rs386809645|rs2884015	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:44778797delT	ENST00000391958.2	+	5	2111	c.1984delT	c.(1984-1986)ttgfs	p.L662fs	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Frame_Shift_Del_p.L644fs|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	662					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TAAGAGTTCGTTGTCTTCAGA	0.413																																					p.L662fs		.											.	ZNF233-92	0			c.1984delT						.		,	2463,1797		712,1039,379	70.0	79.0	75.0		,	-8.4	0.0	19	dbSNP_129	61	1034,7216		69,896,3160	no	frameshift,frameshift	ZNF233	NM_181756.2,NM_001207005.1	,	781,1935,3539	A1A1,A1R,RR		12.5333,42.1831,27.9536	,	,	44778797	3497,9013	2201	4300	6501	SO:0001589	frameshift_variant	353355	exon5			AGTTCGTTGTCTT	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1984delT	19.37:g.44778797delT	ENSP00000375820:p.Leu662fs	76	0		107	42	NM_001207005	0	0	0	0	0	B2RN78|B2RN79|Q86WL8	Frame_Shift_Del	DEL	ENST00000391958.2	37	CCDS33047.1																																																																																			.		0.413	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756	
PTGIR	5739	hgsc.bcm.edu	37	19	47127324	47127324	+	Silent	SNP	C	C	G	rs2229128	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:47127324C>G	ENST00000291294.2	-	2	292	c.159G>C	c.(157-159)gtG>gtC	p.V53V	PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000596260.1_Silent_p.V53V|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000594275.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	53					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	CCAGTCCGGTCACCAGCACCG	0.731													G|||	1139	0.227436	0.1362	0.2133	5008	,	,		13968	0.3313		0.2465	False		,,,				2504	0.2342				p.V53V		.											.	PTGIR-522	0			c.G159C						.	G		523,3103		62,399,1352	3.0	5.0	5.0		159	2.2	1.0	19	dbSNP_98	5	1678,5498		231,1216,2141	no	coding-synonymous	PTGIR	NM_000960.3		293,1615,3493	GG,GC,CC		23.3835,14.4236,20.3759		53/387	47127324	2201,8601	1813	3588	5401	SO:0001819	synonymous_variant	5739	exon2			TCCGGTCACCAGC		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"""GPCR / Class A : Prostanoid receptors"""	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.159G>C	19.37:g.47127324C>G		1	0		15	11	NM_000960	0	0	0	0	0		Silent	SNP	ENST00000291294.2	37	CCDS12686.1																																																																																			C|0.254;G|0.746		0.731	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1		
SULT2B1	6820	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	49079309	49079309	+	Silent	SNP	C	C	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:49079309C>T	ENST00000201586.2	+	2	361	c.183C>T	c.(181-183)gaC>gaT	p.D61D	SULT2B1_ENST00000323090.4_Silent_p.D46D	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	61					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TGCGGGACGACGACATCTTTA	0.632																																					p.D61D		.											.	SULT2B1-91	0			c.C183T						.						114.0	98.0	103.0					19																	49079309		2203	4300	6503	SO:0001819	synonymous_variant	6820	exon2			GGACGACGACATC	U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"""Sulfotransferases, cytosolic"""	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.183C>T	19.37:g.49079309C>T		78	0		75	13	NM_177973	0	0	0	0	0	O00205|O75814	Silent	SNP	ENST00000201586.2	37	CCDS12723.1																																																																																			.		0.632	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466140.1	NM_004605	
NTN5	126147	hgsc.bcm.edu	37	19	49164952	49164952	+	Silent	SNP	A	A	G	rs281392	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:49164952A>G	ENST00000270235.4	-	7	1547	c.1452T>C	c.(1450-1452)agT>agC	p.S484S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	484						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCGGCCTGGGACTGGGTGTGG	0.687													G|||	2669	0.532947	0.351	0.4669	5008	,	,		9559	0.5625		0.6421	False		,,,				2504	0.683				p.S484S		.											.	NTN5-136	0			c.T1452C						.	G		1663,2349		390,883,733	9.0	9.0	9.0		1452	2.2	0.0	19	dbSNP_79	9	5217,2785		1816,1585,600	no	coding-synonymous	NTN5	NM_145807.1		2206,2468,1333	GG,GA,AA		34.8038,41.4506,42.7335		484/490	49164952	6880,5134	2006	4001	6007	SO:0001819	synonymous_variant	126147	exon7			CCTGGGACTGGGT		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.1452T>C	19.37:g.49164952A>G		0	0		6	4	NM_145807	0	0	0	4	4	Q8N4X9|Q8WU63	Silent	SNP	ENST00000270235.4	37	CCDS33068.1																																																																																			A|0.464;G|0.536		0.687	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807	
PNKP	11284	broad.mit.edu	37	19	50370408	50370408	+	Silent	SNP	T	T	C			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:50370408T>C	ENST00000322344.3	-	2	163	c.54A>G	c.(52-54)ggA>ggG	p.G18G	PNKP_ENST00000596014.1_Silent_p.G18G|PNKP_ENST00000600573.1_Silent_p.G18G|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600910.1_Silent_p.G18G	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	18	FHA.			G -> E (in Ref. 1; AAD51135). {ECO:0000305}.	dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGGGGCGCTCCCCCAGGGG	0.711								Other BER factors																													p.G18G		.											.	PNKP-253	0			c.A54G						.						13.0	16.0	15.0					19																	50370408		2177	4247	6424	SO:0001819	synonymous_variant	11284	exon2			GGGCGCTCCCCCA	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.54A>G	19.37:g.50370408T>C		34	5		106	22	NM_007254	0	0	73	79	6	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	CCDS12783.1																																																																																			.		0.711	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254	
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	A	G			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:50370414A>G	ENST00000322344.3	-	2	157	c.48T>C	c.(46-48)ccT>ccC	p.P16P	PNKP_ENST00000596014.1_Silent_p.P16P|PNKP_ENST00000600573.1_Silent_p.P16P|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600910.1_Silent_p.P16P	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	16	FHA.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)	p.P16P(8)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721								Other BER factors																													p.P16P		.											.	PNKP-253	8	Substitution - coding silent(8)	lung(6)|urinary_tract(2)	c.T48C						.						10.0	13.0	12.0					19																	50370414		2073	4105	6178	SO:0001819	synonymous_variant	11284	exon2			TCCCCCAGGGGGG	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.48T>C	19.37:g.50370414A>G		25	2		101	16	NM_007254	0	0	78	78	0	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	CCDS12783.1																																																																																			.		0.721	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254	
AKT1S1	84335	hgsc.bcm.edu	37	19	50376388	50376388	+	Silent	SNP	C	C	T	rs201965042	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:50376388C>T	ENST00000391833.1	-	1	2154	c.165G>A	c.(163-165)gcG>gcA	p.A55A	AKT1S1_ENST00000391832.3_Silent_p.A55A|AKT1S1_ENST00000391835.1_Silent_p.A75A|AKT1S1_ENST00000391834.2_Silent_p.A55A|AKT1S1_ENST00000344175.5_Silent_p.A55A|AKT1S1_ENST00000391831.1_Silent_p.A55A	NM_001278160.1	NP_001265089.1			AKT1 substrate 1 (proline-rich)											kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GCGCTGCCTCCGCCAGGGCTC	0.746													c|||	15	0.00299521	0.0106	0.0014	5008	,	,		9717	0.0		0.0	False		,,,				2504	0.0				p.A75A		.											.	AKT1S1-186	0			c.G225A						.	G	,,	34,4102		0,34,2034	15.0	12.0	13.0		165,165,165	-9.8	0.1	19		13	3,8013		0,3,4005	no	coding-synonymous,coding-synonymous,coding-synonymous	AKT1S1	NM_001098632.1,NM_001098633.1,NM_032375.3	,,	0,37,6039	TT,TC,CC		0.0374,0.8221,0.3045	,,	55/257,55/257,55/257	50376388	37,12115	2068	4008	6076	SO:0001819	synonymous_variant	84335	exon2			TGCCTCCGCCAGG	BC022241	CCDS12784.1, CCDS59410.1	19q13.33	2008-02-05			ENSG00000204673	ENSG00000204673			28426	protein-coding gene	gene with protein product	"""proline-rich Akt substrate, 40 kDa"""	610221				12524439	Standard	NM_032375		Approved	PRAS40, MGC2865, Lobe	uc031rmg.1	Q96B36	OTTHUMG00000150246	ENST00000391833.1:c.165G>A	19.37:g.50376388C>T		2	0		14	6	NM_032375	0	0	24	59	35		Silent	SNP	ENST00000391833.1	37	CCDS12784.1																																																																																			C|0.999;T|0.001		0.746	AKT1S1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317073.1	NM_032375	
TARM1	441864	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	54578299	54578299	+	Silent	SNP	C	C	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr19:54578299C>T	ENST00000432826.1	-	3	162	c.138G>A	c.(136-138)acG>acA	p.T46T	TARM1_ENST00000446034.2_Silent_p.T54T	NM_001135686.1	NP_001129158.2	B6A8C7	TARM1_HUMAN	T cell-interacting, activating receptor on myeloid cells 1	46	Ig-like C2-type 1.					integral component of membrane (GO:0016021)				endometrium(1)|stomach(2)	3						AACATCGCAGCGTCACATTGC	0.602																																					p.T46T		.											.	.	0			c.G138A						.						30.0	28.0	29.0					19																	54578299		692	1591	2283	SO:0001819	synonymous_variant	441864	exon3			TCGCAGCGTCACA		CCDS46173.1	19q13.42	2013-01-29			ENSG00000248385	ENSG00000248385		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	37250	protein-coding gene	gene with protein product							Standard	XM_005258952		Approved		uc010yei.1	B6A8C7		ENST00000432826.1:c.138G>A	19.37:g.54578299C>T		91	1		126	29	NM_001135686	0	0	0	0	0	B4DWY4	Silent	SNP	ENST00000432826.1	37	CCDS46173.1																																																																																			.		0.602	TARM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465679.1	NM_001135686	
LTBP1	4052	ucsc.edu	37	2	33500091	33500091	+	Missense_Mutation	SNP	G	G	A	rs572890688		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr2:33500091G>A	ENST00000404816.2	+	17	3156	c.2803G>A	c.(2803-2805)Gag>Aag	p.E935K	LTBP1_ENST00000407925.1_Missense_Mutation_p.E609K|LTBP1_ENST00000390003.4_Missense_Mutation_p.E610K|LTBP1_ENST00000402934.1_Missense_Mutation_p.E556K|LTBP1_ENST00000418533.2_Missense_Mutation_p.E609K|LTBP1_ENST00000404525.1_Missense_Mutation_p.E556K|LTBP1_ENST00000354476.3_Missense_Mutation_p.E936K			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	935	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.E936K(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGAAAACACCGAGGGAAGTTT	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		18689	0.001		0.0	False		,,,				2504	0.0				p.E935K		.											.	LTBP1-230	1	Substitution - Missense(1)	lung(1)	c.G2803A						.						110.0	105.0	106.0					2																	33500091		2203	4300	6503	SO:0001583	missense	4052	exon17			AACACCGAGGGAA		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2803G>A	2.37:g.33500091G>A	ENSP00000386043:p.Glu935Lys	113	2		83	12	NM_206943	0	0	14	17	3	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	14.31	2.495841	0.44352	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.91996	-2.25;-2.25;-2.95;-2.25;-2.95;-2.95;-2.95	5.77	5.77	0.91146	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.87160	0.6108	L	0.42686	1.345	0.80722	D	1	P;B;B;B;B;B	0.35481	0.504;0.31;0.286;0.304;0.304;0.448	B;B;B;B;B;B	0.31495	0.131;0.015;0.035;0.056;0.034;0.08	D	0.84281	0.0494	9	0.21540	T	0.41	.	13.2183	0.59873	0.0723:0.0:0.9277:0.0	.	935;609;556;609;610;936	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	K	935;936;610;609;556;556;609	ENSP00000386043:E935K;ENSP00000346467:E936K;ENSP00000374653:E610K;ENSP00000393057:E609K;ENSP00000384373:E556K;ENSP00000385359:E556K;ENSP00000384091:E609K	ENSP00000346467:E936K	E	+	1	0	LTBP1	33353595	1.000000	0.71417	0.965000	0.40720	0.955000	0.61496	4.253000	0.58791	2.745000	0.94114	0.650000	0.86243	GAG	.		0.428	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	
SOWAHC	65124	hgsc.bcm.edu	37	2	110372192	110372192	+	Silent	SNP	A	A	G	rs6594048		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr2:110372192A>G	ENST00000356454.3	+	1	282	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	42																	GGGGCGCCCTAGGCGGCGAAC	0.771													G|||	5008	1.0	1.0	1.0	5008	,	,		6158	1.0		1.0	False		,,,				2504	1.0				p.L42L		.											.	.	0			c.A126G						.						1.0	2.0	2.0					2																	110372192		1239	2477	3716	SO:0001819	synonymous_variant	65124	exon1			CGCCCTAGGCGGC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"""Ankyrin repeat domain containing"""	26149	protein-coding gene	gene with protein product			"""ankyrin repeat domain 57"""	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.126A>G	2.37:g.110372192A>G		0	0		4	4	NM_023016	0	0	0	0	0	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			A|0.029;G|0.971		0.771	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179569656	179569656	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr2:179569656T>A	ENST00000591111.1	-	102	28915	c.28691A>T	c.(28690-28692)aAg>aTg	p.K9564M	TTN_ENST00000589042.1_Missense_Mutation_p.K9881M|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K8637M|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13649					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAAATTCCTTTTCGTCCCT	0.328																																					p.K9881M		.											.	TTN-636	0			c.A29642T						.						142.0	140.0	141.0					2																	179569656		1822	4083	5905	SO:0001583	missense	7273	exon104			AATTCCTTTTCGT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28691A>T	2.37:g.179569656T>A	ENSP00000465570:p.Lys9564Met	93	0		84	29	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	11.85	1.761295	0.31137	.	.	ENSG00000155657	ENST00000342992	T	0.64803	-0.12	5.99	4.83	0.62350	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.41419	0.1158	N	0.08118	0	0.80722	D	1	P	0.43169	0.8	B	0.37833	0.259	T	0.49283	-0.8956	9	0.87932	D	0	.	12.1489	0.54038	0.0:0.0668:0.0:0.9332	.	9564	Q8WZ42	TITIN_HUMAN	M	8637	ENSP00000343764:K8637M	ENSP00000343764:K8637M	K	-	2	0	TTN	179277901	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	4.432000	0.59922	1.087000	0.41251	0.533000	0.62120	AAG	.		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ANKAR	150709	hgsc.bcm.edu;bcgsc.ca	37	2	190611186	190611186	+	Frame_Shift_Del	DEL	A	A	-			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr2:190611186delA	ENST00000520309.1	+	23	4226	c.4138delA	c.(4138-4140)atgfs	p.M1380fs	ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Frame_Shift_Del_p.M1309fs|ANKAR_ENST00000313581.4_Frame_Shift_Del_p.M1380fs	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1380						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AACTAACTTCATGGGACTCTT	0.318																																					p.M1380fs		.											.	ANKAR-72	0			c.4138delA						.						89.0	101.0	97.0					2																	190611186		2203	4299	6502	SO:0001589	frameshift_variant	150709	exon23			AACTTCATGGGAC	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.4138delA	2.37:g.190611186delA	ENSP00000427882:p.Met1380fs	159	0		296	74	NM_144708	0	0	0	0	0	Q3ZCS6|Q4G0M2|Q6ZU02	Frame_Shift_Del	DEL	ENST00000520309.1	37	CCDS33351.2																																																																																			.		0.318	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708	
OBSL1	23363	broad.mit.edu	37	2	220423154	220423154	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr2:220423154G>T	ENST00000404537.1	-	10	3310	c.3254C>A	c.(3253-3255)gCa>gAa	p.A1085E	OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000373876.1_Missense_Mutation_p.A1085E|OBSL1_ENST00000603926.1_Missense_Mutation_p.A1085E|OBSL1_ENST00000265317.5_Missense_Mutation_p.A76E|RP11-256I23.2_ENST00000597192.1_RNA	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1085	Ig-like 9.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGAGCGGGCTGCCGGGTGCAC	0.677																																					p.A1085E		.											.	OBSL1-71	0			c.C3254A						.						7.0	8.0	8.0					2																	220423154		1915	4081	5996	SO:0001583	missense	23363	exon10			CGGGCTGCCGGGT	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.3254C>A	2.37:g.220423154G>T	ENSP00000385636:p.Ala1085Glu	52	3		86	7	NM_001173431	0	1	29	32	2	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.018|0.018	-1.473882|-1.473882	0.01044|0.01044	.|.	.|.	ENSG00000124006|ENSG00000124006	ENST00000404537;ENST00000373876;ENST00000265317|ENST00000456147	T;T;T|.	0.56611|.	0.52;0.45;0.75|.	4.56|4.56	1.73|1.73	0.24493|0.24493	Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.22475|0.22475	0.0542|0.0542	N|N	0.21373|0.21373	0.66|0.66	0.09310|0.09310	N|N	0.999999|0.999999	B;P;P|.	0.46578|.	0.012;0.88;0.494|.	B;P;P|.	0.54060|.	0.016;0.741;0.512|.	T|T	0.23547|0.23547	-1.0185|-1.0185	9|5	0.02654|.	T|.	1|.	.|.	5.0207|5.0207	0.14360|0.14360	0.2359:0.0:0.6193:0.1448|0.2359:0.0:0.6193:0.1448	.|.	1086;1085;76|.	A4KVA4;O75147;E7ER99|.	.;OBSL1_HUMAN;.|.	E|K	1085;1085;76|79	ENSP00000385636:A1085E;ENSP00000362983:A1085E;ENSP00000265317:A76E|.	ENSP00000265317:A76E|.	A|Q	-|-	2|1	0|0	OBSL1|OBSL1	220131398|220131398	0.000000|0.000000	0.05858|0.05858	0.023000|0.023000	0.16930|0.16930	0.575000|0.575000	0.36095|0.36095	0.160000|0.160000	0.16462|0.16462	0.170000|0.170000	0.19704|0.19704	0.297000|0.297000	0.19635|0.19635	GCA|CAG	.		0.677	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1		
SP140	11262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	231103027	231103027	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr2:231103027G>A	ENST00000392045.3	+	3	451	c.337G>A	c.(337-339)Gca>Aca	p.A113T	SP140_ENST00000373645.3_Missense_Mutation_p.A113T|SP140_ENST00000417495.3_Missense_Mutation_p.A113T|SP140_ENST00000350136.5_Missense_Mutation_p.A93T|SP140_ENST00000486687.2_Missense_Mutation_p.A113T|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000420434.3_Missense_Mutation_p.A113T|SP140_ENST00000343805.6_Missense_Mutation_p.A113T	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	113	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACATCTGGAAGCATTGTTCAG	0.428																																					p.A113T		.											.	SP140-90	0			c.G337A						.						120.0	107.0	111.0					2																	231103027		2203	4300	6503	SO:0001583	missense	11262	exon3			CTGGAAGCATTGT	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.337G>A	2.37:g.231103027G>A	ENSP00000375899:p.Ala113Thr	257	0		363	87	NM_007237	0	0	1	1	0	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	0.209	-1.037821	0.02013	.	.	ENSG00000079263	ENST00000537563;ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434;ENST00000373645	D;D;D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42;-3.42;-3.42	3.7	-0.0865	0.13681	Sp100 (2);	.	.	.	.	D	0.89371	0.6696	L	0.45051	1.395	0.09310	N	1	B;B;B;B;B;B	0.10296	0.001;0.001;0.001;0.003;0.001;0.001	B;B;B;B;B;B	0.15052	0.004;0.004;0.002;0.012;0.006;0.003	T	0.76833	-0.2813	9	0.28530	T	0.3	-0.6256	6.3711	0.21481	0.4378:0.0:0.5622:0.0	.	113;113;113;113;113;113	E7EUR5;E7ESH9;E9PFJ6;Q13342;E7EX75;Q6NSG4	.;.;.;LY10_HUMAN;.;.	T	113;113;113;93;113;113;113;113;113	ENSP00000440107:A113T;ENSP00000345846:A93T;ENSP00000375899:A113T;ENSP00000342096:A113T;ENSP00000398210:A113T;ENSP00000362749:A113T	ENSP00000342096:A113T	A	+	1	0	SP140	230811271	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.192000	0.17096	-0.035000	0.13691	-1.581000	0.00855	GCA	.		0.428	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	
ALPPL2	251	hgsc.bcm.edu	37	2	233274476	233274476	+	Missense_Mutation	SNP	G	G	C	rs114768772		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr2:233274476G>C	ENST00000295453.3	+	11	1545	c.1493G>C	c.(1492-1494)cGc>cCc	p.R498P		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	498				R -> P (in Ref. 1; AAA98616 and 4; CAA39425). {ECO:0000305}.|R -> S (in Ref. 3; CAA37374). {ECO:0000305}.	dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CTGGCGCCCCGCGCCGGCACC	0.726																																					p.R498P		.											.	ALPPL2-91	0			c.G1493C						.						12.0	16.0	15.0					2																	233274476		2172	4236	6408	SO:0001583	missense	251	exon11			CGCCCCGCGCCGG	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1493G>C	2.37:g.233274476G>C	ENSP00000295453:p.Arg498Pro	0	0		17	5	NM_031313	0	0	0	0	0	A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	CCDS2491.1	194	0.08882783882783883	42	0.08536585365853659	21	0.058011049723756904	71	0.12412587412587413	60	0.079155672823219	a	0.009	-1.842776	0.00568	.	.	ENSG00000163286	ENST00000295453	D	0.95622	-3.76	2.39	1.49	0.22878	Alkaline-phosphatase-like, core domain (1);	0.504996	0.18426	N	0.141584	T	0.05640	0.0148	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55425	-0.8143	10	0.02654	T	1	.	6.1524	0.20318	0.3771:0.4391:0.1839:0.0	.	498	P10696	PPBN_HUMAN	P	498	ENSP00000295453:R498P	ENSP00000295453:R498P	R	+	2	0	ALPPL2	232982720	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.066000	0.11598	-0.037000	0.13646	-2.747000	0.00125	CGC	G|0.946;C|0.054		0.726	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313	
MYEOV2	150678	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	241075689	241075689	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr2:241075689delC	ENST00000607357.1	-	1	31	c.13delG	c.(13-15)gtgfs	p.V5fs	MYEOV2_ENST00000307266.3_Frame_Shift_Del_p.V26fs|MYEOV2_ENST00000489698.1_5'Flank	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	5										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		ATCTCGTCCACCGCCGGCTTC	0.736																																					p.V26fs		.											.	MYEOV2-68	0			c.76delG						.						6.0	8.0	7.0					2																	241075689		2084	4140	6224	SO:0001589	frameshift_variant	150678	exon1			CGTCCACCGCCGG	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000607357.1:c.13delG	2.37:g.241075689delC	ENSP00000475979:p.Val5fs	24	0		87	30	NM_138336	0	0	0	0	0	Q8N110	Frame_Shift_Del	DEL	ENST00000607357.1	37																																																																																				.		0.736	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	NM_138336	
ZCCHC3	85364	hgsc.bcm.edu	37	20	278515	278515	+	Silent	SNP	T	T	C	rs2223665	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr20:278515T>C	ENST00000382352.3	+	1	779	c.288T>C	c.(286-288)gaT>gaC	p.D96D		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	96							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCCGCGGGGATCCGAAGGGCC	0.776													C|||	2949	0.588858	0.6974	0.6643	5008	,	,		6571	0.375		0.6064	False		,,,				2504	0.591				p.D96D		.											.	ZCCHC3-90	0			c.T288C						.						1.0	1.0	1.0					20																	278515		303	859	1162	SO:0001819	synonymous_variant	85364	exon1			CGGGGATCCGAAG	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.288T>C	20.37:g.278515T>C		1	0		5	5	NM_033089	0	0	0	1	1	Q3B7J3|Q6NT79	Silent	SNP	ENST00000382352.3	37	CCDS42844.1																																																																																			T|0.454;C|0.546		0.776	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1		
SMOX	54498	bcgsc.ca	37	20	4163302	4163302	+	Silent	SNP	A	A	G	rs1051904	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr20:4163302A>G	ENST00000305958.4	+	5	1401	c.1176A>G	c.(1174-1176)gcA>gcG	p.A392A	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Silent_p.A339A|SMOX_ENST00000278795.3_Silent_p.A339A|SMOX_ENST00000379460.2_Silent_p.A392A	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	392					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGGACGAAGCAGAGAGCCACA	0.597													G|||	2551	0.509385	0.4448	0.6023	5008	,	,		17731	0.4345		0.67	False		,,,				2504	0.4427				p.A392A		.											.	SMOX-153	0			c.A1176G						.	G	,,,	2170,2236	592.6+/-387.8	525,1120,558	128.0	115.0	120.0		1176,1017,,1017	-11.0	0.1	20	dbSNP_86	120	5753,2847	448.1+/-361.7	1941,1871,488	yes	coding-synonymous,coding-synonymous,intron,coding-synonymous	SMOX	NM_175839.1,NM_175840.1,NM_175841.1,NM_175842.1	,,,	2466,2991,1046	GG,GA,AA		33.1047,49.251,39.082	,,,	392/556,339/503,,339/533	4163302	7923,5083	2203	4300	6503	SO:0001819	synonymous_variant	54498	exon5			CGAAGCAGAGAGC	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1176A>G	20.37:g.4163302A>G		217	2		82	5	NM_175839	0	0	18	18	0	A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Silent	SNP	ENST00000305958.4	37	CCDS13075.1																																																																																			A|0.432;G|0.568		0.597	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842	
SLC24A3	57419	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	19665891	19665891	+	Missense_Mutation	SNP	G	G	T	rs140841773		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr20:19665891G>T	ENST00000328041.6	+	12	1407	c.1210G>T	c.(1210-1212)Gtg>Ttg	p.V404L		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	404					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGACGATGTTGTGGCTGAGGC	0.542																																					p.V404L		.											.	SLC24A3-91	0			c.G1210T						.	G	LEU/VAL	1,4405	2.1+/-5.4	0,1,2202	115.0	102.0	106.0		1210	4.6	0.1	20	dbSNP_134	106	0,8600		0,0,4300	no	missense	SLC24A3	NM_020689.3	32	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	404/645	19665891	1,13005	2203	4300	6503	SO:0001583	missense	57419	exon12			GATGTTGTGGCTG	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1210G>T	20.37:g.19665891G>T	ENSP00000333519:p.Val404Leu	187	0		108	40	NM_020689	0	0	4	5	1	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	3.400	-0.122496	0.06795	2.27E-4	0.0	ENSG00000185052	ENST00000328041	T	0.60672	0.17	5.59	4.62	0.57501	.	0.500414	0.22654	N	0.057283	T	0.38931	0.1059	N	0.14661	0.345	0.09310	N	0.99999	B	0.02656	0.0	B	0.08055	0.003	T	0.14868	-1.0457	9	.	.	.	.	13.1365	0.59411	0.0807:0.0:0.9193:0.0	.	404	Q9HC58	NCKX3_HUMAN	L	404	ENSP00000333519:V404L	.	V	+	1	0	SLC24A3	19613891	0.963000	0.33076	0.121000	0.21740	0.498000	0.33706	2.982000	0.49337	1.305000	0.44909	0.563000	0.77884	GTG	G|1.000;T|0.000		0.542	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689	
FRG1B	284802	bcgsc.ca	37	20	29623219	29623219	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr20:29623219A>G	ENST00000278882.3	+	3	411	c.31A>G	c.(31-33)Atg>Gtg	p.M11V	FRG1B_ENST00000358464.4_Missense_Mutation_p.M11V|FRG1B_ENST00000439954.2_Missense_Mutation_p.N12S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	11										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCACTCGACAATGGTCTTTTT	0.413																																					.		.											.	FRG1B-22	0			.						.																																			SO:0001583	missense	284802	.			TCGACAATGGTCT			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.31A>G	20.37:g.29623219A>G	ENSP00000278882:p.Met11Val	1080	19		649	20	.	0	0	116	116	0	C4AME5	RNA	SNP	ENST00000278882.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	0.925|0.925	-0.714671|-0.714671	0.03206|0.03206	.|.	.|.	ENSG00000149531|ENSG00000149531	ENST00000278882;ENST00000358464|ENST00000439954	.|T	.|0.53206	.|0.63	1.93|1.93	1.93|1.93	0.25924|0.25924	.|.	0.114289|.	0.56097|.	U|.	0.000024|.	T|T	0.42040|0.42040	0.1185|0.1185	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999983|0.999983	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.36648|0.36648	-0.9739|-0.9739	6|6	0.66056|0.54805	D|T	0.02|0.06	.|.	4.9441|4.9441	0.13980|0.13980	0.6812:0.3188:0.0:0.0|0.6812:0.3188:0.0:0.0	.|.	.|.	.|.	.|.	V|S	11|12	.|ENSP00000408863:N12S	ENSP00000278882:M11V|ENSP00000408863:N12S	M|N	+|+	1|2	0|0	FRG1B|FRG1B	28236880|28236880	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.107000|0.107000	0.19398|0.19398	3.154000|3.154000	0.50693|0.50693	1.147000|1.147000	0.42369|0.42369	0.347000|0.347000	0.21830|0.21830	ATG|AAT	.		0.413	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
SLC17A9	63910	bcgsc.ca	37	20	61598731	61598731	+	Missense_Mutation	SNP	C	C	T	rs7271712	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr20:61598731C>T	ENST00000370351.4	+	13	1321	c.1190C>T	c.(1189-1191)aCg>aTg	p.T397M	SLC17A9_ENST00000370349.3_Missense_Mutation_p.T391M|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	397			T -> M (in dbSNP:rs7271712).		exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						ATGGAGACCACGGGCTCCTGG	0.642													C|||	209	0.0417332	0.0923	0.0663	5008	,	,		16280	0.0		0.0378	False		,,,				2504	0.0031				p.T397M		.											.	SLC17A9-92	0			c.C1190T						.	C	MET/THR	339,3741		11,317,1712	178.0	189.0	186.0		1190	2.6	1.0	20	dbSNP_116	186	237,8167		9,219,3974	yes	missense	SLC17A9	NM_022082.3	81	20,536,5686	TT,TC,CC		2.8201,8.3088,4.6139	probably-damaging	397/437	61598731	576,11908	2040	4202	6242	SO:0001583	missense	63910	exon13			AGACCACGGGCTC	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.1190C>T	20.37:g.61598731C>T	ENSP00000359376:p.Thr397Met	193	1		130	6	NM_022082	0	0	1	1	0	B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	CCDS42901.1	99	0.04532967032967033	50	0.1016260162601626	22	0.06077348066298342	0	0.0	27	0.03562005277044855	C	15.68	2.906278	0.52333	0.083088	0.028201	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.60548	0.18;0.18	4.6	2.6	0.31112	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.153499	0.64402	N	0.000019	T	0.04861	0.0131	M	0.76838	2.35	0.80722	D	1	D;D	0.64830	0.968;0.994	P;P	0.55965	0.619;0.788	T	0.13098	-1.0522	10	0.59425	D	0.04	.	9.7201	0.40297	0.0:0.7804:0.1415:0.0781	rs7271712;rs52790132;rs7271712	397;391	Q9BYT1;Q9BYT1-2	S17A9_HUMAN;.	M	397;391	ENSP00000359376:T397M;ENSP00000359374:T391M	ENSP00000359374:T391M	T	+	2	0	SLC17A9	61069176	0.991000	0.36638	0.957000	0.39632	0.822000	0.46500	2.977000	0.49297	0.451000	0.26802	0.561000	0.74099	ACG	C|0.952;T|0.048		0.642	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082	
URB1	9875	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	33717002	33717002	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr21:33717002C>G	ENST00000382751.3	-	24	4249	c.4134G>C	c.(4132-4134)tgG>tgC	p.W1378C	RN7SL109P_ENST00000493105.2_RNA	NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	1378						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						GGGTCCTTCTCCAGGCACACA	0.522																																					p.W1378C		.											.	.	0			c.G4134C						.						119.0	99.0	105.0					21																	33717002		692	1591	2283	SO:0001583	missense	9875	exon24			CCTTCTCCAGGCA	AB011111	CCDS46645.1	21q22.11	2006-11-28	2006-11-28	2006-11-28	ENSG00000142207	ENSG00000142207			17344	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1	608865	"""chromosome 21 open reading frame 108"""	C21orf108		9628581	Standard	NM_014825		Approved	KIAA0539, NPA1	uc002ypn.2	O60287	OTTHUMG00000064919	ENST00000382751.3:c.4134G>C	21.37:g.33717002C>G	ENSP00000372199:p.Trp1378Cys	70	0		57	19	NM_014825	0	0	1	2	1	D3DSE5|Q96NX1|Q9NYQ1	Missense_Mutation	SNP	ENST00000382751.3	37	CCDS46645.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825946	0.71143	.	.	ENSG00000142207	ENST00000382751	T	0.50001	0.76	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.67757	0.2927	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70920	-0.4741	10	0.72032	D	0.01	-15.6507	17.2641	0.87081	0.0:1.0:0.0:0.0	.	1378	O60287	NPA1P_HUMAN	C	1378	ENSP00000372199:W1378C	ENSP00000372199:W1378C	W	-	3	0	URB1	32638873	1.000000	0.71417	0.969000	0.41365	0.980000	0.70556	5.205000	0.65186	2.549000	0.85964	0.491000	0.48974	TGG	.		0.522	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139400.2		
KRTAP10-10	353333	ucsc.edu	37	21	46057625	46057625	+	Silent	SNP	T	T	C	rs66931310|rs56249559|rs55677560	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr21:46057625T>C	ENST00000380095.1	+	1	353	c.291T>C	c.(289-291)ccT>ccC	p.P97P	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	97	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						gctgtgtgcctgtctgctgtg	0.622																																					p.P97P		.											.	KRTAP10-10-90	0			c.T291C						.						82.0	79.0	80.0					21																	46057625		2132	4094	6226	SO:0001819	synonymous_variant	353333	exon1			TGTGCCTGTCTGC	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.291T>C	21.37:g.46057625T>C		90	0		107	6	NM_181688	0	0	0	0	0		Silent	SNP	ENST00000380095.1	37	CCDS33585.1																																																																																			C|1.000;|0.000		0.622	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688	
COL6A2	1292	hgsc.bcm.edu	37	21	47532263	47532263	+	Silent	SNP	C	C	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr21:47532263C>T	ENST00000300527.4	+	3	590	c.486C>T	c.(484-486)gaC>gaT	p.D162D	COL6A2_ENST00000310645.5_Silent_p.D162D|COL6A2_ENST00000357838.4_Silent_p.D162D|COL6A2_ENST00000397763.1_Silent_p.D162D|COL6A2_ENST00000409416.1_Silent_p.D162D	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	162	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCATCACCGACGGCCACGTCA	0.716																																					p.D162D		.											.	COL6A2-515	0			c.C486T						.						14.0	15.0	15.0					21																	47532263		2173	4254	6427	SO:0001819	synonymous_variant	1292	exon3			CACCGACGGCCAC	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.486C>T	21.37:g.47532263C>T		7	0		72	19	NM_058175	0	0	34	34	0	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	CCDS13728.1																																																																																			.		0.716	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		
CECR2	27443	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	17983977	17983977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr22:17983977C>T	ENST00000400585.2	+	7	748	c.310C>T	c.(310-312)Cga>Tga	p.R104*	CECR2_ENST00000400573.5_Nonsense_Mutation_p.R245*|CECR2_ENST00000262608.8_Nonsense_Mutation_p.R226*|CECR2_ENST00000342247.5_Nonsense_Mutation_p.R225*			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	267					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GACCTCCCTTCGAGAACGGCA	0.582																																					.		.											.	CECR2-70	0			.						.						67.0	75.0	73.0					22																	17983977		1992	4163	6155	SO:0001587	stop_gained	27443	.			TCCCTTCGAGAAC	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.310C>T	22.37:g.17983977C>T	ENSP00000383428:p.Arg104*	103	0		46	38	.	0	0	0	0	0	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Nonsense_Mutation	SNP	ENST00000400585.2	37		.	.	.	.	.	.	.	.	.	.	C	28.7	4.939690	0.92526	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	.	.	.	5.35	1.43	0.22495	.	0.000000	0.45867	D	0.000327	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8471	13.3044	0.60345	0.6823:0.3177:0.0:0.0	.	.	.	.	X	225;104;245;226	.	ENSP00000262608:R226X	R	+	1	2	CECR2	16363977	0.994000	0.37717	0.875000	0.34327	0.469000	0.32828	3.131000	0.50515	0.686000	0.31488	0.655000	0.94253	CGA	.		0.582	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413	
MICALL1	85377	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org|broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	38307969	38307970	+	Missense_Mutation	DNP	TC	TC	AT	rs201864925	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T|	T|	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr22:38307969_38307970TC>AT	ENST00000215957.6	+	2	283_284	c.157_158TC>AT	c.(157-159)TCg>ATg	p.S53M		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	53	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGATTTTGATTCGCTTTCCAAG	0.52																																					p.S53T|p.S53L		.											.	MICALL1-153	0			c.T157A|c.C158T						.																																			SO:0001583	missense	85377	exon2			TTTGATTCGCTTT|TTGATTCGCTTTC	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	Exception_encountered	22.37:g.38307969_38307970delinsAT	ENSP00000215957:p.Ser53Met	248|252	0|2		253|259	65|68	NM_033386	0	0	0	0	0	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	CCDS13961.1																																																																																			.|C|0.999;T|0.001		0.520	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386	
SCO2	9997	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	50962186	50962186	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr22:50962186C>A	ENST00000543927.1	-	2	861	c.655G>T	c.(655-657)Gac>Tac	p.D219Y	SCO2_ENST00000252785.3_Missense_Mutation_p.D219Y|CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000395693.3_Missense_Mutation_p.D219Y|SCO2_ENST00000535425.1_Missense_Mutation_p.D219Y	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	219	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACGATGTAGTCCTGGTCCTCA	0.572																																					p.D219Y		.											.	SCO2-226	0			c.G655T						.						224.0	188.0	200.0					22																	50962186		2203	4300	6503	SO:0001583	missense	9997	exon2			TGTAGTCCTGGTC	AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"""Mitochondrial respiratory chain complex assembly factors"""	10604	protein-coding gene	gene with protein product		604272	"""SCO (cytochrome oxidase deficient, yeast) homolog 2"", ""SCO cytochrome oxidase deficient homolog 2 (yeast)"", ""myopia 6"""	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.655G>T	22.37:g.50962186C>A	ENSP00000444433:p.Asp219Tyr	253	0		83	14	NM_001169111	0	0	21	26	5	Q3T1B5|Q9UK87	Missense_Mutation	SNP	ENST00000543927.1	37	CCDS14095.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858509	0.71834	.	.	ENSG00000130489	ENST00000395693;ENST00000543927;ENST00000535425;ENST00000252785	D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73	4.97	4.97	0.65823	Thioredoxin-like fold (3);	0.000000	0.64402	D	0.000002	D	0.97300	0.9117	M	0.72576	2.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97889	1.0296	10	0.87932	D	0	-23.597	16.0963	0.81127	0.0:1.0:0.0:0.0	.	219	O43819	SCO2_HUMAN	Y	219	ENSP00000379046:D219Y;ENSP00000444433:D219Y;ENSP00000444242:D219Y;ENSP00000252785:D219Y	ENSP00000252785:D219Y	D	-	1	0	SCO2	49309052	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	6.911000	0.75746	2.486000	0.83907	0.643000	0.83706	GAC	.		0.572	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317091.1	NM_005138	
ITPR1	3708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	4715039	4715039	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:4715039G>C	ENST00000443694.2	+	18	2379	c.2379G>C	c.(2377-2379)tgG>tgC	p.W793C	ITPR1_ENST00000357086.4_Missense_Mutation_p.W808C|ITPR1_ENST00000456211.2_Missense_Mutation_p.W793C|ITPR1_ENST00000302640.8_Missense_Mutation_p.W793C|ITPR1_ENST00000354582.6_Missense_Mutation_p.W808C|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.W808C			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	808					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CCCGCCTCTGGTCGGAGATTC	0.552																																					p.W808C		.											.	ITPR1-710	0			c.G2424C						.						102.0	107.0	105.0					3																	4715039		1949	4138	6087	SO:0001583	missense	3708	exon21			CCTCTGGTCGGAG	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2379G>C	3.37:g.4715039G>C	ENSP00000401671:p.Trp793Cys	122	0		74	30	NM_001099952	0	0	0	1	1	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322152	0.81580	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.93488	-3.23;-3.22;-3.21;-3.21;-3.21;-3.23	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.97238	0.9097	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97760	1.0220	10	0.87932	D	0	.	18.3862	0.90468	0.0:0.0:1.0:0.0	.	793;808;808	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	C	808;793;808;808;808;793;793	ENSP00000306253:W793C;ENSP00000346595:W808C;ENSP00000405934:W808C;ENSP00000349597:W808C;ENSP00000397885:W793C;ENSP00000401671:W793C	ENSP00000306253:W793C	W	+	3	0	ITPR1	4690039	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.511000	0.98006	2.739000	0.93911	0.491000	0.48974	TGG	.		0.552	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
BRPF1	7862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	9780990	9780990	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:9780990G>C	ENST00000457855.1	+	2	918	c.907G>C	c.(907-909)Gag>Cag	p.E303Q	BRPF1_ENST00000424362.1_Missense_Mutation_p.E303Q|BRPF1_ENST00000302054.3_Missense_Mutation_p.E303Q|BRPF1_ENST00000433861.2_Missense_Mutation_p.E303Q|BRPF1_ENST00000383829.2_Missense_Mutation_p.E303Q			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	303					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CGTGCACCAGGAGTGCTACGG	0.572																																					p.E303Q		.											.	BRPF1-92	0			c.G907C						.						95.0	75.0	82.0					3																	9780990		2203	4300	6503	SO:0001583	missense	7862	exon3			CACCAGGAGTGCT	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.907G>C	3.37:g.9780990G>C	ENSP00000410210:p.Glu303Gln	260	0		202	65	NM_001003694	0	0	6	8	2	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655845	0.88056	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	6.07	6.07	0.98685	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93096	0.7802	M	0.64260	1.97	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.997;0.986;0.996;0.998	D	0.92638	0.6122	10	0.72032	D	0.01	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	303;303;303;303	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	Q	303	ENSP00000402485:E303Q;ENSP00000398863:E303Q;ENSP00000373340:E303Q;ENSP00000306297:E303Q;ENSP00000410210:E303Q	ENSP00000306297:E303Q	E	+	1	0	BRPF1	9755990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.884000	0.98904	0.655000	0.94253	GAG	.		0.572	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694	
BRPF1	7862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	9787330	9787330	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:9787330G>C	ENST00000457855.1	+	10	3135	c.3124G>C	c.(3124-3126)Gat>Cat	p.D1042H	BRPF1_ENST00000424362.1_Missense_Mutation_p.D1041H|BRPF1_ENST00000302054.3_Missense_Mutation_p.D1042H|BRPF1_ENST00000433861.2_Missense_Mutation_p.D947H|BRPF1_ENST00000383829.2_Missense_Mutation_p.D1048H			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1042	Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CAGCAGTGAGGATACCTCAGG	0.617																																					p.D1048H		.											.	BRPF1-92	0			c.G3142C						.						67.0	65.0	66.0					3																	9787330		2203	4300	6503	SO:0001583	missense	7862	exon11			AGTGAGGATACCT	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.3124G>C	3.37:g.9787330G>C	ENSP00000410210:p.Asp1042His	191	0		173	50	NM_001003694	0	0	9	22	13	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989197	0.74589	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.18960	2.21;2.18;3.58;2.18;2.18	5.76	5.76	0.90799	.	0.046113	0.85682	D	0.000000	T	0.30727	0.0774	L	0.43152	1.355	0.80722	D	1	P;P;P;B	0.39883	0.693;0.514;0.514;0.38	P;B;B;B	0.46144	0.505;0.264;0.264;0.193	T	0.00675	-1.1615	10	0.48119	T	0.1	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	947;1041;1048;1042	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	H	947;1041;1048;1042;1042	ENSP00000402485:D947H;ENSP00000398863:D1041H;ENSP00000373340:D1048H;ENSP00000306297:D1042H;ENSP00000410210:D1042H	ENSP00000306297:D1042H	D	+	1	0	BRPF1	9762330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.199000	0.95003	2.713000	0.92767	0.655000	0.94253	GAT	.		0.617	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694	
OGG1	4968	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	9792837	9792837	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:9792837G>A	ENST00000344629.7	+	2	689	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	OGG1_ENST00000302008.8_Missense_Mutation_p.V116M|OGG1_ENST00000302036.7_Missense_Mutation_p.V116M|OGG1_ENST00000383826.5_Missense_Mutation_p.V116M|OGG1_ENST00000302003.7_Missense_Mutation_p.V116M|OGG1_ENST00000339511.5_Missense_Mutation_p.V116M|OGG1_ENST00000349503.5_Missense_Mutation_p.V116M|OGG1_ENST00000449570.2_Missense_Mutation_p.V116M			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	116					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CTGGGGTTCCGTGGACTCCCA	0.557								Base excision repair (BER), DNA glycosylases																													p.V116M		.											.	OGG1-660	0			c.G346A						.						70.0	61.0	64.0					3																	9792837		2203	4300	6503	SO:0001583	missense	4968	exon2			GGTTCCGTGGACT	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.346G>A	3.37:g.9792837G>A	ENSP00000342851:p.Val116Met	232	1		196	55	NM_016819	0	0	8	16	8	A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	ENST00000344629.7	37	CCDS2581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.91|14.91	2.677581|2.677581	0.47886|0.47886	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000352937|ENST00000302003;ENST00000344629;ENST00000302036;ENST00000349503;ENST00000339511;ENST00000449570;ENST00000302008;ENST00000383826	.|T;T;T;T;T;T;T;T	.|0.54675	.|0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.54|5.54	3.64|3.64	0.41730|0.41730	.|8-oxoguanine DNA glycosylase, N-terminal (1);Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);	.|0.545309	.|0.20991	.|N	.|0.082030	T|T	0.36054|0.36054	0.0953|0.0953	L|L	0.41824|0.41824	1.3|1.3	0.09310|0.09310	N|N	1|1	.|B;P;D;P;P;P;B;P	.|0.54397	.|0.256;0.816;0.966;0.849;0.63;0.849;0.328;0.708	.|B;B;B;B;B;B;B;B	.|0.37422	.|0.058;0.111;0.249;0.159;0.113;0.105;0.095;0.101	T|T	0.27468|0.27468	-1.0073|-1.0073	5|10	.|0.46703	.|T	.|0.11	-4.8451|-4.8451	6.1633|6.1633	0.20376|0.20376	0.1637:0.0:0.6906:0.1457|0.1637:0.0:0.6906:0.1457	.|.	.|116;116;116;116;116;116;116;116	.|E5KPM8;E5KPM6;E5KPM5;E5KPM7;E5KPM9;E5KPN0;O15527;O15527-2	.|.;.;.;.;.;.;OGG1_HUMAN;.	H|M	21|116	.|ENSP00000305584:V116M;ENSP00000342851:V116M;ENSP00000306561:V116M;ENSP00000303132:V116M;ENSP00000345520:V116M;ENSP00000403598:V116M;ENSP00000305527:V116M;ENSP00000373337:V116M	.|ENSP00000305584:V116M	R|V	+|+	2|1	0|0	OGG1|OGG1	9767837|9767837	0.999000|0.999000	0.42202|0.42202	0.245000|0.245000	0.24217|0.24217	0.986000|0.986000	0.74619|0.74619	4.201000|4.201000	0.58439|0.58439	0.610000|0.610000	0.30035|0.30035	0.655000|0.655000	0.94253|0.94253	CGT|GTG	.		0.557	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821	
GOLGA4	2803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	37368506	37368506	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:37368506G>T	ENST00000361924.2	+	14	5503	c.5129G>T	c.(5128-5130)aGa>aTa	p.R1710I	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R1732I	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1710	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATTGTACCCAGATCAGCAAAA	0.363																																					p.R1732I		.											.	GOLGA4-93	0			c.G5195T						.						116.0	126.0	122.0					3																	37368506		2202	4297	6499	SO:0001583	missense	2803	exon15			TACCCAGATCAGC	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5129G>T	3.37:g.37368506G>T	ENSP00000354486:p.Arg1710Ile	80	0		146	56	NM_001172713	1	0	82	98	15	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	8.085	0.773160	0.16051	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.23754	1.89;1.89;1.89	4.17	0.133	0.14766	.	0.795969	0.10375	N	0.682292	T	0.19406	0.0466	L	0.57536	1.79	0.09310	N	1	B;B;B;B	0.09022	0.002;0.002;0.002;0.001	B;B;B;B	0.08055	0.003;0.003;0.003;0.001	T	0.35176	-0.9799	10	0.35671	T	0.21	.	0.2817	0.00246	0.2992:0.2006:0.2971:0.2031	.	1710;1710;1732;1710	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	I	1710;1732;1581	ENSP00000354486:R1710I;ENSP00000349305:R1732I;ENSP00000405842:R1581I	ENSP00000349305:R1732I	R	+	2	0	GOLGA4	37343510	0.000000	0.05858	0.001000	0.08648	0.604000	0.37047	0.548000	0.23314	0.111000	0.17947	0.561000	0.74099	AGA	.		0.363	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
XIRP1	165904	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	39227962	39227962	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:39227962G>A	ENST00000340369.3	-	2	3203	c.2975C>T	c.(2974-2976)cCt>cTt	p.P992L	XIRP1_ENST00000396251.1_Missense_Mutation_p.P992L|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	992					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGGAGGGCAAGGGGTGGCCCC	0.607																																					p.P992L		.											.	XIRP1-158	0			c.C2975T						.						41.0	42.0	42.0					3																	39227962		2202	4298	6500	SO:0001583	missense	165904	exon2			GGGCAAGGGGTGG	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2975C>T	3.37:g.39227962G>A	ENSP00000343140:p.Pro992Leu	81	0		44	19	NM_001198621	0	0	0	0	0	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	9.690	1.151578	0.21371	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.04970	3.52;3.89	4.32	4.32	0.51571	.	3.878270	0.01100	U	0.005353	T	0.12518	0.0304	L	0.56769	1.78	0.80722	D	1	B;B	0.30482	0.281;0.16	B;B	0.28305	0.041;0.088	T	0.31998	-0.9923	10	0.72032	D	0.01	.	13.0284	0.58829	0.0:0.0:1.0:0.0	.	992;992	Q702N8;Q702N8-2	XIRP1_HUMAN;.	L	992	ENSP00000379550:P992L;ENSP00000343140:P992L	ENSP00000343140:P992L	P	-	2	0	XIRP1	39202966	0.065000	0.20965	0.004000	0.12327	0.296000	0.27459	2.690000	0.47001	2.361000	0.80049	0.650000	0.86243	CCT	.		0.607	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522	
HSPBAP1	79663	broad.mit.edu	37	3	122487688	122487688	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:122487688G>T	ENST00000306103.2	-	3	435	c.292C>A	c.(292-294)Ctc>Atc	p.L98I	HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000383659.1_Missense_Mutation_p.L98I	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	98	Interaction with HSPB1. {ECO:0000250}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		AACTCTTCGAGTGTAGCTTCT	0.358																																					p.L98I		.											.	HSPBAP1-227	0			c.C292A						.						69.0	68.0	68.0					3																	122487688		2203	4300	6503	SO:0001583	missense	79663	exon3			CTTCGAGTGTAGC	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.292C>A	3.37:g.122487688G>T	ENSP00000302562:p.Leu98Ile	206	3		193	7	NM_024610	0	0	7	7	0	Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	37	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233542	0.58886	.	.	ENSG00000169087	ENST00000383659;ENST00000306103	T;T	0.22336	1.96;1.96	4.98	4.1	0.47936	.	0.131711	0.52532	D	0.000066	T	0.23727	0.0574	L	0.38531	1.155	0.30777	N	0.742406	P;D	0.54397	0.89;0.966	B;P	0.49999	0.396;0.628	T	0.06972	-1.0797	10	0.31617	T	0.26	.	13.1392	0.59426	0.0:0.1604:0.8396:0.0	.	98;98	Q96EW2-2;Q96EW2	.;HBAP1_HUMAN	I	98	ENSP00000373155:L98I;ENSP00000302562:L98I	ENSP00000302562:L98I	L	-	1	0	HSPBAP1	123970378	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	2.695000	0.47043	1.214000	0.43395	0.655000	0.94253	CTC	.		0.358	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610	
HRG	3273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	186386808	186386808	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:186386808G>C	ENST00000232003.4	+	2	348	c.268G>C	c.(268-270)Gag>Cag	p.E90Q		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	90	Cystatin 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GAATGACTGTGAGCCACCTGA	0.413																																					p.E90Q		.											.	HRG-91	0			c.G268C						.						120.0	118.0	119.0					3																	186386808		2203	4300	6503	SO:0001583	missense	3273	exon2			GACTGTGAGCCAC		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.268G>C	3.37:g.186386808G>C	ENSP00000232003:p.Glu90Gln	169	0		122	19	NM_000412	0	0	0	0	0	B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107571	0.37145	.	.	ENSG00000113905	ENST00000232003	T	0.27557	1.66	4.4	-4.56	0.03431	Proteinase inhibitor I25, cystatin (2);	2.039330	0.02221	N	0.064032	T	0.33818	0.0876	L	0.51422	1.61	0.09310	N	1	P	0.39282	0.666	P	0.47102	0.537	T	0.33904	-0.9850	10	0.18710	T	0.47	0.746	7.9346	0.29923	0.6557:0.1418:0.2025:0.0	.	90	P04196	HRG_HUMAN	Q	90	ENSP00000232003:E90Q	ENSP00000232003:E90Q	E	+	1	0	HRG	187869502	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.518000	0.06267	-1.016000	0.03371	0.655000	0.94253	GAG	.		0.413	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412	
MUC4	4585	bcgsc.ca	37	3	195513123	195513123	+	Silent	SNP	T	T	A			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:195513123T>A	ENST00000463781.3	-	2	5787	c.5328A>T	c.(5326-5328)ccA>ccT	p.P1776P	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.P1776P|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGACAGGAAGTGGGGTGGCGT	0.587																																					p.P1776P		.											.	MUC4-90	0			c.A5328T						.						61.0	60.0	60.0					3																	195513123		692	1591	2283	SO:0001819	synonymous_variant	4585	exon2			AGGAAGTGGGGTG	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5328A>T	3.37:g.195513123T>A		2147	76		1656	164	NM_018406	0	0	0	0	0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																			.		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	bcgsc.ca	37	3	195513136	195513136	+	Missense_Mutation	SNP	G	G	C	rs140116971		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:195513136G>C	ENST00000463781.3	-	2	5774	c.5315C>G	c.(5314-5316)gCt>gGt	p.A1772G	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A1772G|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTGGCGTGAGCTGTGGATAC	0.587																																					p.A1772G		.											.	MUC4-90	0			c.C5315G						.						61.0	58.0	59.0					3																	195513136		692	1590	2282	SO:0001583	missense	4585	exon2			GCGTGAGCTGTGG	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5315C>G	3.37:g.195513136G>C	ENSP00000417498:p.Ala1772Gly	1955	62		1561	148	NM_018406	0	0	0	0	0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	5.371	0.253699	0.10185	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37752	1.37;1.18	.	.	.	.	.	.	.	.	T	0.10208	0.0250	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18840	-1.0324	7	.	.	.	.	2.1265	0.03740	0.0:0.3285:0.348:0.3235	.	1772	E7ESK3	.	G	1772	ENSP00000417498:A1772G;ENSP00000420243:A1772G	.	A	-	2	0	MUC4	196997531	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.735000	0.04888	-1.966000	0.01009	-1.954000	0.00483	GCT	.		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	bcgsc.ca	37	3	195513154	195513154	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:195513154G>T	ENST00000463781.3	-	2	5756	c.5297C>A	c.(5296-5298)aCt>aAt	p.T1766N	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T1766N|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TACTGAGGAAGTGTCGGTGAC	0.587																																					p.T1766N		.											.	MUC4-90	0			c.C5297A						.						62.0	57.0	59.0					3																	195513154		692	1591	2283	SO:0001583	missense	4585	exon2			GAGGAAGTGTCGG	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5297C>A	3.37:g.195513154G>T	ENSP00000417498:p.Thr1766Asn	1677	44		1393	143	NM_018406	0	0	0	0	0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	5.471	0.271874	0.10349	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32272	1.46;1.46	.	.	.	.	.	.	.	.	T	0.11452	0.0279	N	0.08118	0	0.09310	N	1	B	0.22909	0.077	B	0.06405	0.002	T	0.28586	-1.0039	7	.	.	.	.	2.6645	0.05037	0.4931:0.0:0.5069:0.0	.	1766	E7ESK3	.	N	1766	ENSP00000417498:T1766N;ENSP00000420243:T1766N	.	T	-	2	0	MUC4	196997549	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	0.176000	0.16782	0.088000	0.17205	0.089000	0.15464	ACT	.		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	bcgsc.ca	37	3	195513634	195513634	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:195513634G>A	ENST00000463781.3	-	2	5276	c.4817C>T	c.(4816-4818)cCt>cTt	p.P1606L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P1606L|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGCTGAGGAAGGGCTGGTGAC	0.572																																					p.P1606L		.											.	MUC4-90	0			c.C4817T						.						20.0	21.0	21.0					3																	195513634		675	1579	2254	SO:0001583	missense	4585	exon2			GAGGAAGGGCTGG	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4817C>T	3.37:g.195513634G>A	ENSP00000417498:p.Pro1606Leu	912	7		528	38	NM_018406	0	0	0	0	0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	4.973	0.180800	0.09443	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.26518	1.75;1.73	.	.	.	.	.	.	.	.	T	0.11410	0.0278	N	0.08118	0	0.09310	N	1	P	0.39696	0.683	B	0.41374	0.355	T	0.15636	-1.0430	7	.	.	.	.	2.6645	0.05037	0.4931:0.0:0.5069:0.0	.	1606	E7ESK3	.	L	1606	ENSP00000417498:P1606L;ENSP00000420243:P1606L	.	P	-	2	0	MUC4	196998029	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	-0.449000	0.06812	0.088000	0.17205	0.089000	0.15464	CCT	.		0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	bcgsc.ca	37	3	195515038	195515038	+	Missense_Mutation	SNP	G	G	A	rs201206859		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:195515038G>A	ENST00000463781.3	-	2	3872	c.3413C>T	c.(3412-3414)cCt>cTt	p.P1138L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P1138L|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	605					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.P1138L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTCGGTGACAGGAAGAGAGGT	0.567																																					p.P1138L		.											.	MUC4-90	1	Substitution - Missense(1)	endometrium(1)	c.C3413T						.																																			SO:0001583	missense	4585	exon2			GTGACAGGAAGAG	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3413C>T	3.37:g.195515038G>A	ENSP00000417498:p.Pro1138Leu	682	9		357	13	NM_018406	0	0	0	0	0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	5.066	0.197826	0.09652	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33865	1.39;1.39	0.814	0.814	0.18756	.	.	.	.	.	T	0.38108	0.1028	N	0.19112	0.55	0.09310	N	1	D	0.69078	0.997	D	0.74674	0.984	T	0.21280	-1.0250	8	.	.	.	.	7.6132	0.28142	0.0:0.0:1.0:0.0	.	1138	E7ESK3	.	L	1138	ENSP00000417498:P1138L;ENSP00000420243:P1138L	.	P	-	2	0	MUC4	196999433	0.002000	0.14202	0.001000	0.08648	0.065000	0.16274	1.050000	0.30404	0.776000	0.33473	0.064000	0.15345	CCT	.		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	bcgsc.ca	37	3	195515052	195515052	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:195515052G>C	ENST00000463781.3	-	2	3858	c.3399C>G	c.(3397-3399)caC>caG	p.H1133Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H1133Q|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	581					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H1133Q(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGAGGTGGCGTGACCTGTGG	0.567																																					p.H1133Q		.											.	MUC4-90	2	Substitution - Missense(2)	endometrium(2)	c.C3399G						.						5.0	6.0	6.0					3																	195515052		542	1260	1802	SO:0001583	missense	4585	exon2			GGTGGCGTGACCT	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3399C>G	3.37:g.195515052G>C	ENSP00000417498:p.His1133Gln	672	12		369	17	NM_018406	0	0	0	0	0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	1.833	-0.469252	0.04445	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.26957	1.72;1.7	0.814	-1.63	0.08345	.	.	.	.	.	T	0.20700	0.0498	N	0.08118	0	0.09310	N	1	D	0.57899	0.981	P	0.61658	0.892	T	0.18618	-1.0331	8	.	.	.	.	6.1974	0.20557	0.0:0.0:0.5044:0.4955	.	1133	E7ESK3	.	Q	1133	ENSP00000417498:H1133Q;ENSP00000420243:H1133Q	.	H	-	3	2	MUC4	196999447	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.117000	0.10708	-1.056000	0.03205	0.064000	0.15345	CAC	.		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
FAM157A	728262	bcgsc.ca	37	3	197894668	197894668	+	lincRNA	SNP	G	G	A	rs200450190		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr3:197894668G>A	ENST00000437428.2	+	0	829							C9JC47	F157A_HUMAN	family with sequence similarity 157, member A									p.R337K(1)		NS(1)|skin(1)	2						TTCCCGCTGAGGTGCCAGAAG	0.607											OREG0016022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R337K		.											.	.	1	Substitution - Missense(1)	NS(1)	c.G1010A						.						33.0	31.0	31.0					3																	197894668		689	1588	2277			728262	exon5			CGCTGAGGTGCCA			3q29	2013-01-30			ENSG00000236438	ENSG00000236438			34079	other	unknown							Standard	NM_001145248		Approved		uc011bup.1	C9JC47			3.37:g.197894668G>A		610	3	2094	483	19	NM_001145248	0	0	0	2	2		Missense_Mutation	SNP	ENST00000437428.2	37		.	.	.	.	.	.	.	.	.	.	.	4.173	0.030697	0.08101	.	.	ENSG00000236438	ENST00000431569	.	.	.	0.467	0.467	0.16721	.	.	.	.	.	T	0.17365	0.0417	N	0.08118	0	0.09310	N	1	B	0.28667	0.219	B	0.32090	0.14	T	0.31888	-0.9927	6	.	.	.	.	.	.	.	.	337	C9JC47	F157A_HUMAN	K	337	.	.	R	+	2	0	FAM157A	199379065	0.074000	0.21230	0.015000	0.15790	0.049000	0.14656	0.293000	0.19029	0.539000	0.28788	0.388000	0.25769	AGG	.		0.607	FAM157A-001	KNOWN	not_best_in_genome_evidence|mRNA_end_NF|basic	lincRNA	lincRNA	OTTHUMT00000340078.2	NM_001145248	
TET2	54790	hgsc.bcm.edu;bcgsc.ca	37	4	106157773	106157773	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr4:106157773C>G	ENST00000540549.1	+	3	3534	c.2674C>G	c.(2674-2676)Caa>Gaa	p.Q892E	TET2_ENST00000394764.1_Missense_Mutation_p.Q892E|TET2_ENST00000545826.1_Missense_Mutation_p.Q892E|TET2_ENST00000513237.1_Missense_Mutation_p.Q913E|TET2_ENST00000413648.2_Missense_Mutation_p.Q892E|TET2_ENST00000305737.2_Missense_Mutation_p.Q892E|TET2_ENST00000380013.4_Missense_Mutation_p.Q892E			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	892	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GAAGTCACAACAAGCTTCAGT	0.403			"""Mis N, F"""		MDS																																p.Q892E		.		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	TET2-4618	0			c.C2674G						.						55.0	54.0	54.0					4																	106157773		2203	4300	6503	SO:0001583	missense	54790	exon3			TCACAACAAGCTT	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2674C>G	4.37:g.106157773C>G	ENSP00000442788:p.Gln892Glu	92	0		90	10	NM_001127208	0	0	0	0	0	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623121	0.66901	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.06294	3.36;4.18;3.32;4.18;4.18;3.36;3.39	5.79	5.79	0.91817	.	3.063960	0.01312	N	0.010668	T	0.12774	0.0310	L	0.34521	1.04	0.26511	N	0.974604	P;P;P	0.46142	0.682;0.682;0.873	B;B;P	0.44811	0.156;0.156;0.461	T	0.55173	-0.8182	10	0.39692	T	0.17	.	18.2205	0.89899	0.0:1.0:0.0:0.0	.	913;892;892	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	E	892;892;892;913;892;892;892	ENSP00000306705:Q892E;ENSP00000442788:Q892E;ENSP00000442867:Q892E;ENSP00000425443:Q913E;ENSP00000369351:Q892E;ENSP00000378245:Q892E;ENSP00000391448:Q892E	ENSP00000265149:Q892E	Q	+	1	0	TET2	106377222	0.347000	0.24853	0.055000	0.19348	0.898000	0.52572	4.263000	0.58853	2.733000	0.93635	0.655000	0.94253	CAA	.		0.403	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628	
C4orf32	132720	hgsc.bcm.edu	37	4	113066831	113066831	+	Missense_Mutation	SNP	G	G	A	rs10002700	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr4:113066831G>A	ENST00000309733.5	+	1	279	c.95G>A	c.(94-96)gGg>gAg	p.G32E		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	32				G -> E (in Ref. 1; BAC04841 and 3; AAH22534). {ECO:0000305}.		integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		gcagggaccgggtgggatccc	0.806													A|||	5004	0.999201	1.0	1.0	5008	,	,		5782	1.0		0.996	False		,,,				2504	1.0				p.G32E		.											.	C4orf32-90	0			c.G95A						.	A	GLU/GLY	2990,0		1495,0,0	3.0	5.0	4.0		95	2.0	0.1	4	dbSNP_119	4	6170,26		3072,26,0	no	missense	C4orf32	NM_152400.2	98	4567,26,0	AA,AG,GG		0.4196,0.0,0.283	benign	32/133	113066831	9160,26	1495	3098	4593	SO:0001583	missense	132720	exon1			GGACCGGGTGGGA	AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.95G>A	4.37:g.113066831G>A	ENSP00000310182:p.Gly32Glu	0	0		4	4	NM_152400	0	0	0	1	1	Q49A91|Q4W5C7|Q8TBF9	Missense_Mutation	SNP	ENST00000309733.5	37	CCDS3695.1	2136	0.978021978021978	469	0.9532520325203252	355	0.9806629834254144	563	0.9842657342657343	749	0.9881266490765171	A	0.015	-1.569980	0.00895	1.0	0.995804	ENSG00000174749	ENST00000309733	T	0.42513	0.97	3.18	2.02	0.26589	.	0.619595	0.14277	N	0.329768	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32561	-0.9902	9	0.02654	T	1	-1.079	4.6216	0.12455	0.712:0.0:0.288:0.0	rs10002700;rs17845705;rs17858649	32	Q8N8J7	CD032_HUMAN	E	32	ENSP00000310182:G32E	ENSP00000310182:G32E	G	+	2	0	C4orf32	113286280	0.547000	0.26465	0.070000	0.20053	0.008000	0.06430	0.688000	0.25422	0.414000	0.25790	-0.893000	0.02921	GGG	G|0.022;A|0.978		0.806	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2	NM_152400	
PRMT9	90826	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	148605040	148605040	+	Silent	SNP	C	C	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr4:148605040C>T	ENST00000322396.6	-	1	341	c.99G>A	c.(97-99)gaG>gaA	p.E33E	PRMT10_ENST00000541232.1_5'UTR	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		33						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CCAGACAGTGCTCTGCGCTCT	0.697																																					p.E33E		.											.	PRMT10-91	0			c.G99A						.						48.0	51.0	50.0					4																	148605040		2203	4300	6503	SO:0001819	synonymous_variant	90826	exon1			ACAGTGCTCTGCG																												ENST00000322396.6:c.99G>A	4.37:g.148605040C>T		161	0		108	35	NM_138364	0	0	2	2	0	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Silent	SNP	ENST00000322396.6	37	CCDS3771.1																																																																																			.		0.697	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1		
FBXO8	26269	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	175184113	175184113	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr4:175184113C>T	ENST00000393674.2	-	2	993	c.131G>A	c.(130-132)cGt>cAt	p.R44H	FBXO8_ENST00000503293.1_Missense_Mutation_p.R44H	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	44					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		GACTTGTTTACGATGATTGGT	0.448																																					p.R44H		.											.	FBXO8-290	0			c.G131A						.						252.0	224.0	234.0					4																	175184113		2203	4300	6503	SO:0001583	missense	26269	exon2			TGTTTACGATGAT	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"""F-boxes /  ""other"""""	13587	protein-coding gene	gene with protein product		605649	"""F-box only protein 8"""			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.131G>A	4.37:g.175184113C>T	ENSP00000377280:p.Arg44His	311	1		195	73	NM_012180	0	0	18	34	16	B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Missense_Mutation	SNP	ENST00000393674.2	37	CCDS3820.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670674	0.47781	.	.	ENSG00000164117	ENST00000393674;ENST00000503293;ENST00000513696	T;T	0.30448	2.44;1.53	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	N	0.24115	0.695	0.58432	D	0.999996	B;D	0.55385	0.022;0.971	B;B	0.39258	0.003;0.295	T	0.05818	-1.0862	10	0.87932	D	0	.	20.1336	0.98010	0.0:1.0:0.0:0.0	.	44;44	G5E9Z0;Q9NRD0	.;FBX8_HUMAN	H	44	ENSP00000377280:R44H;ENSP00000422905:R44H	ENSP00000377280:R44H	R	-	2	0	FBXO8	175420688	0.998000	0.40836	0.972000	0.41901	0.427000	0.31564	3.569000	0.53827	2.767000	0.95098	0.591000	0.81541	CGT	.		0.448	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180	
SLC6A19	340024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	1214090	1214090	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr5:1214090A>G	ENST00000304460.10	+	6	853	c.797A>G	c.(796-798)gAc>gGc	p.D266G		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	266					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCCAGCCGGACACCTGGCTG	0.657																																					p.D266G		.											.	SLC6A19-90	0			c.A797G						.						79.0	82.0	81.0					5																	1214090		2203	4300	6503	SO:0001583	missense	340024	exon6			AGCCGGACACCTG	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.797A>G	5.37:g.1214090A>G	ENSP00000305302:p.Asp266Gly	73	0		58	14	NM_001003841	0	0	0	0	0	A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	A	6.083	0.383654	0.11524	.	.	ENSG00000174358	ENST00000304460	T	0.74526	-0.85	4.96	-3.44	0.04796	.	1.777960	0.02977	N	0.145089	T	0.52789	0.1756	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.28427	-1.0044	10	0.23302	T	0.38	.	3.9037	0.09172	0.2893:0.2173:0.0:0.4934	.	266	Q695T7	S6A19_HUMAN	G	266	ENSP00000305302:D266G	ENSP00000305302:D266G	D	+	2	0	SLC6A19	1267090	0.094000	0.21725	0.035000	0.18076	0.653000	0.38743	0.201000	0.17276	-0.499000	0.06623	-0.529000	0.04317	GAC	.		0.657	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120	
SRD5A1	6715	hgsc.bcm.edu	37	5	6633779	6633779	+	Silent	SNP	C	C	G	rs248793	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr5:6633779C>G	ENST00000274192.5	+	1	324	c.90C>G	c.(88-90)cgC>cgG	p.R30R	SRD5A1_ENST00000537411.1_Missense_Mutation_p.A39G|NSUN2_ENST00000506139.1_5'Flank|SRD5A1_ENST00000504286.1_3'UTR|NSUN2_ENST00000539938.1_5'Flank|NSUN2_ENST00000264670.6_5'Flank|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A39G	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	30				Missing (in Ref. 4; AAF14869). {ECO:0000305}.	androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TCTTCGCGCGCAATCGTCAGA	0.746													G|||	2833	0.565695	0.6936	0.6816	5008	,	,		9293	0.3899		0.5537	False		,,,				2504	0.5041				p.R30R		.											.	SRD5A1-90	0			c.C90G						.	G		2367,1089		855,657,216	5.0	6.0	5.0		90	0.8	0.0	5	dbSNP_79	5	4176,3144		1277,1622,761	no	coding-synonymous	SRD5A1	NM_001047.2		2132,2279,977	GG,GC,CC		42.9508,31.5104,39.2817		30/260	6633779	6543,4233	1728	3660	5388	SO:0001819	synonymous_variant	6715	exon1			CGCGCGCAATCGT	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.90C>G	5.37:g.6633779C>G		0	0		7	6	NM_001047	0	0	0	0	0	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Silent	SNP	ENST00000274192.5	37	CCDS3870.1	1204	0.5512820512820513	332	0.6747967479674797	242	0.6685082872928176	214	0.3741258741258741	416	0.5488126649076517	G	11.09	1.537057	0.27475	0.684896	0.570492	ENSG00000145545	ENST00000537411;ENST00000538824	T	0.23552	1.9	3.76	0.815	0.18763	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	7	0.87932	D	0	-7.7997	5.3187	0.15870	0.1814:0.3179:0.5008:0.0	rs248793;rs1691051;rs17850143;rs17850363;rs57936391	39	F5GXK9	.	G	39	ENSP00000440186:A39G	ENSP00000446275:A39G	A	+	2	0	SRD5A1	6686779	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	1.407000	0.34657	-0.193000	0.10415	-0.132000	0.14878	GCA	C|0.454;G|0.546		0.746	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047	
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	13753560	13753560	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr5:13753560C>A	ENST00000265104.4	-	63	10758	c.10654G>T	c.(10654-10656)Gcc>Tcc	p.A3552S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3552					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTTTCCGGGCTTTCATTTCC	0.408									Kartagener syndrome																												p.A3552S		.											.	DNAH5-182	0			c.G10654T						.						118.0	120.0	119.0					5																	13753560		2203	4300	6503	SO:0001583	missense	1767	exon63	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TCCGGGCTTTCAT	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10654G>T	5.37:g.13753560C>A	ENSP00000265104:p.Ala3552Ser	78	0		140	37	NM_001369	0	0	1	1	0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	7.549	0.662393	0.14645	.	.	ENSG00000039139	ENST00000265104	T	0.59638	0.25	5.77	3.6	0.41247	.	0.572275	0.20267	N	0.095744	T	0.29588	0.0738	N	0.04746	-0.17	0.34505	D	0.706523	B	0.02656	0.0	B	0.08055	0.003	T	0.28964	-1.0027	10	0.12103	T	0.63	.	7.2681	0.26242	0.1663:0.6913:0.0:0.1424	.	3552	Q8TE73	DYH5_HUMAN	S	3552	ENSP00000265104:A3552S	ENSP00000265104:A3552S	A	-	1	0	DNAH5	13806560	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.400000	0.20932	1.553000	0.49476	0.655000	0.94253	GCC	.		0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
ANKRD55	79722	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	55439737	55439737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr5:55439737C>T	ENST00000341048.4	-	7	654	c.503G>A	c.(502-504)tGg>tAg	p.W168*	RNA5SP184_ENST00000411071.1_RNA|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000513241.2_Nonsense_Mutation_p.W139*|ANKRD55_ENST00000504958.2_Intron	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	168										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GAAAGCCGCCCAGTGGAGTGG	0.532																																					p.W168X		.											.	ANKRD55-91	0			c.G503A						.						225.0	224.0	224.0					5																	55439737		2203	4300	6503	SO:0001587	stop_gained	79722	exon7			GCCGCCCAGTGGA	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.503G>A	5.37:g.55439737C>T	ENSP00000342295:p.Trp168*	117	0		108	23	NM_024669	0	0	0	0	0	B3KVT8|Q3KP45|Q9HAD3	Nonsense_Mutation	SNP	ENST00000341048.4	37	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	C	37	6.176110	0.97348	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000513241	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7597	0.91845	0.0:1.0:0.0:0.0	.	.	.	.	X	168;168;139	.	ENSP00000342295:W168X	W	-	2	0	ANKRD55	55475494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.693000	0.61753	2.518000	0.84900	0.650000	0.86243	TGG	.		0.532	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669	
SOWAHA	134548	hgsc.bcm.edu	37	5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	rs40274	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2.0	3.0	3.0		371	-0.3	0.0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"""Ankyrin repeat domain containing"""	27033	protein-coding gene	gene with protein product			"""ankyrin repeat domain 43"""	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	0	0		5	5	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873	
HMMR	3161	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	162911139	162911139	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr5:162911139A>G	ENST00000358715.3	+	16	1883	c.1847A>G	c.(1846-1848)gAa>gGa	p.E616G	HMMR_ENST00000393915.4_Missense_Mutation_p.E617G|HMMR_ENST00000432118.2_Missense_Mutation_p.E530G|RP11-80G7.1_ENST00000521666.1_RNA|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000353866.3_Missense_Mutation_p.E601G			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	616					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GCAGCTCAGGAACAGCTAAAT	0.299																																					p.E617G		.											.	HMMR-90	0			c.A1850G						.						48.0	51.0	50.0					5																	162911139		2203	4297	6500	SO:0001583	missense	3161	exon16			CTCAGGAACAGCT	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1847A>G	5.37:g.162911139A>G	ENSP00000351554:p.Glu616Gly	159	1		257	87	NM_001142556	0	0	9	10	1	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.605439	0.87157	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81	5.45	5.45	0.79879	.	0.253662	0.46442	D	0.000295	T	0.26774	0.0655	M	0.69823	2.125	0.52501	D	0.99995	D;B;P;P	0.57257	0.979;0.075;0.481;0.481	P;B;B;B	0.54815	0.761;0.046;0.245;0.245	T	0.01269	-1.1400	10	0.72032	D	0.01	-11.7337	15.8008	0.78453	1.0:0.0:0.0:0.0	.	530;617;601;616	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	G	502;601;617;593;530;616	ENSP00000400527:E502G;ENSP00000185942:E601G;ENSP00000377492:E617G;ENSP00000402673:E530G;ENSP00000351554:E616G	ENSP00000185942:E601G	E	+	2	0	HMMR	162843717	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.978000	0.88095	2.189000	0.69895	0.528000	0.53228	GAA	.		0.299	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484	
PPP1R3G	648791	hgsc.bcm.edu	37	6	5086070	5086070	+	Silent	SNP	A	A	G	rs667752		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr6:5086070A>G	ENST00000405617.2	+	1	351	c.351A>G	c.(349-351)gcA>gcG	p.A117A		NM_001145115.1	NP_001138587.1	B7ZBB8	PP13G_HUMAN	protein phosphatase 1, regulatory subunit 3G	117					glucose homeostasis (GO:0042593)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)	cytoplasm (GO:0005737)	glycogen binding (GO:2001069)			kidney(2)	2						CGGAGGACGCACAGCTCGGCC	0.692													G|||	5008	1.0	1.0	1.0	5008	,	,		12505	1.0		1.0	False		,,,				2504	1.0				p.A117A		.											.	PPP1R3G-136	0			c.A351G						.						1.0	2.0	2.0					6																	5086070		400	1062	1462	SO:0001819	synonymous_variant	648791	exon1			GGACGCACAGCTC		CCDS47366.1	6p25.1	2012-04-17	2011-10-04		ENSG00000219607	ENSG00000219607		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14945	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3G"""			11948623	Standard	NM_001145115		Approved		uc011dia.1	B7ZBB8	OTTHUMG00000014172	ENST00000405617.2:c.351A>G	6.37:g.5086070A>G		0	0		7	7	NM_001145115	0	0	0	3	3		Silent	SNP	ENST00000405617.2	37	CCDS47366.1																																																																																			A|0.006;G|0.994		0.692	PPP1R3G-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039740.3	NM_001145115	
MDC1	9656	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	30670918	30670918	+	Missense_Mutation	SNP	C	C	T	rs148600920		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr6:30670918C>T	ENST00000376406.3	-	12	6475	c.5828G>A	c.(5827-5829)cGg>cAg	p.R1943Q	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.R1679Q	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1943	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GGGGATTCCCCGCCCCAGGGC	0.597								Other conserved DNA damage response genes					C|||	1	0.000199681	0.0	0.0	5008	,	,		14143	0.0		0.001	False		,,,				2504	0.0				p.R1943Q		.											.	MDC1-273	0			c.G5828A						.	C	GLN/ARG	1,3015		0,1,1507	58.0	53.0	55.0		5828	3.7	1.0	6	dbSNP_134	55	5,5411		0,5,2703	yes	missense	MDC1	NM_014641.2	43	0,6,4210	TT,TC,CC		0.0923,0.0332,0.0712	probably-damaging	1943/2090	30670918	6,8426	1508	2708	4216	SO:0001583	missense	9656	exon12			ATTCCCCGCCCCA	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5828G>A	6.37:g.30670918C>T	ENSP00000365588:p.Arg1943Gln	234	0		224	20	NM_014641	0	0	27	31	4	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361982	0.82353	3.32E-4	9.23E-4	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	D;D	0.86497	-2.13;-2.13	5.45	3.65	0.41850	BRCT (3);	0.280924	0.19743	N	0.107076	D	0.83496	0.5267	M	0.62154	1.92	0.32702	N	0.512756	D;D	0.89917	0.999;1.0	P;P	0.59643	0.688;0.861	T	0.77691	-0.2493	10	0.22109	T	0.4	-8.5462	7.4979	0.27500	0.0:0.7423:0.0:0.2577	.	1943;920	Q14676;Q14676-4	MDC1_HUMAN;.	Q	1943;1679;1656;1509	ENSP00000365588:R1943Q;ENSP00000365587:R1679Q	ENSP00000365587:R1679Q	R	-	2	0	MDC1	30778897	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	2.103000	0.41806	0.773000	0.33404	0.555000	0.69702	CGG	C|0.999;T|0.001		0.597	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641	
HLA-DRB1	3123	bcgsc.ca	37	6	32548554	32548554	+	Silent	SNP	G	G	T	rs3830126		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr6:32548554G>T	ENST00000360004.5	-	4	837	c.732C>A	c.(730-732)gcC>gcA	p.A244A		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	244					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						TGAACAGCCCGGCCCCAAGGA	0.557										Multiple Myeloma(14;0.17)																											p.A244A		.											.	HLA-DRB1-1	0			c.C732A						.						89.0	103.0	98.0					6																	32548554		1511	2709	4220	SO:0001819	synonymous_variant	3123	exon4			CAGCCCGGCCCCA	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.732C>A	6.37:g.32548554G>T		374	6		482	23	NM_002124	0	0	35	35	0	P01914|Q9MYF5	Silent	SNP	ENST00000360004.5	37	CCDS47409.1																																																																																			.		0.557	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124	
HLA-DRB1	3123	bcgsc.ca	37	6	32548556	32548556	+	Missense_Mutation	SNP	C	C	T	rs3830125		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr6:32548556C>T	ENST00000360004.5	-	4	835	c.730G>A	c.(730-732)Gcc>Acc	p.A244T		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	244					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						AACAGCCCGGCCCCAAGGAAG	0.552										Multiple Myeloma(14;0.17)																											p.A244T		.											.	HLA-DRB1-1	0			c.G730A						.						90.0	104.0	99.0					6																	32548556		1511	2709	4220	SO:0001583	missense	3123	exon4			GCCCGGCCCCAAG	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.730G>A	6.37:g.32548556C>T	ENSP00000353099:p.Ala244Thr	380	7		486	22	NM_002124	0	0	30	30	0	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	6.616	0.482155	0.12581	.	.	ENSG00000196126	ENST00000360004	T	0.00730	5.77	3.98	-0.294	0.12831	.	1.209560	0.05711	N	0.596048	T	0.00967	0.0032	L	0.54323	1.7	0.09310	N	1	B;B;D	0.76494	0.009;0.005;0.999	B;B;D	0.81914	0.03;0.014;0.995	T	0.46176	-0.9210	10	0.62326	D	0.03	.	4.2536	0.10707	0.1362:0.5351:0.2335:0.0951	rs3830125;rs17849963	244;244;244	P04229;Q29974;P01911	2B11_HUMAN;2B1G_HUMAN;2B1F_HUMAN	T	244	ENSP00000353099:A244T	ENSP00000353099:A244T	A	-	1	0	HLA-DRB1	32656534	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.150000	0.16263	-0.354000	0.08212	-0.397000	0.06425	GCC	.		0.552	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124	
BAI3	577	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	69665933	69665933	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr6:69665933G>C	ENST00000370598.1	+	7	2034	c.1213G>C	c.(1213-1215)Gag>Cag	p.E405Q		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	405	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACAGTGGCAAGAGTGGAGTTC	0.517																																					p.E405Q		.											.	BAI3-1148	0			c.G1213C						.						103.0	91.0	95.0					6																	69665933		2203	4300	6503	SO:0001583	missense	577	exon7			TGGCAAGAGTGGA	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1213G>C	6.37:g.69665933G>C	ENSP00000359630:p.Glu405Gln	102	0		69	16	NM_001704	0	0	0	0	0	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483269	0.84854	.	.	ENSG00000135298	ENST00000370598	T	0.54279	0.58	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.63105	0.2483	L	0.50847	1.595	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.63576	-0.6606	10	0.62326	D	0.03	.	19.8472	0.96713	0.0:0.0:1.0:0.0	.	405	O60242	BAI3_HUMAN	Q	405	ENSP00000359630:E405Q	ENSP00000359630:E405Q	E	+	1	0	BAI3	69722654	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.869000	0.99810	2.701000	0.92244	0.591000	0.81541	GAG	.		0.517	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
RPF2	84154	broad.mit.edu	37	6	111346769	111346769	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr6:111346769G>A	ENST00000441448.2	+	10	997	c.905G>A	c.(904-906)aGa>aAa	p.R302K		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	302						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						AAGTCAAAAAGAATTAAAAAA	0.373																																					p.R302K		.											.	RPF2-92	0			c.G905A						.						33.0	36.0	35.0					6																	111346769		2201	4300	6501	SO:0001583	missense	84154	exon10			CAAAAAGAATTAA	AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.905G>A	6.37:g.111346769G>A	ENSP00000402338:p.Arg302Lys	41	4		66	9	NM_032194	1	0	20	21	0	Q5VXN1|Q8N4A1	Missense_Mutation	SNP	ENST00000441448.2	37	CCDS5088.1	.	.	.	.	.	.	.	.	.	.	G	0.066	-1.213817	0.01555	.	.	ENSG00000197498	ENST00000441448	T	0.69435	-0.4	5.8	1.59	0.23543	.	0.584411	0.18981	N	0.125890	T	0.15696	0.0378	N	0.08118	0	0.29496	N	0.85528	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27365	-1.0076	10	0.06365	T	0.9	-11.3072	7.9523	0.30023	0.5182:0.0:0.4818:0.0	.	302;302	A8K800;Q9H7B2	.;RPF2_HUMAN	K	302	ENSP00000402338:R302K	ENSP00000402338:R302K	R	+	2	0	RPF2	111453462	1.000000	0.71417	0.986000	0.45419	0.004000	0.04260	0.951000	0.29135	0.402000	0.25451	-0.251000	0.11542	AGA	.		0.373	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194	
BCLAF1	9774	hgsc.bcm.edu	37	6	136582203	136582396	+	Stop_Codon_Del	DEL	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	-	rs376948280|rs537502804|rs562481221|rs527483217|rs112744301|rs375440569|rs74299323|rs370252607|rs570210520|rs111800140|rs370457195|rs76890371|rs193167212	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr6:136582203_136582396delTGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	ENST00000531224.1	-	0	3010_3060				BCLAF1_ENST00000527759.1_Stop_Codon_Del|BCLAF1_ENST00000031135.9_Stop_Codon_Del|BCLAF1_ENST00000530767.1_Stop_Codon_Del|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Stop_Codon_Del|BCLAF1_ENST00000527536.1_Stop_Codon_Del|BCLAF1_ENST00000353331.4_Stop_Codon_Del	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1						apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTAAAAAAAATGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATTTTATACCTTT	0.299																																					p.920_921del	Colon(142;1534 1789 5427 7063 28491)	.											.	BCLAF1-228	0			c.2758_3016del						.																																			SO:0001567	stop_retained_variant	9774	exon13			AAAAAATGGTGGG	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	Exception_encountered	6.37:g.136582203_136582396delTGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	Exception_encountered	124	0		208	0	NM_014739	0	0	0	0	0	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Frame_Shift_Del	DEL	ENST00000531224.1	37	CCDS5177.1																																																																																			.		0.299	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
TBP	6908	broad.mit.edu	37	6	170871038	170871040	+	In_Frame_Del	DEL	CAA	CAA	-	rs71815788|rs55736770	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr6:170871038_170871040delCAA	ENST00000392092.2	+	3	493_495	c.214_216delCAA	c.(214-216)caadel	p.Q95del	TBP_ENST00000230354.6_In_Frame_Del_p.Q95del|TBP_ENST00000540980.1_In_Frame_Del_p.Q75del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	95	Poly-Gln.		Missing. {ECO:0000269|PubMed:2374612}.	Missing (in Ref. 4; BAG65425). {ECO:0000305}.	cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		gcagcagcagcaacagcaacagc	0.567																																					p.72_72del		.											.	TBP-91	3	Deletion - In frame(3)	ovary(1)|prostate(1)|breast(1)	c.214_216del						.																																			SO:0001651	inframe_deletion	6908	exon3			CAGCAGCAACAGC	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.214_216delCAA	6.37:g.170871038_170871040delCAA	ENSP00000375942:p.Gln95del	103	0		45	7	NM_003194	0	0	0	0	0	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	In_Frame_Del	DEL	ENST00000392092.2	37	CCDS5315.1																																																																																			.		0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194	
EVX1	2128	hgsc.bcm.edu	37	7	27282894	27282894	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr7:27282894C>T	ENST00000496902.4	+	1	731	c.245C>T	c.(244-246)gCc>gTc	p.A82V	EVX1-AS_ENST00000519050.1_RNA|EVX1_ENST00000535619.1_5'Flank|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_Missense_Mutation_p.A82V|EVX1-AS_ENST00000519218.1_RNA|RP1-170O19.17_ENST00000523608.2_lincRNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	82					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						gggccgggcgccgAGCCCCAG	0.776																																					p.A82V		.											.	EVX1-91	0			c.C245T						.						2.0	3.0	3.0					7																	27282894		1608	3331	4939	SO:0001583	missense	2128	exon1			CGGGCGCCGAGCC		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.245C>T	7.37:g.27282894C>T	ENSP00000419266:p.Ala82Val	2	0		20	11	NM_001989	0	0	0	0	0	A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012411	0.35511	.	.	ENSG00000106038	ENST00000496902;ENST00000222761	D	0.91464	-2.85	5.03	5.03	0.67393	.	0.660570	0.16403	N	0.215940	D	0.87253	0.6131	L	0.43152	1.355	0.80722	D	1	B;B	0.30686	0.29;0.139	B;B	0.35413	0.202;0.035	T	0.82870	-0.0243	10	0.20046	T	0.44	-2.5679	13.1573	0.59524	0.0:0.701:0.299:0.0	.	82;82	F8W9J5;P49640	.;EVX1_HUMAN	V	82	ENSP00000419266:A82V	ENSP00000222761:A82V	A	+	2	0	EVX1	27249419	0.987000	0.35691	1.000000	0.80357	0.815000	0.46073	1.598000	0.36740	2.333000	0.79357	0.462000	0.41574	GCC	.		0.776	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3		
EPDR1	54749	hgsc.bcm.edu	37	7	37960577	37960577	+	Silent	SNP	C	C	A	rs147877097	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr7:37960577C>A	ENST00000199448.4	+	1	415	c.36C>A	c.(34-36)ggC>ggA	p.G12G	EPDR1_ENST00000423717.1_Silent_p.G12G|EPDR1_ENST00000559325.1_Silent_p.G132G|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000425345.1_5'Flank	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	12					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCGTCCCGGGCGCCCTGGGTG	0.786													C|||	20	0.00399361	0.0008	0.0159	5008	,	,		11784	0.0		0.007	False		,,,				2504	0.001				p.G12G		.											.	EPDR1-91	0			c.C36A						.	C		8,3816		0,8,1904	4.0	5.0	5.0		396	-1.9	0.0	7	dbSNP_134	5	83,7553		1,81,3736	no	coding-synonymous	EPDR1	NM_017549.4		1,89,5640	AA,AC,CC		1.087,0.2092,0.7941		132/345	37960577	91,11369	1912	3818	5730	SO:0001819	synonymous_variant	54749	exon1			CCCGGGCGCCCTG	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.36C>A	7.37:g.37960577C>A		1	0		37	25	NM_001242946	0	0	4	13	9	A8K4C0|C9JYS3|Q06BL0|Q99M77	Silent	SNP	ENST00000199448.4	37	CCDS5454.2																																																																																			C|0.995;A|0.005		0.786	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549	
AUTS2	26053	broad.mit.edu	37	7	70229821	70229821	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr7:70229821T>C	ENST00000342771.4	+	8	1619	c.1298T>C	c.(1297-1299)cTc>cCc	p.L433P	AUTS2_ENST00000406775.2_Missense_Mutation_p.L433P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	433										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ccgttccccctctccctgccc	0.627																																					p.L433P		.											.	AUTS2-92	0			c.T1298C						.						58.0	51.0	53.0					7																	70229821		2193	4282	6475	SO:0001583	missense	26053	exon8			TCCCCCTCTCCCT	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1298T>C	7.37:g.70229821T>C	ENSP00000344087:p.Leu433Pro	55	10		62	11	NM_001127231	0	0	4	4	0	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.663355	0.47572	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.38240	1.16;1.15	5.21	5.21	0.72293	.	0.213241	0.39210	N	0.001434	T	0.54319	0.1851	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52313	-0.8592	9	.	.	.	-24.2732	14.2863	0.66247	0.0:0.0:0.0:1.0	.	433;433	Q8WXX7-2;Q8WXX7	.;AUTS2_HUMAN	P	433	ENSP00000385263:L433P;ENSP00000344087:L433P	.	L	+	2	0	AUTS2	69867757	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.143000	0.77348	1.981000	0.57761	0.533000	0.62120	CTC	.		0.627	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2		
CYP3A43	64816	broad.mit.edu;bcgsc.ca	37	7	99441808	99441808	+	Silent	SNP	C	C	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr7:99441808C>T	ENST00000354829.2	+	4	364	c.261C>T	c.(259-261)ccC>ccT	p.P87P	CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000312017.5_Silent_p.P87P|CYP3A43_ENST00000222382.5_Silent_p.P87P|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000444905.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	87			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	TCATGGATCCCGACATGATCA	0.428																																					p.P87P		.											.	CYP3A43-92	0			c.C261T						.						100.0	89.0	93.0					7																	99441808		2203	4300	6503	SO:0001819	synonymous_variant	64816	exon4			GGATCCCGACATG	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.261C>T	7.37:g.99441808C>T		210	0		165	7	NM_057096	0	0	0	0	0	Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Silent	SNP	ENST00000354829.2	37	CCDS5676.1																																																																																			.		0.428	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1		
PODXL	5420	hgsc.bcm.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	GGCGAC	GGCGAC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000465001.1_Intron			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																					p.28_30del		.											.	PODXL-136	2	Deletion - In frame(2)	prostate(2)	c.84_89del						.																																			SO:0001651	inframe_deletion	5420	exon1			TGGGAGGGCGACG		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del	1	0		23	12	NM_001018111	0	0	0	0	0	A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	CCDS34755.1																																																																																			.		0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111	
FAM115C	285966	broad.mit.edu	37	7	143417404	143417405	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr7:143417404_143417405delCT	ENST00000441159.2	+	3	1318_1319	c.1252_1253delCT	c.(1252-1254)ctcfs	p.L418fs	FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	418					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CCGCAAGGCGCTCTCTCAATTC	0.53																																					p.418_418del		.											.	FAM115C-68	0			c.1252_1253del						.		,,	39,207		18,3,102					,,	-7.1	0.0			1	22,442		10,2,220	no	frameshift,frameshift,frameshift	FAM115C	NM_173678.2,NM_001130026.2,NM_001130025.1	,,	28,5,322	A1A1,A1R,RR		4.7414,15.8537,8.5915	,,	,,		61,649				SO:0001589	frameshift_variant	285966	exon3			AAGGCGCTCTCTC	AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.1252_1253delCT	7.37:g.143417408_143417409delCT	ENSP00000404265:p.Leu418fs	148	22		166	48	NM_173678	0	0	0	0	0	B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Frame_Shift_Del	DEL	ENST00000441159.2	37																																																																																				.		0.530	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1	NM_173678	
HTR5A	3361	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	154862761	154862761	+	Frame_Shift_Del	DEL	T	T	-			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr7:154862761delT	ENST00000287907.2	+	1	728	c.152delT	c.(151-153)gtgfs	p.V51fs	HTR5A-AS1_ENST00000543018.1_Frame_Shift_Del_p.T85fs|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_Frame_Shift_Del_p.T85fs	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	51					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GGCTTTCTGGTGGCGGCGACG	0.642																																					p.V51fs		.											.	HTR5A-155	0			c.152delT						.						93.0	75.0	81.0					7																	154862761		2203	4300	6503	SO:0001589	frameshift_variant	3361	exon1			TTCTGGTGGCGGC		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.152delT	7.37:g.154862761delT	ENSP00000287907:p.Val51fs	94	0		66	19	NM_024012	0	0	0	0	0	Q2M2D2	Frame_Shift_Del	DEL	ENST00000287907.2	37	CCDS5936.1																																																																																			.		0.642	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012	
PKHD1L1	93035	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	110520019	110520019	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr8:110520019G>T	ENST00000378402.5	+	69	11226	c.11122G>T	c.(11122-11124)Gac>Tac	p.D3708Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3708					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATATGAATGGGACGGAAACAG	0.438										HNSCC(38;0.096)																											p.D3708Y		.											.	PKHD1L1-145	0			c.G11122T						.						127.0	120.0	122.0					8																	110520019		1883	4118	6001	SO:0001583	missense	93035	exon69			GAATGGGACGGAA	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11122G>T	8.37:g.110520019G>T	ENSP00000367655:p.Asp3708Tyr	257	1		189	73	NM_177531	0	0	0	0	0	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791209	0.50102	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.87887	-2.31;-2.15	5.4	0.365	0.16131	.	0.513255	0.20289	N	0.095282	D	0.85097	0.5619	M	0.68593	2.085	0.34432	D	0.698623	P	0.42078	0.77	B	0.43536	0.423	D	0.85003	0.0901	10	0.72032	D	0.01	.	8.9227	0.35621	0.5418:0.0:0.4582:0.0	.	3708	Q86WI1	PKHL1_HUMAN	Y	3708;636	ENSP00000367655:D3708Y;ENSP00000437376:D636Y	ENSP00000367655:D3708Y	D	+	1	0	PKHD1L1	110589195	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	1.025000	0.30090	-0.099000	0.12263	-0.793000	0.03317	GAC	.		0.438	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
CSMD3	114788	bcgsc.ca	37	8	113655752	113655752	+	Intron	SNP	T	T	C	rs10505168	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr8:113655752T>C	ENST00000297405.5	-	20	3555				CSMD3_ENST00000455883.2_Intron|MIR2053_ENST00000459295.1_RNA|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTAATTAACATTTGCAACCTG	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C|||	1937	0.386781	0.5408	0.3069	5008	,	,		17015	0.4395		0.2763	False		,,,				2504	0.2945				.		.											.	.	0			.						.	C	,,	636,748		139,358,195	69.0	69.0	69.0		,,	4.2	1.0	8	dbSNP_119	69	921,2261		135,651,805	no	intron,intron,intron	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	,,	274,1009,1000	CC,CT,TT		28.9441,45.9538,34.0999	,,	,,	113655752	1557,3009	692	1591	2283	SO:0001627	intron_variant	100302225	.			TTAACATTTGCAA	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3310+1585A>G	8.37:g.113655752T>C		145	0		94	7	.	0	0	0	0	0	Q96PZ3	RNA	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																			T|0.621;C|0.379		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
MURC	347273	broad.mit.edu;bcgsc.ca	37	9	103340763	103340763	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr9:103340763A>T	ENST00000307584.5	+	1	403	c.338A>T	c.(337-339)cAt>cTt	p.H113L	RN7SKP87_ENST00000364096.1_RNA	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	113					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				CAACAAATTCATGTTAAAAAA	0.378																																					p.H113L		.											.	MURC-69	0			c.A338T						.						50.0	52.0	51.0					9																	103340763		2203	4300	6503	SO:0001583	missense	347273	exon1			AAATTCATGTTAA	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.338A>T	9.37:g.103340763A>T	ENSP00000418668:p.His113Leu	102	2		172	61	NM_001018116	0	0	0	0	0	B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	A	9.124	1.009823	0.19277	.	.	ENSG00000170681	ENST00000307584	T	0.58506	0.33	5.09	3.96	0.45880	.	0.302333	0.36815	N	0.002390	T	0.31857	0.0810	N	0.08118	0	0.09310	N	1	B	0.34015	0.435	B	0.25140	0.058	T	0.22661	-1.0210	10	0.72032	D	0.01	-12.2696	8.4566	0.32903	0.9048:0.0:0.0952:0.0	.	113	Q5BKX8	MURC_HUMAN	L	113	ENSP00000418668:H113L	ENSP00000418668:H113L	H	+	2	0	MURC	102380584	0.408000	0.25360	0.037000	0.18230	0.903000	0.53119	2.894000	0.48640	0.911000	0.36747	0.533000	0.62120	CAT	.		0.378	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116	
COL27A1	85301	bcgsc.ca	37	9	116930100	116930100	+	Missense_Mutation	SNP	G	G	A	rs2567707	byFrequency	TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr9:116930100G>A	ENST00000356083.3	+	3	656	c.265G>A	c.(265-267)Gtc>Atc	p.V89I		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	89	Laminin G-like.		V -> I (in dbSNP:rs2567707).		extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CACGGGCACCGTCATTCCTGC	0.662													G|||	678	0.135383	0.1634	0.1427	5008	,	,		16185	0.001		0.2704	False		,,,				2504	0.092				p.V89I		.											.	COL27A1-94	0			c.G265A						.	G	ILE/VAL	732,3674	296.4+/-284.2	61,610,1532	56.0	62.0	60.0		265	0.9	0.0	9	dbSNP_100	60	2199,6401	364.2+/-333.4	272,1655,2373	yes	missense	COL27A1	NM_032888.2	29	333,2265,3905	AA,AG,GG		25.5698,16.6137,22.5358	benign	89/1861	116930100	2931,10075	2203	4300	6503	SO:0001583	missense	85301	exon3			GGCACCGTCATTC	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.265G>A	9.37:g.116930100G>A	ENSP00000348385:p.Val89Ile	86	0		88	5	NM_032888	0	0	0	0	0	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	332	0.152014652014652	82	0.16666666666666666	61	0.1685082872928177	1	0.0017482517482517483	188	0.24802110817941952	G	1.272	-0.612896	0.03690	0.166137	0.255698	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	T;T	0.02140	4.43;4.43	5.32	0.882	0.19172	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	.	.	.	.	T	0.00012	0.0000	N	0.20610	0.595	0.80722	P	0.0	B	0.22211	0.066	B	0.11329	0.006	T	0.44143	-0.9347	8	0.20046	T	0.44	.	8.2128	0.31494	0.4585:0.0:0.5415:0.0	rs2567707;rs17801084;rs52825865;rs57459248;rs2567707	89	Q8IZC6	CORA1_HUMAN	I	89;89;36;36	ENSP00000348385:V89I;ENSP00000391328:V36I	ENSP00000348385:V89I	V	+	1	0	COL27A1	115969921	0.001000	0.12720	0.011000	0.14972	0.085000	0.17905	-0.062000	0.11674	0.249000	0.21456	-0.439000	0.05793	GTC	G|0.811;A|0.189		0.662	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
TNC	3371	broad.mit.edu	37	9	117853265	117853265	+	Silent	SNP	G	G	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr9:117853265G>T	ENST00000350763.4	-	2	444	c.33C>A	c.(31-33)gtC>gtA	p.V11V	TNC_ENST00000535648.1_Silent_p.V11V|TNC_ENST00000537320.1_Silent_p.V11V|TNC_ENST00000340094.3_Silent_p.V11V|TNC_ENST00000341037.4_Silent_p.V11V|TNC_ENST00000423613.2_Silent_p.V11V|TNC_ENST00000346706.3_Silent_p.V11V|TNC_ENST00000345230.3_Silent_p.V11V|TNC_ENST00000542877.1_Silent_p.V11V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	11					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AAGCAAGAAAGACACCTGCCA	0.582																																					p.V11V		.											.	TNC-517	0			c.C33A						.						40.0	40.0	40.0					9																	117853265		2203	4300	6503	SO:0001819	synonymous_variant	3371	exon2			AAGAAAGACACCT		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.33C>A	9.37:g.117853265G>T		39	0		42	4	NM_002160	0	0	1	1	0	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1																																																																																			.		0.582	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
VCX3B	425054	bcgsc.ca	37	X	8434367	8434367	+	Silent	SNP	C	C	T	rs139169782		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chrX:8434367C>T	ENST00000381032.1	+	3	991	c.684C>T	c.(682-684)agC>agT	p.S228S	VCX3B_ENST00000444481.1_Silent_p.S198S|VCX3B_ENST00000440654.2_Intron|VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000381029.4_Silent_p.S196S	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	228	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GTCAGGAGAGCGAGATGGAAG	0.557													-|||	923	0.244503	0.0968	0.147	3775	,	,		6423	0.2887		0.1173	False		,,,				2504	0.2904				p.S228S		.											.	.	0			c.C684T						.	C		600,2579		158,223,61,977,402	108.0	222.0	187.0		684	-0.6	0.0	X	dbSNP_134	187	808,5694		89,402,228,1896,1500	no	coding-synonymous	VCX3B	NM_001001888.3		247,625,289,2873,1902	TT,TC,T,CC,C		12.4269,18.8739,14.544		228/247	8434367	1408,8273	1821	4115	5936	SO:0001819	synonymous_variant	425054	exon3			GGAGAGCGAGATG		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.684C>T	X.37:g.8434367C>T		882	10		449	11	NM_001001888	0	0	0	0	0	C9JS46|Q4KN12	Silent	SNP	ENST00000381032.1	37	CCDS48077.2																																																																																			C|0.778;T|0.222		0.557	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1		
WDR44	54521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	117570692	117570692	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chrX:117570692G>C	ENST00000254029.3	+	14	2274	c.1879G>C	c.(1879-1881)Gat>Cat	p.D627H	WDR44_ENST00000371825.3_Missense_Mutation_p.D627H|WDR44_ENST00000371822.5_Missense_Mutation_p.D602H	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	627						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TTCTTCAATGGATAAAACAGT	0.328																																					p.D627H		.											.	WDR44-133	0			c.G1879C						.						118.0	104.0	109.0					X																	117570692		2202	4298	6500	SO:0001583	missense	54521	exon14			TCAATGGATAAAA	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.1879G>C	X.37:g.117570692G>C	ENSP00000254029:p.Asp627His	159	0		157	70	NM_001184965	0	0	1	2	1	B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.724994|4.724994	0.89298|0.89298	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825;ENST00000318919|ENST00000371848	D;D;D|.	0.89415|.	-2.51;-2.51;-2.51|.	5.58|5.58	5.58|5.58	0.84498|0.84498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90383|0.90383	0.6990|0.6990	H|H	0.97732|0.97732	4.065|4.065	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.93629|0.93629	0.6954|0.6954	10|5	0.87932|.	D|.	0|.	-0.0813|-0.0813	18.8529|18.8529	0.92240|0.92240	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	602;627;627;627|.	F8W913;E9PCI7;Q5JSH3-2;Q5JSH3|.	.;.;.;WDR44_HUMAN|.	H|A	602;627;627;13|526	ENSP00000360887:D602H;ENSP00000254029:D627H;ENSP00000360890:D627H|.	ENSP00000254029:D627H|.	D|G	+|+	1|2	0|0	WDR44|WDR44	117454720|117454720	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.751000|9.751000	0.98889|0.98889	2.485000|2.485000	0.83878|0.83878	0.591000|0.591000	0.81541|0.81541	GAT|GGA	.		0.328	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045	
PIK3C3	5289	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	18	39637866	39637867	+	Frame_Shift_Ins	INS	-	-	T			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr18:39637866_39637867insT	ENST00000262039.4	+	22	2369_2370	c.2283_2284insT	c.(2284-2286)tttfs	p.F762fs	PIK3C3_ENST00000398870.3_Frame_Shift_Ins_p.F699fs|PIK3C3_ENST00000588156.1_5'UTR|PIK3C3_ENST00000593098.1_Frame_Shift_Ins_p.F247fs	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	762	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TCCACATAGACTTTGGATATAT	0.406										TSP Lung(28;0.18)																											p.D761fs	NSCLC(37;552 1060 2683 16430 37914)	.											.	PIK3C3-1312	0			c.2283_2284insT						.																																			SO:0001589	frameshift_variant	5289	exon22			CATAGACTTTGGA	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2286dupT	18.37:g.39637869_39637869dupT	ENSP00000262039:p.Phe762fs	76	0		47	12	NM_002647	0	0	0	0	0	Q15134	Frame_Shift_Ins	INS	ENST00000262039.4	37	CCDS11920.1																																																																																			.		0.406	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647	
HADHA	3030	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	26418025	26418026	+	In_Frame_Ins	INS	-	-	TGGAAA			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr2:26418025_26418026insTGGAAA	ENST00000380649.3	-	15	1684_1685	c.1555_1556insTTTCCA	c.(1555-1557)aaa>aTTTCCAaa	p.518_519insIS		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	518					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGGTGTCTTTGGAAGTTTTC	0.495																																					p.K519delinsISK		.											.	HADHA-91	0			c.1556_1557insTTTCCA						.																																			SO:0001652	inframe_insertion	3030	exon15			GTGTCTTTGGAAG	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.1555_1556insTTTCCA	2.37:g.26418025_26418026insTGGAAA	ENSP00000370023:p.Ser518_Lys519insIleSer	211	0		151	23	NM_000182	0	0	0	0	0	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	In_Frame_Ins	INS	ENST00000380649.3	37	CCDS1721.1																																																																																			.		0.495	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182	
CCDC150	284992	hgsc.bcm.edu	37	2	197531518	197531519	+	Frame_Shift_Ins	INS	-	-	A	rs75642251|rs376590781		TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr2:197531518_197531519insA	ENST00000389175.4	+	7	973_974	c.838_839insA	c.(838-840)caafs	p.Q280fs	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	280										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCCCAGGAACAAAAAAAAAAA	0.371																																					p.Q280fs		.											.	.	0			c.838_839insA						.																																			SO:0001589	frameshift_variant	284992	exon7			CAGGAACAAAAAA		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.849dupA	2.37:g.197531529_197531529dupA	ENSP00000373827:p.Gln280fs	153	0		395	0	NM_001080539	0	0	0	0	0	Q6P5U6|Q6P663|Q8N8V5	Frame_Shift_Ins	INS	ENST00000389175.4	37	CCDS46478.1																																																																																			.		0.371	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539	
NSD1	64324	hgsc.bcm.edu	37	5	176722232	176722233	+	In_Frame_Ins	INS	-	-	CAA			TCGA-OR-A5J7-01A-11D-A29I-10	TCGA-OR-A5J7-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	00b8b899-6191-4169-91bd-a507c326e44d	70d268da-65d7-4e91-a743-63c901185bfd	g.chr5:176722232_176722233insCAA	ENST00000439151.2	+	23	7908_7909	c.7863_7864insCAA	c.(7864-7866)caa>CAAcaa	p.2622_2622Q>QQ	NSD1_ENST00000347982.4_In_Frame_Ins_p.2353_2353Q>QQ|NSD1_ENST00000361032.4_In_Frame_Ins_p.2519_2519Q>QQ|NSD1_ENST00000354179.4_In_Frame_Ins_p.2353_2353Q>QQ	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2622					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TAACCACAGAGCAAAGTCCCTG	0.584			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.E2621delinsEQ		.		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	NSD1-188	0			c.7863_7864insCAA						.																																			SO:0001652	inframe_insertion	64324	exon23	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	CACAGAGCAAAGT	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7864_7866dupCAA	5.37:g.176722233_176722235dupCAA	ENSP00000395929:p.Gln2622dup	112	2		238	45	NM_022455	0	0	0	0	0	Q96PD8|Q96RN7	In_Frame_Ins	INS	ENST00000439151.2	37	CCDS4412.1																																																																																			.		0.584	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
