#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_Mutation_Status	i_NTotCov	i_NVarCov	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ESPN	83715	ucsc.edu	37	1	6512054	6512054	+	Silent	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr1:6512054C>T	ENST00000377828.1	+	10	2391	c.2223C>T	c.(2221-2223)ccC>ccT	p.P741P	ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000416731.1_Silent_p.P175P|ESPN_ENST00000461727.1_Silent_p.P175P	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	741					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTCATCCCCACGCACGATG	0.657																																					p.P741P													.	ESPN-514	0			c.C2223T						.						22.0	24.0	23.0					1																	6512054		2202	4299	6501	SO:0001819	synonymous_variant	83715	exon10			CATCCCCACGCAC	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2223C>T	1.37:g.6512054C>T		Somatic	19	0		WXS	Illumina HiSeq		11	4	NM_031475	0	0	4	7	3	Q6XYB2|Q9H0A2|Q9Y329	Silent	SNP	ENST00000377828.1	37	CCDS70.1	.	.	.	.	.	.	.	.	.	.	C	9.229	1.035281	0.19590	.	.	ENSG00000187017	ENST00000434576	.	.	.	5.14	3.25	0.37280	.	.	.	.	.	T	0.55577	0.1929	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47923	-0.9079	4	.	.	.	-29.8002	6.8679	0.24104	0.4151:0.5027:0.0:0.0823	.	.	.	.	Y	85	.	.	H	+	1	0	ESPN	6434641	0.946000	0.32159	0.974000	0.42286	0.733000	0.41908	0.080000	0.14802	0.552000	0.29026	-0.424000	0.05967	CAC	.		0.657	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475	
AGL	178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	100346675	100346675	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr1:100346675C>G	ENST00000294724.4	+	15	2421	c.1943C>G	c.(1942-1944)tCt>tGt	p.S648C	AGL_ENST00000370161.2_Missense_Mutation_p.S632C|AGL_ENST00000361915.3_Missense_Mutation_p.S648C|AGL_ENST00000361522.4_Missense_Mutation_p.S631C|AGL_ENST00000370165.3_Missense_Mutation_p.S648C|AGL_ENST00000361302.3_Missense_Mutation_p.S632C|AGL_ENST00000370163.3_Missense_Mutation_p.S648C	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	648					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ACAATTGTTTCTATGGCATGT	0.368																																					p.S648C		.											.	AGL-92	0			c.C1943G						.						180.0	165.0	170.0					1																	100346675		2203	4300	6503	SO:0001583	missense	178	exon15			TTGTTTCTATGGC	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.1943C>G	1.37:g.100346675C>G	ENSP00000294724:p.Ser648Cys	Somatic	104	0		WXS	Illumina HiSeq	Phase_I	96	44	NM_000644	0	0	14	18	4	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.355191	0.41700	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	6.01	6.01	0.97437	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.049923	0.85682	D	0.000000	D	0.89681	0.6785	M	0.62723	1.935	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.72625	0.978;0.978;0.95	D	0.90138	0.4211	10	0.87932	D	0	.	15.6295	0.76893	0.0:0.9327:0.0:0.0673	.	631;632;648	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	C	648;648;648;648;632;632;631	ENSP00000355106:S648C;ENSP00000359184:S648C;ENSP00000359182:S648C;ENSP00000294724:S648C;ENSP00000354971:S632C;ENSP00000359180:S632C;ENSP00000354635:S631C	ENSP00000294724:S648C	S	+	2	0	AGL	100119263	1.000000	0.71417	0.805000	0.32314	0.062000	0.15995	5.550000	0.67268	2.850000	0.98022	0.655000	0.94253	TCT	.		0.368	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028	
TMEM79	84283	broad.mit.edu	37	1	156256105	156256105	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr1:156256105G>C	ENST00000405535.2	+	3	983	c.812G>C	c.(811-813)gGg>gCg	p.G271A	TMEM79_ENST00000295694.5_Missense_Mutation_p.G271A|TMEM79_ENST00000357501.2_Missense_Mutation_p.W32C|TMEM79_ENST00000495881.1_3'UTR	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	271					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)		p.G271E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CGGCCCTTTGGGGAGCCACGG	0.577																																					p.G271A													.	TMEM79-90	1	Substitution - Missense(1)	lung(1)	c.G812C						.						105.0	103.0	104.0					1																	156256105		2203	4300	6503	SO:0001583	missense	84283	exon3			CCTTTGGGGAGCC	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.812G>C	1.37:g.156256105G>C	ENSP00000384748:p.Gly271Ala	Somatic	143	0		WXS	Illumina HiSeq	Phase_I	106	3	NM_032323	0	0	3	3	0	B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	CCDS1138.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.563|5.563	0.288740|0.288740	0.10513|0.10513	.|.	.|.	ENSG00000163472|ENSG00000163472	ENST00000295694;ENST00000405535|ENST00000357501;ENST00000456810	T;T|.	0.41065|.	1.01;1.01|.	5.93|5.93	0.478|0.478	0.16789|0.16789	.|.	0.639785|.	0.17656|.	N|.	0.166517|.	T|T	0.03564|0.03564	0.0102|0.0102	N|N	0.01352|0.01352	-0.895|-0.895	0.18873|0.18873	N|N	0.999988|0.999988	B|.	0.18863|.	0.031|.	B|.	0.19666|.	0.026|.	T|T	0.35674|0.35674	-0.9779|-0.9779	10|6	0.02654|0.87932	T|D	1|0	-7.6688|-7.6688	7.3474|7.3474	0.26670|0.26670	0.149:0.3975:0.4535:0.0|0.149:0.3975:0.4535:0.0	.|.	271|.	Q9BSE2|.	TMM79_HUMAN|.	A|C	271|32	ENSP00000295694:G271A;ENSP00000384748:G271A|.	ENSP00000295694:G271A|ENSP00000350100:W32C	G|W	+|+	2|3	0|0	TMEM79|TMEM79	154522729|154522729	0.243000|0.243000	0.23878|0.23878	0.081000|0.081000	0.20488|0.20488	0.992000|0.992000	0.81027|0.81027	0.649000|0.649000	0.24843|0.24843	0.100000|0.100000	0.17581|0.17581	0.561000|0.561000	0.74099|0.74099	GGG|TGG	.		0.577	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323	
PRRC2C	23215	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	171535917	171535917	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr1:171535917G>A	ENST00000338920.4	+	22	6724	c.6487G>A	c.(6487-6489)Gaa>Aaa	p.E2163K	PRRC2C_ENST00000426496.2_Missense_Mutation_p.E2163K|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E2165K|PRRC2C_ENST00000367742.3_Missense_Mutation_p.E2165K	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2163					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGCAGTCTCAGAAATGTCTAC	0.448																																					p.E2163K		.											.	.	0			c.G6487A						.						77.0	69.0	71.0					1																	171535917		2203	4300	6503	SO:0001583	missense	23215	exon22			GTCTCAGAAATGT	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.6487G>A	1.37:g.171535917G>A	ENSP00000343629:p.Glu2163Lys	Somatic	49	0		WXS	Illumina HiSeq	Phase_I	37	11	NM_015172	0	0	18	42	24	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627687	0.66901	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.03124	4.25;4.04;4.27;4.27	5.6	5.6	0.85130	.	0.000000	0.46145	D	0.000303	T	0.10551	0.0258	L	0.59436	1.845	0.58432	D	0.999995	D	0.89917	1.0	D	0.85130	0.997	T	0.12372	-1.0550	10	0.36615	T	0.2	.	19.6251	0.95674	0.0:0.0:1.0:0.0	.	2163	Q9Y520-4	.	K	2165;2117;2163;2165;2163;1920	ENSP00000375928:E2165K;ENSP00000410219:E2163K;ENSP00000356716:E2165K;ENSP00000343629:E2163K	ENSP00000343629:E2163K	E	+	1	0	PRRC2C	169802541	1.000000	0.71417	0.992000	0.48379	0.510000	0.34073	9.236000	0.95360	2.636000	0.89361	0.655000	0.94253	GAA	.		0.448	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172	
AGT	183	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	230841797	230841797	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr1:230841797A>T	ENST00000366667.4	-	3	1220	c.1006T>A	c.(1006-1008)Ttc>Atc	p.F336I		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	336					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTCTCAGTGAAGGGCACTTGA	0.562																																					p.F336I		.											.	AGT-226	0			c.T1006A						.						110.0	104.0	106.0					1																	230841797		2203	4300	6503	SO:0001583	missense	183	exon3			CAGTGAAGGGCAC	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.1006T>A	1.37:g.230841797A>T	ENSP00000355627:p.Phe336Ile	Somatic	146	0		WXS	Illumina HiSeq	Phase_I	126	57	NM_000029	0	0	21	51	30	Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	37	CCDS1585.1	.	.	.	.	.	.	.	.	.	.	A	8.200	0.797970	0.16327	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.84800	-1.9	5.17	-4.42	0.03579	Serpin domain (3);	0.408163	0.24752	N	0.035897	T	0.66005	0.2746	N	0.14661	0.345	0.09310	N	1	B;B;B	0.26258	0.094;0.145;0.094	B;B;B	0.25140	0.044;0.058;0.044	T	0.54556	-0.8276	10	0.34782	T	0.22	.	7.5483	0.27781	0.1397:0.142:0.6158:0.1025	.	336;336;336	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	I	336;254	ENSP00000355627:F336I	ENSP00000355627:F336I	F	-	1	0	AGT	228908420	0.002000	0.14202	0.012000	0.15200	0.007000	0.05969	-0.319000	0.08039	-0.831000	0.04256	-0.250000	0.11733	TTC	.		0.562	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029	
DIP2C	22982	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	375449	375449	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr10:375449A>T	ENST00000280886.6	-	30	3764	c.3677T>A	c.(3676-3678)gTc>gAc	p.V1226D		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1226						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGTGTCTCGGACTTTGTACTG	0.577																																					p.V1226D		.											.	DIP2C-156	0			c.T3677A						.						64.0	55.0	58.0					10																	375449		2203	4300	6503	SO:0001583	missense	22982	exon30			TCTCGGACTTTGT	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3677T>A	10.37:g.375449A>T	ENSP00000280886:p.Val1226Asp	Somatic	32	0		WXS	Illumina HiSeq	Phase_I	54	24	NM_014974	0	0	16	27	11	B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	34|34	5.376544|5.376544	0.95945|0.95945	.|.	.|.	ENSG00000151240|ENSG00000151240	ENST00000434695|ENST00000280886;ENST00000535541;ENST00000381503	.|T	.|0.51574	.|0.7	5.84|5.84	5.84|5.84	0.93424|0.93424	.|AMP-dependent synthetase/ligase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67211|0.67211	0.2869|0.2869	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	.|D	.|0.60575	.|0.988	.|D	.|0.71656	.|0.974	T|T	0.69749|0.69749	-0.5061|-0.5061	5|10	.|0.66056	.|D	.|0.02	-39.2182|-39.2182	16.2141|16.2141	0.82191|0.82191	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1226	.|Q9Y2E4	.|DIP2C_HUMAN	R|D	31|1226;151;75	.|ENSP00000280886:V1226D	.|ENSP00000280886:V1226D	S|V	-|-	3|2	2|0	DIP2C|DIP2C	365449|365449	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.841000|0.841000	0.47740|0.47740	9.339000|9.339000	0.96797|0.96797	2.230000|2.230000	0.72887|0.72887	0.528000|0.528000	0.53228|0.53228	AGT|GTC	.		0.577	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974	
ZEB1	6935	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	31812949	31812949	+	Missense_Mutation	SNP	G	G	T	rs35653460		TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr10:31812949G>T	ENST00000320985.10	+	8	2800	c.2690G>T	c.(2689-2691)cGg>cTg	p.R897L	ZEB1_ENST00000361642.5_Missense_Mutation_p.R898L|ZEB1_ENST00000560721.2_Missense_Mutation_p.R877L|ZEB1_ENST00000446923.2_Missense_Mutation_p.R881L|ZEB1_ENST00000542815.3_Missense_Mutation_p.R830L			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	897					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R897Q(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAGAAAATGCGGAAGACAGAA	0.373																																					p.R898L	Ovarian(40;423 959 14296 36701 49589)	.											.	ZEB1-518	1	Substitution - Missense(1)	large_intestine(1)	c.G2693T						.						111.0	111.0	111.0					10																	31812949		2203	4300	6503	SO:0001583	missense	6935	exon8			AAATGCGGAAGAC	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2690G>T	10.37:g.31812949G>T	ENSP00000319248:p.Arg897Leu	Somatic	140	0		WXS	Illumina HiSeq	Phase_I	147	59	NM_001174096	0	0	7	13	6	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777667	0.70107	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	5.72	4.8	0.61643	.	0.369405	0.21055	N	0.080939	T	0.15435	0.0372	L	0.27053	0.805	0.41478	D	0.988147	D;P;B;P;P	0.69078	0.997;0.826;0.208;0.826;0.826	D;B;B;B;B	0.69824	0.966;0.334;0.09;0.334;0.177	T	0.02901	-1.1096	10	0.52906	T	0.07	-12.9237	10.1047	0.42526	0.071:0.1383:0.7907:0.0	.	830;881;877;898;897	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	L	679;897;898;892;830;897;877;788;881	ENSP00000444282:R679L;ENSP00000354487:R898L;ENSP00000444891:R830L;ENSP00000319248:R897L;ENSP00000391612:R881L	ENSP00000319248:R897L	R	+	2	0	ZEB1	31852955	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.665000	0.68052	1.410000	0.46936	0.585000	0.79938	CGG	G|0.987;A|0.013		0.373	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751	
SLK	9748	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	105763115	105763115	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr10:105763115G>A	ENST00000369755.3	+	9	2724	c.2179G>A	c.(2179-2181)Ggt>Agt	p.G727S	SLK_ENST00000335753.4_Missense_Mutation_p.G727S	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	727					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGAAGAAATAGGTTCTTTATC	0.393																																					p.G727S	NSCLC(111;540 1651 1927 4474 17706)	.											.	SLK-549	0			c.G2179A						.						47.0	50.0	49.0					10																	105763115		2203	4299	6502	SO:0001583	missense	9748	exon9			GAAATAGGTTCTT		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.2179G>A	10.37:g.105763115G>A	ENSP00000358770:p.Gly727Ser	Somatic	76	1		WXS	Illumina HiSeq	Phase_I	68	31	NM_014720	0	0	18	35	17	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	6.141	0.394210	0.11638	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.70749	-0.5;-0.51	5.71	2.88	0.33553	Protein kinase-like domain (1);	0.453038	0.24499	N	0.037999	T	0.53094	0.1775	L	0.48642	1.525	0.09310	N	1	P;B	0.35872	0.525;0.39	B;B	0.34418	0.182;0.089	T	0.44726	-0.9309	10	0.05833	T	0.94	.	6.1926	0.20532	0.2151:0.1347:0.6502:0.0	.	727;727	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	S	727	ENSP00000336824:G727S;ENSP00000358770:G727S	ENSP00000336824:G727S	G	+	1	0	SLK	105753105	0.842000	0.29525	0.931000	0.37212	0.035000	0.12851	2.556000	0.45862	0.781000	0.33589	0.555000	0.69702	GGT	.		0.393	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
SEC23IP	11196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	121692658	121692658	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr10:121692658T>C	ENST00000369075.3	+	17	2972	c.2900T>C	c.(2899-2901)cTt>cCt	p.L967P	SEC23IP_ENST00000543134.1_Missense_Mutation_p.L756P|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	967	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CTTTTCGCTCTTCAGAGTCAC	0.383																																					p.L967P		.											.	SEC23IP-93	0			c.T2900C						.						128.0	125.0	126.0					10																	121692658		2203	4300	6503	SO:0001583	missense	11196	exon17			TCGCTCTTCAGAG	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2900T>C	10.37:g.121692658T>C	ENSP00000358071:p.Leu967Pro	Somatic	128	0		WXS	Illumina HiSeq	Phase_I	152	68	NM_007190	0	0	13	25	12	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	T	18.64	3.667691	0.67814	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.39406	1.08;1.12	5.28	4.14	0.48551	DDHD (2);	0.000000	0.85682	D	0.000000	T	0.65831	0.2729	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	T	0.69254	-0.5193	10	0.62326	D	0.03	-23.9312	11.2264	0.48886	0.0:0.0726:0.0:0.9274	.	756;967	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	P	967;756	ENSP00000358071:L967P;ENSP00000438773:L756P	ENSP00000358071:L967P	L	+	2	0	SEC23IP	121682648	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.655000	0.83696	0.950000	0.37743	-0.256000	0.11100	CTT	.		0.383	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1		
ADAM12	8038	broad.mit.edu;ucsc.edu	37	10	127789653	127789653	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr10:127789653G>A	ENST00000368679.4	-	9	1217	c.908C>T	c.(907-909)gCg>gTg	p.A303V	ADAM12_ENST00000368676.4_Missense_Mutation_p.A303V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	303	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.A303V(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GACAAGCTGCGCATTGTCATG	0.507																																					p.A303V													.	ADAM12-716	3	Substitution - Missense(3)	central_nervous_system(3)	c.C908T						.						88.0	77.0	81.0					10																	127789653		2203	4300	6503	SO:0001583	missense	8038	exon9			AGCTGCGCATTGT	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.908C>T	10.37:g.127789653G>A	ENSP00000357668:p.Ala303Val	Somatic	71	0		WXS	Illumina HiSeq	Phase_I	62	6	NM_021641	0	0	0	0	0	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394450	0.83011	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.69040	-0.37;-0.37	5.32	5.32	0.75619	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.79862	0.4519	L	0.56280	1.765	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	T	0.80834	-0.1205	10	0.87932	D	0	.	19.1925	0.93672	0.0:0.0:1.0:0.0	.	300;300;303;300;303	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	V	303	ENSP00000357668:A303V;ENSP00000357665:A303V	ENSP00000357665:A303V	A	-	2	0	ADAM12	127779643	1.000000	0.71417	0.205000	0.23548	0.253000	0.25986	7.692000	0.84203	2.767000	0.95098	0.655000	0.94253	GCG	.		0.507	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1		
DOCK1	1793	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	128788791	128788791	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr10:128788791C>G	ENST00000280333.6	+	6	506	c.397C>G	c.(397-399)Ctt>Gtt	p.L133V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	133					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATCACAAATTCTTTCTGGAAC	0.393																																					p.L133V		.											.	DOCK1-698	0			c.C397G						.						109.0	103.0	105.0					10																	128788791		1909	4134	6043	SO:0001583	missense	1793	exon6			CAAATTCTTTCTG	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.397C>G	10.37:g.128788791C>G	ENSP00000280333:p.Leu133Val	Somatic	48	0		WXS	Illumina HiSeq	Phase_I	29	12	NM_001380	0	0	8	17	9	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37		.	.	.	.	.	.	.	.	.	.	C	14.43	2.532331	0.45073	.	.	ENSG00000150760	ENST00000280333	T	0.47177	0.85	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.47911	0.1471	L	0.61218	1.895	0.53688	D	0.999978	B;B	0.28850	0.122;0.225	B;B	0.26202	0.067;0.061	T	0.52366	-0.8585	10	0.51188	T	0.08	.	17.7282	0.88370	0.0:1.0:0.0:0.0	.	133;133	B2RUU3;Q14185	.;DOCK1_HUMAN	V	133	ENSP00000280333:L133V	ENSP00000280333:L133V	L	+	1	0	DOCK1	128678781	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	4.454000	0.60068	2.510000	0.84645	0.555000	0.69702	CTT	.		0.393	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380	
OR56A1	120796	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	6048449	6048449	+	Silent	SNP	A	A	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr11:6048449A>G	ENST00000316650.5	-	1	522	c.486T>C	c.(484-486)ctT>ctC	p.L162L		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	162						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)		TGGGTGCAGTAAGAAGCGCAT	0.498																																					p.L162L		.											.	OR56A1-115	0			c.T486C						.						142.0	125.0	131.0					11																	6048449		2201	4296	6497	SO:0001819	synonymous_variant	120796	exon1			TGCAGTAAGAAGC	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.486T>C	11.37:g.6048449A>G		Somatic	148	0		WXS	Illumina HiSeq	Phase_I	125	56	NM_001001917	0	0	0	0	0	B2RNI2|Q6IFL0	Silent	SNP	ENST00000316650.5	37	CCDS31405.1																																																																																			.		0.498	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917	
MSANTD4	84437	broad.mit.edu	37	11	105881299	105881299	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr11:105881299C>G	ENST00000301919.4	-	2	1761	c.346G>C	c.(346-348)Gga>Cga	p.G116R	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	116						nucleus (GO:0005634)											TTTCGGAATCCAATCTTTTCA	0.443																																					p.G116R													.	.	0			c.G346C						.						141.0	143.0	142.0					11																	105881299		2201	4299	6500	SO:0001583	missense	84437	exon2			GGAATCCAATCTT	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.346G>C	11.37:g.105881299C>G	ENSP00000304713:p.Gly116Arg	Somatic	173	0		WXS	Illumina HiSeq	Phase_I	129	3	NM_032424	0	0	24	24	0	Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844408	0.51164	.	.	ENSG00000170903	ENST00000301919;ENST00000530788	.	.	.	5.88	4.94	0.65067	.	0.222920	0.45867	D	0.000336	T	0.45856	0.1363	L	0.36672	1.1	0.33135	D	0.543563	B	0.31290	0.318	B	0.33196	0.159	T	0.56938	-0.7896	9	0.37606	T	0.19	-8.0691	16.459	0.84030	0.1316:0.8683:0.0:0.0	.	116	Q8NCY6	K1826_HUMAN	R	116	.	ENSP00000304713:G116R	G	-	1	0	KIAA1826	105386509	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	3.643000	0.54374	2.782000	0.95742	0.561000	0.74099	GGA	.		0.443	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424	
DDX12P	440081	ucsc.edu	37	12	9574037	9574037	+	IGR	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr12:9574037C>T								RP13-735L24.1 (23824 upstream) : SNORA75 (23616 downstream)																							TGGTTGGAGACCCCGCTGCAG	0.597																																					.													.	.	0			.						.						69.0	68.0	68.0					12																	9574037		692	1591	2283	SO:0001628	intergenic_variant	440081	.			TGGAGACCCCGCT																													12.37:g.9574037C>T		Somatic	107	2		WXS	Illumina HiSeq		161	5	.	0	1	11	40	28		RNA	SNP		37																																																																																				.	0	0.597								
C2CD5	9847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	22623804	22623804	+	Silent	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr12:22623804C>T	ENST00000333957.4	-	21	2655	c.2400G>A	c.(2398-2400)caG>caA	p.Q800Q	C2CD5_ENST00000544930.1_Silent_p.Q615Q|C2CD5_ENST00000536386.1_Silent_p.Q802Q|C2CD5_ENST00000545552.1_Silent_p.Q813Q|C2CD5_ENST00000542676.1_Silent_p.Q800Q|C2CD5_ENST00000396028.2_Silent_p.Q791Q|C2CD5_ENST00000446597.1_Silent_p.Q800Q	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	800					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TTTGTAAAGCCTGATTTTTGT	0.343																																					p.Q800Q		.											.	.	0			c.G2400A						.						159.0	149.0	152.0					12																	22623804		2203	4299	6502	SO:0001819	synonymous_variant	9847	exon21			TAAAGCCTGATTT	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2400G>A	12.37:g.22623804C>T		Somatic	78	0		WXS	Illumina HiSeq	Phase_I	93	27	NM_014802	0	0	26	43	17	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Silent	SNP	ENST00000333957.4	37	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	8.519	0.868292	0.17250	.	.	ENSG00000111731	ENST00000539615	.	.	.	4.99	3.02	0.34903	.	.	.	.	.	T	0.47691	0.1459	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39881	-0.9592	4	.	.	.	-10.4578	4.4442	0.11589	0.0:0.6458:0.0:0.3542	.	.	.	.	K	84	.	.	R	-	2	0	KIAA0528	22515071	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.959000	0.40412	1.338000	0.45544	0.591000	0.81541	AGG	.		0.343	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802	
ITGB7	3695	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	53586547	53586547	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr12:53586547T>C	ENST00000267082.5	-	13	2105	c.1874A>G	c.(1873-1875)cAg>cGg	p.Q625R	ITGB7_ENST00000338737.4_Intron|ITGB7_ENST00000422257.3_Missense_Mutation_p.Q625R|ITGB7_ENST00000550743.2_Intron	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	625	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCCAAGCACTGGCAGCGGTT	0.597																																					p.Q625R		.											.	ITGB7-231	0			c.A1874G						.						117.0	95.0	102.0					12																	53586547		2203	4300	6503	SO:0001583	missense	3695	exon13			AAGCACTGGCAGC		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.1874A>G	12.37:g.53586547T>C	ENSP00000267082:p.Gln625Arg	Somatic	75	0		WXS	Illumina HiSeq	Phase_I	106	65	NM_000889	0	0	11	37	26	Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.372998	0.42105	.	.	ENSG00000139626	ENST00000422257;ENST00000267082	D;D	0.94046	-3.34;-3.34	5.13	5.13	0.70059	EGF, extracellular (1);	0.000000	0.40385	N	0.001119	D	0.87533	0.6201	N	0.20685	0.6	0.80722	D	1	P	0.40515	0.719	B	0.39258	0.295	D	0.86926	0.2070	10	0.30078	T	0.28	.	14.3146	0.66440	0.0:0.0:0.0:1.0	.	625	P26010	ITB7_HUMAN	R	625	ENSP00000408741:Q625R;ENSP00000267082:Q625R	ENSP00000267082:Q625R	Q	-	2	0	ITGB7	51872814	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	1.901000	0.39838	2.087000	0.62958	0.454000	0.30748	CAG	.		0.597	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2		
TDG	6996	hgsc.bcm.edu	37	12	104378526	104378526	+	Splice_Site	SNP	G	G	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr12:104378526G>T	ENST00000392872.3	+	8	1026		c.e8-1		AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000544861.1_Splice_Site|TDG_ENST00000266775.9_Splice_Site|TDG_ENST00000542036.1_Splice_Site	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase						base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TGTGATTCTAGCTCTGCTATG	0.323								Base excision repair (BER), DNA glycosylases																													.		.											.	TDG-661	0			c.793-1G>T						.						45.0	42.0	43.0					12																	104378526		2203	4300	6503	SO:0001630	splice_region_variant	6996	exon8			ATTCTAGCTCTGC	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.793-1G>T	12.37:g.104378526G>T		Somatic	49	1		WXS	Illumina HiSeq	Phase_I	63	5	NM_003211	0	0	0	0	0	Q8IUZ6|Q8IZM3	Splice_Site	SNP	ENST00000392872.3	37	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099218	0.76983	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000542036	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TDG	102902656	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	.	.		0.323	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2		Intron
MTIF3	219402	ucsc.edu	37	13	28014392	28014392	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr13:28014392C>T	ENST00000381116.1	-	5	428	c.194G>A	c.(193-195)gGa>gAa	p.G65E	MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000405591.2_Missense_Mutation_p.G65E|MTIF3_ENST00000431572.2_Missense_Mutation_p.G65E|MTIF3_ENST00000381120.3_Missense_Mutation_p.G65E			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	65					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TGTCTTTTTTCCTTCATTCTG	0.403																																					p.G65E													.	MTIF3-92	0			c.G194A						.						106.0	109.0	108.0					13																	28014392		2203	4300	6503	SO:0001583	missense	219402	exon4			TTTTTTCCTTCAT	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633	ENST00000381116.1:c.194G>A	13.37:g.28014392C>T	ENSP00000370508:p.Gly65Glu	Somatic	149	0		WXS	Illumina HiSeq		139	1	NM_001166263	0	0	29	33	4	Q05BL8|Q5W0V0|Q86X68	Missense_Mutation	SNP	ENST00000381116.1	37	CCDS9322.1	.	.	.	.	.	.	.	.	.	.	C	3.884	-0.025346	0.07589	.	.	ENSG00000122033	ENST00000431572;ENST00000405591;ENST00000381116;ENST00000381120	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.82	-0.823	0.10815	.	0.504141	0.21766	N	0.069438	T	0.15912	0.0383	L	0.36672	1.1	0.09310	N	1	B	0.23806	0.091	B	0.19148	0.024	T	0.09357	-1.0678	10	0.32370	T	0.25	-6.0618	0.9703	0.01414	0.2413:0.3473:0.1435:0.2679	.	65	Q9H2K0	IF3M_HUMAN	E	65	ENSP00000400084:G65E;ENSP00000384659:G65E;ENSP00000370508:G65E;ENSP00000370512:G65E	ENSP00000370508:G65E	G	-	2	0	MTIF3	26912392	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-2.094000	0.01351	0.048000	0.15891	0.655000	0.94253	GGA	.		0.403	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912	
FSCB	84075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	44975261	44975261	+	Silent	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr14:44975261C>T	ENST00000340446.4	-	1	1221	c.930G>A	c.(928-930)gcG>gcA	p.A310A	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	310						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CAGAATTCTCCGCAACTGCAG	0.527																																					p.A310A		.											.	FSCB-587	0			c.G930A						.						48.0	51.0	50.0					14																	44975261		2203	4300	6503	SO:0001819	synonymous_variant	84075	exon1			ATTCTCCGCAACT	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.930G>A	14.37:g.44975261C>T		Somatic	88	0		WXS	Illumina HiSeq	Phase_I	88	38	NM_032135	0	0	0	0	0	Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	CCDS9679.1																																																																																			.		0.527	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
TDP1	55775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	90429932	90429932	+	Silent	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr14:90429932G>A	ENST00000335725.4	+	3	724	c.474G>A	c.(472-474)ctG>ctA	p.L158L	TDP1_ENST00000393454.2_Silent_p.L158L|TDP1_ENST00000555880.1_Silent_p.L158L|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000393452.3_Silent_p.L158L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	158					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GGGACATGCTGGATAAAGGGA	0.512								Repair of DNA-protein crosslinks																													p.L158L		.											.	TDP1-92	0			c.G474A						.						63.0	59.0	60.0					14																	90429932		2203	4300	6503	SO:0001819	synonymous_variant	55775	exon3			CATGCTGGATAAA	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.474G>A	14.37:g.90429932G>A		Somatic	137	0		WXS	Illumina HiSeq	Phase_I	125	51	NM_018319	0	0	2	7	5	Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Silent	SNP	ENST00000335725.4	37	CCDS9888.1																																																																																			.		0.512	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319	
LRRC49	54839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	71341787	71341787	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr15:71341787G>A	ENST00000260382.5	+	16	2157	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	LRRC49_ENST00000560158.2_Missense_Mutation_p.E321K|LRRC49_ENST00000560691.1_Missense_Mutation_p.E339K|LRRC49_ENST00000560369.1_Missense_Mutation_p.E638K|LRRC49_ENST00000443425.2_Missense_Mutation_p.E589K|LRRC49_ENST00000544974.2_Missense_Mutation_p.E623K|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	633						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AACATATATAGAAGACCTTGT	0.333																																					p.E638K		.											.	LRRC49-91	0			c.G1912A						.						64.0	69.0	67.0					15																	71341787		2199	4297	6496	SO:0001583	missense	54839	exon16			TATATAGAAGACC		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1897G>A	15.37:g.71341787G>A	ENSP00000260382:p.Glu633Lys	Somatic	115	1		WXS	Illumina HiSeq	Phase_I	121	43	NM_001199017	0	0	10	10	0	B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	g	6.828	0.521874	0.13005	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.32753	1.45;1.45;1.44	5.11	3.15	0.36227	.	0.337573	0.31381	N	0.007756	T	0.10637	0.0260	N	0.03608	-0.345	0.29353	N	0.865232	B;B;B;B;B	0.13145	0.0;0.001;0.001;0.0;0.007	B;B;B;B;B	0.15484	0.001;0.003;0.003;0.001;0.013	T	0.26780	-1.0093	10	0.08179	T	0.78	-16.1443	6.9842	0.24719	0.0981:0.2677:0.6342:0.0	.	638;605;589;633;623	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	K	623;633;589;605	ENSP00000439600:E623K;ENSP00000260382:E633K;ENSP00000414065:E589K	ENSP00000260382:E633K	E	+	1	0	LRRC49	69128841	0.993000	0.37304	0.824000	0.32777	0.939000	0.58152	2.570000	0.45981	1.386000	0.46466	0.655000	0.94253	GAA	.		0.333	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691	
LRRC49	54839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	71341790	71341790	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr15:71341790G>A	ENST00000260382.5	+	16	2160	c.1900G>A	c.(1900-1902)Gac>Aac	p.D634N	LRRC49_ENST00000560158.2_Missense_Mutation_p.D322N|LRRC49_ENST00000560691.1_Missense_Mutation_p.D340N|LRRC49_ENST00000560369.1_Missense_Mutation_p.D639N|LRRC49_ENST00000443425.2_Missense_Mutation_p.D590N|LRRC49_ENST00000544974.2_Missense_Mutation_p.D624N|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	634						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ATATATAGAAGACCTTGTGAA	0.333																																					p.D639N		.											.	LRRC49-91	0			c.G1915A						.						68.0	73.0	72.0					15																	71341790		2199	4297	6496	SO:0001583	missense	54839	exon16			ATAGAAGACCTTG		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1900G>A	15.37:g.71341790G>A	ENSP00000260382:p.Asp634Asn	Somatic	122	1		WXS	Illumina HiSeq	Phase_I	125	46	NM_001199017	0	0	5	5	0	B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	g	12.82	2.053304	0.36181	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.32753	1.44;1.45;1.44	5.11	5.11	0.69529	.	0.112225	0.64402	D	0.000019	T	0.33556	0.0867	N	0.17474	0.49	0.46149	D	0.998895	B;B;B;B;D	0.60575	0.036;0.061;0.061;0.036;0.988	B;B;B;B;P	0.60236	0.01;0.033;0.033;0.015;0.871	T	0.03463	-1.1034	10	0.16420	T	0.52	-22.4388	16.0724	0.80943	0.0:0.0:1.0:0.0	.	639;606;590;634;624	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	N	624;634;590;606	ENSP00000439600:D624N;ENSP00000260382:D634N;ENSP00000414065:D590N	ENSP00000260382:D634N	D	+	1	0	LRRC49	69128844	1.000000	0.71417	0.996000	0.52242	0.959000	0.62525	3.689000	0.54706	2.657000	0.90304	0.655000	0.94253	GAC	.		0.333	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691	
SRRM2	23524	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	2814253	2814253	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr16:2814253G>A	ENST00000301740.8	+	11	4273	c.3724G>A	c.(3724-3726)Gta>Ata	p.V1242I		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1242	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AATGGAGGTGGTAGAGAAGTC	0.443																																					p.V1242I		.											.	SRRM2-93	0			c.G3724A						.						106.0	113.0	111.0					16																	2814253		2198	4300	6498	SO:0001583	missense	23524	exon11			GAGGTGGTAGAGA	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3724G>A	16.37:g.2814253G>A	ENSP00000301740:p.Val1242Ile	Somatic	221	0		WXS	Illumina HiSeq	Phase_I	303	72	NM_016333	0	0	60	84	24	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	3.875	-0.027037	0.07589	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.24350	1.86	6.17	2.02	0.26589	.	0.793322	0.11547	N	0.553197	T	0.13713	0.0332	N	0.16478	0.41	0.09310	N	0.999996	B	0.06786	0.001	B	0.06405	0.002	T	0.33292	-0.9874	10	0.20519	T	0.43	0.1551	6.7948	0.23719	0.375:0.0:0.625:0.0	.	1242	Q9UQ35	SRRM2_HUMAN	I	1242;1242;494	ENSP00000301740:V1242I	ENSP00000301740:V1242I	V	+	1	0	SRRM2	2754254	0.001000	0.12720	0.868000	0.34077	0.982000	0.71751	-0.011000	0.12721	0.445000	0.26639	0.655000	0.94253	GTA	.		0.443	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
SRCAP	10847	broad.mit.edu	37	16	30735227	30735227	+	Silent	SNP	A	A	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr16:30735227A>C	ENST00000262518.4	+	25	4867	c.4482A>C	c.(4480-4482)gcA>gcC	p.A1494A	SRCAP_ENST00000344771.4_Silent_p.A1336A|SRCAP_ENST00000395059.2_Silent_p.A1432A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1494	Pro-rich.			A -> Q (in Ref. 6; AAD39760). {ECO:0000305}.	histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCTCCTTGGCACCATCTGGTG	0.587																																					p.A1494A													.	SRCAP-94	0			c.A4482C						.						113.0	102.0	106.0					16																	30735227		2197	4300	6497	SO:0001819	synonymous_variant	10847	exon25			CTTGGCACCATCT	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4482A>C	16.37:g.30735227A>C		Somatic	125	0		WXS	Illumina HiSeq	Phase_I	153	7	NM_006662	0	0	85	86	1	B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	CCDS10689.2																																																																																			.		0.587	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
C16orf86	388284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	67702137	67702137	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr16:67702137C>G	ENST00000403458.4	+	4	743	c.588C>G	c.(586-588)taC>taG	p.Y196*	ENKD1_ENST00000243878.4_5'Flank|ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000602644.1_5'Flank	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	196										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGTACCAGTACGTCAACTATT	0.667											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Y196X		.											.	.	0			c.C588G						.						15.0	16.0	16.0					16																	67702137		2190	4293	6483	SO:0001587	stop_gained	388284	exon4			CCAGTACGTCAAC		CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.588C>G	16.37:g.67702137C>G	ENSP00000384117:p.Tyr196*	Somatic	25	0	1101	WXS	Illumina HiSeq	Phase_I	32	18	NM_001012984	0	0	9	17	8	B5MCW6	Nonsense_Mutation	SNP	ENST00000403458.4	37	CCDS32468.2	.	.	.	.	.	.	.	.	.	.	C	32	5.154005	0.94645	.	.	ENSG00000159761	ENST00000403458	.	.	.	5.95	2.97	0.34412	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8901	9.6968	0.40163	0.0:0.7838:0.0:0.2162	.	.	.	.	X	196	.	ENSP00000384117:Y196X	Y	+	3	2	C16orf86	66259638	0.998000	0.40836	1.000000	0.80357	0.972000	0.66771	0.259000	0.18405	0.426000	0.26116	0.563000	0.77884	TAC	.		0.667	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318767.2	NM_001012984	
CPNE7	27132	broad.mit.edu	37	16	89662976	89662976	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr16:89662976C>A	ENST00000268720.5	+	17	1979	c.1849C>A	c.(1849-1851)Ccg>Acg	p.P617T	CPNE7_ENST00000319518.8_Missense_Mutation_p.P542T|CPNE7_ENST00000566398.1_3'UTR	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	617					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		AGGCCTGCCCCCGAGAAGCCT	0.667																																					p.P617T													.	CPNE7-90	0			c.C1849A						.						53.0	54.0	53.0					16																	89662976		2197	4299	6496	SO:0001583	missense	27132	exon17			CTGCCCCCGAGAA	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1849C>A	16.37:g.89662976C>A	ENSP00000268720:p.Pro617Thr	Somatic	71	0		WXS	Illumina HiSeq	Phase_I	92	8	NM_014427	0	0	4	4	0		Missense_Mutation	SNP	ENST00000268720.5	37	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939497	0.73557	.	.	ENSG00000178773	ENST00000319518;ENST00000268720	T;T	0.33438	1.48;1.41	3.79	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	M	0.92026	3.265	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.81914	0.983;0.995	T	0.75102	-0.3436	10	0.87932	D	0	-20.9241	15.6095	0.76704	0.0:1.0:0.0:0.0	.	542;617	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	T	542;617	ENSP00000317374:P542T;ENSP00000268720:P617T	ENSP00000268720:P617T	P	+	1	0	CPNE7	88190477	0.997000	0.39634	0.007000	0.13788	0.005000	0.04900	7.006000	0.76329	1.821000	0.53095	0.561000	0.74099	CCG	.		0.667	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2		
SCARF1	8578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	1538231	1538231	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:1538231T>C	ENST00000263071.4	-	11	2363	c.2314A>G	c.(2314-2316)Aga>Gga	p.R772G	SCARF1_ENST00000348987.3_Missense_Mutation_p.R686G|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	772	Gly-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCTCTGGTCTGACTGCCATA	0.657																																					p.R772G		.											.	SCARF1-91	0			c.A2314G						.						34.0	39.0	37.0					17																	1538231		2203	4298	6501	SO:0001583	missense	8578	exon11			CTGGTCTGACTGC	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.2314A>G	17.37:g.1538231T>C	ENSP00000263071:p.Arg772Gly	Somatic	75	0		WXS	Illumina HiSeq	Phase_I	87	51	NM_003693	1	0	7	11	3	A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	t	9.073	0.997418	0.19043	.	.	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.20463	2.07;2.77	4.68	-1.08	0.09936	.	0.960477	0.08537	N	0.931174	T	0.08980	0.0222	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.38993	-0.9635	10	0.24483	T	0.36	-2.2932	9.7539	0.40492	0.0:0.3094:0.0:0.6906	.	686;772	Q14162-2;Q14162	.;SREC_HUMAN	G	772;686	ENSP00000263071:R772G;ENSP00000323964:R686G	ENSP00000263071:R772G	R	-	1	2	SCARF1	1484981	0.000000	0.05858	0.004000	0.12327	0.092000	0.18411	-0.431000	0.06965	-0.332000	0.08489	0.450000	0.29827	AGA	.		0.657	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693	
CAMKK1	84254	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	3788622	3788622	+	Splice_Site	SNP	C	C	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:3788622C>G	ENST00000348335.2	-	2	508	c.360G>C	c.(358-360)gaG>gaC	p.E120D	CAMKK1_ENST00000381771.2_Splice_Site_p.E120D|CAMKK1_ENST00000381769.2_Splice_Site_p.E147D|CAMKK1_ENST00000158166.5_Splice_Site_p.E120D	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	120					synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CCCCACCAACCTCTGCATCTG	0.622																																					p.E120D		.											.	CAMKK1-334	0			c.G360C						.						12.0	15.0	14.0					17																	3788622		2182	4265	6447	SO:0001630	splice_region_variant	84254	exon2			ACCAACCTCTGCA	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.360+1G>C	17.37:g.3788622C>G		Somatic	39	0		WXS	Illumina HiSeq	Phase_I	46	14	NM_032294	0	0	0	0	0	Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	37	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677258	0.29783	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.57	5.57	0.84162	Protein kinase-like domain (1);	0.246503	0.41938	D	0.000799	T	0.31513	0.0799	N	0.19112	0.55	0.44316	D	0.997194	B;B	0.13145	0.007;0.002	B;B	0.14578	0.011;0.005	T	0.11494	-1.0585	9	.	.	.	-39.5364	12.0428	0.53462	0.1724:0.8276:0.0:0.0	.	120;120	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	D	147;120;120;120	ENSP00000371188:E147D;ENSP00000323118:E120D;ENSP00000371190:E120D;ENSP00000158166:E120D	.	E	-	3	2	CAMKK1	3735371	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	2.413000	0.44618	2.632000	0.89209	0.491000	0.48974	GAG	.		0.622	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207	Missense_Mutation
ZNF232	7775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	5009512	5009512	+	Silent	SNP	A	A	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:5009512A>G	ENST00000250076.3	-	5	1596	c.942T>C	c.(940-942)taT>taC	p.Y314Y	ZNF232_ENST00000575538.1_5'Flank|ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Silent_p.Y305Y	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	287					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GATGTGAGTTATAAATGAAGG	0.428																																					p.Y314Y		.											.	ZNF232-154	0			c.T942C						.						111.0	110.0	111.0					17																	5009512		2203	4300	6503	SO:0001819	synonymous_variant	7775	exon5			TGAGTTATAAATG	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.942T>C	17.37:g.5009512A>G		Somatic	136	0		WXS	Illumina HiSeq	Phase_I	188	47	NM_014519	0	0	2	5	3		Silent	SNP	ENST00000250076.3	37	CCDS11068.1																																																																																			.		0.428	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519	
SLC13A2	9058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	26818545	26818545	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:26818545G>A	ENST00000314669.5	+	5	1085	c.665G>A	c.(664-666)aGc>aAc	p.S222N	SLC13A2_ENST00000537681.1_Missense_Mutation_p.S151N|SLC13A2_ENST00000444914.3_Missense_Mutation_p.S271N|SLC13A2_ENST00000545060.1_Missense_Mutation_p.S179N	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	222					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGTGCATGAGCCTGTGCGTG	0.617																																					p.S271N		.											.	SLC13A2-90	0			c.G812A						.						69.0	64.0	66.0					17																	26818545		2203	4300	6503	SO:0001583	missense	9058	exon5			GCATGAGCCTGTG	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.665G>A	17.37:g.26818545G>A	ENSP00000316202:p.Ser222Asn	Somatic	131	0		WXS	Illumina HiSeq	Phase_I	150	46	NM_001145975	0	0	1	1	0	B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265898	0.40095	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	T;T;T;T	0.03124	4.04;4.04;4.04;4.04	5.62	4.63	0.57726	.	0.200462	0.64402	D	0.000010	T	0.14227	0.0344	M	0.81341	2.54	0.42186	D	0.991709	D;B;B;B;B	0.65815	0.995;0.007;0.041;0.138;0.041	P;B;B;B;B	0.62560	0.904;0.098;0.081;0.073;0.081	T	0.01621	-1.1310	10	0.35671	T	0.21	-13.5366	9.6615	0.39958	0.0762:0.413:0.5108:0.0	.	179;271;178;151;222	F5GWV6;E7ETH5;B4E1M6;G3V1L2;Q13183	.;.;.;.;S13A2_HUMAN	N	222;271;179;178;151	ENSP00000316202:S222N;ENSP00000392411:S271N;ENSP00000441935:S179N;ENSP00000440802:S151N	ENSP00000316202:S222N	S	+	2	0	SLC13A2	23842672	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	2.293000	0.43558	1.346000	0.45694	0.557000	0.71058	AGC	.		0.617	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984	
SPAG5	10615	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	26919846	26919846	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:26919846T>C	ENST00000321765.5	-	3	748	c.416A>G	c.(415-417)cAg>cGg	p.Q139R		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	139					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GTCTTGTTGCTGCCCCAGTGG	0.453																																					p.Q139R		.											.	SPAG5-90	0			c.A416G						.						190.0	176.0	180.0					17																	26919846		2203	4300	6503	SO:0001583	missense	10615	exon3			TGTTGCTGCCCCA	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.416A>G	17.37:g.26919846T>C	ENSP00000323300:p.Gln139Arg	Somatic	185	0		WXS	Illumina HiSeq	Phase_I	253	145	NM_006461	0	0	5	5	0	O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	T	6.118	0.390021	0.11581	.	.	ENSG00000076382	ENST00000321765	T	0.25912	1.77	5.94	2.35	0.29111	.	0.760636	0.11855	N	0.522906	T	0.23210	0.0561	M	0.67953	2.075	0.25392	N	0.988515	P	0.49090	0.919	B	0.39738	0.308	T	0.32322	-0.9911	10	0.87932	D	0	-0.1373	3.1967	0.06635	0.1858:0.187:0.0:0.6271	.	139	Q96R06	SPAG5_HUMAN	R	139	ENSP00000323300:Q139R	ENSP00000323300:Q139R	Q	-	2	0	SPAG5	23943973	0.917000	0.31117	0.981000	0.43875	0.152000	0.21847	0.898000	0.28404	1.069000	0.40788	0.533000	0.62120	CAG	.		0.453	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461	
UNC13D	201294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	73831766	73831766	+	Silent	SNP	G	G	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:73831766G>T	ENST00000207549.4	-	19	2068	c.1689C>A	c.(1687-1689)ctC>ctA	p.L563L	UNC13D_ENST00000412096.2_Silent_p.L563L	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	563	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAGCTCCTTGAGGCTGATGT	0.637									Familial Hemophagocytic Lymphohistiocytosis																												p.L563L		.											.	UNC13D-92	0			c.C1689A						.						41.0	38.0	39.0					17																	73831766		2203	4300	6503	SO:0001819	synonymous_variant	201294	exon19	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	CTCCTTGAGGCTG	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1689C>A	17.37:g.73831766G>T		Somatic	62	1		WXS	Illumina HiSeq	Phase_I	70	23	NM_199242	0	0	1	1	0	B4DWG9|Q9H7K5	Silent	SNP	ENST00000207549.4	37	CCDS11730.1																																																																																			.		0.637	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950	
CTAGE1	64693	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	19997258	19997258	+	5'Flank	SNP	G	G	A	rs372127240		TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr18:19997258G>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.R173W			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATCTCCAACCGTTCTTCATTC	0.388																																					p.R173W		.											.	CTAGE1-1	0			c.C517T						.	G	TRP/ARG	0,4314		0,0,2157	95.0	100.0	99.0		517	0.9	0.0	18		99	2,8574		0,2,4286	no	missense	CTAGE1	NM_172241.2	101	0,2,6443	AA,AG,GG		0.0233,0.0,0.0155	probably-damaging	173/746	19997258	2,12888	2157	4288	6445	SO:0001631	upstream_gene_variant	64693	exon1			CCAACCGTTCTTC	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997258G>A	Exception_encountered	Somatic	253	0		WXS	Illumina HiSeq	Phase_I	169	71	NM_172241	0	0	0	0	0	B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37		.	.	.	.	.	.	.	.	.	.	G	12.14	1.849249	0.32699	0.0	2.33E-4	ENSG00000212710	ENST00000391403	T	0.29655	1.56	0.909	0.909	0.19332	.	.	.	.	.	T	0.47581	0.1453	M	0.78637	2.42	0.09310	N	1	D	0.76494	0.999	D	0.64321	0.924	T	0.22941	-1.0202	8	.	.	.	.	5.2011	0.15264	0.0:0.0:1.0:0.0	.	173	Q96RT6	CTGE2_HUMAN	W	173	ENSP00000375220:R173W	.	R	-	1	2	CTAGE1	18251256	0.980000	0.34600	0.003000	0.11579	0.004000	0.04260	0.579000	0.23788	0.776000	0.33473	0.449000	0.29647	CGG	.		0.388	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241	
HNRNPM	4670	ucsc.edu	37	19	8527467	8527467	+	Splice_Site	SNP	T	T	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr19:8527467T>G	ENST00000325495.4	+	3	377		c.e3+2		HNRNPM_ENST00000348943.3_Splice_Site	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AAGTCAAGGGTAAGTGTCTGA	0.428																																					.													.	HNRNPM-68	0			c.336+2T>G						.						241.0	220.0	227.0					19																	8527467		2203	4300	6503	SO:0001630	splice_region_variant	4670	exon3			CAAGGGTAAGTGT	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.336+2T>G	19.37:g.8527467T>G		Somatic	127	0		WXS	Illumina HiSeq		151	2	NM_031203	0	0	0	0	0	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Splice_Site	SNP	ENST00000325495.4	37	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.580056	0.65992	.	.	ENSG00000099783	ENST00000325495;ENST00000348943	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0018	0.71479	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	HNRNPM	8433467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.225000	0.72522	0.459000	0.35465	.	.		0.428	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1		Intron
ZNF20	7568	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	12246707	12246707	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr19:12246707A>C	ENST00000334213.5	-	2	240	c.16T>G	c.(16-18)Tca>Gca	p.S6A	ZNF20_ENST00000600335.1_Missense_Mutation_p.S3A|ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000485451.1_5'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|lung(6)	8						AAGGCCACTGAATCCTGAAAC	0.468																																					p.S6A		.											.	ZNF20-22	0			c.T16G						.						58.0	59.0	59.0					19																	12246707		2201	4300	6501	SO:0001583	missense	7568	exon2			CCACTGAATCCTG	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.16T>G	19.37:g.12246707A>C	ENSP00000335437:p.Ser6Ala	Somatic	128	1		WXS	Illumina HiSeq	Phase_I	87	36	NM_021143	0	0	0	0	0	Q8N457|Q9UG41	Missense_Mutation	SNP	ENST00000334213.5	37	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	A	7.853	0.724490	0.15439	.	.	ENSG00000132010	ENST00000334213;ENST00000292241;ENST00000418866	T;T	0.00840	5.63;5.63	0.94	-0.185	0.13276	Krueppel-associated box (1);	.	.	.	.	T	0.01092	0.0036	M	0.76328	2.33	0.09310	N	0.999999	P	0.41080	0.737	B	0.33846	0.171	T	0.44636	-0.9315	9	0.23302	T	0.38	.	2.9313	0.05800	0.6786:0.0:0.3214:0.0	.	6	P17024	ZNF20_HUMAN	A	6;6;3	ENSP00000335437:S6A;ENSP00000390115:S3A	ENSP00000292241:S6A	S	-	1	0	ZNF20	12107707	0.000000	0.05858	0.171000	0.22900	0.055000	0.15305	-1.356000	0.02609	-0.137000	0.11455	0.260000	0.18958	TCA	.		0.468	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143	
LGI4	163175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	35617247	35617247	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr19:35617247A>G	ENST00000310123.3	-	8	1745	c.1226T>C	c.(1225-1227)gTc>gCc	p.V409A	LGI4_ENST00000392225.3_Missense_Mutation_p.S435P|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	409					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TGTGGCATAGACATCCTCGGC	0.682																																					p.V409A		.											.	LGI4-91	0			c.T1226C						.						35.0	32.0	33.0					19																	35617247		2203	4300	6503	SO:0001583	missense	163175	exon8			GCATAGACATCCT	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.1226T>C	19.37:g.35617247A>G	ENSP00000312273:p.Val409Ala	Somatic	30	0		WXS	Illumina HiSeq	Phase_I	36	17	NM_139284	0	0	0	0	0	B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	37	CCDS12444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.1|21.1	4.097418|4.097418	0.76870|0.76870	.|.	.|.	ENSG00000153902|ENSG00000153902	ENST00000392225|ENST00000310123;ENST00000437421	T|T	0.68331|0.78595	-0.32|-1.19	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	.|0.000000	.|0.52532	.|D	.|0.000079	D|D	0.84261|0.84261	0.5433|0.5433	L|L	0.58583|0.58583	1.82|1.82	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.85130	.|0.997;0.997	T|T	0.83349|0.83349	-0.0004|-0.0004	7|10	0.87932|0.37606	D|T	0|0.19	.|.	12.0653|12.0653	0.53583|0.53583	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|320;409	.|Q658V8;Q8N135	.|.;LGI4_HUMAN	P|A	435|409	ENSP00000376059:S435P|ENSP00000312273:V409A	ENSP00000376059:S435P|ENSP00000312273:V409A	S|V	-|-	1|2	0|0	LGI4|LGI4	40309087|40309087	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.386000|7.386000	0.79775|0.79775	1.745000|1.745000	0.51790|0.51790	0.477000|0.477000	0.44152|0.44152	TCT|GTC	.		0.682	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1		
ZNF546	339327	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	40520846	40520846	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr19:40520846G>A	ENST00000347077.4	+	7	1885	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.E531K	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	557					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAATGTAAGGAATGTGGGAA	0.388																																					p.E557K		.											.	ZNF546-155	0			c.G1669A						.						61.0	59.0	59.0					19																	40520846		2203	4300	6503	SO:0001583	missense	339327	exon7			TGTAAGGAATGTG	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1669G>A	19.37:g.40520846G>A	ENSP00000339823:p.Glu557Lys	Somatic	74	0		WXS	Illumina HiSeq	Phase_I	84	45	NM_178544	2	0	2	4	0	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	15.69	2.907182	0.52333	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.07327	3.2	3.0	-0.424	0.12321	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06781	0.0173	L	0.41415	1.275	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.35624	-0.9781	9	0.56958	D	0.05	.	4.6522	0.12601	0.23:0.1839:0.5862:0.0	.	557	Q86UE3	ZN546_HUMAN	K	557;166	ENSP00000339823:E557K	ENSP00000339823:E557K	E	+	1	0	ZNF546	45212686	0.001000	0.12720	0.990000	0.47175	0.997000	0.91878	0.499000	0.22546	-0.002000	0.14469	0.655000	0.94253	GAA	.		0.388	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544	
EGLN2	112398	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	41306603	41306603	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr19:41306603T>A	ENST00000593726.1	+	1	1154	c.126T>A	c.(124-126)tgT>tgA	p.C42*	EGLN2_ENST00000594140.1_5'Flank|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Nonsense_Mutation_p.C42*|EGLN2_ENST00000303961.4_Nonsense_Mutation_p.C42*|CTC-490E21.12_ENST00000601627.1_5'Flank			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	42					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	ACCTGCCCTGTCCCCTGCTCC	0.652																																					p.C42X		.											.	EGLN2-228	0			c.T126A						.						55.0	47.0	50.0					19																	41306603		2203	4300	6503	SO:0001587	stop_gained	112398	exon2			GCCCTGTCCCCTG	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 1"""	606424	"""EGL nine (C.elegans) homolog 2"", ""egl nine homolog 2 (C. elegans)"""				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.126T>A	19.37:g.41306603T>A	ENSP00000469686:p.Cys42*	Somatic	56	0		WXS	Illumina HiSeq	Phase_I	52	15	NM_053046	0	0	16	26	10	A8K5S0|Q8WWY4|Q9BV14	Nonsense_Mutation	SNP	ENST00000593726.1	37	CCDS12567.1	.	.	.	.	.	.	.	.	.	.	T	38	6.815813	0.97861	.	.	ENSG00000171570	ENST00000303961;ENST00000406058	.	.	.	4.15	1.91	0.25777	.	0.092299	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0525	7.5512	0.27798	0.0:0.1918:0.0:0.8082	.	.	.	.	X	42	.	ENSP00000307080:C42X	C	+	3	2	EGLN2	45998443	0.372000	0.25064	0.976000	0.42696	0.984000	0.73092	0.337000	0.19841	0.198000	0.20407	0.402000	0.26972	TGT	.		0.652	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1		
IZUMO2	126123	ucsc.edu;bcgsc.ca	37	19	50666348	50666348	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr19:50666348A>G	ENST00000293405.3	-	1	104	c.104T>C	c.(103-105)cTg>cCg	p.L35P		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	35						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GGCGGAGCGCAGGTGACCCAG	0.701																																					p.L35P													.	IZUMO2-90	0			c.T104C						.						19.0	23.0	22.0					19																	50666348		1973	4159	6132	SO:0001583	missense	126123	exon1			GAGCGCAGGTGAC	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.104T>C	19.37:g.50666348A>G	ENSP00000293405:p.Leu35Pro	Somatic	26	0		WXS	Illumina HiSeq		16	4	NM_152358	0	0	0	0	0	Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	CCDS12792.2	.	.	.	.	.	.	.	.	.	.	A	15.79	2.936048	0.52972	.	.	ENSG00000161652	ENST00000293405;ENST00000377000	T	0.38077	1.16	3.39	3.39	0.38822	.	0.727782	0.10719	N	0.641964	T	0.46983	0.1421	L	0.34521	1.04	0.45852	D	0.998715	D	0.89917	1.0	D	0.87578	0.998	T	0.41875	-0.9484	10	0.87932	D	0	.	8.5137	0.33233	1.0:0.0:0.0:0.0	.	35	Q6UXV1	IZUM2_HUMAN	P	35	ENSP00000293405:L35P	ENSP00000293405:L35P	L	-	2	0	IZUMO2	55358160	0.996000	0.38824	0.521000	0.27850	0.005000	0.04900	3.883000	0.56168	1.774000	0.52232	0.533000	0.62120	CTG	.		0.701	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358	
PUM2	23369	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	20518349	20518349	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr2:20518349C>T	ENST00000361078.2	-	2	131	c.109G>A	c.(109-111)Ggc>Agc	p.G37S	PUM2_ENST00000403432.1_Missense_Mutation_p.G37S|PUM2_ENST00000338086.5_Missense_Mutation_p.G37S|PUM2_ENST00000536417.1_Intron|PUM2_ENST00000420234.1_5'UTR|PUM2_ENST00000319801.5_Missense_Mutation_p.G37S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	37	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAATATGCCTTTTTGTCCA	0.338																																					p.G37S		.											.	PUM2-91	0			c.G109A						.						142.0	131.0	135.0					2																	20518349		2203	4300	6503	SO:0001583	missense	23369	exon2			ATATGCCTTTTTG	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.109G>A	2.37:g.20518349C>T	ENSP00000354370:p.Gly37Ser	Somatic	108	0		WXS	Illumina HiSeq	Phase_I	91	35	NM_015317	0	0	14	25	11	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37		.	.	.	.	.	.	.	.	.	.	C	16.75	3.210343	0.58343	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000403432;ENST00000442400	T;T;T;T	0.21031	2.03;2.31;2.21;2.03	5.74	0.167	0.15006	.	0.151206	0.64402	N	0.000016	T	0.17152	0.0412	L	0.49350	1.555	0.80722	D	1	B;B	0.20459	0.0;0.045	B;B	0.20184	0.001;0.028	T	0.05500	-1.0881	10	0.54805	T	0.06	-0.9827	7.59	0.28015	0.1096:0.6213:0.0:0.2691	.	37;37	B7ZL34;Q8TB72-3	.;.	S	37	ENSP00000338173:G37S;ENSP00000354370:G37S;ENSP00000326746:G37S;ENSP00000385992:G37S	ENSP00000326746:G37S	G	-	1	0	PUM2	20381830	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	3.338000	0.52128	0.071000	0.16664	-0.948000	0.02665	GGC	.		0.338	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317	
UNC50	25972	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	99232895	99232895	+	Splice_Site	SNP	A	A	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr2:99232895A>T	ENST00000357765.2	+	5	694	c.542A>T	c.(541-543)cAt>cTt	p.H181L	UNC50_ENST00000409975.1_Splice_Site_p.H198L|UNC50_ENST00000409347.1_Splice_Site_p.H198L	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	181					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						CTTCTGGCAGATGTTATCCTG	0.373																																					p.H181L		.											.	UNC50-90	0			c.A542T						.						206.0	198.0	201.0					2																	99232895		2203	4300	6503	SO:0001630	splice_region_variant	25972	exon5			TGGCAGATGTTAT		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.542-1A>T	2.37:g.99232895A>T		Somatic	140	1		WXS	Illumina HiSeq	Phase_I	106	45	NM_014044	0	0	1	3	2	D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	ENST00000357765.2	37	CCDS2035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.47|10.47	1.358643|1.358643	0.24598|0.24598	.|.	.|.	ENSG00000115446|ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347|ENST00000393493	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.251636|.	0.46145|.	D|.	0.000306|.	T|T	0.35566|0.35566	0.0936|0.0936	N|N	0.04636|0.04636	-0.2|-0.2	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.08055|.	0.003|.	T|T	0.30504|0.30504	-0.9976|-0.9976	9|5	0.11182|.	T|.	0.66|.	.|.	14.6244|14.6244	0.68611|0.68611	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	181|.	Q53HI1|.	UNC50_HUMAN|.	L|L	181;198;198|48	.|.	ENSP00000350409:H181L|.	H|M	+|+	2|1	0|0	UNC50|UNC50	98599327|98599327	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.713000|0.713000	0.41058|0.41058	8.609000|8.609000	0.90898|0.90898	2.238000|2.238000	0.73509|0.73509	0.477000|0.477000	0.44152|0.44152	CAT|ATG	.		0.373	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044	Missense_Mutation
TTN	7273	ucsc.edu;bcgsc.ca	37	2	179611166	179611166	+	Intron	SNP	C	C	T	rs397517817		TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr2:179611166C>T	ENST00000591111.1	-	46	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.V5321I|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			AATTCTTTAACGTCTTTTTCA	0.363																																					p.V5321I													.	TTN-636	0			c.G15961A						.						64.0	58.0	60.0					2																	179611166		2203	4299	6502	SO:0001627	intron_variant	7273	exon46			CTTTAACGTCTTT	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.10361-4518G>A	2.37:g.179611166C>T		Somatic	67	0		WXS	Illumina HiSeq		36	10	NM_133379	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		.	.	.	.	.	.	.	.	.	.	C	16.24	3.067909	0.55539	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.60040	0.22	5.88	5.88	0.94601	.	.	.	.	.	T	0.70833	0.3269	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.64364	-0.6425	9	0.16896	T	0.51	.	14.3978	0.67022	0.0:0.9299:0.0:0.0701	.	5321	Q8WZ42-6	.	I	5321;602	ENSP00000354117:V5321I	ENSP00000304714:V602I	V	-	1	0	TTN	179319411	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.083000	0.71326	2.782000	0.95742	0.655000	0.94253	GTT	.		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ANKRD44	91526	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	197986231	197986231	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr2:197986231T>C	ENST00000328737.2	-	8	732	c.656A>G	c.(655-657)cAc>cGc	p.H219R	ANKRD44_ENST00000337207.5_Missense_Mutation_p.H219R|ANKRD44_ENST00000282272.8_Missense_Mutation_p.H236R|ANKRD44_ENST00000539527.1_Missense_Mutation_p.H172R|ANKRD44_ENST00000450567.1_Missense_Mutation_p.H219R|ANKRD44_ENST00000409153.1_Missense_Mutation_p.H244R|ANKRD44_ENST00000409919.1_Missense_Mutation_p.H244R			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	244										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCAGGCGATGTGAAGCGCTGT	0.433																																					p.H244R		.											.	ANKRD44-230	0			c.A731G						.						155.0	117.0	130.0					2																	197986231		2203	4300	6503	SO:0001583	missense	91526	exon8			GCGATGTGAAGCG	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.656A>G	2.37:g.197986231T>C	ENSP00000331516:p.His219Arg	Somatic	54	0		WXS	Illumina HiSeq	Phase_I	50	18	NM_153697	0	0	0	0	0	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37		.	.	.	.	.	.	.	.	.	.	T	22.1	4.245633	0.80024	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919	T;T;T;T;T;T;T;T	0.79554	-0.56;-0.56;-1.28;-1.28;-1.28;-0.56;-1.28;-1.28	5.14	5.14	0.70334	.	0.105903	0.64402	D	0.000004	D	0.90287	0.6962	M	0.85630	2.765	0.58432	D	0.999999	D;D	0.89917	1.0;0.99	D;D	0.81914	0.995;0.968	D	0.91903	0.5533	10	0.87932	D	0	.	15.4162	0.74970	0.0:0.0:0.0:1.0	.	172;244	F5H682;Q8N8A2-3	.;.	R	41;236;219;219;219;244;172;244	ENSP00000403415:H41R;ENSP00000282272:H236R;ENSP00000331516:H219R;ENSP00000402420:H219R;ENSP00000338794:H219R;ENSP00000387141:H244R;ENSP00000437825:H172R;ENSP00000387233:H244R	ENSP00000282272:H236R	H	-	2	0	ANKRD44	197694476	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.825000	0.86693	2.285000	0.76669	0.533000	0.62120	CAC	.		0.433	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697	
FZD5	7855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	208632800	208632800	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr2:208632800A>G	ENST00000295417.3	-	2	1217	c.664T>C	c.(664-666)Tgc>Cgc	p.C222R		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	222					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GGCTGGTAGCAGGGTACCGCG	0.632																																					p.C222R		.											.	FZD5-660	0			c.T664C						.						54.0	52.0	52.0					2																	208632800		2203	4300	6503	SO:0001583	missense	7855	exon2			GGTAGCAGGGTAC	U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"""GPCR / Class F : Frizzled receptors"""	4043	protein-coding gene	gene with protein product		601723	"""frizzled (Drosophila) homolog 5"", ""chromosome 2 open reading frame 31"", ""frizzled homolog 5 (Drosophila)"", ""frizzled 5, seven transmembrane spanning receptor"", ""frizzled family receptor 5"""	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.664T>C	2.37:g.208632800A>G	ENSP00000354607:p.Cys222Arg	Somatic	25	0		WXS	Illumina HiSeq	Phase_I	24	11	NM_003468	0	0	19	37	18	A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	37	CCDS33366.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701621	0.68501	.	.	ENSG00000163251	ENST00000295417	D	0.90197	-2.63	5.05	5.05	0.67936	.	0.051032	0.85682	D	0.000000	D	0.94706	0.8292	M	0.74647	2.275	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.95299	0.8402	10	0.87932	D	0	.	14.4703	0.67512	1.0:0.0:0.0:0.0	.	222	Q13467	FZD5_HUMAN	R	222	ENSP00000354607:C222R	ENSP00000354607:C222R	C	-	1	0	FZD5	208341045	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.339000	0.96797	1.908000	0.55244	0.459000	0.35465	TGC	.		0.632	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468	
ZNF142	7701	ucsc.edu;bcgsc.ca	37	2	219503380	219503380	+	Silent	SNP	G	G	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr2:219503380G>T	ENST00000449707.1	-	10	5167	c.4746C>A	c.(4744-4746)acC>acA	p.T1582T	ZNF142_ENST00000411696.2_Silent_p.T1582T	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1582					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCGAAGGTGGGTGCGCAGCA	0.612																																					p.T1582T	Colon(170;867 1942 8995 15834 18053)												.	ZNF142-137	0			c.C4746A						.						55.0	62.0	60.0					2																	219503380		2183	4274	6457	SO:0001819	synonymous_variant	7701	exon10			AAGGTGGGTGCGC	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4746C>A	2.37:g.219503380G>T		Somatic	66	2		WXS	Illumina HiSeq		49	10	NM_001105537	0	0	19	31	12	Q92510	Silent	SNP	ENST00000449707.1	37	CCDS42817.1																																																																																			.		0.612	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081	
SLC24A3	57419	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	19665982	19665982	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr20:19665982C>T	ENST00000328041.6	+	12	1498	c.1301C>T	c.(1300-1302)cCg>cTg	p.P434L		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	434					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						gatgaagGACCGTACACACCA	0.488																																					p.P434L		.											.	SLC24A3-91	0			c.C1301T						.						166.0	142.0	150.0					20																	19665982		2203	4300	6503	SO:0001583	missense	57419	exon12			AAGGACCGTACAC	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.1301C>T	20.37:g.19665982C>T	ENSP00000333519:p.Pro434Leu	Somatic	102	0		WXS	Illumina HiSeq	Phase_I	106	41	NM_020689	0	0	0	1	1	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287750	0.40494	.	.	ENSG00000185052	ENST00000328041	T	0.62498	0.02	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	T	0.62036	0.2395	M	0.61703	1.905	0.80722	D	1	B	0.17667	0.023	B	0.12837	0.008	T	0.56486	-0.7971	9	.	.	.	.	19.3646	0.94456	0.0:1.0:0.0:0.0	.	434	Q9HC58	NCKX3_HUMAN	L	434	ENSP00000333519:P434L	.	P	+	2	0	SLC24A3	19613982	1.000000	0.71417	0.833000	0.33012	0.408000	0.30992	7.465000	0.80898	2.668000	0.90789	0.563000	0.77884	CCG	.		0.488	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689	
PCIF1	63935	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	44574469	44574469	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr20:44574469A>C	ENST00000372409.3	+	12	1652	c.1288A>C	c.(1288-1290)Atc>Ctc	p.I430L	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	430					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CGTGGTCTGCATCCGGTATAA	0.602																																					p.I430L		.											.	PCIF1-91	0			c.A1288C						.						105.0	97.0	100.0					20																	44574469		2203	4300	6503	SO:0001583	missense	63935	exon12			GTCTGCATCCGGT	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1288A>C	20.37:g.44574469A>C	ENSP00000361486:p.Ile430Leu	Somatic	141	1		WXS	Illumina HiSeq	Phase_I	147	51	NM_022104	0	0	25	61	36	E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	A	3.545	-0.092801	0.07053	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.01	-1.64	0.08318	.	0.378783	0.26944	N	0.021710	T	0.05914	0.0154	N	0.00823	-1.155	0.28559	N	0.91125	B	0.02656	0.0	B	0.01281	0.0	T	0.37478	-0.9704	9	0.02654	T	1	-2.4041	5.0684	0.14594	0.262:0.3498:0.3882:0.0	.	430	Q9H4Z3	PCIF1_HUMAN	L	430	.	ENSP00000361486:I430L	I	+	1	0	PCIF1	44007876	1.000000	0.71417	0.994000	0.49952	0.897000	0.52465	1.872000	0.39549	-0.182000	0.10602	-0.379000	0.06801	ATC	.		0.602	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104	
ARFGEF2	10564	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	47641990	47641990	+	Silent	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr20:47641990C>T	ENST00000371917.4	+	36	4896	c.4896C>T	c.(4894-4896)taC>taT	p.Y1632Y		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1632					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACTCCAATTACGAGCAGCGGA	0.473																																					p.Y1632Y	Esophageal Squamous(176;1738 1974 26285 33069 35354)	.											.	ARFGEF2-358	0			c.C4896T						.						97.0	80.0	85.0					20																	47641990		2203	4300	6503	SO:0001819	synonymous_variant	10564	exon36			CAATTACGAGCAG	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.4896C>T	20.37:g.47641990C>T		Somatic	90	0		WXS	Illumina HiSeq	Phase_I	66	27	NM_006420	0	0	10	30	20	Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	CCDS13411.1																																																																																			.		0.473	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	
SNAI1	6615	ucsc.edu	37	20	48600833	48600833	+	Silent	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr20:48600833C>T	ENST00000244050.2	+	2	616	c.555C>T	c.(553-555)tgC>tgT	p.C185C		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	185	Required for nuclear localization and interaction with KPNB1, NOTCH1 and PARP1.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|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 regulatory region sequence-specific DNA binding (GO:0000977)	p.C185*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GCGGAACCTGCGGGAAGGCCT	0.622																																					p.C185C													.	SNAI1-227	1	Substitution - Nonsense(1)	lung(1)	c.C555T						.						27.0	26.0	26.0					20																	48600833		2203	4300	6503	SO:0001819	synonymous_variant	6615	exon2			AACCTGCGGGAAG	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11128	protein-coding gene	gene with protein product		604238	"""snail 1 (drosophila homolog), zinc finger protein"", ""snail homolog 1 (Drosophila)"""			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.555C>T	20.37:g.48600833C>T		Somatic	27	0		WXS	Illumina HiSeq		25	4	NM_005985	0	0	1	1	0	B2R842|Q9P113|Q9UBP7|Q9UHH7	Silent	SNP	ENST00000244050.2	37	CCDS13423.1																																																																																			.		0.622	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1		
LAMA5	3911	ucsc.edu	37	20	60891785	60891785	+	Silent	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr20:60891785C>T	ENST00000252999.3	-	57	7764	c.7698G>A	c.(7696-7698)ctG>ctA	p.L2566L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2566	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGCTGTTGGCCAGGAGCTGCT	0.687																																					p.L2566L													.	LAMA5-93	0			c.G7698A						.						26.0	21.0	22.0					20																	60891785		2181	4279	6460	SO:0001819	synonymous_variant	3911	exon57			GTTGGCCAGGAGC	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7698G>A	20.37:g.60891785C>T		Somatic	24	0		WXS	Illumina HiSeq		31	5	NM_005560	0	0	73	73	0	Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	CCDS33502.1																																																																																			.		0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	
KRTAP10-3	386682	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	45978008	45978008	+	Silent	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr21:45978008G>A	ENST00000391620.1	-	1	635	c.591C>T	c.(589-591)ctC>ctT	p.L197L	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	197	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGCGGCAGAGGAGGGACACGC	0.701																																					p.L197L		.											.	KRTAP10-3-91	0			c.C591T						.						29.0	35.0	33.0					21																	45978008		2199	4295	6494	SO:0001819	synonymous_variant	386682	exon1			GCAGAGGAGGGAC	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.591C>T	21.37:g.45978008G>A		Somatic	68	0		WXS	Illumina HiSeq	Phase_I	33	16	NM_198696	0	0	0	0	0	A3KN67|Q70LJ4	Silent	SNP	ENST00000391620.1	37	CCDS42956.1																																																																																			.		0.701	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1		
GSTT1	2952	broad.mit.edu;bcgsc.ca	37	22	24376512	24376512	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr22:24376512C>T	ENST00000248935.5	-	5	686	c.634G>A	c.(634-636)Gag>Aag	p.E212K	GSTT1_ENST00000439996.2_Missense_Mutation_p.E94K|KB-226F1.1_ENST00000608619.1_RNA	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN		212	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	AGAATGACCTCATGGGCCTCC	0.632									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																												p.E212K													.	GSTT1-91	0			c.G634A						.						39.0	44.0	42.0					22																	24376512		1679	3587	5266	SO:0001583	missense	2952	exon5	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML	TGACCTCATGGGC																												ENST00000248935.5:c.634G>A	22.37:g.24376512C>T	ENSP00000248935:p.Glu212Lys	Somatic	49	0		WXS	Illumina HiSeq	Phase_I	80	7	NM_000853	0	0	227	233	6	O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Missense_Mutation	SNP	ENST00000248935.5	37	CCDS13822.1	.	.	.	.	.	.	.	.	.	.	.	14.79	2.640100	0.47153	.	.	ENSG00000184674	ENST00000436103;ENST00000248935;ENST00000382792;ENST00000439996	T;T;T	0.46451	0.87;2.28;2.28	4.75	4.75	0.60458	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.059936	0.64402	D	0.000004	T	0.30792	0.0776	L	0.42529	1.33	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.08207	-1.0733	10	0.14656	T	0.56	-33.6007	9.1406	0.36901	0.0:0.9024:0.0:0.0976	.	212	P30711	GSTT1_HUMAN	K	80;212;133;94	ENSP00000389481:E80K;ENSP00000248935:E212K;ENSP00000401632:E94K	ENSP00000248935:E212K	E	-	1	0	GSTT1	22706512	0.751000	0.28327	0.997000	0.53966	0.804000	0.45430	0.450000	0.21762	2.648000	0.89879	0.650000	0.86243	GAG	.		0.632	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2		
SEPT3	55964	hgsc.bcm.edu	37	22	42373072	42373072	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr22:42373072T>G	ENST00000396426.3	+	1	259	c.4T>G	c.(4-6)Tcc>Gcc	p.S2A	SEPT3_ENST00000406029.1_Missense_Mutation_p.S2A|SEPT3_ENST00000291236.11_Missense_Mutation_p.S2A|SEPT3_ENST00000328414.8_Missense_Mutation_p.S2A|SEPT3_ENST00000396425.3_Missense_Mutation_p.S2A	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	2					cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						AGGATTCATGTCCAAAGGTAG	0.751																																					p.S2A		.											.	SEPT3-68	0			c.T4G						.						16.0	20.0	18.0					22																	42373072		1864	4070	5934	SO:0001583	missense	55964	exon1			TTCATGTCCAAAG	AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.4T>G	22.37:g.42373072T>G	ENSP00000379704:p.Ser2Ala	Somatic	32	0		WXS	Illumina HiSeq	Phase_I	38	3	NM_019106	0	0	0	0	0	B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	ENST00000396426.3	37	CCDS14026.2	.	.	.	.	.	.	.	.	.	.	T	12.30	1.895922	0.33442	.	.	ENSG00000100167	ENST00000396426;ENST00000406029;ENST00000328414;ENST00000396425;ENST00000291236	T;T;T;T	0.50813	0.73;0.8;0.74;0.8	3.43	2.36	0.29203	.	1.353170	0.05787	U	0.609675	T	0.30510	0.0767	N	0.08118	0	0.19945	N	0.999949	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.10450	0.0;0.005;0.001;0.001	T	0.30736	-0.9968	10	0.87932	D	0	.	7.9052	0.29757	0.0:0.0:0.2102:0.7898	.	2;2;2;2	B7Z686;B1AHR1;Q9UH03-2;Q9UH03	.;.;.;SEPT3_HUMAN	A	2	ENSP00000379704:S2A;ENSP00000383956:S2A;ENSP00000379703:S2A;ENSP00000291236:S2A	ENSP00000291236:S2A	S	+	1	0	SEPT3	40703018	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	3.884000	0.56175	0.464000	0.27142	0.165000	0.16767	TCC	.		0.751	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734	
ZNF620	253639	bcgsc.ca	37	3	40553892	40553892	+	Splice_Site	SNP	G	G	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:40553892G>C	ENST00000314529.6	+	4	300		c.e4-1		ZNF620_ENST00000418905.1_Intron	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TCCCTGGGCAGCATTCCCATT	0.562																																					.													.	ZNF620-91	0			c.152-1G>C						.						75.0	73.0	74.0					3																	40553892		2203	4300	6503	SO:0001630	splice_region_variant	253639	exon4			TGGGCAGCATTCC	AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"""Zinc fingers, C2H2-type"", ""-"""	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.152-1G>C	3.37:g.40553892G>C		Somatic	36	0		WXS	Illumina HiSeq	Phase_1	57	4	NM_175888	0	0	0	0	0	Q8N223	Splice_Site	SNP	ENST00000314529.6	37	CCDS33740.1	.	.	.	.	.	.	.	.	.	.	G	7.158	0.585110	0.13749	.	.	ENSG00000177842	ENST00000420891;ENST00000314529	.	.	.	2.19	2.19	0.27852	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8528	0.24024	0.0:0.2925:0.7075:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF620	40528896	0.039000	0.19947	0.010000	0.14722	0.112000	0.19704	1.741000	0.38238	1.517000	0.48917	0.557000	0.71058	.	.		0.562	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342824.1	XM_171060	Intron
FBXW12	285231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	48436087	48436087	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:48436087A>G	ENST00000296438.5	+	11	1544	c.1358A>G	c.(1357-1359)gAc>gGc	p.D453G	FBXW12_ENST00000445170.1_Missense_Mutation_p.D434G|FBXW12_ENST00000415155.1_Missense_Mutation_p.D383G|FBXW12_ENST00000468158.1_Intron|FBXW12_ENST00000436231.1_Missense_Mutation_p.D296G	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	453										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAAGTAAGTGACTCCAGCATT	0.358																																					p.D453G		.											.	FBXW12-226	0			c.A1358G						.						155.0	144.0	147.0					3																	48436087		2203	4300	6503	SO:0001583	missense	285231	exon11			TAAGTGACTCCAG	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.1358A>G	3.37:g.48436087A>G	ENSP00000296438:p.Asp453Gly	Somatic	121	1		WXS	Illumina HiSeq	Phase_I	197	65	NM_207102	0	0	0	0	0	E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	CCDS2764.1	.	.	.	.	.	.	.	.	.	.	A	3.674	-0.066986	0.07273	.	.	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000436231;ENST00000445170;ENST00000415155	T;T;T;T	0.27256	2.11;1.69;1.68;1.71	3.33	-3.75	0.04372	.	2.083830	0.03331	N	0.193337	T	0.06690	0.0171	N	0.01874	-0.695	0.09310	N	1	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	0.21075	-1.0256	10	0.02654	T	1	-4.1095	1.0856	0.01652	0.2988:0.1857:0.3473:0.1683	.	352;434;383;453	E9PCA2;E9PG36;Q494Z0;Q6X9E4	.;.;.;FBW12_HUMAN	G	352;453;296;434;383	ENSP00000296438:D453G;ENSP00000413866:D296G;ENSP00000406139:D434G;ENSP00000414683:D383G	ENSP00000296438:D453G	D	+	2	0	FBXW12	48411091	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.770000	0.04705	-0.780000	0.04553	-0.468000	0.05107	GAC	.		0.358	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102	
KIAA1407	57577	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	113721375	113721375	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:113721375C>A	ENST00000295878.3	-	12	2135	c.1989G>T	c.(1987-1989)gaG>gaT	p.E663D	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	663										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GAATTGCTCTCTCTTCCATAG	0.318																																					p.E663D		.											.	KIAA1407-92	0			c.G1989T						.						90.0	83.0	86.0					3																	113721375		2202	4299	6501	SO:0001583	missense	57577	exon12			TGCTCTCTCTTCC	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1989G>T	3.37:g.113721375C>A	ENSP00000295878:p.Glu663Asp	Somatic	51	0		WXS	Illumina HiSeq	Phase_I	108	34	NM_020817	0	0	2	4	2	B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887102	0.33348	.	.	ENSG00000163617	ENST00000295878	T	0.35048	1.33	5.35	4.48	0.54585	.	1.585750	0.04130	N	0.317747	T	0.61299	0.2336	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.35101	-0.9802	10	0.59425	D	0.04	.	9.6228	0.39732	0.0:0.8395:0.0:0.1605	.	663	Q8NCU4	K1407_HUMAN	D	663	ENSP00000295878:E663D	ENSP00000295878:E663D	E	-	3	2	KIAA1407	115204065	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.489000	0.22387	1.635000	0.50512	0.655000	0.94253	GAG	.		0.318	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817	
POLQ	10721	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	121217327	121217327	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:121217327T>G	ENST00000264233.5	-	13	2278	c.2150A>C	c.(2149-2151)aAa>aCa	p.K717T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	717					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CGTTTACCTTTTATGGATGGC	0.453								DNA polymerases (catalytic subunits)																													p.K717T	Pancreas(152;907 1925 26081 31236 36904)	.											.	POLQ-664	0			c.A2150C						.						164.0	147.0	153.0					3																	121217327		2203	4300	6503	SO:0001583	missense	10721	exon13			TACCTTTTATGGA	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2150A>C	3.37:g.121217327T>G	ENSP00000264233:p.Lys717Thr	Somatic	170	0		WXS	Illumina HiSeq	Phase_I	221	118	NM_199420	0	0	0	0	0	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369837	0.82573	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.53857	0.6	5.83	5.83	0.93111	.	0.049703	0.85682	D	0.000000	T	0.69584	0.3127	M	0.85945	2.785	0.49582	D	0.999802	D	0.57257	0.979	P	0.58130	0.833	T	0.75199	-0.3402	10	0.87932	D	0	.	10.5218	0.44922	0.0:0.072:0.0:0.928	.	717	O75417	DPOLQ_HUMAN	T	340;717;853	ENSP00000264233:K717T	ENSP00000264233:K717T	K	-	2	0	POLQ	122700017	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.866000	0.69590	2.212000	0.71576	0.533000	0.62120	AAA	.		0.453	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
SEC62	7095	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	169706125	169706125	+	Silent	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:169706125C>T	ENST00000337002.4	+	7	766	c.708C>T	c.(706-708)gcC>gcT	p.A236A	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000470355.1_3'UTR|SEC62_ENST00000480708.1_Silent_p.A236A	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	236					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						GTTTTGTAGCCAGTATTCTTC	0.433																																					p.A236A		.											.	SEC62-69	0			c.C708T						.						208.0	189.0	195.0					3																	169706125		2203	4300	6503	SO:0001819	synonymous_variant	7095	exon7			TGTAGCCAGTATT	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"""translocation protein 1"""	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.708C>T	3.37:g.169706125C>T		Somatic	150	0		WXS	Illumina HiSeq	Phase_I	180	49	NM_003262	0	0	59	89	30	D3DNQ0|O00682|O00729	Silent	SNP	ENST00000337002.4	37	CCDS3210.1																																																																																			.		0.433	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1		
ACAP2	23527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	195006526	195006526	+	Splice_Site	SNP	T	T	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:195006526T>C	ENST00000326793.6	-	22	2465	c.2235A>G	c.(2233-2235)ccA>ccG	p.P745P		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	745					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AATATTGACCTGGCTGTCCAT	0.313																																					p.P745P		.											.	ACAP2-136	0			c.A2235G						.						131.0	120.0	124.0					3																	195006526		2203	4299	6502	SO:0001630	splice_region_variant	23527	exon22			TTGACCTGGCTGT		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.2236+1A>G	3.37:g.195006526T>C		Somatic	63	0		WXS	Illumina HiSeq	Phase_I	81	15	NM_012287	0	0	0	1	1	A8K2V4|Q8N5Z8|Q9UQR3	Silent	SNP	ENST00000326793.6	37	CCDS33924.1																																																																																			.		0.313	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287	Silent
LMLN	89782	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	197687145	197687145	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:197687145G>A	ENST00000330198.4	+	1	75	c.53G>A	c.(52-54)gGt>gAt	p.G18D	LMLN_ENST00000420910.2_Missense_Mutation_p.G18D|IQCG_ENST00000480302.1_5'Flank|LMLN_ENST00000332636.5_Silent_p.G6G|IQCG_ENST00000265239.6_5'Flank|LMLN_ENST00000482695.1_Silent_p.G6G	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	18					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GGAGGAGTGGGTTACTCGGGC	0.736																																					p.G18D		.											.	LMLN-91	0			c.G53A						.						21.0	26.0	25.0					3																	197687145		2199	4297	6496	SO:0001583	missense	89782	exon1			GAGTGGGTTACTC	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.53G>A	3.37:g.197687145G>A	ENSP00000328829:p.Gly18Asp	Somatic	47	0		WXS	Illumina HiSeq	Phase_I	61	13	NM_001136049	0	0	9	9	0	B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.349097	0.24426	.	.	ENSG00000185621	ENST00000330198;ENST00000420910	T;T	0.45276	0.92;0.9	3.66	0.764	0.18465	.	0.675595	0.12533	N	0.460640	T	0.22044	0.0531	N	0.19112	0.55	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.16012	-1.0417	10	0.36615	T	0.2	-0.6469	2.1617	0.03827	0.1124:0.1977:0.4859:0.204	.	18;18	Q96KR4;F8WB28	LMLN_HUMAN;.	D	18	ENSP00000328829:G18D;ENSP00000410926:G18D	ENSP00000328829:G18D	G	+	2	0	LMLN	199171542	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	0.016000	0.13377	0.154000	0.19237	0.456000	0.33151	GGT	.		0.736	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029	
CWH43	80157	broad.mit.edu	37	4	49040168	49040168	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr4:49040168C>G	ENST00000226432.4	+	13	1957	c.1774C>G	c.(1774-1776)Cta>Gta	p.L592V	CWH43_ENST00000513409.1_Missense_Mutation_p.L565V	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	592					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CAGAGATTATCTACAGCTCAC	0.323																																					p.L592V													.	CWH43-93	0			c.C1774G						.						127.0	136.0	133.0					4																	49040168		2203	4300	6503	SO:0001583	missense	80157	exon13			GATTATCTACAGC		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1774C>G	4.37:g.49040168C>G	ENSP00000226432:p.Leu592Val	Somatic	290	0		WXS	Illumina HiSeq	Phase_I	284	5	NM_025087	0	0	0	0	0	B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.426451	0.01117	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.29655	1.56;1.56	3.99	1.18	0.20946	Endonuclease/exonuclease/phosphatase (1);	1.583370	0.03606	N	0.234129	T	0.19327	0.0464	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20638	-1.0269	9	.	.	.	.	7.7558	0.28923	0.5584:0.3029:0.1388:0.0	.	592	Q9H720	PG2IP_HUMAN	V	592;565	ENSP00000226432:L592V;ENSP00000422802:L565V	.	L	+	1	2	CWH43	48734925	0.002000	0.14202	0.038000	0.18304	0.945000	0.59286	0.220000	0.17660	0.222000	0.20900	0.555000	0.69702	CTA	.		0.323	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087	
TET2	54790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	106157461	106157461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr4:106157461G>T	ENST00000540549.1	+	3	3222	c.2362G>T	c.(2362-2364)Gaa>Taa	p.E788*	TET2_ENST00000380013.4_Nonsense_Mutation_p.E788*|TET2_ENST00000545826.1_Nonsense_Mutation_p.E788*|TET2_ENST00000305737.2_Nonsense_Mutation_p.E788*|TET2_ENST00000513237.1_Nonsense_Mutation_p.E809*|TET2_ENST00000413648.2_Nonsense_Mutation_p.E788*|TET2_ENST00000394764.1_Nonsense_Mutation_p.E788*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	788	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)	p.E788K(1)|p.E788*(1)		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)		TTTTCATGGTGAAAATCAGTA	0.393			"""Mis N, F"""		MDS																																p.E788X		.		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	TET2-4618	2	Substitution - Nonsense(1)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(2)	c.G2362T						.						57.0	60.0	59.0					4																	106157461		2203	4300	6503	SO:0001587	stop_gained	54790	exon3			CATGGTGAAAATC	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.2362G>T	4.37:g.106157461G>T	ENSP00000442788:p.Glu788*	Somatic	43	0		WXS	Illumina HiSeq	Phase_I	49	24	NM_001127208	0	0	3	6	3	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	G	42	9.661685	0.99231	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	.	.	.	5.91	5.91	0.95273	.	16.416400	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	X	788;788;788;809;788;788;788	.	ENSP00000265149:E788X	E	+	1	0	TET2	106376910	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	4.534000	0.60622	2.793000	0.96121	0.655000	0.94253	GAA	.		0.393	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628	
TRPC3	7222	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	122853525	122853525	+	Silent	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr4:122853525G>A	ENST00000379645.3	-	2	961	c.888C>T	c.(886-888)agC>agT	p.S296S	TRPC3_ENST00000264811.5_Silent_p.S223S|TRPC3_ENST00000513531.1_Silent_p.S223S	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	211					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGTAAGCCGGGCTGGCCAGCC	0.587																																					p.S296S													.	TRPC3-92	0			c.C888T						.						45.0	41.0	42.0					4																	122853525		2203	4300	6503	SO:0001819	synonymous_variant	7222	exon2			AGCCGGGCTGGCC	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.888C>T	4.37:g.122853525G>A		Somatic	46	0		WXS	Illumina HiSeq	Phase_I	29	10	NM_001130698	0	0	0	0	0	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	ENST00000379645.3	37	CCDS47130.1																																																																																			.		0.587	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305	
CPE	1363	bcgsc.ca	37	4	166385584	166385584	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr4:166385584A>G	ENST00000402744.4	+	2	630	c.350A>G	c.(349-351)gAg>gGg	p.E117G		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	117					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CATGGGAATGAGGCTGTTGGA	0.418											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E117G													.	CPE-155	0			c.A350G						.						171.0	152.0	158.0					4																	166385584		2203	4300	6503	SO:0001583	missense	1363	exon2			GGAATGAGGCTGT	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.350A>G	4.37:g.166385584A>G	ENSP00000386104:p.Glu117Gly	Somatic	67	0	1854	WXS	Illumina HiSeq	Phase_1	59	4	NM_001873	0	0	40	40	0	A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.648987	0.87958	.	.	ENSG00000109472	ENST00000513982;ENST00000402744;ENST00000261510;ENST00000431967;ENST00000511992	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.3	5.3	0.74995	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.78233	0.4251	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83881	0.0279	10	0.87932	D	0	-24.5917	15.2255	0.73348	1.0:0.0:0.0:0.0	.	117	P16870	CBPE_HUMAN	G	5;117;81;5;5	ENSP00000424830:E5G;ENSP00000386104:E117G;ENSP00000416601:E5G;ENSP00000423699:E5G	ENSP00000261510:E81G	E	+	2	0	CPE	166605034	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.253000	0.95501	2.009000	0.58944	0.477000	0.44152	GAG	.		0.418	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873	
FAT1	2195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	187530418	187530418	+	Silent	SNP	T	T	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr4:187530418T>A	ENST00000441802.2	-	16	10334	c.10125A>T	c.(10123-10125)atA>atT	p.I3375I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3375	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGTTGCCATCTATAATTGAGT	0.478										HNSCC(5;0.00058)																											p.I3375I	Colon(197;1040 2055 4143 4984 49344)	.											.	FAT1-34	0			c.A10125T						.						126.0	121.0	123.0					4																	187530418		1933	4136	6069	SO:0001819	synonymous_variant	2195	exon16			GCCATCTATAATT	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10125A>T	4.37:g.187530418T>A		Somatic	73	0		WXS	Illumina HiSeq	Phase_I	82	32	NM_005245	0	0	114	236	122		Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																			.		0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
AGGF1	55109	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	76344781	76344781	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr5:76344781C>A	ENST00000312916.7	+	8	1716	c.1334C>A	c.(1333-1335)aCt>aAt	p.T445N		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	445	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ATGGAACATACTCTCCGAATC	0.294																																					p.T445N		.											.	AGGF1-117	0			c.C1334A						.						97.0	106.0	103.0					5																	76344781		2203	4295	6498	SO:0001583	missense	55109	exon8			AACATACTCTCCG	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.1334C>A	5.37:g.76344781C>A	ENSP00000316109:p.Thr445Asn	Somatic	150	0		WXS	Illumina HiSeq	Phase_I	179	82	NM_018046	0	0	15	33	18	O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028459	0.54790	.	.	ENSG00000164252	ENST00000312916	T	0.39592	1.07	4.64	4.64	0.57946	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.105294	0.64402	D	0.000003	T	0.41627	0.1167	N	0.17723	0.515	0.80722	D	1	P	0.51653	0.947	P	0.52424	0.698	T	0.36286	-0.9754	10	0.44086	T	0.13	-4.4424	16.8258	0.85930	0.0:1.0:0.0:0.0	.	445	Q8N302	AGGF1_HUMAN	N	445	ENSP00000316109:T445N	ENSP00000316109:T445N	T	+	2	0	AGGF1	76380537	1.000000	0.71417	0.987000	0.45799	0.743000	0.42351	7.194000	0.77789	2.285000	0.76669	0.305000	0.20034	ACT	.		0.294	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046	
PCDH12	51294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	141336615	141336615	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr5:141336615C>T	ENST00000231484.3	-	1	2012	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	268	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A268T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTCTGTGGCGGTCAGTTTT	0.527																																					p.A268T		.											.	PCDH12-93	1	Substitution - Missense(1)	large_intestine(1)	c.G802A						.						97.0	95.0	96.0					5																	141336615		2203	4300	6503	SO:0001583	missense	51294	exon1			CTGTGGCGGTCAG	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.802G>A	5.37:g.141336615C>T	ENSP00000231484:p.Ala268Thr	Somatic	76	0		WXS	Illumina HiSeq	Phase_I	97	37	NM_016580	0	0	5	5	0	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727645	0.89390	.	.	ENSG00000113555	ENST00000231484	T	0.61392	0.11	5.32	5.32	0.75619	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.82190	0.4983	M	0.93283	3.4	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.86437	0.1764	10	0.87932	D	0	.	16.5409	0.84384	0.0:1.0:0.0:0.0	.	268	Q9NPG4	PCD12_HUMAN	T	268	ENSP00000231484:A268T	ENSP00000231484:A268T	A	-	1	0	PCDH12	141316799	1.000000	0.71417	0.991000	0.47740	0.932000	0.56968	7.651000	0.83577	2.767000	0.95098	0.655000	0.94253	GCC	.		0.527	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580	
PHYKPL	85007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	177642285	177642285	+	Silent	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr5:177642285C>T	ENST00000308158.5	-	9	1308	c.1074G>A	c.(1072-1074)ggG>ggA	p.G358G	PHYKPL_ENST00000481811.1_5'UTR	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	358						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	ACCTGACATCCCCGACGATGG	0.567																																					p.G358G		.											.	AGXT2L2-91	0			c.G1074A						.						42.0	39.0	40.0					5																	177642285		2203	4300	6503	SO:0001819	synonymous_variant	85007	exon9			GACATCCCCGACG	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.1074G>A	5.37:g.177642285C>T		Somatic	62	0		WXS	Illumina HiSeq	Phase_I	53	27	NM_153373	0	0	0	0	0	A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Silent	SNP	ENST00000308158.5	37	CCDS4434.1																																																																																			.		0.567	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921	
OR2Y1	134083	broad.mit.edu;bcgsc.ca	37	5	180166694	180166694	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr5:180166694C>T	ENST00000307832.2	-	1	405	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCAGCATAGCGGTCAAAGGC	0.607																																					p.R122H													.	OR2Y1-68	0			c.G365A						.						77.0	64.0	68.0					5																	180166694		2203	4300	6503	SO:0001583	missense	134083	exon1			GCATAGCGGTCAA	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.365G>A	5.37:g.180166694C>T	ENSP00000312403:p.Arg122His	Somatic	49	0		WXS	Illumina HiSeq	Phase_I	35	11	NM_001001657	0	0	0	0	0	B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	c	12.25	1.880972	0.33255	.	.	ENSG00000174339	ENST00000307832	T	0.77489	-1.1	4.41	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.128292	0.36134	N	0.002767	T	0.78755	0.4333	M	0.91249	3.19	0.32000	N	0.603464	P	0.35551	0.509	B	0.28553	0.091	D	0.83720	0.0192	10	0.87932	D	0	.	10.5089	0.44849	0.0:0.903:0.0:0.097	.	122	Q8NGV0	OR2Y1_HUMAN	H	122	ENSP00000312403:R122H	ENSP00000312403:R122H	R	-	2	0	OR2Y1	180099300	1.000000	0.71417	0.997000	0.53966	0.025000	0.11179	3.930000	0.56522	1.197000	0.43143	0.511000	0.50034	CGC	.		0.607	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682	
MRS2	57380	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	24418322	24418322	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr6:24418322A>T	ENST00000378386.3	+	8	940	c.847A>T	c.(847-849)Agt>Tgt	p.S283C	MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000535061.1_Missense_Mutation_p.S233C|MRS2_ENST00000443868.2_Missense_Mutation_p.S286C|MRS2_ENST00000378353.1_Missense_Mutation_p.S283C	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	283						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TGAAAAGAGCAGTGCTGGGAT	0.388																																					p.S283C		.											.	MRS2-68	0			c.A847T						.						121.0	112.0	115.0					6																	24418322		2203	4300	6503	SO:0001583	missense	57380	exon8			AAGAGCAGTGCTG	AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"""MRS2-like, magnesium homeostasis factor (S. cerevisiae)"", ""MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"""	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.847A>T	6.37:g.24418322A>T	ENSP00000367637:p.Ser283Cys	Somatic	74	1		WXS	Illumina HiSeq	Phase_I	99	43	NM_020662	0	0	0	0	0	A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Missense_Mutation	SNP	ENST00000378386.3	37	CCDS4552.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.390435	0.62066	.	.	ENSG00000124532	ENST00000535061;ENST00000378386;ENST00000378353;ENST00000443868	T;T;T;T	0.50548	1.34;1.32;0.74;1.31	6.06	4.92	0.64577	.	0.084750	0.85682	D	0.000000	T	0.52853	0.1760	M	0.63843	1.955	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.481;0.997	D;D;B;P	0.68353	0.934;0.957;0.164;0.846	T	0.57124	-0.7865	10	0.56958	D	0.05	-22.8995	9.6962	0.40158	0.8692:0.0:0.1308:0.0	.	233;286;283;283	F5GWH3;B4DQL2;Q9HD23;Q9HD23-2	.;.;MRS2_HUMAN;.	C	233;283;283;286	ENSP00000441839:S233C;ENSP00000367637:S283C;ENSP00000367604:S283C;ENSP00000399585:S286C	ENSP00000367604:S283C	S	+	1	0	MRS2	24526301	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	3.503000	0.53340	2.326000	0.78906	0.472000	0.43445	AGT	.		0.388	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1		
KCTD20	222658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	36454734	36454734	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr6:36454734C>T	ENST00000373731.2	+	8	1433	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000544295.1_Missense_Mutation_p.R102C|KCTD20_ENST00000536244.1_Missense_Mutation_p.R203C|KCTD20_ENST00000449081.2_Missense_Mutation_p.R182C	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	348					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TTATGTACAACGCCCCTTCAT	0.463																																					p.R348C		.											.	KCTD20-92	0			c.C1042T						.						90.0	96.0	94.0					6																	36454734		2203	4300	6503	SO:0001583	missense	222658	exon8			GTACAACGCCCCT	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.1042C>T	6.37:g.36454734C>T	ENSP00000362836:p.Arg348Cys	Somatic	182	0		WXS	Illumina HiSeq	Phase_I	119	45	NM_173562	0	0	17	31	14	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701883	0.88924	.	.	ENSG00000112078	ENST00000373731;ENST00000544295;ENST00000449081;ENST00000536244	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	6.03	6.03	0.97812	.	0.061169	0.64402	N	0.000003	D	0.87148	0.6105	L	0.53561	1.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.87043	0.2142	10	0.56958	D	0.05	-18.2215	15.2928	0.73879	0.14:0.86:0.0:0.0	.	182;348	Q7Z5Y7-2;Q7Z5Y7	.;KCD20_HUMAN	C	348;102;182;203	ENSP00000362836:R348C;ENSP00000440150:R102C;ENSP00000412205:R182C;ENSP00000439118:R203C	ENSP00000362836:R348C	R	+	1	0	KCTD20	36562712	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.971000	0.40530	2.861000	0.98227	0.655000	0.94253	CGC	.		0.463	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562	
ULBP1	80329	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	150289835	150289835	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr6:150289835C>A	ENST00000229708.3	+	2	221	c.178C>A	c.(178-180)Cct>Act	p.P60T		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	60	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GGATGAAAGGCCTTTTCTTCA	0.453																																					p.P60T		.											.	ULBP1-91	0			c.C178A						.						133.0	133.0	133.0					6																	150289835		2203	4300	6503	SO:0001583	missense	80329	exon2			GAAAGGCCTTTTC	AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.178C>A	6.37:g.150289835C>A	ENSP00000229708:p.Pro60Thr	Somatic	213	0		WXS	Illumina HiSeq	Phase_I	192	90	NM_025218	0	0	0	0	0	Q5VY81|Q8IZW3|Q8IZX6	Missense_Mutation	SNP	ENST00000229708.3	37	CCDS5223.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.109641	0.00353	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	T;T	0.00682	5.86;5.86	2.2	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00144	0.0004	N	0.11927	0.2	0.09310	N	1	B	0.10296	0.003	B	0.17098	0.017	T	0.45101	-0.9284	9	0.72032	D	0.01	.	1.2925	0.02063	0.2296:0.3696:0.2522:0.1487	.	60	Q9BZM6	N2DL1_HUMAN	T	60	ENSP00000356314:P60T;ENSP00000229708:P60T	ENSP00000229708:P60T	P	+	1	0	ULBP1	150331528	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-4.865000	0.00176	-2.597000	0.00453	-0.834000	0.03071	CCT	.		0.453	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2		
MLLT4	4301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	168344092	168344092	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr6:168344092T>A	ENST00000447894.2	+	24	3155	c.3155T>A	c.(3154-3156)cTa>cAa	p.L1052Q	MLLT4_ENST00000392108.3_Missense_Mutation_p.L1052Q|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000344191.4_Missense_Mutation_p.L1052Q|MLLT4_ENST00000392112.1_Missense_Mutation_p.L1035Q|MLLT4_ENST00000400822.3_Missense_Mutation_p.L1051Q|MLLT4_ENST00000366806.2_Missense_Mutation_p.L1052Q|MLLT4_ENST00000351017.4_Missense_Mutation_p.L1059Q			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1052	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GATGGACGTCTAGCTGCAGGT	0.458			T	MLL	AL																																p.L1052Q		.		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	.	MLLT4-685	0			c.T3155A						.						244.0	221.0	229.0					6																	168344092		2203	4300	6503	SO:0001583	missense	4301	exon24			GACGTCTAGCTGC	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3155T>A	6.37:g.168344092T>A	ENSP00000404595:p.Leu1052Gln	Somatic	233	0		WXS	Illumina HiSeq	Phase_I	250	105	NM_001040000	0	0	0	0	0	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37		.	.	.	.	.	.	.	.	.	.	T	23.7	4.441746	0.83993	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.18	5.18	0.71444	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000010	T	0.76751	0.4031	H	0.97983	4.12	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;0.997	D	0.86288	0.1672	10	0.87932	D	0	-11.2076	15.0548	0.71904	0.0:0.0:0.0:1.0	.	1052;1051;1052;1036	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	Q	1052;1059;1052;1052;1035;1052;1051;1052	ENSP00000341118:L1052Q;ENSP00000252692:L1059Q;ENSP00000375956:L1052Q;ENSP00000355771:L1052Q;ENSP00000375960:L1035Q;ENSP00000383623:L1051Q;ENSP00000404595:L1052Q	ENSP00000345834:L1052Q	L	+	2	0	MLLT4	168086941	1.000000	0.71417	0.015000	0.15790	0.985000	0.73830	7.440000	0.80464	1.954000	0.56735	0.528000	0.53228	CTA	.		0.458	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	
TNRC18	84629	hgsc.bcm.edu	37	7	5401235	5401235	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr7:5401235T>G	ENST00000430969.1	-	14	4999	c.4651A>C	c.(4651-4653)Agt>Cgt	p.S1551R	TNRC18_ENST00000399537.4_Missense_Mutation_p.S1551R	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1551							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TTTCCGCTACTGTGGCCGCTC	0.716																																					p.S1551R		.											.	TNRC18-46	0			c.A4651C						.						13.0	15.0	14.0					7																	5401235		1511	3484	4995	SO:0001583	missense	84629	exon14			CGCTACTGTGGCC	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4651A>C	7.37:g.5401235T>G	ENSP00000395538:p.Ser1551Arg	Somatic	6	2		WXS	Illumina HiSeq	Phase_I	15	13	NM_001080495	0	0	0	0	0	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	T	12.54	1.968807	0.34754	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544	T;T	0.12361	2.69;2.69	4.84	2.36	0.29203	.	0.381607	0.19384	N	0.115570	T	0.07908	0.0198	L	0.27053	0.805	0.29152	N	0.878318	B	0.02656	0.0	B	0.01281	0.0	T	0.39603	-0.9606	10	0.10902	T	0.67	.	7.6555	0.28373	0.0:0.0756:0.1472:0.7771	.	1551	O15417	TNC18_HUMAN	R	1551;1551;606	ENSP00000382452:S1551R;ENSP00000395538:S1551R	ENSP00000382452:S1551R	S	-	1	0	TNRC18	5367761	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	1.920000	0.40025	0.188000	0.20168	0.459000	0.35465	AGT	.		0.716	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
ACTB	60	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	5568236	5568236	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr7:5568236T>C	ENST00000331789.5	-	4	669	c.478A>G	c.(478-480)Acc>Gcc	p.T160A	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	160			T -> I (in dbSNP:rs11549206).		adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		ACAGTGTGGGTGACCCCGTCA	0.607																																					p.T160A		.											.	ACTB-226	0			c.A478G						.						76.0	76.0	76.0					7																	5568236		2203	4300	6503	SO:0001583	missense	60	exon4			TGTGGGTGACCCC	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.478A>G	7.37:g.5568236T>C	ENSP00000349960:p.Thr160Ala	Somatic	152	1		WXS	Illumina HiSeq	Phase_I	149	98	NM_001101	4	6	2411	5733	3312	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.609394	0.46527	.	.	ENSG00000075624	ENST00000331789;ENST00000400179;ENST00000320713;ENST00000432588	D;D	0.98296	-4.85;-3.8	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000011	D	0.98040	0.9354	M	0.93016	3.37	0.42954	D	0.994384	B	0.02656	0.0	B	0.11329	0.006	D	0.97321	0.9944	10	0.87932	D	0	.	13.2628	0.60115	0.0:0.0:0.0:1.0	.	160	P60709	ACTB_HUMAN	A	160;132;79;160	ENSP00000349960:T160A;ENSP00000407473:T160A	ENSP00000440549:T79A	T	-	1	0	ACTB	5534762	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.862000	0.69560	2.022000	0.59522	0.529000	0.55759	ACC	.		0.607	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101	
C7orf26	79034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	6639834	6639834	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr7:6639834T>G	ENST00000344417.5	+	4	1222	c.955T>G	c.(955-957)Ttc>Gtc	p.F319V	C7orf26_ENST00000359073.5_Missense_Mutation_p.F222V|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	319										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GCTGATCCTCTTCGACCACAT	0.582																																					p.F319V		.											.	C7orf26-91	0			c.T955G						.						59.0	52.0	54.0					7																	6639834		2203	4300	6503	SO:0001583	missense	79034	exon4			ATCCTCTTCGACC	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.955T>G	7.37:g.6639834T>G	ENSP00000340220:p.Phe319Val	Somatic	48	0		WXS	Illumina HiSeq	Phase_I	46	29	NM_024067	0	0	15	33	18	Q9BQ43	Missense_Mutation	SNP	ENST00000344417.5	37	CCDS5353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.95|10.95	1.496091|1.496091	0.26774|0.26774	.|.	.|.	ENSG00000146576|ENSG00000146576	ENST00000344417;ENST00000359073|ENST00000445375	T;T|T	0.39997|0.40756	1.05;1.05|1.02	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.213127|.	0.53938|.	D|.	0.000054|.	T|T	0.30103|0.30103	0.0754|0.0754	N|N	0.19112|0.19112	0.55|0.55	0.29914|0.29914	N|N	0.823337|0.823337	B;B|.	0.17038|.	0.02;0.02|.	B;B|.	0.14023|.	0.004;0.01|.	T|T	0.12344|0.12344	-1.0551|-1.0551	10|7	0.14656|0.09084	T|T	0.56|0.74	-26.1927|-26.1927	13.6493|13.6493	0.62301|0.62301	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	222;319|.	Q96N11-2;Q96N11|.	.;CG026_HUMAN|.	V|R	319;222|56	ENSP00000340220:F319V;ENSP00000351974:F222V|ENSP00000390166:L56R	ENSP00000340220:F319V|ENSP00000390166:L56R	F|L	+|+	1|2	0|0	C7orf26|C7orf26	6606359|6606359	1.000000|1.000000	0.71417|0.71417	0.466000|0.466000	0.27168|0.27168	0.709000|0.709000	0.40893|0.40893	3.987000|3.987000	0.56944|0.56944	2.268000|2.268000	0.75426|0.75426	0.454000|0.454000	0.30748|0.30748	TTC|CTT	.		0.582	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067	
ASB4	51666	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	95125264	95125264	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr7:95125264G>A	ENST00000325885.5	+	2	453	c.382G>A	c.(382-384)Gat>Aat	p.D128N	ASB4_ENST00000257621.4_3'UTR|ASB4_ENST00000428113.1_Missense_Mutation_p.D128N	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	128					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			GATCCTCTGTGATCGTGGGGC	0.458																																					p.D128N		.											.	ASB4-226	0			c.G382A						.						210.0	156.0	175.0					7																	95125264		2203	4300	6503	SO:0001583	missense	51666	exon2			CTCTGTGATCGTG	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.382G>A	7.37:g.95125264G>A	ENSP00000321388:p.Asp128Asn	Somatic	101	0		WXS	Illumina HiSeq	Phase_I	112	23	NM_016116	0	0	0	0	0	A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692526	0.30052	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.65364	-0.15;-0.15	5.35	5.35	0.76521	Ankyrin repeat-containing domain (3);	0.260422	0.44688	D	0.000432	T	0.48822	0.1521	L	0.38531	1.155	0.33932	D	0.642157	B;B	0.15141	0.009;0.012	B;B	0.15052	0.012;0.011	T	0.56062	-0.8041	10	0.45353	T	0.12	-7.733	7.2877	0.26348	0.2046:0.0:0.7954:0.0	.	128;128	Q9Y574;Q14D68	ASB4_HUMAN;.	N	128	ENSP00000321388:D128N;ENSP00000397070:D128N	ENSP00000321388:D128N	D	+	1	0	ASB4	94963200	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	3.865000	0.56033	2.680000	0.91292	0.655000	0.94253	GAT	.		0.458	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116	
NRCAM	4897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	107808822	107808822	+	Silent	SNP	G	G	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr7:107808822G>A	ENST00000425651.2	-	26	3212	c.3213C>T	c.(3211-3213)agC>agT	p.S1071S	NRCAM_ENST00000379022.4_Silent_p.S1071S|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000379028.3_Silent_p.S1071S|NRCAM_ENST00000379024.4_Intron	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1071	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CAGTAAGATTGCTGATCCTGG	0.363																																					p.S1071S		.											.	NRCAM-156	0			c.C3213T						.						71.0	68.0	69.0					7																	107808822		1891	4119	6010	SO:0001819	synonymous_variant	4897	exon26			AAGATTGCTGATC		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3213C>T	7.37:g.107808822G>A		Somatic	66	0		WXS	Illumina HiSeq	Phase_I	81	27	NM_001037132	0	0	0	0	0	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	9.798	1.179809	0.21787	.	.	ENSG00000091129	ENST00000445634	.	.	.	5.75	1.63	0.23807	.	.	.	.	.	T	0.55433	0.1920	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49624	-0.8920	4	.	.	.	.	7.8556	0.29480	0.0:0.3328:0.2964:0.3708	.	.	.	.	V	21	.	.	A	-	2	0	NRCAM	107596058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.272000	0.33109	0.762000	0.33152	0.650000	0.86243	GCA	.		0.363	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132	
CHD7	55636	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	61654762	61654762	+	Silent	SNP	T	T	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr8:61654762T>C	ENST00000423902.2	+	2	1250	c.771T>C	c.(769-771)caT>caC	p.H257H	CHD7_ENST00000524602.1_Silent_p.H257H|CHD7_ENST00000525508.1_Silent_p.H257H	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	257					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGCAGTTCCATCACCACCCCT	0.582																																					p.H257H		.											.	CHD7-141	0			c.T771C						.						119.0	122.0	121.0					8																	61654762		2099	4221	6320	SO:0001819	synonymous_variant	55636	exon2			GTTCCATCACCAC	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.771T>C	8.37:g.61654762T>C		Somatic	258	1		WXS	Illumina HiSeq	Phase_I	218	89	NM_017780	0	0	3	5	2	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	CCDS47865.1																																																																																			.		0.582	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	
PTPRD	5789	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	8460558	8460558	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr9:8460558G>T	ENST00000381196.4	-	30	4271	c.3728C>A	c.(3727-3729)aCc>aAc	p.T1243N	PTPRD_ENST00000397617.3_Missense_Mutation_p.T822N|PTPRD_ENST00000540109.1_Missense_Mutation_p.T1243N|PTPRD_ENST00000356435.5_Missense_Mutation_p.T1243N|PTPRD_ENST00000397606.3_Missense_Mutation_p.T822N|PTPRD_ENST00000537002.1_Missense_Mutation_p.T829N|PTPRD_ENST00000360074.4_Missense_Mutation_p.T1230N|PTPRD_ENST00000358503.5_Missense_Mutation_p.T1221N|PTPRD_ENST00000355233.5_Missense_Mutation_p.T832N|PTPRD_ENST00000486161.1_Missense_Mutation_p.T832N|PTPRD_ENST00000397611.3_Missense_Mutation_p.T829N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1243					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTAAGGGCTGGTTGCATACAT	0.433										TSP Lung(15;0.13)																											p.T1243N		.											.	PTPRD-912	0			c.C3728A						.						107.0	100.0	102.0					9																	8460558		2203	4300	6503	SO:0001583	missense	5789	exon33			GGGCTGGTTGCAT	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3728C>A	9.37:g.8460558G>T	ENSP00000370593:p.Thr1243Asn	Somatic	85	1		WXS	Illumina HiSeq	Phase_I	94	40	NM_002839	0	0	0	0	0	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179248	0.57800	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.89	4.04	0.47022	.	0.255483	0.44483	D	0.000442	T	0.52289	0.1725	L	0.54323	1.7	0.43879	D	0.996492	B;B;B;B;B;P;B;D;B	0.56521	0.244;0.38;0.38;0.38;0.159;0.514;0.213;0.976;0.187	B;B;B;B;B;B;B;P;B	0.53146	0.026;0.137;0.137;0.137;0.358;0.267;0.093;0.719;0.093	T	0.48340	-0.9044	9	.	.	.	.	10.7731	0.46334	0.0681:0.0:0.7999:0.1319	.	822;827;832;832;829;829;1230;1243;1243	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	N	1243;1243;1230;1221;832;822;829;829;714;1243;832;822	ENSP00000370593:T1243N;ENSP00000348812:T1243N;ENSP00000353187:T1230N;ENSP00000351293:T1221N;ENSP00000347373:T832N;ENSP00000380741:T822N;ENSP00000380735:T829N;ENSP00000440515:T829N;ENSP00000438164:T1243N;ENSP00000417093:T832N;ENSP00000380731:T822N	.	T	-	2	0	PTPRD	8450558	1.000000	0.71417	0.999000	0.59377	0.612000	0.37316	9.444000	0.97578	0.812000	0.34326	-0.259000	0.10710	ACC	.		0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
CEL	1056	broad.mit.edu	37	9	135941956	135941956	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr9:135941956G>T	ENST00000372080.4	+	5	603	c.587G>T	c.(586-588)tGg>tTg	p.W196L	CEL_ENST00000351304.7_Missense_Mutation_p.W193L	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	193					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GCCATTGCTTGGGTGAAGAGG	0.642																																					p.W196L													.	CEL-91	0			c.G587T						.						95.0	105.0	102.0					9																	135941956		1959	4145	6104	SO:0001583	missense	1056	exon5			TTGCTTGGGTGAA	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.587G>T	9.37:g.135941956G>T	ENSP00000361151:p.Trp196Leu	Somatic	174	0		WXS	Illumina HiSeq	Phase_I	145	9	NM_001807	0	0	0	0	0	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046582	0.93740	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	D;D	0.84730	-1.89;-1.89	5.31	5.31	0.75309	Carboxylesterase, type B (1);	0.055507	0.85682	D	0.000000	D	0.95733	0.8612	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97548	1.0090	10	0.87932	D	0	.	17.5643	0.87914	0.0:0.0:1.0:0.0	.	193	P19835	CEL_HUMAN	L	196;193;196	ENSP00000361151:W196L;ENSP00000342217:W193L	ENSP00000304021:W196L	W	+	2	0	CEL	134931777	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.317000	0.96327	2.479000	0.83701	0.561000	0.74099	TGG	.		0.642	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1		
CACNA1B	774	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	140943670	140943670	+	Silent	SNP	T	T	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr9:140943670T>C	ENST00000371372.1	+	24	3758	c.3613T>C	c.(3613-3615)Ttg>Ctg	p.L1205L	CACNA1B_ENST00000371355.4_Silent_p.L1206L|CACNA1B_ENST00000277549.5_Silent_p.L397L|CACNA1B_ENST00000545473.1_3'UTR|CACNA1B_ENST00000277551.2_Silent_p.L1205L|CACNA1B_ENST00000371363.1_Silent_p.L1205L|CACNA1B_ENST00000371357.1_Silent_p.L1206L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1205					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GATGATCGACTTGGGACTGCT	0.527																																					p.L1205L		.											.	CACNA1B-138	0			c.T3613C						.						177.0	173.0	174.0					9																	140943670		2047	4198	6245	SO:0001819	synonymous_variant	774	exon24			ATCGACTTGGGAC	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3613T>C	9.37:g.140943670T>C		Somatic	89	0		WXS	Illumina HiSeq	Phase_I	88	38	NM_001243812	0	0	0	0	0	B1AQK5	Silent	SNP	ENST00000371372.1	37	CCDS59522.1																																																																																			.		0.527	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
CASK	8573	hgsc.bcm.edu	37	X	41448782	41448782	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chrX:41448782G>C	ENST00000378163.1	-	13	1693	c.1219C>G	c.(1219-1221)Cag>Gag	p.Q407E	CASK_ENST00000421587.2_Missense_Mutation_p.Q401E|CASK_ENST00000378158.1_Missense_Mutation_p.Q407E|CASK_ENST00000378154.1_Missense_Mutation_p.Q407E|CASK_ENST00000442742.2_Missense_Mutation_p.Q407E|CASK_ENST00000361962.4_Missense_Mutation_p.Q407E|CASK_ENST00000378166.4_Missense_Mutation_p.Q407E|CASK_ENST00000318588.9_Missense_Mutation_p.Q407E			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	407	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TTGGCTCTCTGTACTGCATCG	0.363																																					p.Q407E	NSCLC(42;104 1086 3090 27189 35040)	.											.	CASK-616	0			c.C1219G						.						159.0	135.0	143.0					X																	41448782		2203	4300	6503	SO:0001583	missense	8573	exon13			CTCTCTGTACTGC	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1219C>G	X.37:g.41448782G>C	ENSP00000367405:p.Gln407Glu	Somatic	23	0		WXS	Illumina HiSeq	Phase_I	36	2	NM_001126054	0	0	25	25	0	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	ENST00000378163.1	37		.	.	.	.	.	.	.	.	.	.	G	11.87	1.769092	0.31320	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	T;T;T;T;T;T;T;T;T	0.67523	-0.25;-0.26;-0.27;-0.26;3.44;-0.26;-0.26;-0.25;-0.26	5.61	5.61	0.85477	L27, C-terminal (1);L27 (2);	0.000000	0.49305	D	0.000146	T	0.60025	0.2237	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.29805	0.009;0.257;0.02;0.097	B;B;B;B	0.40782	0.008;0.34;0.012;0.028	T	0.55042	-0.8202	10	0.15499	T	0.54	.	18.2422	0.89971	0.0:0.0:1.0:0.0	.	401;407;407;407	O14936-3;O14936-4;O14936-2;O14936	.;.;.;CSKP_HUMAN	E	401;407;407;407;22;407;407;407;407	ENSP00000400526:Q401E;ENSP00000322727:Q407E;ENSP00000354641:Q407E;ENSP00000367405:Q407E;ENSP00000367421:Q22E;ENSP00000367400:Q407E;ENSP00000367408:Q407E;ENSP00000398007:Q407E;ENSP00000367396:Q407E	ENSP00000322727:Q407E	Q	-	1	0	CASK	41333726	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.200000	0.95010	2.346000	0.79739	0.415000	0.27848	CAG	.		0.363	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688	
MAGT1	84061	ucsc.edu;bcgsc.ca	37	X	77150838	77150838	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chrX:77150838C>A	ENST00000373336.3	-	1	99	c.70G>T	c.(70-72)Gtt>Ttt	p.V24F	MAGT1_ENST00000358075.6_Missense_Mutation_p.V56F			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	24					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GCTGAGGGAACGTCGCAAACG	0.552																																					p.V56F													.	MAGT1-63	0			c.G166T						.						133.0	91.0	105.0					X																	77150838		2203	4296	6499	SO:0001583	missense	84061	exon1			AGGGAACGTCGCA		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.70G>T	X.37:g.77150838C>A	ENSP00000362433:p.Val24Phe	Somatic	30	0		WXS	Illumina HiSeq		32	5	NM_032121	0	0	34	34	0	B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000373336.3	37		.	.	.	.	.	.	.	.	.	.	C	6.758	0.508646	0.12883	.	.	ENSG00000102158	ENST00000358075;ENST00000373336	T;T	0.48201	0.82;0.84	4.41	3.47	0.39725	.	0.429903	0.21885	N	0.067680	T	0.24122	0.0584	N	0.04508	-0.205	0.09310	N	1	B;B	0.14805	0.001;0.011	B;B	0.12156	0.003;0.007	T	0.12811	-1.0533	10	0.36615	T	0.2	-16.1902	10.134	0.42695	0.1987:0.8013:0.0:0.0	.	24;56	Q9H0U3;B4DH58	MAGT1_HUMAN;.	F	56;24	ENSP00000354649:V56F;ENSP00000362433:V24F	ENSP00000354649:V56F	V	-	1	0	MAGT1	77037494	0.559000	0.26562	0.837000	0.33122	0.237000	0.25408	0.684000	0.25364	2.165000	0.68154	0.544000	0.68410	GTT	.		0.552	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000057302.2	NM_032121	
VPS9D1	9605	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	89775318	89775318	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr16:89775318delG	ENST00000389386.3	-	13	1768	c.1644delC	c.(1642-1644)cccfs	p.P548fs	VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1_ENST00000565452.1_5'Flank|VPS9D1_ENST00000561976.1_Frame_Shift_Del_p.P478fs	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	548	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										CCTCTGGGGTGGGGCAGTAGT	0.682																																					p.P548fs		.											.	.	0			c.1644delC						.						13.0	16.0	15.0					16																	89775318		1928	4125	6053	SO:0001589	frameshift_variant	9605	exon13			.	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1644delC	16.37:g.89775318delG	ENSP00000374037:p.Pro548fs	Somatic	27	0		WXS	Illumina HiSeq	Phase_I	29	12	NM_004913	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000389386.3	37	CCDS42220.1																																																																																			.		0.682	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913	
FAM20A	54757	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	66538845	66538846	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:66538845_66538846delAA	ENST00000592554.1	-	6	1639_1640	c.917_918delTT	c.(916-918)tttfs	p.F306fs	AC079210.1_ENST00000600820.1_5'Flank|FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	306					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CTGGAGAGACAAAGAAAACACT	0.525																																					p.306_306del		.											.	FAM20A-90	0			c.917_918del						.																																			SO:0001589	frameshift_variant	54757	exon6			.	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.917_918delTT	17.37:g.66538845_66538846delAA	ENSP00000468308:p.Phe306fs	Somatic	102	0		WXS	Illumina HiSeq	Phase_I	131	30	NM_017565	0	0	0	0	0	B2RN47|B2RN49|Q9UF95	Frame_Shift_Del	DEL	ENST00000592554.1	37	CCDS11679.1																																																																																			.		0.525	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565	
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	AGC	AGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998				.													.	SYN2-24	0			.						.																																					6854	.			CCAGCAAGCGCCG		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC		Somatic	13	0		WXS	Illumina HiSeq	Phase_I	9	3	.	0	0	0	0	0	A8MY98	In_Frame_Del	DEL	ENST00000432424.2	37																																																																																				.		0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625	
FRYL	285527	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	48598002	48598003	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr4:48598002_48598003delTT	ENST00000503238.1	-	11	1049_1050	c.1050_1051delAA	c.(1048-1053)aaaatgfs	p.KM350fs	FRYL_ENST00000506685.1_Frame_Shift_Del_p.KM56fs|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Frame_Shift_Del_p.KM350fs|FRYL_ENST00000507711.1_Frame_Shift_Del_p.KM350fs|FRYL_ENST00000358350.4_Frame_Shift_Del_p.KM350fs			O94915	FRYL_HUMAN	FRY-like	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACTCGAGACATTTTCGGATCTT	0.302																																					p.350_351del		.											.	FRYL-69	0			c.1050_1051del						.																																			SO:0001589	frameshift_variant	285527	exon14			.	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1050_1051delAA	4.37:g.48598004_48598005delTT	ENSP00000426064:p.Lys350fs	Somatic	54	0		WXS	Illumina HiSeq	Phase_I	64	18	NM_015030	0	0	0	0	0	O95640|Q8WTZ5|Q9NT40	Frame_Shift_Del	DEL	ENST00000503238.1	37	CCDS43227.1																																																																																			.		0.302	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		
NME5	8382	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	137474383	137474383	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr5:137474383delC	ENST00000265191.2	-	2	136	c.87delG	c.(85-87)gagfs	p.E29fs		NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	29					cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TATCTTGTATCTCCTCCTCTT	0.368																																					p.E29fs		.											.	NME5-115	0			c.87delG						.						140.0	128.0	132.0					5																	137474383		2203	4300	6503	SO:0001589	frameshift_variant	8382	exon2			.	Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"""radial spoke 23 homolog (Chlamydomonas)"""	603575	"""non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"""			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.87delG	5.37:g.137474383delC	ENSP00000265191:p.Glu29fs	Somatic	64	0		WXS	Illumina HiSeq	Phase_I	63	32	NM_003551	0	0	0	0	0	B2R5G7	Frame_Shift_Del	DEL	ENST00000265191.2	37	CCDS4197.1																																																																																			.		0.368	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251286.1	NM_003551	
NME5	8382	hgsc.bcm.edu	37	5	137474383	137474386	+	Frame_Shift_Del	DEL	CTCC	CTCC	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	CTCC	CTCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr5:137474383_137474386delCTCC	ENST00000265191.2	-	2	133_136	c.84_87delGGAG	c.(82-87)gaggagfs	p.EE28fs		NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	28					cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TATCTTGTATCTCCTCCTCTTTGT	0.373																																					p.28_29del		.											.	NME5-115	0			c.84_87del						.																																			SO:0001589	frameshift_variant	8382	exon2			.	Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"""radial spoke 23 homolog (Chlamydomonas)"""	603575	"""non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"""			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.84_87delGGAG	5.37:g.137474383_137474386delCTCC	ENSP00000265191:p.Glu28fs	Somatic	65	0		WXS	Illumina HiSeq	Phase_I	70	25	NM_003551	0	0	0	0	0	B2R5G7	Frame_Shift_Del	DEL	ENST00000265191.2	37	CCDS4197.1																																																																																			.		0.373	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251286.1	NM_003551	
LCN12	286256	broad.mit.edu	37	9	139846817	139846819	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	TGC	TGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr9:139846817_139846819delTGC	ENST00000371633.3	+	1	38_40	c.38_40delTGC	c.(37-42)ttgctg>ttg	p.13_14LL>L		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	13					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGGCTCTCCTTGCTGAAAGTCCT	0.626																																					p.13_14del													.	LCN12-90	0			c.38_40del						.																																			SO:0001651	inframe_deletion	286256	exon1			TCTCCTTGCTGAA	BC041168	CCDS7018.2	9q34	2011-10-24	2007-12-18		ENSG00000184925	ENSG00000184925		"""Lipocalins"""	28733	protein-coding gene	gene with protein product		612905				15363845	Standard	XM_005266068		Approved	MGC48935	uc004ckb.3	Q6JVE5	OTTHUMG00000020968	ENST00000371633.3:c.38_40delTGC	9.37:g.139846817_139846819delTGC	ENSP00000360696:p.Leu14del	Somatic	28	0		WXS	Illumina HiSeq	Phase_I	25	7	NM_178536	0	0	0	0	0	A2AMJ7	In_Frame_Del	DEL	ENST00000371633.3	37	CCDS7018.2																																																																																			.		0.626	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257990.1	NM_178536	
SMARCB1	6598	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	22	24175838	24175839	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr22:24175838_24175839insT	ENST00000263121.7	+	8	1262_1263	c.1066_1067insT	c.(1066-1068)ctgfs	p.L356fs	SMARCB1_ENST00000407082.3_Frame_Shift_Ins_p.L310fs|SMARCB1_ENST00000407422.3_Frame_Shift_Ins_p.L347fs|SMARCB1_ENST00000344921.6_Frame_Shift_Ins_p.L365fs|DERL3_ENST00000464023.1_5'Flank	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	356					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GCTGGAGACTCTGACAGACGCT	0.629			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																															p.L356fs		.	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""		M	.	SMARCB1-2699	3	Unknown(2)|Deletion - In frame(1)	central_nervous_system(3)	c.1066_1067insT						.																																			SO:0001589	frameshift_variant	6598	exon8			.	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.1067dupT	22.37:g.24175839_24175839dupT	ENSP00000263121:p.Leu356fs	Somatic	149	0		WXS	Illumina HiSeq	Phase_I	111	91	NM_003073	0	0	0	0	0	O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Frame_Shift_Ins	INS	ENST00000263121.7	37	CCDS13817.1																																																																																			.		0.629	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073	
BNC2	54796	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	16552614	16552615	+	In_Frame_Ins	INS	-	-	GAA			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr9:16552614_16552615insGAA	ENST00000380672.4	-	5	639_640	c.582_583insTTC	c.(580-585)ttcagc>ttcTTCagc	p.194_195insF	BNC2_ENST00000545497.1_In_Frame_Ins_p.99_100insF|BNC2_ENST00000380667.2_In_Frame_Ins_p.127_128insF|BNC2_ENST00000380666.2_In_Frame_Ins_p.194_195insF	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTCAGGACGCTGAAGAGACGGT	0.55																																					p.S195delinsFS		.											.	BNC2-92	0			c.583_584insTTC						.																																			SO:0001652	inframe_insertion	54796	exon5			.	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.580_582dupTTC	9.37:g.16552615_16552617dupGAA	ENSP00000370047:p.Phe194_Phe194dup	Somatic	90	0		WXS	Illumina HiSeq	Phase_I	77	17	NM_017637	0	0	0	0	0		In_Frame_Ins	INS	ENST00000380672.4	37	CCDS6482.2																																																																																			.		0.550	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
NME5	8382	hgsc.bcm.edu	37	5	137474385	137474386	+	Nonsense_Mutation	DNP	CC	CC	AG			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr5:137474385_137474386CC>AG	ENST00000265191.2	-	2	133_134	c.84_85GG>CT	c.(82-87)gaGGag>gaCTag	p.28_29EE>D*		NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	28					cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCTTGTATCTCCTCCTCTTTGT	0.371																																					p.EE28D*		.											.	NME5	0			c.G84C						.																																			SO:0001587	stop_gained	8382	exon2			TATCTCCTCCTCT	Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"""radial spoke 23 homolog (Chlamydomonas)"""	603575	"""non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"""			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.84_85delinsAG	5.37:g.137474385_137474386delinsAG	ENSP00000265191:p.E28_E29delinsD*	Somatic	67.0	0.0		WXS	Illumina HiSeq	Phase_I	66.0	33.0		0	0	0	0	0	B2R5G7	Nonsense_Mutation	DNP	ENST00000265191.2	37	CCDS4197.1																																																																																			.		0.371	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251286.1	NM_003551	
GTF3C5	9328	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	135917679	135917680	+	Missense_Mutation	DNP	TT	TT	AA			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr9:135917679_135917680TT>AA	ENST00000372097.5	+	2	682_683	c.359_360TT>AA	c.(358-360)aTT>aAA	p.I120K	GTF3C5_ENST00000372108.5_Missense_Mutation_p.I120K|GTF3C5_ENST00000485692.1_Intron|GTF3C5_ENST00000372099.6_Missense_Mutation_p.I111K|GTF3C5_ENST00000372095.5_Intron|GTF3C5_ENST00000342018.8_Missense_Mutation_p.I120K	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	120					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		ATCTCCACCATTTACAAATTTC	0.535																																					p.I120K		.											.	GTF3C5	0			c.T360A						.																																			SO:0001583	missense	9328	exon2			CACCATTTACAAA	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	Exception_encountered	9.37:g.135917679_135917680delinsAA	ENSP00000361169:p.Ile120Lys	Somatic	119.0	0.0		WXS	Illumina HiSeq	Phase_I	94.0	35.0		0	0	0	0	0	A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	DNP	ENST00000372097.5	37	CCDS6958.1																																																																																			.		0.535	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823	
TMEM199	147007	broad.mit.edu	37	17	26684350	26684351	+	5'Flank	DNP	GC	GC	AT			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:26684350_26684351GC>AT	ENST00000292114.3	+	0	0				POLDIP2_ENST00000540200.1_Missense_Mutation_p.A41M|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_5'Flank|POLDIP2_ENST00000003607.4_5'UTR|TMEM199_ENST00000395404.3_5'Flank	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CGTGGTCGACGCTGGCGAGAAG	0.738																																					.													.	.	0			.						.																																			SO:0001631	upstream_gene_variant	26073	.			TCGACGCTGGCGA	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	Exception_encountered	17.37:g.26684350_26684351delinsAT	Exception_encountered	Somatic	9	0		WXS	Illumina HiSeq	Phase_I	31	18	.	0	0	0	0	0		Missense_Mutation	DNP	ENST00000292114.3	37	CCDS11228.1																																																																																			.		0.738	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464	
