#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	i_Trna_alt1	i_Trna_alt2	i_Trna_ref	i_Trna_tot	i_Trna_var	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
AK2	204	bcgsc.ca	37	1	33478983	33478983	+	Silent	SNP	G	G	A	rs79403800		TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr1:33478983G>A	ENST00000373449.2	-	6	560	c.519C>T	c.(517-519)atC>atT	p.I173I	RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000467905.1_Silent_p.I173I|AK2_ENST00000480134.1_3'UTR|AK2_ENST00000354858.6_Silent_p.I173I|AK2_ENST00000548033.1_Silent_p.I131I|AK2_ENST00000491241.1_5'Flank	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1			adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CTGATCGACGGATCAAGGGTT	0.483																																					p.I173I		.											.	AK2-252	0			c.C519T						.						58.0	55.0	56.0					1																	33478983		2203	4300	6503	SO:0001819	synonymous_variant	204	exon6			TCGACGGATCAAG	U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"""Adenylate kinases"""	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000373449.2:c.519C>T	1.37:g.33478983G>A		78	2		84	9	NM_013411	0	0	172	172	0		Silent	SNP	ENST00000373449.2	37	CCDS373.1																																																																																			G|0.500;A|0.500		0.483	AK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011884.1	NM_001625	
BMP8A	353500	hgsc.bcm.edu	37	1	39957913	39957913	+	Missense_Mutation	SNP	A	A	G	rs4660269	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr1:39957913A>G	ENST00000331593.5	+	1	596	c.250A>G	c.(250-252)Atg>Gtg	p.M84V		NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	84			M -> V (in dbSNP:rs4660269).		cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTACCACGCCATGGCTGGCGA	0.771													A|||	3367	0.672324	0.2897	0.8069	5008	,	,		8040	0.6825		0.8887	False		,,,				2504	0.8609				p.M84V		.											.	BMP8A-90	0			c.A250G						.	A	VAL/MET	1486,1350		387,712,319	7.0	9.0	8.0		250	3.3	1.0	1	dbSNP_111	8	5431,485		2501,429,28	no	missense	BMP8A	NM_181809.3	21	2888,1141,347	GG,GA,AA		8.1981,47.6023,20.9666	benign	84/403	39957913	6917,1835	1418	2958	4376	SO:0001583	missense	353500	exon1			CACGCCATGGCTG	AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.250A>G	1.37:g.39957913A>G	ENSP00000327440:p.Met84Val	0	0		7	7	NM_181809	0	0	0	0	0	Q5T3A5	Missense_Mutation	SNP	ENST00000331593.5	37	CCDS437.1	1496	0.684981684981685	135	0.27439024390243905	297	0.8204419889502762	384	0.6713286713286714	680	0.8970976253298153	a	12.21	1.871113	0.33069	0.523977	0.918019	ENSG00000183682	ENST00000331593	T	0.64438	-0.1	3.32	3.32	0.38043	Transforming growth factor-beta, N-terminal (1);	0.094831	0.64402	U	0.000001	T	0.00012	0.0000	L	0.36672	1.1	0.25817	P	0.984325	B	0.13594	0.008	B	0.18263	0.021	T	0.28996	-1.0026	8	.	.	.	.	7.876	0.29595	0.8917:0.0:0.1083:0.0	rs4660269	84	Q7Z5Y6	BMP8A_HUMAN	V	84	ENSP00000327440:M84V	.	M	+	1	0	BMP8A	39730500	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	2.578000	0.46051	1.285000	0.44548	0.254000	0.18369	ATG	A|0.302;G|0.698		0.771	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023079.1	NM_181809	
NT5C1A	84618	broad.mit.edu	37	1	40126766	40126766	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr1:40126766G>T	ENST00000235628.1	-	5	725	c.726C>A	c.(724-726)aaC>aaA	p.N242K		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	242					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCAGAGGTTTGTTCTCGTGGG	0.627																																					p.N242K		.											.	NT5C1A-91	0			c.C726A						.						107.0	106.0	106.0					1																	40126766		2203	4300	6503	SO:0001583	missense	84618	exon5			AGGTTTGTTCTCG	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.726C>A	1.37:g.40126766G>T	ENSP00000235628:p.Asn242Lys	100	0		113	5	NM_032526	0	0	0	0	0	Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	CCDS440.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507476	0.44558	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.19	3.32	0.38043	.	0.041945	0.85682	D	0.000000	T	0.58566	0.2131	L	0.48642	1.525	0.58432	D	0.999999	P	0.45768	0.866	P	0.51453	0.67	T	0.52917	-0.8511	9	0.29301	T	0.29	-3.8563	12.0033	0.53243	0.1414:0.0:0.8586:0.0	.	242	Q9BXI3	5NT1A_HUMAN	K	242	.	ENSP00000235628:N242K	N	-	3	2	NT5C1A	39899353	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.910000	0.63321	0.702000	0.31825	0.650000	0.86243	AAC	.		0.627	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526	
TCTEX1D4	343521	hgsc.bcm.edu	37	1	45271828	45271828	+	Silent	SNP	T	T	C	rs17885815	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr1:45271828T>C	ENST00000339355.2	-	1	519	c.513A>G	c.(511-513)gtA>gtG	p.V171V	BTBD19_ENST00000450269.1_5'Flank|BTBD19_ENST00000409335.2_5'Flank|BTBD19_ENST00000453418.1_5'Flank|TCTEX1D4_ENST00000372200.1_Silent_p.V171V			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	171						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					CCACACTGCATACCAGCTTGT	0.716													C|||	682	0.136182	0.0764	0.1427	5008	,	,		11465	0.1647		0.1759	False		,,,				2504	0.1421				p.V171V		.											.	TCTEX1D4-91	0			c.A513G						.	C		415,3851		26,363,1744	6.0	9.0	8.0		513	5.5	1.0	1	dbSNP_124	8	1263,7055		105,1053,3001	no	coding-synonymous	TCTEX1D4	NM_001013632.2		131,1416,4745	CC,CT,TT		15.1839,9.7281,13.3344		171/222	45271828	1678,10906	2133	4159	6292	SO:0001819	synonymous_variant	343521	exon2			ACTGCATACCAGC	BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"""novel Tctex-1 family domain-containing protein"""	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.513A>G	1.37:g.45271828T>C		0	0		15	12	NM_001013632	0	0	0	2	2		Silent	SNP	ENST00000339355.2	37	CCDS30699.1																																																																																			T|0.859;C|0.141		0.716	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023733.1	NM_001013632	
RSBN1	54665	hgsc.bcm.edu	37	1	114354654	114354654	+	Silent	SNP	T	T	C	rs3195954	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr1:114354654T>C	ENST00000261441.5	-	1	444	c.381A>G	c.(379-381)ccA>ccG	p.P127P	RP5-1073O3.2_ENST00000429398.1_RNA|RP5-1073O3.2_ENST00000418238.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	127	Pro-rich.					nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCATTCGTTGGCGGCAGCG	0.746													T|||	610	0.121805	0.0045	0.1311	5008	,	,		11529	0.2282		0.1869	False		,,,				2504	0.0971				p.P127P		.											.	RSBN1-91	0			c.A381G						.	T		149,4053		2,145,1954	13.0	24.0	21.0		381	-4.9	0.5	1	dbSNP_105	21	1412,6854		115,1182,2836	no	coding-synonymous	RSBN1	NM_018364.3		117,1327,4790	CC,CT,TT		17.082,3.5459,12.5201		127/803	114354654	1561,10907	2101	4133	6234	SO:0001819	synonymous_variant	54665	exon1			ATTCGTTGGCGGC	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.381A>G	1.37:g.114354654T>C		5	0		18	16	NM_018364	0	0	0	2	2	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	CCDS862.1																																																																																			T|0.861;C|0.139		0.746	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364	
ZBTB37	84614	broad.mit.edu;bcgsc.ca	37	1	173855208	173855208	+	Silent	SNP	A	A	G	rs16846520	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr1:173855208A>G	ENST00000367701.5	+	4	1649	c.1458A>G	c.(1456-1458)acA>acG	p.T486T	ZBTB37_ENST00000367704.1_3'UTR|ZBTB37_ENST00000427304.1_Silent_p.T486T			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	486					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)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						AGGAAGAGACAGTTGCTCCTG	0.577													A|||	475	0.0948482	0.0083	0.121	5008	,	,		19240	0.0605		0.1511	False		,,,				2504	0.1708				p.T486T		.											.	ZBTB37-90	0			c.A1458G						.	A		38,1346		0,38,654	17.0	16.0	16.0		1458	-0.5	0.3	1	dbSNP_123	16	426,2756		29,368,1194	no	coding-synonymous	ZBTB37	NM_001122770.1		29,406,1848	GG,GA,AA		13.3878,2.7457,10.1621		486/504	173855208	464,4102	692	1591	2283	SO:0001819	synonymous_variant	84614	exon5			AGAGACAGTTGCT	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.1458A>G	1.37:g.173855208A>G		116	1		107	5	NM_001122770	0	0	0	0	0	Q5TC80|Q96M87|Q9BQ88	Silent	SNP	ENST00000367701.5	37	CCDS44278.1																																																																																			A|0.908;G|0.092		0.577	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522	
TOR3A	64222	hgsc.bcm.edu	37	1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	rs2296377	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2.0	3.0	3.0		37	-0.8	0.0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	0	0		10	10	NM_022371	0	0	0	0	0	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371	
C1orf106	55765	hgsc.bcm.edu	37	1	200880978	200880978	+	Missense_Mutation	SNP	C	C	T	rs296520	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr1:200880978C>T	ENST00000367342.4	+	9	1812	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	C1orf106_ENST00000413687.2_Missense_Mutation_p.R453C	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	538			R -> C (in dbSNP:rs296520). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GTGGGAGCTGCGCCGCGCAGC	0.736													T|||	3966	0.791933	0.6089	0.8213	5008	,	,		12017	0.997		0.7256	False		,,,				2504	0.8753				p.R552C		.											.	C1orf106-93	0			c.C1654T						.	T	CYS/ARG,CYS/ARG	2547,1503		890,767,368	5.0	7.0	6.0		1357,1612	0.8	0.0	1	dbSNP_79	6	5587,2355		2124,1339,508	no	missense,missense	C1orf106	NM_001142569.2,NM_018265.3	180,180	3014,2106,876	TT,TC,CC		29.6525,37.1111,32.1714	benign,benign	453/579,538/664	200880978	8134,3858	2025	3971	5996	SO:0001583	missense	55765	exon9			GAGCTGCGCCGCG	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1612C>T	1.37:g.200880978C>T	ENSP00000356311:p.Arg538Cys	0	0		25	25	NM_018265	0	0	0	0	0	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37		1677	0.7678571428571429	261	0.5304878048780488	285	0.787292817679558	569	0.9947552447552448	562	0.741424802110818	T	0.366	-0.936884	0.02340	0.628889	0.703475	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.28454	1.61;1.61	3.39	0.759	0.18438	.	0.912041	0.09365	N	0.812206	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	9	0.29301	T	0.29	-23.0614	3.796	0.08740	0.0:0.2241:0.1856:0.5903	rs296520;rs7519373;rs56757010	538	Q3KP66	CA106_HUMAN	C	538;453	ENSP00000356311:R538C;ENSP00000392105:R453C	ENSP00000356311:R538C	R	+	1	0	C1orf106	199147601	0.004000	0.15560	0.002000	0.10522	0.007000	0.05969	-0.731000	0.04909	-0.124000	0.11724	-0.381000	0.06696	CGC	C|0.242;T|0.758		0.736	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265	
LEMD1	93273	broad.mit.edu	37	1	205350973	205350973	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr1:205350973C>A	ENST00000367153.4	-	6	461	c.359G>T	c.(358-360)aGa>aTa	p.R120I	LEMD1_ENST00000391936.2_Nonsense_Mutation_p.E73*|LEMD1_ENST00000367151.2_Missense_Mutation_p.R79I|LEMD1_ENST00000367154.1_Nonsense_Mutation_p.E73*|LEMD1_ENST00000367152.1_Missense_Mutation_p.R79I|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367149.3_Nonsense_Mutation_p.E32*|LEMD1-AS1_ENST00000447832.1_RNA	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	120						integral component of membrane (GO:0016021)				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			GCTTGGTGCTCTTGCAGCCCA	0.512																																					p.E73X		.											.	LEMD1-90	0			c.G217T						.						200.0	176.0	184.0					1																	205350973		2203	4300	6503	SO:0001583	missense	93273	exon4			GGTGCTCTTGCAG		CCDS30986.1, CCDS55677.1, CCDS55678.1, CCDS55679.1	1q32.1	2009-03-25			ENSG00000186007	ENSG00000186007			18725	protein-coding gene	gene with protein product	"""cancer/testis antigen 50"""	610480				15254688	Standard	NM_001199050		Approved	LEMP-1, CT50	uc001hcj.2	Q68G75	OTTHUMG00000037201	ENST00000367153.4:c.359G>T	1.37:g.205350973C>A	ENSP00000356121:p.Arg120Ile	105	0		79	3	NM_001001552	0	0	0	0	0	Q6L9T9|Q6L9U0|Q6L9U1|Q6L9U2|Q6L9U3|Q6L9U4	Nonsense_Mutation	SNP	ENST00000367153.4	37	CCDS55679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.83|13.83	2.355671|2.355671	0.41700|0.41700	.|.	.|.	ENSG00000186007|ENSG00000186007	ENST00000367154;ENST00000391936;ENST00000367149|ENST00000367152;ENST00000367153;ENST00000367151	.|T;T;T	.|0.66280	.|-0.2;-0.19;-0.2	4.15|4.15	2.23|2.23	0.28157|0.28157	.|.	.|0.220627	.|0.30676	.|N	.|0.009119	.|T	.|0.70971	.|0.3285	.|.	.|.	.|.	0.41630|0.41630	D|D	0.989011|0.989011	.|P;D	.|0.71674	.|0.921;0.998	.|P;P	.|0.61800	.|0.667;0.894	.|T	.|0.70999	.|-0.4719	.|9	0.25751|0.87932	T|D	0.34|0	-16.8947|-16.8947	6.3423|6.3423	0.21330|0.21330	0.0:0.7177:0.1814:0.101|0.0:0.7177:0.1814:0.101	.|.	.|79;120	.|Q68G75-3;Q68G75	.|.;LEMD1_HUMAN	X|I	73;73;32|79;120;79	.|ENSP00000356120:R79I;ENSP00000356121:R120I;ENSP00000356119:R79I	ENSP00000356117:E32X|ENSP00000356119:R79I	E|R	-|-	1|2	0|0	LEMD1|LEMD1	203617596|203617596	0.021000|0.021000	0.18746|0.18746	0.001000|0.001000	0.08648|0.08648	0.011000|0.011000	0.07611|0.07611	0.882000|0.882000	0.28186|0.28186	0.668000|0.668000	0.31126|0.31126	-0.212000|-0.212000	0.12691|0.12691	GAG|AGA	.		0.512	LEMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090401.1	NM_001001552	
IL24	11009	broad.mit.edu	37	1	207073701	207073701	+	Splice_Site	SNP	C	C	T	rs142816743	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr1:207073701C>T	ENST00000294984.2	+	4	576	c.302C>T	c.(301-303)tCg>tTg	p.S101L	IL24_ENST00000391929.3_Splice_Site_p.S102L|IL24_ENST00000367093.3_Splice_Site_p.S102L|IL24_ENST00000491169.1_3'UTR	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	101					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					CAGAACGTCTCGGTAATCAGA	0.557													C|||	6	0.00119808	0.0015	0.0014	5008	,	,		19538	0.0		0.003	False		,,,				2504	0.0				p.S102L		.											.	IL24-90	0			c.C305T						.	C	LEU/SER,LEU/SER,CYS/ARG,LEU/SER	10,4396	16.8+/-37.8	0,10,2193	60.0	57.0	58.0		305,305,106,302	3.4	1.0	1	dbSNP_134	58	18,8582	14.0+/-48.4	0,18,4282	yes	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	IL24	NM_001185156.1,NM_001185157.1,NM_001185158.1,NM_006850.3	145,145,180,145	0,28,6475	TT,TC,CC		0.2093,0.227,0.2153	probably-damaging,probably-damaging,probably-damaging,probably-damaging	102/208,102/155,36/64,101/207	207073701	28,12978	2203	4300	6503	SO:0001630	splice_region_variant	11009	exon4			ACGTCTCGGTAAT	U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"""Interleukins and interleukin receptors"""	11346	protein-coding gene	gene with protein product	"""melanoma differentiation association protein 7"", ""suppression of tumorigenicity 16 (melanoma differentiation)"", ""IL-4-induced secreted protein"""	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.303+1C>T	1.37:g.207073701C>T		111	0		82	3	NM_001185156	0	0	0	0	0	Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Missense_Mutation	SNP	ENST00000294984.2	37	CCDS1471.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	11.89|11.89	1.774086|1.774086	0.31411|0.31411	0.00227|0.00227	0.002093|0.002093	ENSG00000162892|ENSG00000162892	ENST00000480741|ENST00000391929;ENST00000294984;ENST00000367093	.|T;T;T	.|0.17213	.|2.29;2.29;2.29	4.3|4.3	3.39|3.39	0.38822|0.38822	.|Interleukin-10, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.|0.524360	.|0.19619	.|N	.|0.109942	T|T	0.33118|0.33118	0.0852|0.0852	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999985|0.999985	.|D;D;D	.|0.69078	.|0.975;0.997;0.997	.|P;P;P	.|0.61275	.|0.603;0.886;0.886	T|T	0.04650|0.04650	-1.0936|-1.0936	5|9	0.87932|0.62326	D|D	0|0.03	.|.	7.7465|7.7465	0.28873|0.28873	0.0:0.8867:0.0:0.1133|0.0:0.8867:0.0:0.1133	.|.	.|102;102;101	.|Q2YHE5;Q53XZ7;Q13007	.|.;.;IL24_HUMAN	C|L	36|102;101;102	.|ENSP00000375795:S102L;ENSP00000294984:S101L;ENSP00000356060:S102L	ENSP00000418933:R36C|ENSP00000294984:S101L	R|S	+|+	1|2	0|0	IL24|IL24	205140324|205140324	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.167000|0.167000	0.22549|0.22549	1.668000|1.668000	0.37481|0.37481	1.032000|1.032000	0.39892|0.39892	0.561000|0.561000	0.74099|0.74099	CGC|TCG	C|0.998;T|0.002		0.557	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2	NM_006850	Missense_Mutation
CR1	1378	bcgsc.ca	37	1	207760773	207760773	+	Missense_Mutation	SNP	C	C	T	rs3737002	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr1:207760773C>T	ENST00000367049.4	+	34	5573	c.5573C>T	c.(5572-5574)aCg>aTg	p.T1858M	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.T1408M|CR1_ENST00000367052.1_Missense_Mutation_p.T1408M|CR1_ENST00000367053.1_Missense_Mutation_p.T1408M|CR1_ENST00000367051.1_Missense_Mutation_p.T1408M|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1408	Sushi 29. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCAGTCCTACGATCCCAATT	0.443													C|||	1246	0.248802	0.0446	0.379	5008	,	,		20146	0.3264		0.2873	False		,,,				2504	0.3129				p.T1858M		.											.	CR1-93	0			c.C5573T						.	C	MET/THR,MET/THR	272,3364		11,250,1557	144.0	126.0	132.0		4223,5573	-0.1	0.0	1	dbSNP_107	132	2253,5915		327,1599,2158	yes	missense,missense	CR1	NM_000573.3,NM_000651.4	81,81	338,1849,3715	TT,TC,CC		27.5833,7.4807,21.3911	probably-damaging,probably-damaging	1408/2040,1858/2490	207760773	2525,9279	1818	4084	5902	SO:0001583	missense	1378	exon34			GTCCTACGATCCC	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5573C>T	1.37:g.207760773C>T	ENSP00000356016:p.Thr1858Met	111	1		111	5	NM_000651	0	0	0	0	0	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	581	0.266025641025641	34	0.06910569105691057	118	0.3259668508287293	225	0.39335664335664333	204	0.2691292875989446	C	4.828	0.153959	0.09185	0.074807	0.275833	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	3.11	-0.0816	0.13701	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.00012	0.0000	L	0.53249	1.67	0.80722	P	0.0	D;D;D	0.89917	0.987;1.0;1.0	P;D;D	0.81914	0.59;0.995;0.958	T	0.20140	-1.0284	8	0.46703	T	0.11	.	5.3246	0.15898	0.0:0.5385:0.0:0.4615	rs3737002;rs59870088;rs3737002	1408;1408;1858	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	M	1408;1408;1408;1408;958;1858	ENSP00000356019:T1408M;ENSP00000356018:T1408M;ENSP00000356020:T1408M;ENSP00000383744:T1408M;ENSP00000436139:T958M;ENSP00000356016:T1858M	ENSP00000356016:T1858M	T	+	2	0	CR1	205827396	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	-0.359000	0.07632	-0.027000	0.13873	-0.345000	0.07892	ACG	C|0.751;N|0.000		0.443	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	
PTPN14	5784	broad.mit.edu	37	1	214558119	214558119	+	Missense_Mutation	SNP	T	T	G	rs112523432	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr1:214558119T>G	ENST00000366956.5	-	13	1273	c.1079A>C	c.(1078-1080)cAt>cCt	p.H360P	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	360			H -> P (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.H360P(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTCATTCCCATGAAAAATGCT	0.433													T|||	16	0.00319489	0.0	0.0086	5008	,	,		18751	0.0		0.0089	False		,,,				2504	0.001				p.H360P	Colon(92;557 1424 24372 34121 40073)	.											.	PTPN14-290	1	Substitution - Missense(1)	breast(1)	c.A1079C						.	T	PRO/HIS	4,4402	8.1+/-20.4	0,4,2199	68.0	67.0	67.0		1079	3.2	0.6	1	dbSNP_132	67	82,8518	46.3+/-105.2	0,82,4218	yes	missense	PTPN14	NM_005401.4	77	0,86,6417	GG,GT,TT		0.9535,0.0908,0.6612	benign	360/1188	214558119	86,12920	2203	4300	6503	SO:0001583	missense	5784	exon13			TTCCCATGAAAAA	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1079A>C	1.37:g.214558119T>G	ENSP00000355923:p.His360Pro	56	0		77	4	NM_005401	0	0	0	0	0	Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	CCDS1514.1	10	0.004578754578754579	0	0.0	4	0.011049723756906077	0	0.0	6	0.0079155672823219	T	8.641	0.896012	0.17686	9.08E-4	0.009535	ENSG00000152104	ENST00000366956	T	0.67698	-0.28	5.6	3.16	0.36331	.	0.049460	0.85682	N	0.000000	T	0.50956	0.1646	L	0.54323	1.7	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48103	-0.9064	10	0.27785	T	0.31	.	12.1244	0.53909	0.0:0.0:0.2821:0.7179	.	360	Q15678	PTN14_HUMAN	P	360	ENSP00000355923:H360P	ENSP00000355923:H360P	H	-	2	0	PTPN14	212624742	0.951000	0.32395	0.630000	0.29268	0.757000	0.42996	1.540000	0.36115	0.357000	0.24183	0.533000	0.62120	CAT	T|0.994;G|0.006		0.433	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401	
OBSCN	84033	hgsc.bcm.edu	37	1	228504670	228504670	+	Missense_Mutation	SNP	C	C	T	rs11810627	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr1:228504670C>T	ENST00000422127.1	+	51	13590	c.13546C>T	c.(13546-13548)Cgg>Tgg	p.R4516W	OBSCN_ENST00000366707.4_Missense_Mutation_p.R2150W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4516W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1635W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5473W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4516	Ig-like 46.		R -> W (in dbSNP:rs11810627).		apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCTCTGCGCGGCTCACCGT	0.736													c|||	1654	0.330272	0.2791	0.4006	5008	,	,		13971	0.249		0.4861	False		,,,				2504	0.273				p.R5473W		.											.	OBSCN-403	0			c.C16417T						.		TRP/ARG,TRP/ARG	923,2833		165,593,1120	5.0	6.0	6.0		13546,13546	-1.0	0.0	1	dbSNP_120	6	3333,4245		861,1611,1317	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	1026,2204,2437	TT,TC,CC		43.9826,24.574,37.5507	probably-damaging,probably-damaging	4516/7969,4516/6621	228504670	4256,7078	1878	3789	5667	SO:0001583	missense	84033	exon62			TCTGCGCGGCTCA	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13546C>T	1.37:g.228504670C>T	ENSP00000409493:p.Arg4516Trp	1	0		47	7	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	774	0.3543956043956044	137	0.2784552845528455	144	0.39779005524861877	134	0.23426573426573427	359	0.4736147757255937	c	11.94	1.787178	0.31593	0.24574	0.439826	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.77098	-1.07;-1.07;0.2;0.2	5.41	-0.971	0.10303	Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.167607	0.36519	N	0.002550	T	0.00012	0.0000	L	0.41824	1.3	0.50632	P	1.1499999999997623E-4	B;B	0.22541	0.071;0.067	B;B	0.12156	0.007;0.007	T	0.42275	-0.9461	9	0.45353	T	0.12	.	10.3619	0.43998	0.6084:0.317:0.0:0.0747	rs11810627	4516;4516	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4516;4516;2150;1635	ENSP00000284548:R4516W;ENSP00000409493:R4516W;ENSP00000355668:R2150W;ENSP00000355670:R1635W	ENSP00000284548:R4516W	R	+	1	2	OBSCN	226571293	0.968000	0.33430	0.013000	0.15412	0.016000	0.09150	2.032000	0.41127	-0.028000	0.13850	0.550000	0.68814	CGG	C|0.643;T|0.357		0.736	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
FMN2	56776	hgsc.bcm.edu	37	1	240256171	240256171	+	Silent	SNP	G	G	A	rs142232913	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr1:240256171G>A	ENST00000319653.9	+	1	992	c.762G>A	c.(760-762)ctG>ctA	p.L254L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	254					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGTTCCTGCTGGGGCCGAGCG	0.776													G|||	32	0.00638978	0.0	0.0058	5008	,	,		10259	0.0		0.0139	False		,,,				2504	0.0143				p.L254L		.											.	FMN2-145	0			c.G762A						.	G		3,3203		0,3,1600	2.0	3.0	2.0		762	2.5	1.0	1	dbSNP_134	2	38,6696		0,38,3329	no	coding-synonymous	FMN2	NM_020066.4		0,41,4929	AA,AG,GG		0.5643,0.0936,0.4125		254/1723	240256171	41,9899	1603	3367	4970	SO:0001819	synonymous_variant	56776	exon1			CCTGCTGGGGCCG	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.762G>A	1.37:g.240256171G>A		1	0		11	10	NM_020066	0	0	0	0	0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																			G|0.994;A|0.006		0.776	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
SKIDA1	387640	broad.mit.edu	37	10	21805484	21805484	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr10:21805484T>A	ENST00000449193.2	-	4	3520	c.1268A>T	c.(1267-1269)gAg>gTg	p.E423V	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Missense_Mutation_p.E344V	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	342						nucleus (GO:0005634)											ctcctcttcctcctcctcctc	0.632																																					p.E423V		.											.	.	0			c.A1268T						.						5.0	6.0	6.0					10																	21805484		1996	4121	6117	SO:0001583	missense	387640	exon4			TCTTCCTCCTCCT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1268A>T	10.37:g.21805484T>A	ENSP00000410041:p.Glu423Val	101	1		85	6	NM_207371	1	0	2	3	0	B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	T	9.607	1.130218	0.21041	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	4.44	4.44	0.53790	.	0.149049	0.42294	D	0.000737	T	0.50871	0.1641	N	0.19112	0.55	0.42114	D	0.991398	D	0.69078	0.997	P	0.57911	0.829	T	0.55860	-0.8074	9	0.59425	D	0.04	-13.3958	11.3017	0.49309	0.0:0.0:0.0:1.0	.	423	E9PAX1	.	V	423;344	.	ENSP00000442432:E344V	E	-	2	0	C10orf140	21845490	1.000000	0.71417	0.990000	0.47175	0.613000	0.37349	3.985000	0.56930	1.870000	0.54199	0.454000	0.30748	GAG	.		0.632	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371	
CSGALNACT2	55454	broad.mit.edu	37	10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	rs79064394		TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr10:43659419G>T	ENST00000374466.3	+	5	1421	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	362					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.L362F(5)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGAGGTCTTGATGTTTTTCT	0.433																																					p.L362F		.											.	CSGALNACT2-69	5	Substitution - Missense(5)	endometrium(4)|kidney(1)	c.G1086T						.						223.0	221.0	222.0					10																	43659419		2203	4300	6503	SO:0001583	missense	55454	exon5			GGTCTTGATGTTT	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1086G>T	10.37:g.43659419G>T	ENSP00000363590:p.Leu362Phe	137	1		117	3	NM_018590	0	0	0	0	0	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499782	0.85176	.	.	ENSG00000169826	ENST00000374466	T	0.27256	1.68	6.08	5.17	0.71159	.	0.064535	0.64402	D	0.000004	T	0.57359	0.2048	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63721	-0.6573	10	0.87932	D	0	-11.7375	14.8306	0.70146	0.0683:0.0:0.9317:0.0	.	362	Q8N6G5	CGAT2_HUMAN	F	362	ENSP00000363590:L362F	ENSP00000363590:L362F	L	+	3	2	CSGALNACT2	42979425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.683000	0.37638	2.894000	0.99253	0.591000	0.81541	TTG	.		0.433	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590	
FAM21C	253725	bcgsc.ca	37	10	46254776	46254776	+	Missense_Mutation	SNP	A	A	C	rs199848673		TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr10:46254776A>C	ENST00000336378.4	+	17	1680	c.1562A>C	c.(1561-1563)tAc>tCc	p.Y521S	FAM21C_ENST00000537517.1_Missense_Mutation_p.Y497S|FAM21C_ENST00000374362.2_Missense_Mutation_p.Y521S|FAM21C_ENST00000359860.4_Missense_Mutation_p.Y465S|FAM21C_ENST00000540872.1_Missense_Mutation_p.Y521S	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	521				Y -> S (in Ref. 1; BAA25518 and 2; BAG64168). {ECO:0000305}.	retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.Y520S(3)|p.Y521S(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ACCTTATCTTACAGCAAAAAT	0.413																																					p.Y521S		.											.	FAM21C-91	5	Substitution - Missense(5)	prostate(4)|skin(1)	c.A1562C						.	C	SER/TYR,SER/TYR,SER/TYR	254,3222		29,196,1513	61.0	73.0	69.0		1562,1490,1562	3.3	0.7	10	dbSNP_134	69	410,7550		58,294,3628	yes	missense,missense,missense	FAM21C	NM_001169106.1,NM_001169107.1,NM_015262.2	144,144,144	87,490,5141	CC,CA,AA		5.1508,7.3072,5.8062	benign,benign,benign	521/1280,497/1246,521/1321	46254776	664,10772	1738	3980	5718	SO:0001583	missense	253725	exon17			TATCTTACAGCAA		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1562A>C	10.37:g.46254776A>C	ENSP00000337541:p.Tyr521Ser	166	4		35	7	NM_015262	0	0	1	13	12	B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37		.	.	.	.	.	.	.	.	.	.	C	0.006	-2.057382	0.00390	0.073072	0.051508	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.26	3.26	0.37387	.	0.662706	0.15995	N	0.234623	T	0.00496	0.0016	N	0.00099	-2.14	0.54753	P	1.4999999999987246E-5	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.25950	-1.0117	8	0.02654	T	1	0.2567	9.8043	0.40783	0.2076:0.7924:0.0:0.0	.	497;521;521;466	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	S	521;521;497;521;521;465;433	.	ENSP00000337541:Y521S	Y	+	2	0	FAM21C	45574782	0.554000	0.26522	0.660000	0.29694	0.197000	0.23852	2.157000	0.42320	0.721000	0.32231	-0.488000	0.04728	TAC	A|0.300;C|0.700		0.413	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
TAF5	6877	hgsc.bcm.edu	37	10	105128134	105128134	+	Missense_Mutation	SNP	T	T	G	rs10883859	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr10:105128134T>G	ENST00000369839.3	+	1	411	c.388T>G	c.(388-390)Tcc>Gcc	p.S130A	TAF5_ENST00000351396.4_Missense_Mutation_p.S130A	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	130			S -> A (in dbSNP:rs10883859). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8758937, ECO:0000269|PubMed:9045704, ECO:0000269|Ref.5}.		chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AGTGGCGGGCTCCGGAGCCCC	0.741													T|||	1553	0.310104	0.1952	0.4078	5008	,	,		9029	0.4206		0.329	False		,,,				2504	0.2628				p.S130A		.											.	TAF5-92	0			c.T388G						.	T	ALA/SER	635,2955		63,509,1223	3.0	5.0	4.0		388	1.9	1.0	10	dbSNP_120	4	2122,5176		327,1468,1854	no	missense	TAF5	NM_006951.3	99	390,1977,3077	GG,GT,TT		29.0765,17.688,25.3215	benign	130/801	105128134	2757,8131	1795	3649	5444	SO:0001583	missense	6877	exon1			GCGGGCTCCGGAG	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.388T>G	10.37:g.105128134T>G	ENSP00000358854:p.Ser130Ala	1	0		11	4	NM_006951	0	0	0	0	0	A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	CCDS7547.1	821	0.3759157509157509	127	0.258130081300813	150	0.4143646408839779	277	0.48426573426573427	267	0.35224274406332456	T	12.78	2.040311	0.35989	0.17688	0.290765	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.55930	0.73;0.49	4.45	1.88	0.25563	.	0.435426	0.24978	N	0.034100	T	0.00012	0.0000	N	0.04508	-0.205	0.41867	P	0.009742999999999946	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46373	-0.9196	9	0.09338	T	0.73	-0.0936	6.2404	0.20787	0.1492:0.0:0.2595:0.5913	rs10883859	130;130	Q15542-2;Q15542	.;TAF5_HUMAN	A	130	ENSP00000358854:S130A;ENSP00000311024:S130A	ENSP00000311024:S130A	S	+	1	0	TAF5	105118124	0.988000	0.35896	1.000000	0.80357	0.948000	0.59901	0.932000	0.28884	0.814000	0.34374	0.459000	0.35465	TCC	T|0.623;G|0.377		0.741	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1		
CPXM2	119587	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	125516731	125516731	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr10:125516731delG	ENST00000241305.3	-	12	2069	c.1915delC	c.(1915-1917)cagfs	p.Q639fs	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	639					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CAATATACCTGCTCCATGAAC	0.547																																					p.Q639fs		.											.	CPXM2-92	0			c.1915delC						.						156.0	122.0	134.0					10																	125516731		2203	4300	6503	SO:0001589	frameshift_variant	119587	exon12			ATACCTGCTCCAT	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1915delC	10.37:g.125516731delG	ENSP00000241305:p.Gln639fs	144	0		90	64	NM_198148	0	0	0	0	0	B4E3Q2	Frame_Shift_Del	DEL	ENST00000241305.3	37	CCDS7637.1																																																																																			.		0.547	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	
MUC5B	727897	hgsc.bcm.edu	37	11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	rs202127660		TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		.											.	.	0			c.A2045G						.						21.0	24.0	23.0					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	55	0		108	6	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MYBPC3	4607	bcgsc.ca	37	11	47354787	47354787	+	Silent	SNP	C	C	T	rs1052373	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr11:47354787C>T	ENST00000545968.1	-	30	3342	c.3288G>A	c.(3286-3288)gaG>gaA	p.E1096E	MYBPC3_ENST00000399249.2_Silent_p.E1096E|MYBPC3_ENST00000256993.4_Silent_p.E1095E	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1096	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		ACCCCCAGAGCTCCGTGTTGC	0.637													C|||	2385	0.476238	0.5083	0.3329	5008	,	,		19715	0.7202		0.3072	False		,,,				2504	0.4571				p.E1096E		.											.	MYBPC3-92	0			c.G3288A						.	C		1833,2133		433,967,583	41.0	47.0	45.0		3288	2.4	0.7	11	dbSNP_86	45	2524,5782		385,1754,2014	yes	coding-synonymous	MYBPC3	NM_000256.3		818,2721,2597	TT,TC,CC		30.3877,46.2179,35.5036		1096/1275	47354787	4357,7915	1983	4153	6136	SO:0001819	synonymous_variant	4607	exon29			CCAGAGCTCCGTG	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.3288G>A	11.37:g.47354787C>T		135	1		72	5	NM_000256	0	0	25	25	0	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	CCDS53621.1																																																																																			C|0.557;T|0.443		0.637	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3		
FNBP4	23360	hgsc.bcm.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596|rs67450550|rs397711020	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	GGTGGT	GGTGGT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58						nucleus (GO:0005634)		p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748														1722	0.34385	0.084	0.317	5008	,	,		12964	0.4345		0.4304	False		,,,				2504	0.5317				p.58_59del		.											.	FNBP4-91	3	Deletion - In frame(3)	prostate(1)|breast(1)|central_nervous_system(1)	c.172_177del						.			233,2043		62,109,967						-2.3	0.0		dbSNP_130	3	1924,3380		655,614,1383	no	coding	FNBP4	NM_015308.2		717,723,2350	A1A1,A1R,RR		36.2745,10.2373,28.4565				2157,5423				SO:0001651	inframe_deletion	23360	exon1			CACCGCGGTGGTG	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.172_177delACCACC	11.37:g.47788670_47788675delGGTGGT	ENSP00000263773:p.Thr58_Thr59del	1	0		19	18	NM_015308	0	0	0	0	0	Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	ENST00000263773.5	37	CCDS41644.1																																																																																			.		0.748	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3		
OR5M10	390167	hgsc.bcm.edu;ucsc.edu|hgsc.bcm.edu	37	11	56344846	56344847	+	Missense_Mutation	DNP	TT	TT	AG	rs148438199	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr11:56344846_56344847TT>AG	ENST00000526812.2	-	1	416_417	c.351_352AA>CT	c.(349-354)tcAAtg>tcCTtg	p.M118L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCCAATGCCATTGAAGCAAGGA	0.45																																					p.M118L|p.S117S		.											.	.	0			c.A352T|c.A351C						.																																			SO:0001583	missense	390167	exon1			ATGCCATTGAAGC|TGCCATTGAAGCA	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.351_352delinsAG	11.37:g.56344846_56344847delinsAG	ENSP00000436004:p.Met118Leu	178|181	0		123|120	18|13	NM_001004741	0	0	0	0	0	B9EIL9	Missense_Mutation|Silent	SNP	ENST00000526812.2	37	CCDS53630.1																																																																																			.		0.450	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741	
SLC43A3	29015	broad.mit.edu;bcgsc.ca	37	11	57175299	57175299	+	Missense_Mutation	SNP	C	C	T	rs141037487	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr11:57175299C>T	ENST00000395123.2	-	14	1746	c.1442G>A	c.(1441-1443)cGt>cAt	p.R481H	RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000533524.1_Missense_Mutation_p.R494H|SLC43A3_ENST00000529554.1_Missense_Mutation_p.R481H|SLC43A3_ENST00000352187.1_Missense_Mutation_p.R481H|SLC43A3_ENST00000395124.1_Missense_Mutation_p.R481H	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	481					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TTTCCAAGTACGGCATTCCCG	0.478																																					p.R481H		.											.	SLC43A3-90	0			c.G1442A						.	C	HIS/ARG,HIS/ARG,HIS/ARG	0,4402		0,0,2201	122.0	103.0	109.0		1442,1442,1442	-1.8	0.0	11	dbSNP_134	109	2,8590	2.2+/-6.3	0,2,4294	yes	missense,missense,missense	SLC43A3	NM_014096.2,NM_017611.2,NM_199329.1	29,29,29	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	481/492,481/492,481/492	57175299	2,12992	2201	4296	6497	SO:0001583	missense	29015	exon14			CAAGTACGGCATT	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1442G>A	11.37:g.57175299C>T	ENSP00000378555:p.Arg481His	121	0		121	5	NM_017611	0	0	17	17	0	B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966812	0.53507	0.0	2.33E-4	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524	D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58	4.49	-1.77	0.07982	Major facilitator superfamily domain, general substrate transporter (1);	0.307243	0.23754	N	0.044881	D	0.82903	0.5138	L	0.46157	1.445	0.09310	N	1	D;D	0.89917	0.999;1.0	P;P	0.61592	0.835;0.891	T	0.75271	-0.3376	10	0.72032	D	0.01	-1.3115	8.3304	0.32182	0.0:0.3819:0.0:0.6181	.	494;481	E7EQD2;Q8NBI5	.;S43A3_HUMAN	H	481;481;481;481;494	ENSP00000378555:R481H;ENSP00000378556:R481H;ENSP00000337561:R481H;ENSP00000436254:R481H;ENSP00000434515:R494H	ENSP00000337561:R481H	R	-	2	0	SLC43A3	56931875	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	-0.528000	0.06193	-0.224000	0.09928	0.561000	0.74099	CGT	C|0.999;T|0.001		0.478	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611	
TM7SF2	7108	hgsc.bcm.edu	37	11	64880090	64880090	+	Silent	SNP	G	G	C	rs4930284	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr11:64880090G>C	ENST00000279263.7	+	2	318	c.156G>C	c.(154-156)ccG>ccC	p.P52P	AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000540748.1_5'UTR|TM7SF2_ENST00000345348.5_Silent_p.P52P	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	52					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTCCCTGCCGGGGCTGGAGG	0.756													C|||	4990	0.996406	0.9879	0.9986	5008	,	,		10438	1.0		0.999	False		,,,				2504	1.0				p.P52P		.											.	TM7SF2-91	0			c.G156C						.	C		2924,8		1458,8,0	2.0	2.0	2.0		156	-9.8	0.0	11	dbSNP_111	2	6426,0		3213,0,0	no	coding-synonymous	TM7SF2	NM_003273.2		4671,8,0	CC,CG,GG		0.0,0.2729,0.0855		52/419	64880090	9350,8	1466	3213	4679	SO:0001819	synonymous_variant	7108	exon2			CCTGCCGGGGCTG	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.156G>C	11.37:g.64880090G>C		0	0		10	10	NM_003273	0	2	0	663	661	A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Silent	SNP	ENST00000279263.7	37	CCDS41669.1																																																																																			G|0.005;C|0.995		0.756	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273	
B3GNT6	192134	hgsc.bcm.edu	37	11	76751587	76751587	+	Nonsense_Mutation	SNP	G	G	A	rs34153015	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr11:76751587G>A	ENST00000354301.5	+	4	1078	c.990G>A	c.(988-990)tgG>tgA	p.W330*	B3GNT6_ENST00000533140.1_Missense_Mutation_p.G331D|B3GNT6_ENST00000421061.1_Splice_Site	NM_138706.3	NP_619651.3	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GGGCATCCTGGCCCTTCGGCG	0.692													G|||	1281	0.255791	0.3585	0.2147	5008	,	,		13424	0.2143		0.2942	False		,,,				2504	0.1493				p.R330R		.											.	.	0			c.G990A						.						10.0	9.0	9.0					11																	76751587		1911	3789	5700	SO:0001587	stop_gained	192134	exon4			ATCCTGGCCCTTC	AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000354301.5:c.990G>A	11.37:g.76751587G>A	ENSP00000346256:p.Trp330*	1	0		20	15	NM_138706	0	0	0	0	0	Q4TTN0	Silent	SNP	ENST00000354301.5	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	34|34|34	5.365112|5.365112|5.365112	0.95877|0.95877|0.95877	.|.|.	.|.|.	ENSG00000198488|ENSG00000198488|ENSG00000198488	ENST00000421061|ENST00000533140|ENST00000354301	.|T|.	.|0.32753|.	.|1.44|.	2.89|2.89|2.89	2.89|2.89|2.89	0.33648|0.33648|0.33648	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.77705|.	.|0.4170|.	M|M|M	0.89414|0.89414|0.89414	3.03|3.03|3.03	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.80997|.	.|-0.1132|.	.|7|.	.|0.72032|0.51188	.|D|T	.|0.01|0.08	.|.|.	11.9946|11.9946|11.9946	0.53194|0.53194|0.53194	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs34153015;rs60039344|rs34153015;rs60039344|rs34153015;rs60039344	.|.|.	.|.|.	.|.|.	.|D|X	-1|331|330	.|ENSP00000435352:G331D|.	.|ENSP00000435352:G331D|ENSP00000346256:W330X	.|G|W	+|+|+	.|2|3	.|0|0	B3GNT6|B3GNT6|B3GNT6	76429235|76429235|76429235	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.973000|0.973000|0.973000	0.67179|0.67179|0.67179	0.648000|0.648000|0.648000	0.24828|0.24828|0.24828	1.903000|1.903000|1.903000	0.55091|0.55091|0.55091	0.455000|0.455000|0.455000	0.32223|0.32223|0.32223	.|GGC|TGG	A|1.000;|0.000		0.692	B3GNT6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138706	
TAS2R19	259294	bcgsc.ca	37	12	11174466	11174466	+	Silent	SNP	G	G	A	rs199592952		TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr12:11174466G>A	ENST00000390673.2	-	1	753	c.705C>T	c.(703-705)ctC>ctT	p.L235L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	235					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAAATAACATGAGGAAGGAGG	0.413																																					p.L235L		.											.	TAS2R19-91	0			c.C705T						.						168.0	158.0	161.0					12																	11174466		2203	4300	6503	SO:0001819	synonymous_variant	259294	exon1			TAACATGAGGAAG	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.705C>T	12.37:g.11174466G>A		201	4		272	18	NM_176888	0	0	1	1	0	Q3MIJ4|Q645X8	Silent	SNP	ENST00000390673.2	37	CCDS8640.1																																																																																			.		0.413	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888	
ALG10	84920	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	34175538	34175538	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr12:34175538G>A	ENST00000266483.2	+	1	323	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	ALG10_ENST00000538927.1_Missense_Mutation_p.A2T|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	2					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGCTGGAATGGCGCAGCTGGA	0.572																																					p.A2T		.											.	ALG10-91	0			c.G4A						.						144.0	162.0	156.0					12																	34175538		2203	4300	6503	SO:0001583	missense	84920	exon1			GGAATGGCGCAGC	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.4G>A	12.37:g.34175538G>A	ENSP00000266483:p.Ala2Thr	126	0		173	63	NM_032834	0	0	0	1	1	Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927654	0.34002	.	.	ENSG00000139133	ENST00000266483;ENST00000538927	T;T	0.44881	1.52;0.91	2.77	2.77	0.32553	.	0.217926	0.46758	D	0.000278	T	0.22820	0.0551	N	0.11427	0.14	0.32728	N	0.509333	B	0.33694	0.421	B	0.32864	0.154	T	0.34950	-0.9808	10	0.40728	T	0.16	.	11.3602	0.49638	0.0:0.0:1.0:0.0	.	2	Q5BKT4	AG10A_HUMAN	T	2	ENSP00000266483:A2T;ENSP00000444084:A2T	ENSP00000266483:A2T	A	+	1	0	ALG10	34066805	1.000000	0.71417	0.981000	0.43875	0.027000	0.11550	6.646000	0.74348	1.580000	0.49851	0.184000	0.17185	GCG	.		0.572	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834	
AMDHD1	144193	hgsc.bcm.edu	37	12	96337183	96337183	+	Missense_Mutation	SNP	A	A	G	rs7955450	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr12:96337183A>G	ENST00000266736.2	+	1	113	c.7A>G	c.(7-9)Agc>Ggc	p.S3G	CCDC38_ENST00000549752.1_5'Flank|CCDC38_ENST00000344280.3_5'Flank|CCDC38_ENST00000546386.1_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	3			S -> G (in dbSNP:rs7955450). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15221005, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16541075}.		cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CGACATGGCAAGCGGCCACAG	0.736													G|||	3598	0.71845	0.702	0.6888	5008	,	,		10480	0.9554		0.6004	False		,,,				2504	0.6391				p.S3G		.											.	AMDHD1-90	0			c.A7G						.						2.0	3.0	3.0					12																	96337183		1177	2379	3556	SO:0001583	missense	144193	exon1			ATGGCAAGCGGCC	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.7A>G	12.37:g.96337183A>G	ENSP00000266736:p.Ser3Gly	0	0		12	11	NM_152435	0	0	0	0	0	A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	1561	0.7147435897435898	348	0.7073170731707317	233	0.643646408839779	540	0.9440559440559441	440	0.5804749340369393	G	5.553	0.286982	0.10513	.	.	ENSG00000139344	ENST00000266736	T	0.30714	1.52	4.39	-8.69	0.00855	.	0.734274	0.13810	N	0.361153	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.21540	T	0.41	.	1.8829	0.03231	0.44:0.0902:0.1959:0.2739	rs7955450;rs17856824;rs58541549;rs7955450	3	Q96NU7	HUTI_HUMAN	G	3	ENSP00000266736:S3G	ENSP00000266736:S3G	S	+	1	0	AMDHD1	94861314	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.592000	0.05747	-2.316000	0.00645	-1.140000	0.01884	AGC	A|0.273;G|0.727		0.736	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435	
GLT8D2	83468	broad.mit.edu	37	12	104383225	104383225	+	Silent	SNP	A	A	G			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr12:104383225A>G	ENST00000360814.4	-	11	1416	c.1011T>C	c.(1009-1011)ccT>ccC	p.P337P	GLT8D2_ENST00000548660.1_Silent_p.P337P|GLT8D2_ENST00000546436.1_Silent_p.P337P	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	337						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CTGCAGGGTCAGGAACAAACC	0.403																																					p.P337P		.											.	GLT8D2-92	0			c.T1011C						.						113.0	110.0	111.0					12																	104383225		2203	4300	6503	SO:0001819	synonymous_variant	83468	exon11			AGGGTCAGGAACA	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.1011T>C	12.37:g.104383225A>G		97	0		119	4	NM_031302	0	0	10	10	0	Q96KA2	Silent	SNP	ENST00000360814.4	37	CCDS9096.1																																																																																			.		0.403	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302	
ELF1	1997	broad.mit.edu	37	13	41515284	41515284	+	Silent	SNP	T	T	A			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr13:41515284T>A	ENST00000239882.3	-	8	1343	c.1029A>T	c.(1027-1029)acA>acT	p.T343T	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Silent_p.T319T	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	343			T -> S (in dbSNP:rs1056820). {ECO:0000269|PubMed:14702039}.		cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GTTTTAGAACTGTAGTGGCTC	0.473																																					p.T343T		.											.	ELF1-227	0			c.A1029T						.						167.0	156.0	160.0					13																	41515284		2203	4300	6503	SO:0001819	synonymous_variant	1997	exon8			TAGAACTGTAGTG	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1029A>T	13.37:g.41515284T>A		71	0		75	3	NM_172373	0	0	0	0	0	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Silent	SNP	ENST00000239882.3	37	CCDS9374.1																																																																																			.		0.473	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373	
DACH1	1602	hgsc.bcm.edu	37	13	72440668	72440668	+	Silent	SNP	G	G	T	rs587763283	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr13:72440668G>T	ENST00000359684.2	-	1	239	c.240C>A	c.(238-240)ggC>ggA	p.G80G	DACH1_ENST00000313174.7_Silent_p.G80G|DACH1_ENST00000305425.4_Silent_p.G80G|DACH1_ENST00000354591.4_Silent_p.G80G			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	80	Poly-Gly.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		tgccgccgccgccgccgccgc	0.801													G|||	26	0.00519169	0.0061	0.0101	5008	,	,		3728	0.001		0.008	False		,,,				2504	0.002				p.G80G		.											.	DACH1-135	0			c.C240A						.						1.0	1.0	1.0					13																	72440668		164	758	922	SO:0001819	synonymous_variant	1602	exon1			GCCGCCGCCGCCG	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.240C>A	13.37:g.72440668G>T		0	0		4	4	NM_080759	0	0	0	0	0	D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37																																																																																				.		0.801	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392	
DACH1	1602	hgsc.bcm.edu	37	13	72440673	72440673	+	Missense_Mutation	SNP	C	C	T	rs200162861		TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr13:72440673C>T	ENST00000359684.2	-	1	234	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	DACH1_ENST00000313174.7_Missense_Mutation_p.G79S|DACH1_ENST00000305425.4_Missense_Mutation_p.G79S|DACH1_ENST00000354591.4_Missense_Mutation_p.G79S			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	79	Poly-Gly.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		ccgccgccgccgccgccgccg	0.801																																					p.G79S		.											.	DACH1-135	0			c.G235A						.						1.0	1.0	1.0					13																	72440673		224	1002	1226	SO:0001583	missense	1602	exon1			CGCCGCCGCCGCC	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.235G>A	13.37:g.72440673C>T	ENSP00000352712:p.Gly79Ser	0	0		4	4	NM_080759	0	0	4	4	0	D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37		.	.	.	.	.	.	.	.	.	.	c	9.793	1.178369	0.21787	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;D	0.87029	1.13;1.28;1.4;-2.2	3.05	3.05	0.35203	.	.	.	.	.	T	0.71787	0.3381	N	0.12182	0.205	0.25137	N	0.990525	B;B;B	0.18863	0.031;0.006;0.003	B;B;B	0.06405	0.002;0.001;0.001	T	0.55798	-0.8084	9	0.09843	T	0.71	-0.641	8.5869	0.33664	0.2302:0.7698:0.0:0.0	.	79;79;79	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	S	79	ENSP00000304994:G79S;ENSP00000318506:G79S;ENSP00000346604:G79S;ENSP00000352712:G79S	ENSP00000304994:G79S	G	-	1	0	DACH1	71338674	0.981000	0.34729	0.996000	0.52242	0.392000	0.30506	2.007000	0.40883	1.534000	0.49203	0.306000	0.20318	GGC	.		0.801	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392	
COL4A1	1282	bcgsc.ca	37	13	110850842	110850842	+	Silent	SNP	A	A	G	rs995224	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr13:110850842A>G	ENST00000375820.4	-	21	1378	c.1257T>C	c.(1255-1257)ccT>ccC	p.P419P	COL4A1_ENST00000543140.1_Silent_p.P419P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	419	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGGGGCCCAGGGGAACCAG	0.592													a|||	1034	0.20647	0.2073	0.3732	5008	,	,		16322	0.0546		0.2664	False		,,,				2504	0.182				p.P419P		.											.	COL4A1-654	0			c.T1257C						.			950,3456	326.9+/-299.8	107,736,1360	45.0	53.0	50.0		1257	-6.4	0.0	13	dbSNP_86	50	2334,6266	360.6+/-332.0	332,1670,2298	no	coding-synonymous	COL4A1	NM_001845.4		439,2406,3658	GG,GA,AA		27.1395,21.5615,25.2499		419/1670	110850842	3284,9722	2203	4300	6503	SO:0001819	synonymous_variant	1282	exon21			GGGCCCAGGGGAA	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1257T>C	13.37:g.110850842A>G		100	0		60	4	NM_001845	0	0	3	3	0	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	CCDS9511.1																																																																																			T|0.212;G|0.182;C|0.057;A|0.548		0.592	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		
NUTM1	256646	bcgsc.ca	37	15	34649211	34649211	+	Missense_Mutation	SNP	C	C	A	rs2279683	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr15:34649211C>A	ENST00000333756.4	+	7	3073	c.2918C>A	c.(2917-2919)aCt>aAt	p.T973N	NUTM1_ENST00000537011.1_Missense_Mutation_p.T1001N|NUTM1_ENST00000438749.3_Missense_Mutation_p.T991N	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	973			T -> N (in dbSNP:rs2279683).			cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTTGGAAGCACTTTGCCTAGA	0.478													C|||	447	0.0892572	0.0083	0.1484	5008	,	,		21946	0.1716		0.0646	False		,,,				2504	0.0971				p.T973N		.											.	C15orf55-206	0			c.C2918A						.	C	ASN/THR	108,4294	83.4+/-121.9	1,106,2094	47.0	44.0	45.0		2918	1.3	0.0	15	dbSNP_100	45	502,8094	143.1+/-199.2	10,482,3806	yes	missense	C15orf55	NM_175741.1	65	11,588,5900	AA,AC,CC		5.8399,2.4534,4.693	probably-damaging	973/1133	34649211	610,12388	2201	4298	6499	SO:0001583	missense	256646	exon7			GAAGCACTTTGCC	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2918C>A	15.37:g.34649211C>A	ENSP00000329448:p.Thr973Asn	222	0		156	6	NM_175741	0	0	0	0	0	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	CCDS32190.1	217	0.09935897435897435	10	0.02032520325203252	45	0.12430939226519337	110	0.19230769230769232	52	0.06860158311345646	C	15.01	2.707600	0.48412	0.024534	0.058399	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.10668	2.85;2.85;2.85	5.3	1.27	0.21489	.	0.884104	0.09910	N	0.739870	T	0.00039	0.0001	M	0.76574	2.34	0.80722	P	0.0	D;D;P	0.65815	0.977;0.995;0.917	P;D;P	0.68192	0.905;0.956;0.548	T	0.08638	-1.0712	9	0.62326	D	0.03	.	7.5041	0.27534	0.0:0.6442:0.0:0.3558	rs2279683;rs52799410;rs59018055;rs2279683	991;1001;973	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	N	1001;991;973	ENSP00000444896:T1001N;ENSP00000407031:T991N;ENSP00000329448:T973N	ENSP00000329448:T973N	T	+	2	0	C15orf55	32436503	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.403000	0.20982	0.385000	0.24970	0.655000	0.94253	ACT	C|0.931;A|0.069		0.478	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741	
NUTM1	256646	bcgsc.ca	37	15	34649247	34649247	+	Missense_Mutation	SNP	C	C	G	rs2279684	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr15:34649247C>G	ENST00000333756.4	+	7	3109	c.2954C>G	c.(2953-2955)cCg>cGg	p.P985R	NUTM1_ENST00000537011.1_Missense_Mutation_p.P1013R|NUTM1_ENST00000438749.3_Missense_Mutation_p.P1003R	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	985			P -> R (in dbSNP:rs2279684).			cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCCATAGTTCCGAGAGAAACT	0.483													C|||	485	0.096845	0.0083	0.1484	5008	,	,		22481	0.2093		0.0646	False		,,,				2504	0.0971				p.P985R		.											.	C15orf55-206	0			c.C2954G						.	C	ARG/PRO	111,4291	84.8+/-123.5	1,109,2091	42.0	38.0	39.0		2954	0.1	0.0	15	dbSNP_100	39	500,8096	141.4+/-197.7	10,480,3808	yes	missense	C15orf55	NM_175741.1	103	11,589,5899	GG,GC,CC		5.8167,2.5216,4.7007	benign	985/1133	34649247	611,12387	2201	4298	6499	SO:0001583	missense	256646	exon7			TAGTTCCGAGAGA	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2954C>G	15.37:g.34649247C>G	ENSP00000329448:p.Pro985Arg	226	0		169	7	NM_175741	0	0	0	0	0	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	CCDS32190.1	232	0.10622710622710622	10	0.02032520325203252	45	0.12430939226519337	125	0.21853146853146854	52	0.06860158311345646	C	11.30	1.598693	0.28445	0.025216	0.058167	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.11385	2.8;2.78;2.8	5.1	0.0779	0.14410	.	1.900700	0.02716	N	0.113471	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.31040	0.203;0.305;0.104	B;B;B	0.40565	0.179;0.333;0.033	T	0.40757	-0.9546	9	0.54805	T	0.06	.	4.1049	0.10032	0.0:0.2803:0.1751:0.5446	rs2279684;rs52805519;rs2279684	1003;1013;985	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	R	1013;1003;985	ENSP00000444896:P1013R;ENSP00000407031:P1003R;ENSP00000329448:P985R	ENSP00000329448:P985R	P	+	2	0	C15orf55	32436539	0.001000	0.12720	0.001000	0.08648	0.156000	0.22039	0.212000	0.17497	-0.135000	0.11495	-0.238000	0.12139	CCG	C|0.929;G|0.071		0.483	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741	
PLCB2	5330	hgsc.bcm.edu	37	15	40583560	40583560	+	Silent	SNP	G	G	T	rs62021888	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr15:40583560G>T	ENST00000260402.3	-	26	3025	c.2776C>A	c.(2776-2778)Cgg>Agg	p.R926R	PLCB2_ENST00000456256.2_Silent_p.R911R|PLCB2_ENST00000557821.1_Silent_p.R922R	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	926					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		gccgcgccccgctgcagcagc	0.736													G|||	808	0.161342	0.0121	0.2075	5008	,	,		8373	0.1518		0.337	False		,,,				2504	0.1595				p.R926R		.											.	PLCB2-275	0			c.C2776A						.						2.0	3.0	3.0					15																	40583560		1222	3008	4230	SO:0001819	synonymous_variant	5330	exon26			CGCCCCGCTGCAG		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.2776C>A	15.37:g.40583560G>T		0	0		6	6	NM_004573	0	0	0	0	0	A8K6J2|B9EGH5	Silent	SNP	ENST00000260402.3	37	CCDS42020.1																																																																																			G|0.817;T|0.183		0.736	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		
DMXL2	23312	ucsc.edu	37	15	51855576	51855576	+	Splice_Site	SNP	A	A	T			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr15:51855576A>T	ENST00000251076.5	-	6	855		c.e6+1		DMXL2_ENST00000560421.1_Splice_Site|DMXL2_ENST00000543779.2_Splice_Site|DMXL2_ENST00000449909.3_Splice_Site	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTGATCCTTTACCTTTCCAGC	0.308																																					.		.											.	DMXL2-99	0			c.567+2T>A						.						66.0	62.0	63.0					15																	51855576		2195	4291	6486	SO:0001630	splice_region_variant	23312	exon7			TCCTTTACCTTTC	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.567+1T>A	15.37:g.51855576A>T		49	0		41	4	NM_015263	0	0	1	1	0	B2RTR3|B7ZMH3|F5GWF1|O94938	Splice_Site	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.014733	0.75161	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7328	0.69393	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMXL2	49642868	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.325000	0.79124	2.199000	0.70637	0.477000	0.44152	.	.		0.308	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	Intron
RASGRF1	5923	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	79339163	79339163	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr15:79339163C>T	ENST00000419573.3	-	5	1077	c.803G>A	c.(802-804)cGc>cAc	p.R268H	RASGRF1_ENST00000558480.2_Missense_Mutation_p.R268H|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	268	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCGCAGCGGGCGCAGGAAATT	0.587																																					p.R268H		.											.	RASGRF1-662	0			c.G803A						.						139.0	112.0	121.0					15																	79339163		2196	4293	6489	SO:0001583	missense	5923	exon5			AGCGGGCGCAGGA	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.803G>A	15.37:g.79339163C>T	ENSP00000405963:p.Arg268His	150	1		110	64	NM_001145648	0	0	0	20	20	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518920	0.85495	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.64438	-0.1	4.03	4.03	0.46877	Dbl homology (DH) domain (5);	0.072935	0.53938	D	0.000041	T	0.72898	0.3518	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.64830	0.994;0.994;0.994;0.978	D;P;P;P	0.64321	0.924;0.868;0.828;0.633	T	0.76719	-0.2856	10	0.87932	D	0	.	13.7003	0.62604	0.0:1.0:0.0:0.0	.	268;268;268;268	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	H	268	ENSP00000405963:R268H	ENSP00000378224:R268H	R	-	2	0	RASGRF1	77126218	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.434000	0.80377	2.072000	0.62099	0.655000	0.94253	CGC	.		0.587	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
CCDC64B	146439	bcgsc.ca	37	16	3079685	3079685	+	Missense_Mutation	SNP	T	T	C	rs2244494	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr16:3079685T>C	ENST00000572449.1	-	6	880	c.818A>G	c.(817-819)cAg>cGg	p.Q273R	CCDC64B_ENST00000573514.1_Missense_Mutation_p.Q66R|RP11-473M20.5_ENST00000382225.3_RNA|CCDC64B_ENST00000389347.4_Missense_Mutation_p.Q273R			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	273			Q -> R (in dbSNP:rs2244494). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.							breast(1)|endometrium(2)|large_intestine(1)	4						GACGCGCCGCTGCAGCCTCCG	0.716													T|||	1229	0.245407	0.2632	0.2233	5008	,	,		14319	0.1786		0.3161	False		,,,				2504	0.2331				p.Q273R		.											.	.	0			c.A818G						.	T	ARG/GLN	743,3007		96,551,1228	3.0	4.0	4.0		818	5.1	1.0	16	dbSNP_100	4	1992,5836		292,1408,2214	no	missense	CCDC64B	NM_001103175.1	43	388,1959,3442	CC,CT,TT		25.4471,19.8133,23.6224	possibly-damaging	273/509	3079685	2735,8843	1875	3914	5789	SO:0001583	missense	146439	exon5			CGCCGCTGCAGCC	BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.818A>G	16.37:g.3079685T>C	ENSP00000459043:p.Gln273Arg	6	0		46	43	NM_001103175	0	0	0	0	0	Q658L9	Missense_Mutation	SNP	ENST00000572449.1	37	CCDS45393.1	561	0.25686813186813184	134	0.27235772357723576	78	0.2154696132596685	116	0.20279720279720279	233	0.3073878627968338	T	18.69	3.677950	0.68042	0.198133	0.254471	ENSG00000162069	ENST00000389347	T	0.33654	1.4	5.14	5.14	0.70334	.	0.155979	0.43110	D	0.000613	T	0.00012	0.0000	L	0.52573	1.65	0.09310	P	0.99999161124	D	0.61080	0.989	D	0.72982	0.979	T	0.22452	-1.0216	9	0.46703	T	0.11	-35.3406	11.3354	0.49500	0.0:0.0:0.0:1.0	rs2244494	273	A1A5D9	BICR2_HUMAN	R	273	ENSP00000373998:Q273R	ENSP00000373998:Q273R	Q	-	2	0	CCDC64B	3019686	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	2.560000	0.45896	1.956000	0.56807	0.402000	0.26972	CAG	T|0.740;C|0.260		0.716	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1		
IRX3	79191	hgsc.bcm.edu	37	16	54318528	54318528	+	Missense_Mutation	SNP	A	A	G	rs1450355	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr16:54318528A>G	ENST00000329734.3	-	2	1977	c.1265T>C	c.(1264-1266)cTg>cCg	p.L422P		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	422	Pro-rich.		L -> P (in dbSNP:rs1450355). {ECO:0000269|PubMed:15489334}.		mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GAGCGGGTGCAGGCGGGGGCC	0.776													g|||	4851	0.96865	0.888	0.987	5008	,	,		8017	1.0		1.0	False		,,,				2504	1.0				p.L422P	GBM(143;1830 1866 4487 4646 37383)	.											.	IRX3-90	0			c.T1265C						.	T	PRO/LEU	1678,102		788,102,0	1.0	2.0	2.0		1265	2.5	1.0	16	dbSNP_88	2	4195,3		2096,3,0	no	missense	IRX3	NM_024336.2	98	2884,105,0	GG,GA,AA		0.0715,5.7303,1.7564	benign	422/502	54318528	5873,105	890	2099	2989	SO:0001583	missense	79191	exon2			GGGTGCAGGCGGG	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.1265T>C	16.37:g.54318528A>G	ENSP00000331608:p.Leu422Pro	0	0		18	18	NM_024336	0	0	0	1	1	Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	CCDS10750.1	2108	0.9652014652014652	433	0.8800813008130082	354	0.9779005524861878	567	0.9912587412587412	754	0.9947229551451188	g	5.642	0.303067	0.10678	0.942697	0.999285	ENSG00000177508	ENST00000329734	T	0.54279	0.58	4.4	2.45	0.29901	.	0.652897	0.14990	N	0.286760	T	0.00012	0.0000	N	0.01352	-0.895	0.29914	P	0.82336	B	0.02656	0.0	B	0.01281	0.0	T	0.21861	-1.0233	9	0.33940	T	0.23	-4.0049	5.143	0.14969	0.1733:0.0:0.6627:0.164	rs1450355;rs17852160;rs60836119	422	P78415	IRX3_HUMAN	P	422	ENSP00000331608:L422P	ENSP00000331608:L422P	L	-	2	0	IRX3	52876029	1.000000	0.71417	0.984000	0.44739	0.000000	0.00434	1.455000	0.35190	0.155000	0.19261	-1.528000	0.00924	CTG	T|0.035;G|0.004		0.776	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2		
LRRC36	55282	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	67400961	67400961	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr16:67400961C>T	ENST00000329956.6	+	8	815	c.796C>T	c.(796-798)Cca>Tca	p.P266S	LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000563189.1_Missense_Mutation_p.P145S|LRRC36_ENST00000435835.3_Missense_Mutation_p.P145S	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	266										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AGTCCGATCCCCAGAGAAGAT	0.418																																					p.P266S		.											.	LRRC36-90	0			c.C796T						.						93.0	96.0	95.0					16																	67400961		2198	4300	6498	SO:0001583	missense	55282	exon8			CGATCCCCAGAGA	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.796C>T	16.37:g.67400961C>T	ENSP00000329943:p.Pro266Ser	124	0		102	72	NM_018296	0	0	0	0	0	A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601900	0.87055	.	.	ENSG00000159708	ENST00000329956;ENST00000435835	T;T	0.59364	2.0;0.27	6.16	6.16	0.99307	.	0.147215	0.48286	D	0.000194	T	0.73513	0.3596	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.73886	-0.3841	10	0.87932	D	0	-11.5395	16.3599	0.83257	0.0:1.0:0.0:0.0	.	145;145;266	B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;LRC36_HUMAN	S	266;145	ENSP00000329943:P266S;ENSP00000411122:P145S	ENSP00000329943:P266S	P	+	1	0	LRRC36	65958462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.091000	0.57700	2.937000	0.99478	0.650000	0.86243	CCA	.		0.418	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296	
ZFPM1	161882	hgsc.bcm.edu	37	16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-	rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	1	0		19	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
CDH15	1013	hgsc.bcm.edu	37	16	89258747	89258747	+	Missense_Mutation	SNP	A	A	C	rs75791347	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr16:89258747A>C	ENST00000289746.2	+	11	1815	c.1750A>C	c.(1750-1752)Aag>Cag	p.K584Q		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	584	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCGCTGCGGCAAGGACGGCGT	0.751													c|||	2269	0.453075	0.3616	0.3804	5008	,	,		8209	0.6528		0.4304	False		,,,				2504	0.4458				p.K584Q		.											.	CDH15-523	0			c.A1750C						.		GLN/LYS	719,2255		126,467,894	2.0	3.0	2.0		1750	-4.4	0.0	16	dbSNP_131	2	1977,4371		402,1173,1599	no	missense	CDH15	NM_004933.2	53	528,1640,2493	CC,CA,AA		31.1437,24.1762,28.9208	benign	584/815	89258747	2696,6626	1487	3174	4661	SO:0001583	missense	1013	exon11			TGCGGCAAGGACG	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1750A>C	16.37:g.89258747A>C	ENSP00000289746:p.Lys584Gln	0	0		7	7	NM_004933	0	0	0	0	0		Missense_Mutation	SNP	ENST00000289746.2	37	CCDS10976.1	1014	0.4642857142857143	172	0.34959349593495936	127	0.35082872928176795	372	0.6503496503496503	343	0.4525065963060686	c	3.132	-0.178252	0.06380	0.241762	0.311437	ENSG00000129910	ENST00000289746	T	0.56941	0.43	4.6	-4.43	0.03568	Cadherin (1);	1.872270	0.03679	N	0.245167	T	0.00012	0.0000	N	0.05383	-0.06	0.80722	P	0.0	B	0.06786	0.001	B	0.08055	0.003	T	0.38802	-0.9644	9	0.18276	T	0.48	.	3.3286	0.07076	0.1871:0.1478:0.4907:0.1744	.	584	P55291	CAD15_HUMAN	Q	584	ENSP00000289746:K584Q	ENSP00000289746:K584Q	K	+	1	0	CDH15	87786248	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.609000	0.05635	-0.999000	0.03442	-0.675000	0.03792	AAG	A|0.532;C|0.468		0.751	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933	
MIEF2	125170	bcgsc.ca	37	17	18167505	18167505	+	Silent	SNP	T	T	C	rs2605143	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr17:18167505T>C	ENST00000323019.4	+	4	1003	c.792T>C	c.(790-792)gcT>gcC	p.A264A	MIEF2_ENST00000395704.4_3'UTR|MIEF2_ENST00000395706.2_Silent_p.A275A	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	264					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											CGCTGGCTGCTTCTGTCAACT	0.687													C|||	3390	0.676917	0.9039	0.696	5008	,	,		16120	0.5427		0.66	False		,,,				2504	0.5123				p.A275A		.											.	SMCR7-90	0			c.T825C						.	C	,,	3699,693		1559,581,56	14.0	16.0	15.0		,792,825	5.6	0.7	17	dbSNP_100	15	5781,2799		1961,1859,470	no	utr-3,coding-synonymous,coding-synonymous	SMCR7	NM_001144900.1,NM_139162.3,NM_148886.1	,,	3520,2440,526	CC,CT,TT		32.6224,15.7787,26.9195	,,	,264/455,275/466	18167505	9480,3492	2196	4290	6486	SO:0001819	synonymous_variant	125170	exon4			GGCTGCTTCTGTC	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.792T>C	17.37:g.18167505T>C		26	0		48	4	NM_148886	0	0	41	41	0	J3KPT3|Q6ZRD4|Q96N07	Silent	SNP	ENST00000323019.4	37	CCDS11193.1																																																																																			T|0.281;C|0.719		0.687	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162	
PRKAR1A	5573	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	66526554	66526554	+	Frame_Shift_Del	DEL	C	C	-	rs62638722		TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr17:66526554delC	ENST00000589228.1	+	11	1238	c.1110delC	c.(1108-1110)atcfs	p.I370fs	PRKAR1A_ENST00000586397.1_Frame_Shift_Del_p.I370fs|PRKAR1A_ENST00000358598.2_Frame_Shift_Del_p.I370fs|PRKAR1A_ENST00000588188.2_Intron|PRKAR1A_ENST00000536854.2_Frame_Shift_Del_p.I370fs|PRKAR1A_ENST00000392711.1_Frame_Shift_Del_p.I370fs	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	370					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					AACGAAACATCCAGCAGTACA	0.502			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												p.I370fs	Ovarian(167;637 1670 33025 39608 46699 51856)	.	yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""		"""E, M"""	.	PRKAR1A-1141	0			c.1110delC						.						212.0	166.0	182.0					17																	66526554		2203	4300	6503	SO:0001589	frameshift_variant	5573	exon11	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	AAACATCCAGCAG		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.1110delC	17.37:g.66526554delC	ENSP00000464977:p.Ile370fs	145	0		114	81	NM_212472	0	0	0	0	0	K7ER48|Q567S7	Frame_Shift_Del	DEL	ENST00000589228.1	37	CCDS11678.1																																																																																			.		0.502	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1		
TMEM200C	645369	hgsc.bcm.edu	37	18	5890565	5890565	+	Missense_Mutation	SNP	G	G	C	rs200146022		TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr18:5890565G>C	ENST00000581347.2	-	3	2143	c.1498C>G	c.(1498-1500)Ctg>Gtg	p.L500V	RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.L500V|RP11-945C19.4_ENST00000582939.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	500	Pro-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GCCTTGGCCAGAGGGCTGGAG	0.781																																					p.L500V		.											.	.	0			c.C1498G						.	G	VAL/LEU	1,2669		0,1,1334	3.0	3.0	3.0		1498	-4.0	0.0	18		3	21,6251		0,21,3115	no	missense	TMEM200C	NM_001080209.1	32	0,22,4449	CC,CG,GG		0.3348,0.0375,0.246	benign	500/622	5890565	22,8920	1335	3136	4471	SO:0001583	missense	645369	exon1			TGGCCAGAGGGCT		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.1498C>G	18.37:g.5890565G>C	ENSP00000463375:p.Leu500Val	1	0		20	18	NM_001080209	0	0	0	0	0		Missense_Mutation	SNP	ENST00000581347.2	37	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	G	4.846	0.157178	0.09236	3.75E-4	0.003348	ENSG00000206432	ENST00000383490	.	.	.	4.37	-4.03	0.04021	.	.	.	.	.	T	0.19604	0.0471	N	0.08118	0	0.09310	N	1	P	0.37525	0.598	B	0.39771	0.309	T	0.22103	-1.0226	8	0.33141	T	0.24	.	12.5897	0.56436	0.7048:0.0:0.2952:0.0	.	500	A6NKL6	T200C_HUMAN	V	500	.	ENSP00000372982:L500V	L	-	1	2	TMEM200C	5880565	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.470000	0.22084	-0.762000	0.04664	-0.258000	0.10820	CTG	.		0.781	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209	
GNAL	2774	hgsc.bcm.edu	37	18	11689699	11689699	+	Missense_Mutation	SNP	G	G	A	rs7236433	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr18:11689699G>A	ENST00000334049.6	+	1	745	c.137G>A	c.(136-138)aGg>aAg	p.R46K		NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	40					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						gcggccgcAAGGGACACGGCC	0.791													G|||	430	0.0858626	0.0802	0.0951	5008	,	,		7032	0.0288		0.1451	False		,,,				2504	0.0849				p.R46K		.											.	GNAL-228	0			c.G137A						.						1.0	2.0	2.0					18																	11689699		1256	2681	3937	SO:0001583	missense	2774	exon1			CCGCAAGGGACAC	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000334049.6:c.137G>A	18.37:g.11689699G>A	ENSP00000334051:p.Arg46Lys	1	0		21	19	NM_182978	0	0	0	0	0	B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000334049.6	37	CCDS11851.1	193	0.08836996336996338	36	0.07317073170731707	38	0.10497237569060773	11	0.019230769230769232	108	0.1424802110817942	G	6.979	0.550668	0.13374	.	.	ENSG00000141404	ENST00000334049	D	0.87491	-2.26	1.68	-3.36	0.04913	.	1.758760	0.04952	U	0.460515	T	0.01695	0.0054	.	.	.	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.17319	-1.0373	8	0.33940	T	0.23	.	5.1989	0.15252	0.2328:0.3029:0.4643:0.0	rs7236433	46	Q86XU3	.	K	46	ENSP00000334051:R46K	ENSP00000334051:R46K	R	+	2	0	GNAL	11679699	0.069000	0.21087	0.000000	0.03702	0.003000	0.03518	-0.079000	0.11357	-1.203000	0.02652	-1.468000	0.01013	AGG	G|0.908;A|0.092		0.791	GNAL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254560.2	NM_182978, NM_002071	
ZNF407	55628	broad.mit.edu	37	18	72346693	72346693	+	Missense_Mutation	SNP	G	G	T	rs369647346		TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr18:72346693G>T	ENST00000299687.5	+	1	3718	c.3718G>T	c.(3718-3720)Ggt>Tgt	p.G1240C	ZNF407_ENST00000577538.1_Missense_Mutation_p.G1240C|ZNF407_ENST00000309902.6_Missense_Mutation_p.G1240C|ZNF407_ENST00000582337.1_Missense_Mutation_p.G1240C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CGCAGGAGACGGTGGAGGTGT	0.532																																					p.G1240C		.											.	ZNF407-92	0			c.G3718T						.						53.0	60.0	58.0					18																	72346693		2049	4184	6233	SO:0001583	missense	55628	exon1			GGAGACGGTGGAG	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3718G>T	18.37:g.72346693G>T	ENSP00000299687:p.Gly1240Cys	111	0		87	4	NM_001146190	0	0	1	1	0	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361570	0.24684	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.10005	2.92;3.35	4.85	-6.2	0.02072	.	1.306320	0.05102	N	0.487249	T	0.07052	0.0179	N	0.08118	0	0.09310	N	1	P;P;P	0.43857	0.819;0.819;0.724	P;P;B	0.48368	0.575;0.575;0.371	T	0.45673	-0.9245	10	0.54805	T	0.06	.	5.9315	0.19142	0.6058:0.0935:0.2137:0.0871	.	1240;1240;1240	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	C	1240	ENSP00000299687:G1240C;ENSP00000310359:G1240C	ENSP00000299687:G1240C	G	+	1	0	ZNF407	70475681	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.340000	0.01101	0.465000	0.27167	0.655000	0.94253	GGT	.		0.532	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
ATP9B	374868	hgsc.bcm.edu	37	18	76829525	76829525	+	Missense_Mutation	SNP	A	A	G	rs4078115	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr18:76829525A>G	ENST00000426216.2	+	1	132	c.115A>G	c.(115-117)Agc>Ggc	p.S39G	ATP9B_ENST00000458297.2_5'UTR|ATP9B_ENST00000307671.7_Missense_Mutation_p.S39G|ATP9B_ENST00000591464.1_3'UTR|ATP9B_ENST00000586722.1_Missense_Mutation_p.S39G	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	39			S -> G (in dbSNP:rs4078115). {ECO:0000269|PubMed:15489334}.		establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CGACCGGCACAGCAGGTAACC	0.771													a|||	1574	0.314297	0.2277	0.2046	5008	,	,		9814	0.4494		0.2565	False		,,,				2504	0.4294				p.S39G		.											.	ATP9B-93	0			c.A115G						.		GLY/SER	504,2920		44,416,1252	3.0	4.0	4.0		115	-0.3	1.0	18	dbSNP_108	4	1215,5401		129,957,2222	no	missense	ATP9B	NM_198531.3	56	173,1373,3474	GG,GA,AA		18.3646,14.7196,17.1215	benign	39/1148	76829525	1719,8321	1712	3308	5020	SO:0001583	missense	374868	exon1			CGGCACAGCAGGT	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.115A>G	18.37:g.76829525A>G	ENSP00000398076:p.Ser39Gly	0	0		20	20	NM_198531	0	0	0	0	0	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	670	0.3067765567765568	104	0.21138211382113822	83	0.2292817679558011	281	0.49125874125874125	202	0.26649076517150394	a	7.584	0.669300	0.14776	0.147196	0.183646	ENSG00000166377	ENST00000426216;ENST00000307671	T;T	0.56103	0.48;0.48	2.56	-0.308	0.12773	.	1.710450	0.03865	N	0.274617	T	0.00012	0.0000	N	0.03608	-0.345	0.09310	P	0.99999999821082	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41016	-0.9532	9	0.23302	T	0.38	.	4.8264	0.13417	0.5235:0.0:0.4765:0.0	rs4078115;rs4327119	39;39;39	O43861;O43861-2;B4DJ94	ATP9B_HUMAN;.;.	G	39	ENSP00000398076:S39G;ENSP00000304500:S39G	ENSP00000304500:S39G	S	+	1	0	ATP9B	74930513	1.000000	0.71417	0.996000	0.52242	0.256000	0.26092	1.165000	0.31822	-0.197000	0.10350	-0.465000	0.05216	AGC	A|0.693;G|0.307		0.771	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531	
ARID3A	1820	hgsc.bcm.edu	37	19	929753	929753	+	Silent	SNP	A	A	G	rs1799595	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr19:929753A>G	ENST00000263620.3	+	2	552	c.225A>G	c.(223-225)ccA>ccG	p.P75P	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	75						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACACCCAGCCAGCCCCG	0.751													t|||	4428	0.884185	0.9062	0.804	5008	,	,		8534	0.998		0.836	False		,,,				2504	0.8436				p.P75P	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.A225G						.	G		3389,305		1555,279,13	4.0	5.0	5.0		225	-6.8	0.0	19	dbSNP_89	5	6619,1123		2834,951,86	no	coding-synonymous	ARID3A	NM_005224.2		4389,1230,99	GG,GA,AA		14.5053,8.2566,12.4869		75/594	929753	10008,1428	1847	3871	5718	SO:0001819	synonymous_variant	1820	exon2			ACACCCAGCCAGC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.225A>G	19.37:g.929753A>G		0	0		11	11	NM_005224	0	0	0	0	0	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			A|0.114;G|0.886		0.751	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224	
TCF3	6929	hgsc.bcm.edu	37	19	1619333	1619333	+	Silent	SNP	G	G	A	rs1140828	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr19:1619333G>A	ENST00000262965.5	-	15	1652	c.1308C>T	c.(1306-1308)ggC>ggT	p.G436G	TCF3_ENST00000344749.5_Silent_p.G436G|TCF3_ENST00000588136.1_Silent_p.G436G|RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Silent_p.G385G|TCF3_ENST00000453954.2_Silent_p.G352G	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGCCGCCCGCCCAGTGACA	0.746			T	"""PBX1, HLF, TFPT"""	pre B-ALL								G|||	1179	0.235423	0.1702	0.2435	5008	,	,		13595	0.2897		0.3032	False		,,,				2504	0.1922				p.G436G		.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3-721	0			c.C1308T						.	G	,	770,3572		79,612,1480	11.0	14.0	13.0		1308,1308	-3.3	0.4	19	dbSNP_86	13	2644,5770		436,1772,1999	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	515,2384,3479	AA,AG,GG		31.4238,17.7338,26.7639	,	436/652,436/655	1619333	3414,9342	2171	4207	6378	SO:0001819	synonymous_variant	6929	exon15			CCGCCCGCCCAGT	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1308C>T	19.37:g.1619333G>A		0	0		27	26	NM_003200	0	0	2	2	0	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			G|0.749;A|0.251		0.746	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200	
TCF3	6929	hgsc.bcm.edu	37	19	1619339	1619339	+	Silent	SNP	T	T	C	rs8140	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr19:1619339T>C	ENST00000262965.5	-	15	1646	c.1302A>G	c.(1300-1302)tcA>tcG	p.S434S	TCF3_ENST00000344749.5_Silent_p.S434S|TCF3_ENST00000588136.1_Silent_p.S434S|RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Silent_p.S383S|TCF3_ENST00000453954.2_Silent_p.S350S	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGCCCAGTGACATGGGGC	0.746			T	"""PBX1, HLF, TFPT"""	pre B-ALL								C|||	3124	0.623802	0.7723	0.5187	5008	,	,		13680	0.8839		0.3658	False		,,,				2504	0.4949				p.S434S		.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3-721	0			c.A1302G						.	C	,	3016,1346		1071,874,236	11.0	14.0	13.0		1302,1302	-7.1	0.0	19	dbSNP_52	13	3268,5190		653,1962,1614	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	1724,2836,1850	CC,CT,TT		38.638,30.8574,49.0172	,	434/652,434/655	1619339	6284,6536	2181	4229	6410	SO:0001819	synonymous_variant	6929	exon15			GCCCAGTGACATG	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1302A>G	19.37:g.1619339T>C		0	0		25	23	NM_003200	0	0	0	0	0	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			T|0.403;C|0.597		0.746	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200	
KLF16	83855	hgsc.bcm.edu	37	19	1854557	1854557	+	Silent	SNP	A	A	G	rs3746045	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr19:1854557A>G	ENST00000250916.4	-	2	730	c.660T>C	c.(658-660)ccT>ccC	p.P220P	CTB-31O20.6_ENST00000592884.1_RNA|KLF16_ENST00000592313.1_5'UTR	NM_031918.3	NP_114124.1	Q9BXK1	KLF16_HUMAN	Kruppel-like factor 16	220	Pro/Ser-rich.				dopamine receptor signaling pathway (GO:0007212)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			lung(1)	1		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGGGCACCAGGGCGCCGGA	0.756													A|||	2119	0.423123	0.6785	0.4611	5008	,	,		10654	0.3829		0.2177	False		,,,				2504	0.3037				p.P220P		.											.	KLF16-90	0			c.T660C						.	A		2319,1817		694,931,443	10.0	16.0	14.0		660	-6.7	0.2	19	dbSNP_107	14	1682,6356		211,1260,2548	no	coding-synonymous	KLF16	NM_031918.3		905,2191,2991	GG,GA,AA		20.9256,43.9313,32.8651		220/253	1854557	4001,8173	2068	4019	6087	SO:0001819	synonymous_variant	83855	exon2			GGCACCAGGGCGC	AF327440	CCDS12075.1	19p13.3	2013-10-15			ENSG00000129911	ENSG00000129911		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16857	protein-coding gene	gene with protein product		606139				11438660	Standard	NM_031918		Approved	NSLP2, BTEB4, DRRF	uc002luc.3	Q9BXK1	OTTHUMG00000179994	ENST00000250916.4:c.660T>C	19.37:g.1854557A>G		3	0		18	17	NM_031918	0	0	0	1	1		Silent	SNP	ENST00000250916.4	37	CCDS12075.1																																																																																			A|0.591;G|0.409		0.756	KLF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449214.1		
LINGO3	645191	bcgsc.ca	37	19	2290132	2290132	+	Silent	SNP	C	C	T			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr19:2290132C>T	ENST00000585527.1	-	1	1891	c.1644G>A	c.(1642-1644)ctG>ctA	p.L548L	LINGO3_ENST00000404279.1_Silent_p.L548L			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	548						integral component of membrane (GO:0016021)				lung(1)|urinary_tract(1)	2						ACACGAACAGCAGCACGAAGC	0.687																																					p.L548L		.											.	.	0			c.G1644A						.						19.0	24.0	23.0					19																	2290132		2035	4204	6239	SO:0001819	synonymous_variant	645191	exon2			GAACAGCAGCACG	AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"""Immunoglobulin superfamily / I-set domain containing"""	21206	protein-coding gene	gene with protein product		609792	"""leucine rich repeat neuronal 6B"""	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.1644G>A	19.37:g.2290132C>T		141	3		156	105	NM_001101391	0	0	0	0	0		Silent	SNP	ENST00000585527.1	37	CCDS45905.1																																																																																			.		0.687	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451291.2	NM_001101391	
CACTIN	58509	hgsc.bcm.edu	37	19	3613346	3613346	+	Missense_Mutation	SNP	G	G	A	rs2074789	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr19:3613346G>A	ENST00000429344.2	-	9	1548	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	CACTIN_ENST00000221899.3_Missense_Mutation_p.A431V|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000248420.5_Missense_Mutation_p.A499V	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	499				A -> V (in Ref. 4; AAH19848). {ECO:0000305}.	cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										GGTGGGCGCCGCGTCCTCAGG	0.781													G|||	2156	0.430511	0.3018	0.6037	5008	,	,		8769	0.3294		0.5795	False		,,,				2504	0.4325				p.A499V		.											.	.	0			c.C1496T						.	G	VAL/ALA,VAL/ALA	1466,1576		408,650,463	4.0	5.0	5.0		1496,1496	-5.6	0.0	19	dbSNP_96	5	4326,2414		1492,1342,536	yes	missense,missense	C19orf29	NM_001080543.1,NM_021231.1	64,64	1900,1992,999	AA,AG,GG		35.816,48.192,40.7892	benign,benign	499/759,499/759	3613346	5792,3990	1521	3370	4891	SO:0001583	missense	58509	exon9			GGCGCCGCGTCCT	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.1496C>T	19.37:g.3613346G>A	ENSP00000415078:p.Ala499Val	0	0		6	5	NM_021231	0	0	0	1	1	A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	CCDS45920.1	1016|1016	0.4652014652014652|0.4652014652014652	166|166	0.33739837398373984|0.33739837398373984	219|219	0.6049723756906077|0.6049723756906077	189|189	0.3304195804195804|0.3304195804195804	442|442	0.58311345646438|0.58311345646438	G|G	10.30|10.30	1.311266|1.311266	0.23821|0.23821	0.48192|0.48192	0.64184|0.64184	ENSG00000105298|ENSG00000226800	ENST00000429344;ENST00000248420;ENST00000221899|ENST00000447295	.|.	.|.	.|.	3.38|3.38	-5.6|-5.6	0.02497|0.02497	.|.	2.059910|.	0.01925|.	N|.	0.040837|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.08118|0.08118	0|0	0.80722|0.80722	P|P	0.0|0.0	B;B|.	0.26602|.	0.116;0.154|.	B;B|.	0.18561|.	0.022;0.004|.	T|T	0.46952|0.46952	-0.9154|-0.9154	8|4	0.30078|.	T|.	0.28|.	.|.	0.7428|0.7428	0.00977|0.00977	0.2199:0.145:0.1962:0.4388|0.2199:0.145:0.1962:0.4388	rs2074789;rs11557007|rs2074789;rs11557007	499;499|.	Q8WUQ7-2;Q8WUQ7|.	.;CS029_HUMAN|.	V|H	499;499;431|325	.|.	ENSP00000221899:A431V|.	A|R	-|+	2|2	0|0	C19orf29|C19orf29OS	3564346|3564346	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.007000|0.007000	0.05969|0.05969	-1.122000|-1.122000	0.03267|0.03267	-0.535000|-0.535000	0.06307|0.06307	-0.258000|-0.258000	0.10820|0.10820	GCG|CGC	G|0.535;A|0.465		0.781	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2		
ANKRD24	170961	hgsc.bcm.edu	37	19	4217956	4217956	+	Silent	SNP	A	A	G	rs6510794	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr19:4217956A>G	ENST00000600132.1	+	18	3075	c.2799A>G	c.(2797-2799)gcA>gcG	p.A933A	ANKRD24_ENST00000262970.5_Silent_p.A1023A|ANKRD24_ENST00000318934.4_Silent_p.A933A	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	933										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGGGCCGGGCAGCCAGTCTGG	0.766													G|||	2256	0.450479	0.5166	0.4164	5008	,	,		6898	0.4692		0.4751	False		,,,				2504	0.3405				p.A933A		.											.	ANKRD24-68	0			c.A2799G						.	G		1357,2019		337,683,668	3.0	6.0	5.0		2799	0.3	1.0	19	dbSNP_116	5	2607,4473		599,1409,1532	no	coding-synonymous	ANKRD24	NM_133475.1		936,2092,2200	GG,GA,AA		36.822,40.1955,37.9112		933/1147	4217956	3964,6492	1688	3540	5228	SO:0001819	synonymous_variant	170961	exon18			CCGGGCAGCCAGT	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.2799A>G	19.37:g.4217956A>G		0	0		11	11	NM_133475	0	0	0	1	1	O75268|O95781	Silent	SNP	ENST00000600132.1	37	CCDS45925.1																																																																																			A|0.541;G|0.459		0.766	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000	
MAP1S	55201	hgsc.bcm.edu	37	19	17837417	17837417	+	Silent	SNP	G	G	A	rs138676223	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr19:17837417G>A	ENST00000324096.4	+	5	1375	c.1224G>A	c.(1222-1224)acG>acA	p.T408T	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.T382T	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	408	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCGAGCGCACGCTGGCCTCTG	0.736													G|||	45	0.00898562	0.0015	0.0144	5008	,	,		12480	0.0		0.0268	False		,,,				2504	0.0061				p.T408T		.											.	MAP1S-90	0			c.G1224A						.	G		21,4095		0,21,2037	5.0	5.0	5.0		1224	-2.1	0.0	19	dbSNP_134	5	121,7915		1,119,3898	no	coding-synonymous	MAP1S	NM_018174.4		1,140,5935	AA,AG,GG		1.5057,0.5102,1.1685		408/1060	17837417	142,12010	2058	4018	6076	SO:0001819	synonymous_variant	55201	exon5			GCGCACGCTGGCC	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1224G>A	19.37:g.17837417G>A		0	0		27	25	NM_018174	0	0	0	6	6	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	CCDS32954.1																																																																																			G|0.987;A|0.013		0.736	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174	
DMWD	1762	broad.mit.edu	37	19	46289396	46289396	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr19:46289396T>G	ENST00000270223.6	-	3	1403	c.1358A>C	c.(1357-1359)cAc>cCc	p.H453P	DMWD_ENST00000377735.3_Missense_Mutation_p.H453P|DMWD_ENST00000601370.1_5'Flank|AC011530.4_ENST00000593999.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	453										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CAGGGGGGGGTGCGGGTAGAG	0.711																																					p.H453P		.											.	DMWD-90	0			c.A1358C						.						5.0	6.0	6.0					19																	46289396		2081	4094	6175	SO:0001583	missense	1762	exon3			GGGGGGTGCGGGT	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1358A>C	19.37:g.46289396T>G	ENSP00000270223:p.His453Pro	79	3		161	39	NM_004943	0	0	0	0	0		Missense_Mutation	SNP	ENST00000270223.6	37	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.738941	0.30774	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.58506	0.33;0.33	4.12	2.02	0.26589	.	0.136335	0.49916	D	0.000126	T	0.42944	0.1225	L	0.42245	1.32	0.40057	D	0.975844	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.09377	0.001;0.004;0.002	T	0.30238	-0.9985	10	0.39692	T	0.17	-34.1134	5.3843	0.16211	0.0:0.1001:0.1807:0.7191	.	138;453;453	Q8WUW6;G5E9A7;Q09019	.;.;DMWD_HUMAN	P	453	ENSP00000366964:H453P;ENSP00000270223:H453P	ENSP00000270223:H453P	H	-	2	0	DMWD	50981236	1.000000	0.71417	0.824000	0.32777	0.083000	0.17756	0.976000	0.29462	0.745000	0.32763	-0.527000	0.04329	CAC	.		0.711	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943	
RASIP1	54922	hgsc.bcm.edu	37	19	49232226	49232226	+	Missense_Mutation	SNP	G	G	A	rs2287922	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr19:49232226G>A	ENST00000222145.4	-	5	2005	c.1801C>T	c.(1801-1803)Cgc>Tgc	p.R601C	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	601	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.		R -> C (in dbSNP:rs2287922). {ECO:0000269|PubMed:15031288}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CGGGCCAGGCGGCCCAGCAGT	0.731													G|||	1076	0.214856	0.1157	0.2997	5008	,	,		8786	0.0198		0.4791	False		,,,				2504	0.2178				p.R601C		.											.	RASIP1-228	0			c.C1801T						.	G	CYS/ARG	456,2624		82,292,1166	2.0	3.0	3.0		1801	4.2	1.0	19	dbSNP_100	3	2661,3381		645,1371,1005	yes	missense	RASIP1	NM_017805.2	180	727,1663,2171	AA,AG,GG		44.0417,14.8052,34.1701	probably-damaging	601/964	49232226	3117,6005	1540	3021	4561	SO:0001583	missense	54922	exon5			CCAGGCGGCCCAG	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1801C>T	19.37:g.49232226G>A	ENSP00000222145:p.Arg601Cys	0	0		10	4	NM_017805	0	0	3	8	5	Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	CCDS12731.1	571	0.26144688644688646	65	0.13211382113821138	127	0.35082872928176795	21	0.03671328671328671	358	0.47229551451187335	G	17.28	3.350878	0.61183	0.148052	0.440417	ENSG00000105538	ENST00000222145	T	0.27557	1.66	4.17	4.17	0.49024	Dilute (1);	0.331247	0.23983	N	0.042644	T	0.00012	0.0000	L	0.39898	1.24	0.22701	P	0.99883638	D	0.76494	0.999	P	0.54590	0.756	T	0.48328	-0.9045	9	0.66056	D	0.02	-0.9078	9.7493	0.40466	0.0:0.0:0.7933:0.2067	rs2287922	601	Q5U651	RAIN_HUMAN	C	601	ENSP00000222145:R601C	ENSP00000222145:R601C	R	-	1	0	RASIP1	53924038	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.181000	0.50903	2.023000	0.59567	0.462000	0.41574	CGC	G|0.738;A|0.262		0.731	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805	
PRR12	57479	hgsc.bcm.edu	37	19	50104897	50104897	+	Missense_Mutation	SNP	C	C	T	rs189937355	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr19:50104897C>T	ENST00000418929.2	+	6	4507	c.4495C>T	c.(4495-4497)Ccg>Tcg	p.P1499S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		accaccgccaccgccgctgcc	0.771													c|||	32	0.00638978	0.0008	0.0043	5008	,	,		6634	0.0		0.0249	False		,,,				2504	0.0031				p.P1499S		.											.	PRR12-70	0			c.C4495T						.	C	SER/PRO	12,2760		0,12,1374	2.0	4.0	3.0		4495	3.2	0.0	19		3	134,6078		1,132,2973	no	missense	PRR12	NM_020719.1	74	1,144,4347	TT,TC,CC		2.1571,0.4329,1.6251	benign	1499/2037	50104897	146,8838	1386	3106	4492	SO:0001583	missense	57479	exon6			CCGCCACCGCCGC	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.4495C>T	19.37:g.50104897C>T	ENSP00000394510:p.Pro1499Ser	0	0		7	7	NM_020719	0	0	0	4	4	E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	CCDS46143.1	30	0.013736263736263736	0	0.0	5	0.013812154696132596	0	0.0	25	0.032981530343007916	c	6.729	0.503296	0.12822	0.004329	0.021571	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	3.24	3.24	0.37175	.	.	.	.	.	T	0.09247	0.0228	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.05989	-1.0852	7	0.30078	T	0.28	.	5.0687	0.14594	0.0:0.7427:0.0:0.2573	.	1499	Q9ULL5-3	.	S	1499;679;679	.	ENSP00000246798:P679S	P	+	1	0	PRR12	54796709	0.005000	0.15991	0.005000	0.12908	0.003000	0.03518	-0.209000	0.09358	1.642000	0.50584	0.313000	0.20887	CCG	C|0.986;T|0.014		0.771	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719	
SHANK1	50944	hgsc.bcm.edu	37	19	51171188	51171188	+	Silent	SNP	G	G	A	rs750578	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr19:51171188G>A	ENST00000293441.1	-	22	4047	c.4029C>T	c.(4027-4029)acC>acT	p.T1343T	SHANK1_ENST00000359082.3_Silent_p.T1334T|SHANK1_ENST00000391814.1_Silent_p.T1351T|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Silent_p.T730T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1343					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGCCTTGCCGGTCAGCGGGT	0.786													g|||	1533	0.30611	0.0484	0.5576	5008	,	,		7768	0.3185		0.4364	False		,,,				2504	0.3292				p.T1343T		.											.	SHANK1-153	0			c.C4029T						.			167,1995		14,139,928	2.0	2.0	2.0		4029	1.5	1.0	19	dbSNP_86	2	1560,3624		219,1122,1251	no	coding-synonymous	SHANK1	NM_016148.2		233,1261,2179	AA,AG,GG		30.0926,7.7243,23.5094		1343/2162	51171188	1727,5619	1081	2592	3673	SO:0001819	synonymous_variant	50944	exon22			CTTGCCGGTCAGC	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.4029C>T	19.37:g.51171188G>A		0	0		6	6	NM_016148	0	0	0	0	0	A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	CCDS12799.1																																																																																			G|0.661;A|0.339		0.786	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
KLK14	43847	bcgsc.ca	37	19	51584951	51584951	+	Missense_Mutation	SNP	T	T	C	rs35287116	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr19:51584951T>C	ENST00000156499.2	-	4	316	c.98A>G	c.(97-99)cAg>cGg	p.Q33R	KLK14_ENST00000391802.1_Missense_Mutation_p.Q33R			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	33			Q -> R (in dbSNP:rs35287116). {ECO:0000269|PubMed:15489334}.		epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CTCTTGGCTCTGTGTCATGGC	0.567													N|||	2074	0.414137	0.6717	0.2781	5008	,	,		17406	0.0952		0.3966	False		,,,				2504	0.5092				p.Q33R	GBM(117;2161 2172 2448 22911)	.											.	KLK14-226	0			c.A98G						.		ARG/GLN	2268,1724		697,874,425	32.0	33.0	33.0		98	3.5	0.8	19	dbSNP_126	33	3132,5144		653,1826,1659	yes	missense	KLK14	NM_022046.4	43	1350,2700,2084	CC,CT,TT		37.8444,43.1864,44.017	benign	33/268	51584951	5400,6868	1996	4138	6134	SO:0001583	missense	43847	exon4			TGGCTCTGTGTCA	AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437		"""Kallikreins"""	6362	protein-coding gene	gene with protein product		606135	"""kallikrein 14"""			16800724, 16800723	Standard	XM_006723224		Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.98A>G	19.37:g.51584951T>C	ENSP00000156499:p.Gln33Arg	97	1		111	5	NM_022046	0	0	0	0	0	A7UNK5|Q1RMZ2|Q6B089	Missense_Mutation	SNP	ENST00000156499.2	37	CCDS12823.2	747	0.34203296703296704	302	0.6138211382113821	111	0.30662983425414364	43	0.07517482517482517	291	0.3839050131926121	.	10.13	1.264708	0.23136	0.568136	0.378444	ENSG00000129437	ENST00000156499;ENST00000391802	D;D	0.92752	-3.1;-3.1	4.57	3.55	0.40652	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.48830	P	2.8600000000000847E-4	B	0.13145	0.007	B	0.09377	0.004	T	0.47923	-0.9079	8	0.23891	T	0.37	.	8.7263	0.34471	0.0:0.1015:0.0:0.8985	rs35287116;rs61747483	33	Q9P0G3	KLK14_HUMAN	R	33	ENSP00000156499:Q33R;ENSP00000375678:Q33R	ENSP00000156499:Q33R	Q	-	2	0	KLK14	56276763	0.590000	0.26815	0.771000	0.31576	0.682000	0.39822	0.745000	0.26259	0.373000	0.24621	-1.351000	0.01236	CAG	T|0.653;C|0.347		0.567	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289774.2	NM_022046	
MZF1	7593	hgsc.bcm.edu	37	19	59074028	59074081	+	In_Frame_Del	DEL	CGCTCGCCACTGTGCACGCGCCGGTGCTGCAGCAGCACTGAGCGGCGGCCGAAG	CGCTCGCCACTGTGCACGCGCCGGTGCTGCAGCAGCACTGAGCGGCGGCCGAAG	-	rs77462122|rs61731801|rs368446779	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	CGCTCGCCACTGTGCACGCGCCGGTGCTGCAGCAGCACTGAGCGGCGGCCGAAG	CGCTCGCCACTGTGCACGCGCCGGTGCTGCAGCAGCACTGAGCGGCGGCCGAAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr19:59074028_59074081delCGCTCGCCACTGTGCACGCGCCGGTGCTGCAGCAGCACTGAGCGGCGGCCGAAG	ENST00000215057.2	-	6	2123_2176	c.1563_1616delCTTCGGCCGCCGCTCAGTGCTGCTGCAGCACCGGCGCGTGCACAGTGGCGAGCG	c.(1561-1617)cgcttcggccgccgctcagtgctgctgcagcaccggcgcgtgcacagtggcgagcgg>cgg	p.521_539RFGRRSVLLQHRRVHSGER>R	AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000599369.1_In_Frame_Del_p.521_539RFGRRSVLLQHRRVHSGER>R|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_3'UTR	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	521					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GGCGAAGGGCCGCTCGCCACTGTGCACGCGCCGGTGCTGCAGCAGCACTGAGCGGCGGCCGAAGCGCTCGCCGC	0.732																																					p.521_539del		.											.	MZF1-91	0			c.1563_1616del						.																																			SO:0001651	inframe_deletion	7593	exon6			AAGGGCCGCTCGC	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1563_1616delCTTCGGCCGCCGCTCAGTGCTGCTGCAGCACCGGCGCGTGCACAGTGGCGAGCG	19.37:g.59074028_59074081delCGCTCGCCACTGTGCACGCGCCGGTGCTGCAGCAGCACTGAGCGGCGGCCGAAG	ENSP00000215057:p.Arg521_Glu538del	2	0		23	0	NM_198055	0	0	0	0	0	M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	In_Frame_Del	DEL	ENST00000215057.2	37	CCDS12988.1																																																																																			.		0.732	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055	
TPO	7173	hgsc.bcm.edu	37	2	1481231	1481231	+	Missense_Mutation	SNP	G	G	C	rs2175977	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr2:1481231G>C	ENST00000345913.4	+	8	1284	c.1193G>C	c.(1192-1194)aGc>aCc	p.S398T	TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.S398T|TPO_ENST00000329066.4_Missense_Mutation_p.S398T|TPO_ENST00000382201.3_Missense_Mutation_p.S398T|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.S398T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	398			S -> T (in dbSNP:rs2175977). {ECO:0000269|PubMed:7550241}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCGCCAGCGAGGTCCCC	0.761													G|||	3557	0.710264	0.8185	0.6571	5008	,	,		9157	0.7758		0.6034	False		,,,				2504	0.6442				p.S398T		.											.	TPO-332	0			c.G1193C						.	G	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,	2498,394		1072,354,20	2.0	2.0	2.0		1193,1193,1193,1193,1193,	4.1	1.0	2	dbSNP_96	2	4199,1477		1511,1177,150	no	missense,missense,missense,missense,missense,intron	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	58,58,58,58,58,	2583,1531,170	CC,CG,GG		26.0218,13.6238,21.8371	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	398/934,398/934,398/877,398/877,398/890,	1481231	6697,1871	1446	2838	4284	SO:0001583	missense	7173	exon8			GCGCCAGCGAGGT		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1193G>C	2.37:g.1481231G>C	ENSP00000318820:p.Ser398Thr	0	0		11	11	NM_175719	0	0	0	0	0	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	1512|1512	0.6923076923076923|0.6923076923076923	388|388	0.7886178861788617|0.7886178861788617	227|227	0.6270718232044199|0.6270718232044199	438|438	0.7657342657342657|0.7657342657342657	459|459	0.6055408970976254|0.6055408970976254	G|G	18.72|18.72	3.683431|3.683431	0.68157|0.68157	0.863762|0.863762	0.739782|0.739782	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	.|T;T;T;T;T;T	.|0.73897	.|-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.99|4.99	4.08|4.08	0.47627|0.47627	.|.	.|0.142496	.|0.64402	.|N	.|0.000004	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	P|P	1.0|1.0	.|D;D;D	.|0.76494	.|0.998;0.998;0.999	.|D;D;D	.|0.69654	.|0.956;0.94;0.965	T|T	0.30060|0.30060	-0.9991|-0.9991	5|9	0.48119|0.56958	T|D	0.1|0.05	-48.0867|-48.0867	8.6411|8.6411	0.33978|0.33978	0.08:0.1541:0.7659:0.0|0.08:0.1541:0.7659:0.0	rs2175977|rs2175977	.|398;398;398	.|P07202-4;P07202-2;P07202	.|.;.;PERT_HUMAN	H|T	81|398;398;398;398;398;327	.|ENSP00000337263:S398T;ENSP00000318820:S398T;ENSP00000263886:S398T;ENSP00000329869:S398T;ENSP00000371636:S398T;ENSP00000405788:S327T	ENSP00000439133:Q81H|ENSP00000329869:S398T	Q|S	+|+	3|2	2|0	TPO|TPO	1460238|1460238	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.297000|1.297000	0.33400|0.33400	1.031000|1.031000	0.39867|0.39867	0.460000|0.460000	0.39030|0.39030	CAG|AGC	G|0.301;C|0.699		0.761	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	
SEMA4F	10505	hgsc.bcm.edu	37	2	74881514	74881514	+	Missense_Mutation	SNP	C	C	G	rs187477207	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr2:74881514C>G	ENST00000357877.2	+	1	160	c.11C>G	c.(10-12)tCt>tGt	p.S4C	SEMA4F_ENST00000339773.5_Missense_Mutation_p.S4C	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	4					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						ATGCCGGCCTCTGCTGCGCGG	0.766													C|||	15	0.00299521	0.0091	0.0043	5008	,	,		10437	0.0		0.0	False		,,,				2504	0.0				p.S4C		.											.	SEMA4F-93	0			c.C11G						.						2.0	3.0	3.0					2																	74881514		1646	3430	5076	SO:0001583	missense	10505	exon1			CGGCCTCTGCTGC	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.11C>G	2.37:g.74881514C>G	ENSP00000350547:p.Ser4Cys	2	0		7	7	NM_001271662	0	0	0	1	1	Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	CCDS1955.1	5	0.0022893772893772895	3	0.006097560975609756	2	0.0055248618784530384	0	0.0	0	0.0	C	8.883	0.952117	0.18431	.	.	ENSG00000135622	ENST00000357877;ENST00000339773;ENST00000434486;ENST00000453930	T;T;T;T	0.23950	2.14;1.97;1.88;1.88	4.12	-3.56	0.04626	.	4.323920	0.00649	N	0.000540	T	0.12092	0.0294	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.32161	-0.9917	10	0.87932	D	0	.	6.5317	0.22330	0.0:0.2748:0.4494:0.2758	.	4;4;4;4	B7Z931;C9K0A1;O95754-2;O95754	.;.;.;SEM4F_HUMAN	C	4	ENSP00000350547:S4C;ENSP00000342675:S4C;ENSP00000407698:S4C;ENSP00000409141:S4C	ENSP00000342675:S4C	S	+	2	0	SEMA4F	74735022	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.140000	0.10342	-0.897000	0.03910	-1.092000	0.02172	TCT	C|0.998;G|0.002		0.766	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263	
CNOT11	55571	broad.mit.edu	37	2	101869801	101869808	+	Frame_Shift_Del	DEL	CACGGCGC	CACGGCGC	-			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr2:101869801_101869808delCACGGCGC	ENST00000289382.3	+	1	538_545	c.375_382delCACGGCGC	c.(373-384)ctcacggcgctcfs	p.LTAL125fs	TBC1D8_ENST00000462819.1_5'Flank	NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	125					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											CGCAGCGCCTCACGGCGCTCTACCTGCT	0.716																																					p.125_128del		.											.	.	0			c.375_382del						.																																			SO:0001589	frameshift_variant	55571	exon1			GCGCCTCACGGCG	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.375_382delCACGGCGC	2.37:g.101869801_101869808delCACGGCGC	ENSP00000289382:p.Leu125fs	10	0		39	20	NM_017546	0	0	0	0	0	Q6P2M9|Q8N681	Frame_Shift_Del	DEL	ENST00000289382.3	37	CCDS2050.1																																																																																			.		0.716	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546	
CNOT11	55571	hgsc.bcm.edu	37	2	101869801	101869810	+	Frame_Shift_Del	DEL	CACGGCGCTC	CACGGCGCTC	-			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	CACGGCGCTC	CACGGCGCTC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr2:101869801_101869810delCACGGCGCTC	ENST00000289382.3	+	1	538_547	c.375_384delCACGGCGCTC	c.(373-384)ctcacggcgctcfs	p.LTAL125fs	TBC1D8_ENST00000462819.1_5'Flank	NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	125					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											CGCAGCGCCTCACGGCGCTCTACCTGCTCT	0.719																																					p.125_128del		.											.	.	0			c.375_384del						.																																			SO:0001589	frameshift_variant	55571	exon1			GCGCCTCACGGCG	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.375_384delCACGGCGCTC	2.37:g.101869801_101869810delCACGGCGCTC	ENSP00000289382:p.Leu125fs	10	0		39	0	NM_017546	0	0	0	0	0	Q6P2M9|Q8N681	Frame_Shift_Del	DEL	ENST00000289382.3	37	CCDS2050.1																																																																																			.		0.719	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546	
CNOT11	55571	broad.mit.edu	37	2	101869810	101869810	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr2:101869810delC	ENST00000289382.3	+	1	547	c.384delC	c.(382-384)ctcfs	p.L128fs	TBC1D8_ENST00000462819.1_5'Flank	NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	128					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											TCACGGCGCTCTACCTGCTCT	0.726																																					p.L128fs		.											.	.	0			c.384delC						.						10.0	11.0	10.0					2																	101869810		2164	4247	6411	SO:0001589	frameshift_variant	55571	exon1			GGCGCTCTACCTG	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.384delC	2.37:g.101869810delC	ENSP00000289382:p.Leu128fs	6	0		36	19	NM_017546	0	0	0	0	0	Q6P2M9|Q8N681	Frame_Shift_Del	DEL	ENST00000289382.3	37	CCDS2050.1																																																																																			.		0.726	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546	
UGGT1	56886	bcgsc.ca	37	2	128934400	128934400	+	Silent	SNP	T	T	C	rs2290111	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr2:128934400T>C	ENST00000259253.6	+	32	3599	c.3552T>C	c.(3550-3552)acT>acC	p.T1184T	UGGT1_ENST00000375990.3_Silent_p.T1160T	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1184					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACGATGGCACTGATTCTCCCC	0.418													C|||	3327	0.664337	0.9622	0.5418	5008	,	,		22234	0.4127		0.5855	False		,,,				2504	0.6892				p.T1184T		.											.	UGGT1-91	0			c.T3552C						.	C		3992,414	204.1+/-226.4	1809,374,20	184.0	175.0	178.0		3552	0.2	0.9	2	dbSNP_100	178	5104,3496	511.4+/-377.7	1512,2080,708	no	coding-synonymous	UGGT1	NM_020120.3		3321,2454,728	CC,CT,TT		40.6512,9.3963,30.063		1184/1556	128934400	9096,3910	2203	4300	6503	SO:0001819	synonymous_variant	56886	exon32			TGGCACTGATTCT	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3552T>C	2.37:g.128934400T>C		188	0		170	6	NM_020120	0	0	0	0	0	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	CCDS2154.1																																																																																			T|0.323;C|0.677		0.418	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	
OBSL1	23363	hgsc.bcm.edu	37	2	220435375	220435375	+	Silent	SNP	G	G	A	rs1061399	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr2:220435375G>A	ENST00000404537.1	-	1	636	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	OBSL1_ENST00000373876.1_Silent_p.L194L|OBSL1_ENST00000265318.4_Silent_p.L194L|OBSL1_ENST00000491370.1_Intron|INHA_ENST00000243786.2_5'Flank|OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000373873.4_Silent_p.L194L|OBSL1_ENST00000603926.1_Silent_p.L194L|INHA_ENST00000489456.1_Intron	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	194	Ig-like 2.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGGATGCGCAGTGCCAGGCTC	0.746													G|||	1797	0.358826	0.1331	0.3242	5008	,	,		9816	0.5069		0.4632	False		,,,				2504	0.4284				p.L194L		.											.	OBSL1-71	0			c.C580T						.	G	,,	373,2241		59,255,993	2.0	3.0	3.0		580,580,580	2.9	1.0	2	dbSNP_86	3	2075,3541		472,1131,1205	no	coding-synonymous,coding-synonymous,coding-synonymous	OBSL1	NM_001173408.1,NM_001173431.1,NM_015311.2	,,	531,1386,2198	AA,AG,GG		36.948,14.2693,29.7448	,,	194/1026,194/1544,194/1897	220435375	2448,5782	1307	2808	4115	SO:0001819	synonymous_variant	23363	exon1			TGCGCAGTGCCAG	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.580C>T	2.37:g.220435375G>A		0	0		7	7	NM_001173431	0	0	0	13	13	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	CCDS46520.1																																																																																			G|0.621;A|0.379		0.746	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1		
KIF1A	547	hgsc.bcm.edu	37	2	241696843	241696843	+	Intron	SNP	C	C	A	rs537608637|rs10594016|rs533559120		TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr2:241696843C>A	ENST00000320389.7	-	25	2714				KIF1A_ENST00000498729.2_Missense_Mutation_p.E917D	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A						anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		cctcctcatcctcctcctcct	0.682													C|||	1	0.000199681	0.0	0.0014	5008	,	,		8551	0.0		0.0	False		,,,				2504	0.0				p.E917D		.											.	KIF1A-91	0			c.G2751T						.																																			SO:0001627	intron_variant	547	exon27			CTCATCCTCCTCC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2555+933G>T	2.37:g.241696843C>A		181	0		125	8	NM_001244008	0	0	1	1	0	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	8.327	0.825706	0.16749	.	.	ENSG00000130294	ENST00000498729;ENST00000373308;ENST00000404283	T;T	0.73047	-0.63;-0.71	4.04	3.16	0.36331	.	.	.	.	.	T	0.50429	0.1615	.	.	.	0.27599	N	0.949023	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.21690	-1.0238	8	0.08381	T	0.77	.	12.6857	0.56946	0.1669:0.833:0.0:0.0	.	917;917	F5H045;Q12756-2	.;.	D	917	ENSP00000438388:E917D;ENSP00000384231:E917D	ENSP00000362405:E917D	E	-	3	2	KIF1A	241345516	0.997000	0.39634	0.999000	0.59377	0.888000	0.51559	0.203000	0.17315	0.685000	0.31468	-0.372000	0.07161	GAG	.		0.682	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483	
PANK2	80025	hgsc.bcm.edu	37	20	3870124	3870124	+	Missense_Mutation	SNP	G	G	C	rs3737084	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr20:3870124G>C	ENST00000316562.4	+	1	383	c.377G>C	c.(376-378)gGg>gCg	p.G126A	PANK2_ENST00000610179.1_Missense_Mutation_p.G3A|PANK2_ENST00000497424.1_Intron|RP11-119B16.2_ENST00000451507.1_RNA	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	126			G -> A (in dbSNP:rs3737084). {ECO:0000269|PubMed:11479594, ECO:0000269|PubMed:12554685, ECO:0000269|Ref.3}.		aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGGATGGGAGGGGGCCGGCTC	0.766													C|||	4403	0.879193	0.9939	0.9323	5008	,	,		9294	0.7946		0.8757	False		,,,				2504	0.7771				p.G126A		.											.	PANK2-115	0			c.G377C						.		,ALA/GLY	3009,53		1478,53,0	2.0	3.0	3.0		,377	4.7	1.0	20	dbSNP_107	3	6120,564		2797,526,19	no	intron,missense	PANK2	NM_024960.4,NM_153638.2	,60	4275,579,19	CC,CG,GG		8.4381,1.7309,6.3308	,benign	,126/571	3870124	9129,617	1531	3342	4873	SO:0001583	missense	80025	exon1			TGGGAGGGGGCCG	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.377G>C	20.37:g.3870124G>C	ENSP00000313377:p.Gly126Ala	0	0		8	8	NM_153638	0	0	0	0	0	B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	37	CCDS13071.2	1920	0.8791208791208791	489	0.9939024390243902	334	0.9226519337016574	438	0.7657342657342657	659	0.8693931398416886	C	8.681	0.905209	0.17760	0.982691	0.915619	ENSG00000125779	ENST00000316562	D	0.96265	-3.96	4.73	4.73	0.59995	.	0.504726	0.16798	N	0.199120	T	0.00012	0.0000	N	0.08118	0	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.41574	-0.9501	9	0.02654	T	1	.	11.198	0.48724	0.0:0.8144:0.1856:0.0	rs3737084	126	Q9BZ23	PANK2_HUMAN	A	126	ENSP00000313377:G126A	ENSP00000313377:G126A	G	+	2	0	PANK2	3818124	0.994000	0.37717	0.990000	0.47175	0.991000	0.79684	1.019000	0.30014	1.369000	0.46134	-0.164000	0.13417	GGG	G|0.122;C|0.878		0.766	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960	
RPN2	6185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	35838497	35838497	+	Silent	SNP	T	T	G			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr20:35838497T>G	ENST00000237530.6	+	8	1226	c.915T>G	c.(913-915)gtT>gtG	p.V305V	RPN2_ENST00000373622.5_Silent_p.V273V	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	305					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				AGGCCACTGTTAAACTAGAAC	0.438																																					p.V305V		.											.	RPN2-93	0			c.T915G						.						101.0	91.0	94.0					20																	35838497		2203	4300	6503	SO:0001819	synonymous_variant	6185	exon8			CACTGTTAAACTA	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.915T>G	20.37:g.35838497T>G		61	0		43	8	NM_002951	0	0	97	140	43	Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Silent	SNP	ENST00000237530.6	37	CCDS13291.1																																																																																			.		0.438	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951	
PREX1	57580	bcgsc.ca	37	20	47269233	47269233	+	Missense_Mutation	SNP	C	C	G	rs41283558	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr20:47269233C>G	ENST00000371941.3	-	21	2380	c.2358G>C	c.(2356-2358)caG>caC	p.Q786H	PREX1_ENST00000396220.1_Missense_Mutation_p.Q786H	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	786			Q -> H (in dbSNP:rs41283558). {ECO:0000269|PubMed:17974005}.		actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGTAGATCCACTGGTACAGGC	0.652													C|||	749	0.149561	0.0197	0.2118	5008	,	,		15382	0.1468		0.1849	False		,,,				2504	0.2474				p.Q786H		.											.	PREX1-231	0			c.G2358C						.	C	HIS/GLN	250,4156	144.2+/-179.2	10,230,1963	58.0	47.0	51.0		2358	3.6	1.0	20	dbSNP_127	51	1623,6977	299.4+/-304.4	148,1327,2825	yes	missense	PREX1	NM_020820.3	24	158,1557,4788	GG,GC,CC		18.8721,5.6741,14.401	benign	786/1660	47269233	1873,11133	2203	4300	6503	SO:0001583	missense	57580	exon21			GATCCACTGGTAC	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2358G>C	20.37:g.47269233C>G	ENSP00000361009:p.Gln786His	117	0		101	5	NM_020820	0	0	0	0	0	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	310	0.14194139194139194	13	0.026422764227642278	81	0.22375690607734808	81	0.14160839160839161	135	0.17810026385224276	C	13.41	2.228164	0.39399	0.056741	0.188721	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.41758	0.99;0.99	4.5	3.56	0.40772	PDZ/DHR/GLGF (1);	0.117523	0.37219	N	0.002182	T	0.00039	0.0001	L	0.50333	1.59	0.21675	P	0.999593756	B;B	0.16603	0.009;0.018	B;B	0.21546	0.019;0.035	T	0.09122	-1.0689	9	0.36615	T	0.2	.	13.9532	0.64131	0.1531:0.8469:0.0:0.0	rs41283558	786;83	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	H	786	ENSP00000361009:Q786H;ENSP00000379522:Q786H	ENSP00000361009:Q786H	Q	-	3	2	PREX1	46702640	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	3.347000	0.52200	0.893000	0.36288	-0.224000	0.12420	CAG	C|0.851;G|0.149		0.652	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
TRIOBP	11078	hgsc.bcm.edu	37	22	38122462	38122462	+	Missense_Mutation	SNP	A	A	G	rs739138	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr22:38122462A>G	ENST00000406386.3	+	7	4154	c.3899A>G	c.(3898-3900)cAc>cGc	p.H1300R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1300			H -> R (in dbSNP:rs739138).		actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGCCGCACCCACAGCCCTGGC	0.741													G|||	3010	0.601038	0.1944	0.5836	5008	,	,		13399	0.8859		0.7157	False		,,,				2504	0.7515				p.H1300R		.											.	TRIOBP-136	0			c.A3899G						.	G	ARG/HIS	1221,2235		265,691,772	4.0	6.0	5.0		3899	3.9	1.0	22	dbSNP_86	5	5694,1808		2238,1218,295	yes	missense	TRIOBP	NM_001039141.2	29	2503,1909,1067	GG,GA,AA		24.1002,35.3299,36.8954	benign	1300/2366	38122462	6915,4043	1728	3751	5479	SO:0001583	missense	11078	exon7			GCACCCACAGCCC	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3899A>G	22.37:g.38122462A>G	ENSP00000384312:p.His1300Arg	0	0		22	22	NM_001039141	0	0	0	0	0	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	1409	0.6451465201465202	110	0.22357723577235772	222	0.6132596685082873	531	0.9283216783216783	546	0.7203166226912929	G	12.86	2.065195	0.36470	0.353299	0.758998	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.11063	2.81	4.93	3.9	0.45041	.	.	.	.	.	T	0.00012	0.0000	N	0.01576	-0.805	0.09310	P	0.999999999370294	B	0.02656	0.0	B	0.01281	0.0	T	0.29671	-1.0004	8	0.02654	T	1	.	4.383	0.11304	0.2555:0.0:0.5874:0.1571	rs739138	1300	Q9H2D6	TARA_HUMAN	R	1300	ENSP00000384312:H1300R	ENSP00000384312:H1300R	H	+	2	0	TRIOBP	36452408	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.338000	0.33873	0.503000	0.28060	-0.366000	0.07423	CAC	A|0.354;G|0.646		0.741	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
PRR34	55267	hgsc.bcm.edu	37	22	46449891	46449891	+	Missense_Mutation	SNP	G	G	A	rs12159707	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr22:46449891G>A	ENST00000396008.2	-	1	133	c.83C>T	c.(82-84)cCc>cTc	p.P28L	C22orf26_ENST00000333761.1_Missense_Mutation_p.P28L|RP6-109B7.3_ENST00000445441.1_RNA|RP6-109B7.5_ENST00000608644.1_RNA|RP6-109B7.3_ENST00000416202.1_RNA|RP6-109B7.2_ENST00000439423.1_lincRNA|FLJ27365_ENST00000381051.2_Intron|RP6-109B7.3_ENST00000451166.1_RNA			Q9NV39	PRR34_HUMAN		28	Pro-rich.		P -> L (in dbSNP:rs12159707).										Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.0784)|LUAD - Lung adenocarcinoma(64;0.247)		TGCGGGGTTGGGGGGGGAGGT	0.746													G|||	1079	0.215455	0.2723	0.2723	5008	,	,		6433	0.0278		0.33	False		,,,				2504	0.1738				p.P28L		.											.	C22orf26-90	0			c.C83T						.	G	LEU/PRO	1414,2432		349,716,858	5.0	5.0	5.0		83	0.7	0.0	22	dbSNP_120	5	2591,5181		546,1499,1841	no	missense	C22orf26	NM_018280.2	98	895,2215,2699	AA,AG,GG		33.3376,36.7655,34.4724	probably-damaging	28/139	46449891	4005,7613	1923	3886	5809	SO:0001583	missense	55267	exon1			GGGTTGGGGGGGG																												ENST00000396008.2:c.83C>T	22.37:g.46449891G>A	ENSP00000379329:p.Pro28Leu	0	0		10	7	NM_018280	0	0	0	0	0	B0QZ24	Missense_Mutation	SNP	ENST00000396008.2	37	CCDS14071.1	542	0.24816849816849818	155	0.3150406504065041	117	0.32320441988950277	22	0.038461538461538464	248	0.32717678100263853	G	5.153	0.213778	0.09810	0.367655	0.333376	ENSG00000182257	ENST00000396008;ENST00000333761	T;T	0.41400	1.0;1.0	0.666	0.666	0.17901	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	D	0.69078	0.997	D	0.68483	0.958	T	0.42189	-0.9466	7	0.87932	D	0	.	.	.	.	rs12159707;rs59880898	28	Q9NV39	CV026_HUMAN	L	28	ENSP00000379329:P28L;ENSP00000327764:P28L	ENSP00000327764:P28L	P	-	2	0	C22orf26	44828555	0.742000	0.28228	0.008000	0.14137	0.010000	0.07245	0.672000	0.25187	0.636000	0.30508	0.645000	0.84053	CCC	A|0.248;C|0.000;G|0.752		0.746	C22orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317994.1		
GPR62	118442	hgsc.bcm.edu	37	3	51990315	51990315	+	Missense_Mutation	SNP	A	A	G	rs28651222	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr3:51990315A>G	ENST00000322241.4	+	1	986	c.647A>G	c.(646-648)cAc>cGc	p.H216R		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	216			H -> R (in dbSNP:rs28651222). {ECO:0000269|PubMed:11165367, ECO:0000269|Ref.2, ECO:0000269|Ref.3, ECO:0000269|Ref.6}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCCCGACTCCACTCGGACTCT	0.761													G|||	4997	0.997804	1.0	0.9986	5008	,	,		8932	1.0		0.992	False		,,,				2504	0.998				p.H216R		.											.	GPR62-91	0			c.A647G						.	G	ARG/HIS	2557,1		1278,1,0	5.0	6.0	6.0		647	4.6	0.9	3	dbSNP_125	6	5606,40		2783,40,0	yes	missense	GPR62	NM_080865.3	29	4061,41,0	GG,GA,AA		0.7085,0.0391,0.4998	benign	216/369	51990315	8163,41	1279	2823	4102	SO:0001583	missense	118442	exon1			GACTCCACTCGGA	AF317653	CCDS2838.1	3p21.1	2012-08-21			ENSG00000180929	ENSG00000180929		"""GPCR / Class A : Orphans"""	13301	protein-coding gene	gene with protein product		606917				11165367	Standard	NM_080865		Approved		uc003dca.4	Q9BZJ7	OTTHUMG00000157367	ENST00000322241.4:c.647A>G	3.37:g.51990315A>G	ENSP00000319250:p.His216Arg	0	0		5	5	NM_080865	0	0	0	0	0	F1DAM4|Q5KU27	Missense_Mutation	SNP	ENST00000322241.4	37	CCDS2838.1	2178	0.9972527472527473	492	1.0	361	0.9972375690607734	572	1.0	753	0.9934036939313984	G	2.895	-0.228893	0.06022	0.999609	0.992915	ENSG00000180929	ENST00000322241	T	0.02837	4.14	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32640	N	0.005833	T	0.00012	0.0000	N	0.00135	-2.02	0.41549	P	0.011438999999999977	B	0.02656	0.0	B	0.01281	0.0	T	0.30149	-0.9988	9	0.02654	T	1	-10.1837	10.1102	0.42557	0.0975:0.0:0.9025:0.0	rs28651222;rs59586449	216	Q9BZJ7	GPR62_HUMAN	R	216	ENSP00000319250:H216R	ENSP00000319250:H216R	H	+	2	0	GPR62	51965355	1.000000	0.71417	0.936000	0.37596	0.331000	0.28603	5.475000	0.66787	0.910000	0.36722	-0.355000	0.07637	CAC	A|0.003;G|0.997		0.761	GPR62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348611.1		
NXPE3	91775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	101520307	101520307	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr3:101520307T>A	ENST00000491511.2	+	5	1278	c.322T>A	c.(322-324)Ttt>Att	p.F108I	NXPE3_ENST00000422132.1_Missense_Mutation_p.F108I|NXPE3_ENST00000477909.1_Missense_Mutation_p.F108I|NXPE3_ENST00000273347.5_Missense_Mutation_p.F108I	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	108						extracellular region (GO:0005576)											TTCCAGCTACTTTGTCATCTT	0.537																																					p.F108I		.											.	.	0			c.T322A						.						97.0	86.0	90.0					3																	101520307		2203	4300	6503	SO:0001583	missense	91775	exon5			AGCTACTTTGTCA	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.322T>A	3.37:g.101520307T>A	ENSP00000417485:p.Phe108Ile	122	0		105	84	NM_145037	0	0	0	2	2	A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.029934	0.93575	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.67	5.67	0.87782	Immunoglobulin E-set (1);	0.089102	0.85682	D	0.000000	T	0.33440	0.0863	M	0.62088	1.915	0.58432	D	0.999992	D	0.76494	0.999	D	0.71656	0.974	T	0.01771	-1.1277	10	0.26408	T	0.33	-17.7015	16.215	0.82206	0.0:0.0:0.0:1.0	.	108	Q969Y0	FA55C_HUMAN	I	108	ENSP00000273347:F108I;ENSP00000417485:F108I;ENSP00000418369:F108I;ENSP00000396421:F108I	ENSP00000273347:F108I	F	+	1	0	FAM55C	103002997	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.560000	0.82277	2.288000	0.76882	0.533000	0.62120	TTT	.		0.537	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037	
EFCC1	79825	hgsc.bcm.edu	37	3	128720487	128720487	+	Missense_Mutation	SNP	A	A	G	rs1871951	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr3:128720487A>G	ENST00000480450.1	+	1	16	c.16A>G	c.(16-18)Acg>Gcg	p.T6A	EFCC1_ENST00000436022.2_5'UTR|KIAA1257_ENST00000510149.1_Intron			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	6							calcium ion binding (GO:0005509)										GCCGGTCAGCACGGGCGCGGA	0.756													G|||	3483	0.695487	0.9592	0.6052	5008	,	,		11644	0.6677		0.5915	False		,,,				2504	0.5389				p.T6A		.											.	.	0			c.A16G						.						2.0	4.0	3.0					3																	128720487		494	1283	1777	SO:0001583	missense	79825	exon1			GTCAGCACGGGCG	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"""EF-hand domain containing"""	25692	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 73"", ""coiled-coil domain containing 48"""	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.16A>G	3.37:g.128720487A>G	ENSP00000420075:p.Thr6Ala	0	0		5	5	NM_024768	0	0	0	0	0	A8MYE2	Missense_Mutation	SNP	ENST00000480450.1	37	CCDS3054.2	1498	0.6858974358974359	465	0.9451219512195121	229	0.6325966850828729	362	0.6328671328671329	442	0.58311345646438	g	0.361	-0.939497	0.02322	.	.	ENSG00000114654	ENST00000480450	T	0.41400	1.0	2.78	-3.05	0.05396	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.58432	P	6.999999999979245E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.37407	-0.9707	8	0.02654	T	1	.	3.5784	0.07943	0.1405:0.2998:0.4439:0.1159	rs1871951	6	Q9HA90	CCD48_HUMAN	A	6	ENSP00000420075:T6A	ENSP00000420075:T6A	T	+	1	0	CCDC48	130203177	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.263000	0.02850	-0.802000	0.04421	-0.701000	0.03672	ACG	A|0.315;G|0.685		0.756	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1	NM_024768	
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs75328065|rs199840382|rs111245977|rs377667898|rs200554408|rs201436152	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)ctgctgtggdel	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727																																					p.104_106del		.											.	OTOP1-92	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	c.310_318del						.																																			SO:0001651	inframe_deletion	133060	exon1			CAGCATCCACAGC	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.310_318delCTGCTGTGG	4.37:g.4228274_4228282delCCACAGCAG	ENSP00000296358:p.Leu104_Trp106del	6	0		88	8	NM_177998	0	0	0	0	0	A1L476	In_Frame_Del	DEL	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.727	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
CCDC96	257236	hgsc.bcm.edu	37	4	7044357	7044357	+	Silent	SNP	A	A	G	rs871133	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr4:7044357A>G	ENST00000310085.4	-	1	371	c.309T>C	c.(307-309)gtT>gtC	p.V103V	RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000512388.1_5'Flank|TADA2B_ENST00000310074.7_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	103	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CCTCAGCCCCAACCTCGGCCG	0.766													G|||	4833	0.965056	0.8979	0.9856	5008	,	,		11811	1.0		0.9702	False		,,,				2504	1.0				p.V103V		.											.	CCDC96-90	0			c.T309C						.	G		2893,205		1348,197,4	3.0	3.0	3.0		309	-4.5	0.0	4	dbSNP_86	3	6689,125		3282,125,0	no	coding-synonymous	CCDC96	NM_153376.2		4630,322,4	GG,GA,AA		1.8345,6.6172,3.3293		103/556	7044357	9582,330	1549	3407	4956	SO:0001819	synonymous_variant	257236	exon1			AGCCCCAACCTCG	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.309T>C	4.37:g.7044357A>G		0	0		12	12	NM_153376	0	0	0	9	9	Q8N2I7	Silent	SNP	ENST00000310085.4	37	CCDS3395.1																																																																																			A|0.036;G|0.964		0.766	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376	
FAM184B	27146	hgsc.bcm.edu	37	4	17643848	17643848	+	Missense_Mutation	SNP	G	G	A	rs2286771	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr4:17643848G>A	ENST00000265018.3	-	13	2562	c.2350C>T	c.(2350-2352)Cgg>Tgg	p.R784W		NM_015688.1	NP_056503.1	Q9ULE4	F184B_HUMAN	family with sequence similarity 184, member B	784				R -> W (in Ref. 1; BAA86590). {ECO:0000305}.						NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						GGGCCGCCCCGCTCCTGAGGA	0.701													G|||	2697	0.538538	0.1725	0.6599	5008	,	,		10215	0.8522		0.6233	False		,,,				2504	0.5368				p.R784W		.											.	FAM184B-23	0			c.C2350T						.						1.0	2.0	2.0					4																	17643848		374	1044	1418	SO:0001583	missense	27146	exon13			CGCCCCGCTCCTG		CCDS47033.1	4p16	2009-04-22			ENSG00000047662	ENSG00000047662			29235	protein-coding gene	gene with protein product						10574462	Standard	NM_015688		Approved	KIAA1276	uc003gpm.4	Q9ULE4	OTTHUMG00000160287	ENST00000265018.3:c.2350C>T	4.37:g.17643848G>A	ENSP00000265018:p.Arg784Trp	2	0		19	5	NM_015688	0	0	0	0	0		Missense_Mutation	SNP	ENST00000265018.3	37	CCDS47033.1	1272	0.5824175824175825	75	0.1524390243902439	232	0.6408839779005525	493	0.8618881118881119	472	0.6226912928759895	G	13.83	2.354233	0.41700	.	.	ENSG00000047662	ENST00000265018	T	0.34072	1.38	3.29	-3.67	0.04476	.	3.541600	0.00901	N	0.002342	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	D	0.56968	0.978	B	0.40741	0.339	T	0.48547	-0.9026	9	0.72032	D	0.01	2.0681	6.7491	0.23477	0.107:0.2547:0.5506:0.0877	rs2286771;rs58699512;rs2286771	784	Q9ULE4	F184B_HUMAN	W	784	ENSP00000265018:R784W	ENSP00000265018:R784W	R	-	1	2	FAM184B	17252946	0.000000	0.05858	0.000000	0.03702	0.516000	0.34256	-0.323000	0.07997	-1.014000	0.03379	-0.369000	0.07265	CGG	G|0.440;A|0.560		0.701	FAM184B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360137.1	NM_015688	
ZAR1	326340	hgsc.bcm.edu	37	4	48492434	48492434	+	Missense_Mutation	SNP	G	G	C	rs10008444	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr4:48492434G>C	ENST00000327939.4	+	1	166	c.126G>C	c.(124-126)caG>caC	p.Q42H		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	42					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						GCTGGCAGCAGCGCGGCAGGG	0.756													C|||	4938	0.986022	0.9493	0.9957	5008	,	,		9261	1.0		1.0	False		,,,				2504	1.0				p.Q42H		.											.	ZAR1-90	0			c.G126C						.	C	HIS/GLN	2851,89		1381,89,0	2.0	3.0	3.0		126	-0.2	0.0	4	dbSNP_119	3	6474,0		3237,0,0	no	missense	ZAR1	NM_175619.1	24	4618,89,0	CC,CG,GG		0.0,3.0272,0.9454	benign	42/425	48492434	9325,89	1470	3237	4707	SO:0001583	missense	326340	exon1			GCAGCAGCGCGGC	AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 6"""	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.126G>C	4.37:g.48492434G>C	ENSP00000329803:p.Gln42His	0	0		31	31	NM_175619	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327939.4	37	CCDS3483.1	2130	0.9752747252747253	449	0.9126016260162602	359	0.9917127071823204	565	0.9877622377622378	757	0.9986807387862797	C	0.021	-1.426522	0.01117	0.969728	1.0	ENSG00000182223	ENST00000327939	.	.	.	4.09	-0.185	0.13276	.	0.811302	0.10779	N	0.635071	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.22103	-1.0226	8	0.14252	T	0.57	-31.571	6.2995	0.21105	0.0:0.2927:0.4307:0.2766	rs10008444;rs58304706	42	Q86SH2	ZAR1_HUMAN	H	42	.	ENSP00000329803:Q42H	Q	+	3	2	ZAR1	48187191	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.053000	0.14184	-0.405000	0.07599	-0.676000	0.03789	CAG	G|0.025;C|0.975		0.756	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3		
PDGFRA	5156	broad.mit.edu	37	4	55124953	55124953	+	Silent	SNP	G	G	T			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr4:55124953G>T	ENST00000257290.5	+	2	349	c.18G>T	c.(16-18)ccG>ccT	p.P6P	PDGFRA_ENST00000508170.1_Silent_p.P6P|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	6					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CTTCCCATCCGGCGTTCCTGG	0.468			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											p.P6P	Pancreas(151;208 1913 7310 23853 37092)	.		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	PDGFRA-9497	0			c.G18T						.						207.0	197.0	200.0					4																	55124953		2203	4300	6503	SO:0001819	synonymous_variant	5156	exon2	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	CCATCCGGCGTTC	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.18G>T	4.37:g.55124953G>T		85	0		123	4	NM_006206	0	0	0	0	0	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	CCDS3495.1																																																																																			.		0.468	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
C4orf32	132720	hgsc.bcm.edu	37	4	113066831	113066831	+	Missense_Mutation	SNP	G	G	A	rs10002700	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr4:113066831G>A	ENST00000309733.5	+	1	279	c.95G>A	c.(94-96)gGg>gAg	p.G32E		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	32				G -> E (in Ref. 1; BAC04841 and 3; AAH22534). {ECO:0000305}.		integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		gcagggaccgggtgggatccc	0.806													A|||	5004	0.999201	1.0	1.0	5008	,	,		5782	1.0		0.996	False		,,,				2504	1.0				p.G32E		.											.	C4orf32-90	0			c.G95A						.	A	GLU/GLY	2990,0		1495,0,0	3.0	5.0	4.0		95	2.0	0.1	4	dbSNP_119	4	6170,26		3072,26,0	no	missense	C4orf32	NM_152400.2	98	4567,26,0	AA,AG,GG		0.4196,0.0,0.283	benign	32/133	113066831	9160,26	1495	3098	4593	SO:0001583	missense	132720	exon1			GGACCGGGTGGGA	AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.95G>A	4.37:g.113066831G>A	ENSP00000310182:p.Gly32Glu	0	0		8	8	NM_152400	0	0	0	2	2	Q49A91|Q4W5C7|Q8TBF9	Missense_Mutation	SNP	ENST00000309733.5	37	CCDS3695.1	2136	0.978021978021978	469	0.9532520325203252	355	0.9806629834254144	563	0.9842657342657343	749	0.9881266490765171	A	0.015	-1.569980	0.00895	1.0	0.995804	ENSG00000174749	ENST00000309733	T	0.42513	0.97	3.18	2.02	0.26589	.	0.619595	0.14277	N	0.329768	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32561	-0.9902	9	0.02654	T	1	-1.079	4.6216	0.12455	0.712:0.0:0.288:0.0	rs10002700;rs17845705;rs17858649	32	Q8N8J7	CD032_HUMAN	E	32	ENSP00000310182:G32E	ENSP00000310182:G32E	G	+	2	0	C4orf32	113286280	0.547000	0.26465	0.070000	0.20053	0.008000	0.06430	0.688000	0.25422	0.414000	0.25790	-0.893000	0.02921	GGG	G|0.022;A|0.978		0.806	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2	NM_152400	
SH3D19	152503	broad.mit.edu	37	4	152096227	152096227	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr4:152096227G>T	ENST00000409252.2	-	6	996	c.289C>A	c.(289-291)Cca>Aca	p.P97T	SH3D19_ENST00000514152.1_Missense_Mutation_p.P97T|SH3D19_ENST00000409598.4_Missense_Mutation_p.P97T|SH3D19_ENST00000604030.1_5'Flank|SH3D19_ENST00000427414.2_Missense_Mutation_p.P97T|SH3D19_ENST00000304527.4_Missense_Mutation_p.P97T|SH3D19_ENST00000424281.1_Missense_Mutation_p.P97T|SH3D19_ENST00000455740.1_Missense_Mutation_p.P97T			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	97	Pro-rich.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTGGTTACTGGGATGCTTCCC	0.537																																					p.P97T		.											.	SH3D19-92	0			c.C289A						.						106.0	104.0	105.0					4																	152096227		2203	4300	6503	SO:0001583	missense	152503	exon1			TTACTGGGATGCT	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.289C>A	4.37:g.152096227G>T	ENSP00000386848:p.Pro97Thr	35	0		46	3	NM_001128924	0	0	5	5	0	B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061475	0.36373	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35;3.35;3.35	6.07	6.07	0.98685	.	0.000000	0.56097	D	0.000021	T	0.12008	0.0292	M	0.62723	1.935	0.27086	N	0.962972	P;P;P	0.48089	0.722;0.818;0.905	B;B;P	0.45610	0.118;0.311;0.487	T	0.11179	-1.0598	10	0.39692	T	0.17	-12.3512	14.352	0.66708	0.0:0.1893:0.8107:0.0	.	97;97;97	Q5HYK7;Q5HYK7-2;Q5HYK7-3	SH319_HUMAN;.;.	T	97	ENSP00000387030:P97T;ENSP00000302913:P97T;ENSP00000416708:P97T;ENSP00000404542:P97T;ENSP00000415694:P97T;ENSP00000386848:P97T;ENSP00000423449:P97T	ENSP00000302913:P97T	P	-	1	0	SH3D19	152315677	0.997000	0.39634	0.641000	0.29422	0.428000	0.31595	1.890000	0.39728	2.884000	0.98904	0.655000	0.94253	CCA	.		0.537	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555	
FRG1	2483	bcgsc.ca	37	4	190876283	190876283	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr4:190876283C>A	ENST00000226798.4	+	5	631	c.409C>A	c.(409-411)Caa>Aaa	p.Q137K	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	137					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		ACCAAGAGAACAATGGGAACC	0.353																																					p.Q137K		.											.	FRG1-90	0			c.C409A						.						88.0	87.0	87.0					4																	190876283		2203	4300	6503	SO:0001583	missense	2483	exon5			AGAGAACAATGGG	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.409C>A	4.37:g.190876283C>A	ENSP00000226798:p.Gln137Lys	290	6		311	22	NM_004477	0	0	146	146	0	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	16.72	3.202137	0.58234	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.49139	2.03;0.79	4.04	4.04	0.47022	Actin cross-linking (1);	0.103449	0.64402	D	0.000002	T	0.54902	0.1887	M	0.88377	2.95	0.80722	D	1	B	0.11235	0.004	B	0.15484	0.013	T	0.60078	-0.7333	10	0.42905	T	0.14	-3.5101	14.1451	0.65347	0.0:1.0:0.0:0.0	.	137	Q14331	FRG1_HUMAN	K	137;74	ENSP00000226798:Q137K;ENSP00000435943:Q74K	ENSP00000226798:Q137K	Q	+	1	0	FRG1	191113277	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.292000	0.78731	1.964000	0.57103	0.567000	0.79289	CAA	.		0.353	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	
ADAMTS16	170690	hgsc.bcm.edu	37	5	5140632	5140632	+	Silent	SNP	T	T	C	rs270208	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr5:5140632T>C	ENST00000274181.7	+	1	190	c.52T>C	c.(52-54)Ttg>Ctg	p.L18L	ADAMTS16_ENST00000511368.1_Silent_p.L18L|CTD-2297D10.1_ENST00000514848.1_RNA|CTD-2297D10.2_ENST00000512155.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	18					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTGGATGCTGTTGGCGCAGGT	0.766													C|||	3127	0.624401	0.6747	0.6571	5008	,	,		8861	0.8065		0.501	False		,,,				2504	0.4724				p.L18L		.											.	ADAMTS16-275	0			c.T52C						.	C		2046,874		775,496,189	2.0	5.0	4.0		52	1.2	1.0	5	dbSNP_79	4	3653,3047		1121,1411,818	no	coding-synonymous	ADAMTS16	NM_139056.2		1896,1907,1007	CC,CT,TT		45.4776,29.9315,40.7588		18/1225	5140632	5699,3921	1460	3350	4810	SO:0001819	synonymous_variant	170690	exon1			ATGCTGTTGGCGC	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.52T>C	5.37:g.5140632T>C		0	0		16	8	NM_139056	0	0	0	0	0	C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	CCDS43299.1																																																																																			T|0.352;C|0.648		0.766	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
NSUN2	54888	hgsc.bcm.edu	37	5	6633042	6633042	+	Silent	SNP	C	C	T	rs10062086	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr5:6633042C>T	ENST00000264670.6	-	1	362	c.51G>A	c.(49-51)gaG>gaA	p.E17E	SRD5A1_ENST00000274192.5_5'Flank|NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000506139.1_Silent_p.E17E|SRD5A1_ENST00000537411.1_5'Flank|SRD5A1_ENST00000538824.1_5'Flank	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	17					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CCTCCGCGTCCTCCGGCCGCT	0.781													C|||	1385	0.276558	0.2829	0.3905	5008	,	,		9693	0.1587		0.3917	False		,,,				2504	0.1902				p.E17E		.											.	NSUN2-91	0			c.G51A						.						2.0	3.0	2.0					5																	6633042		1293	2804	4097	SO:0001819	synonymous_variant	54888	exon1			CGCGTCCTCCGGC	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.51G>A	5.37:g.6633042C>T		0	0		22	13	NM_017755	0	0	2	3	1	A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	CCDS3869.1																																																																																			C|0.687;T|0.313		0.781	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755	
ERAP2	64167	hgsc.bcm.edu	37	5	96232568	96232568	+	Splice_Site	SNP	G	G	A	rs75364820		TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr5:96232568G>A	ENST00000437043.3	+	9	2214		c.e9+1		CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Splice_Site|ERAP2_ENST00000515095.1_Splice_Site	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2						antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TCTGTCAAATGTAAGTCATAT	0.323																																					.		.											.	ERAP2-68	0			c.1503+1G>A						.						106.0	115.0	112.0					5																	96232568		2203	4298	6501	SO:0001630	splice_region_variant	64167	exon9			TCAAATGTAAGTC	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.1503+1G>A	5.37:g.96232568G>A		43	0		67	5	NM_022350	0	0	0	0	0	Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Splice_Site	SNP	ENST00000437043.3	37	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690341	0.29962	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904	.	.	.	5.01	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6132	0.45434	0.1496:0.0:0.8504:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERAP2	96258324	1.000000	0.71417	0.243000	0.24186	0.446000	0.32137	6.798000	0.75155	0.630000	0.30394	0.563000	0.77884	.	.		0.323	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350	Intron
PROB1	389333	hgsc.bcm.edu	37	5	138730037	138730037	+	Missense_Mutation	SNP	T	T	C	rs11748963	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr5:138730037T>C	ENST00000434752.2	-	1	848	c.734A>G	c.(733-735)cAg>cGg	p.Q245R		NM_001161546.1	NP_001155018.1	E7EW31	PROB1_HUMAN	proline-rich basic protein 1	245																	CGCGGCGGCCTGCAGGGGGCC	0.781													T|||	1773	0.354034	0.146	0.2839	5008	,	,		10752	0.6151		0.3042	False		,,,				2504	0.4673				p.Q245R		.											.	.	0			c.A734G						.						5.0	7.0	6.0					5																	138730037		671	1537	2208	SO:0001583	missense	389333	exon1			GCGGCCTGCAGGG	AK316483	CCDS54909.1	5q31.2	2012-10-01	2012-10-01	2012-10-01	ENSG00000228672	ENSG00000228672			41906	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 65"""	C5orf65			Standard	NM_001161546		Approved		uc011czc.1	E7EW31		ENST00000434752.2:c.734A>G	5.37:g.138730037T>C	ENSP00000416033:p.Gln245Arg	1	0		32	14	NM_001161546	0	0	0	0	0	B4E007	Missense_Mutation	SNP	ENST00000434752.2	37	CCDS54909.1	803	0.3676739926739927	105	0.21341463414634146	108	0.2983425414364641	366	0.6398601398601399	224	0.2955145118733509	T	21.8	4.205823	0.79127	.	.	ENSG00000228672	ENST00000434752	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	T	0.00012	0.0000	L	0.36672	1.1	0.33628	P	0.39427599999999996	D	0.76494	0.999	D	0.83275	0.996	T	0.45483	-0.9258	7	0.52906	T	0.07	.	11.6588	0.51334	0.0:0.0:0.0:1.0	rs11748963	245	E7EW31	CE065_HUMAN	R	245	.	ENSP00000416033:Q245R	Q	-	2	0	AC135457.1	138757936	0.990000	0.36364	0.998000	0.56505	0.770000	0.43624	2.116000	0.41930	1.919000	0.55581	0.459000	0.35465	CAG	T|0.632;C|0.368		0.781	PROB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470735.1	NM_001161546	
ZNF879	345462	broad.mit.edu	37	5	178459426	178459426	+	Missense_Mutation	SNP	A	A	C	rs17078991	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr5:178459426A>C	ENST00000444149.2	+	5	665	c.477A>C	c.(475-477)gaA>gaC	p.E159D		NM_001136116.1	NP_001129588.1	B4DU55	ZN879_HUMAN	zinc finger protein 879	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E159D(1)		endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						AAGGTGTTGAATTTGGGAAAA	0.373													A|||	1824	0.364217	0.5182	0.255	5008	,	,		19198	0.4276		0.2237	False		,,,				2504	0.3129				p.E159D		.											.	ZNF879-47	1	Substitution - Missense(1)	stomach(1)	c.A477C						.	A	ASP/GLU	618,766		138,342,212	91.0	77.0	81.0		477	-1.2	0.3	5	dbSNP_123	81	706,2476		75,556,960	yes	missense	ZNF879	NM_001136116.1	45	213,898,1172	CC,CA,AA		22.1873,44.6532,28.9969	benign	159/564	178459426	1324,3242	692	1591	2283	SO:0001583	missense	345462	exon5			TGTTGAATTTGGG	AK300504	CCDS47352.1	5q35.3	2013-01-08			ENSG00000234284	ENSG00000234284		"""Zinc fingers, C2H2-type"", ""-"""	37273	protein-coding gene	gene with protein product							Standard	NM_001136116		Approved	DKFZp686E2433	uc003mjt.4	B4DU55	OTTHUMG00000163596	ENST00000444149.2:c.477A>C	5.37:g.178459426A>C	ENSP00000414887:p.Glu159Asp	147	0		251	6	NM_001136116	0	0	0	0	0		Missense_Mutation	SNP	ENST00000444149.2	37	CCDS47352.1	770	0.3525641025641026	243	0.49390243902439024	100	0.27624309392265195	244	0.42657342657342656	183	0.24142480211081793	A	9.372	1.070780	0.20147	0.446532	0.221873	ENSG00000234284	ENST00000444149	T	0.06933	3.24	4.45	-1.18	0.09617	.	.	.	.	.	T	0.00012	0.0000	L	0.37850	1.14	0.34582	P	0.28547900000000004	B	0.02656	0.0	B	0.04013	0.001	T	0.42120	-0.9470	8	0.42905	T	0.14	-4.0842	4.6168	0.12430	0.4554:0.3309:0.2137:0.0	rs17078991;rs52798739;rs17078991	159	B4DU55	ZN879_HUMAN	D	159	ENSP00000414887:E159D	ENSP00000414887:E159D	E	+	3	2	ZNF879	178392032	0.000000	0.05858	0.286000	0.24833	0.782000	0.44232	-0.068000	0.11561	-0.283000	0.09115	0.482000	0.46254	GAA	A|0.634;C|0.365		0.373	ZNF879-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374447.1	NM_001136116	
FOXQ1	94234	hgsc.bcm.edu	37	6	1313078	1313078	+	Missense_Mutation	SNP	G	G	A	rs78460560	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr6:1313078G>A	ENST00000296839.2	+	1	404	c.139G>A	c.(139-141)Gcg>Acg	p.A47T		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	47	Ala/Gly-rich.				hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TGGGGACTGCGCGGCCAACAG	0.776													G|||	1032	0.20607	0.152	0.1167	5008	,	,		7714	0.3204		0.2028	False		,,,				2504	0.228				p.A47T		.											.	FOXQ1-226	0			c.G139A						.	G	THR/ALA	383,2509		22,339,1085	4.0	6.0	5.0		139	2.8	0.6	6	dbSNP_131	5	975,4829		79,817,2006	no	missense	FOXQ1	NM_033260.3	58	101,1156,3091	AA,AG,GG		16.7988,13.2434,15.6164	benign	47/404	1313078	1358,7338	1446	2902	4348	SO:0001583	missense	94234	exon1			GACTGCGCGGCCA	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.139G>A	6.37:g.1313078G>A	ENSP00000296839:p.Ala47Thr	0	0		7	7	NM_033260	0	0	0	0	0	Q9NS06	Missense_Mutation	SNP	ENST00000296839.2	37	CCDS4471.1	515	0.2358058608058608	92	0.18699186991869918	61	0.1685082872928177	186	0.32517482517482516	176	0.23218997361477572	G	12.03	1.816453	0.32145	0.132434	0.167988	ENSG00000164379	ENST00000296839	T	0.55760	0.5	3.7	2.83	0.33086	.	0.188662	0.33938	N	0.004403	T	0.18467	0.0443	L	0.40543	1.245	0.43642	P	0.003958000000000017	P	0.47106	0.89	B	0.30646	0.118	T	0.04255	-1.0965	9	0.52906	T	0.07	.	9.136	0.36875	0.1132:0.0:0.8868:0.0	.	47	Q9C009	FOXQ1_HUMAN	T	47	ENSP00000296839:A47T	ENSP00000296839:A47T	A	+	1	0	FOXQ1	1258078	0.028000	0.19301	0.567000	0.28434	0.485000	0.33311	1.776000	0.38594	0.551000	0.29008	-0.384000	0.06662	GCG	G|0.763;A|0.237		0.776	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260	
ZKSCAN4	387032	broad.mit.edu	37	6	28213111	28213111	+	Missense_Mutation	SNP	G	G	T	rs374524786	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr6:28213111G>T	ENST00000377294.2	-	5	1664	c.1421C>A	c.(1420-1422)aCg>aAg	p.T474K	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.T319K	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	474					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)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTGGCTTTCCGTCCTACCCTG	0.438																																					p.T474K		.											.	ZKSCAN4-91	0			c.C1421A						.						136.0	142.0	140.0					6																	28213111		2203	4300	6503	SO:0001583	missense	387032	exon5			CTTTCCGTCCTAC	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1421C>A	6.37:g.28213111G>T	ENSP00000366509:p.Thr474Lys	104	0		99	3	NM_019110	0	0	1	1	0	B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	G	5.692	0.312185	0.10789	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	T;T	0.06294	3.42;3.32	4.3	-5.06	0.02946	.	.	.	.	.	T	0.01029	0.0034	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48570	-0.9024	9	0.87932	D	0	.	1.3761	0.02221	0.1684:0.2487:0.3378:0.2451	.	474	Q969J2	ZKSC4_HUMAN	K	474;319	ENSP00000366509:T474K;ENSP00000401978:T319K	ENSP00000366509:T474K	T	-	2	0	ZKSCAN4	28321090	0.000000	0.05858	0.000000	0.03702	0.241000	0.25554	-0.495000	0.06443	-0.947000	0.03673	-0.345000	0.07892	ACG	.		0.438	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110	
PSORS1C1	170679	bcgsc.ca	37	6	31084639	31084639	+	Intron	SNP	C	C	T	rs4713436	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr6:31084639C>T	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Silent_p.R251R	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CCACCACAGGCCTCTGACCCC	0.652													C|||	981	0.195887	0.0893	0.2104	5008	,	,		16280	0.2054		0.1968	False		,,,				2504	0.319				p.R251R		.											.	CDSN-92	0			c.G753A						.	C	,	509,3895		22,465,1715	24.0	26.0	25.0		753,	2.8	0.8	6	dbSNP_111	25	1548,7046		144,1260,2893	no	coding-synonymous,intron	CDSN,PSORS1C1	NM_001264.4,NM_014068.2	,	166,1725,4608	TT,TC,CC		18.0126,11.5577,15.8255	,	251/530,	31084639	2057,10941	2202	4297	6499	SO:0001627	intron_variant	1041	exon2			CACAGGCCTCTGA	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1971C>T	6.37:g.31084639C>T		72	0		48	5	NM_001264	0	0	0	1	1	B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	37	CCDS34390.1																																																																																			C|0.838;T|0.162		0.652	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068	
PEX6	5190	hgsc.bcm.edu	37	6	42946490	42946490	+	Silent	SNP	C	C	A	rs9462858	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr6:42946490C>A	ENST00000304611.8	-	1	468	c.399G>T	c.(397-399)gtG>gtT	p.V133V	PEX6_ENST00000244546.4_Silent_p.V133V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	133					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GCGGTCCGGGCACTGGGAGGG	0.746													C|||	1662	0.331869	0.3691	0.3516	5008	,	,		10923	0.1002		0.4612	False		,,,				2504	0.3732				p.V133V		.											.	PEX6-91	0			c.G399T						.	C		1002,2080		214,574,753	2.0	3.0	3.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	399	2.1	0.9	6	dbSNP_119	3	2653,4001		636,1381,1310	no	coding-synonymous	PEX6	NM_000287.3		850,1955,2063	AA,AC,CC		39.8708,32.5114,37.5411		133/981	42946490	3655,6081	1541	3327	4868	SO:0001819	synonymous_variant	5190	exon1			TCCGGGCACTGGG	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.399G>T	6.37:g.42946490C>A		1	0		17	12	NM_000287	0	0	0	11	11	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	CCDS4877.1																																																																																			C|0.673;A|0.327		0.746	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287	
KCNQ5	56479	hgsc.bcm.edu	37	6	73332040	73332040	+	Silent	SNP	C	C	G	rs3734212	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr6:73332040C>G	ENST00000370398.1	+	1	232	c.123C>G	c.(121-123)tcC>tcG	p.S41S	KCNQ5_ENST00000402622.2_Silent_p.S41S|KCNQ5_ENST00000355194.4_Silent_p.S41S|KCNQ5_ENST00000370392.1_Silent_p.S41S|KCNQ5_ENST00000403813.2_Silent_p.S41S|KCNQ5_ENST00000355635.3_Silent_p.S41S|KCNQ5_ENST00000342056.2_Silent_p.S41S|KCNQ5_ENST00000414165.2_Silent_p.S41S	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	41					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	ATGTGGAGTCCGGCCGGGGCA	0.791													G|||	2294	0.458067	0.2625	0.4337	5008	,	,		8962	0.4524		0.7097	False		,,,				2504	0.4867				p.S41S	GBM(142;1375 1859 14391 23261 44706)	.											.	KCNQ5-158	0			c.C123G						.	G	,,,,	1342,1750		314,714,518	2.0	3.0	3.0		123,123,123,123,123	-2.2	1.0	6	dbSNP_107	3	4892,1744		1918,1056,344	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNQ5	NM_001160130.1,NM_001160132.1,NM_001160133.1,NM_001160134.1,NM_019842.3	,,,,	2232,1770,862	GG,GC,CC		26.2809,43.4023,35.9169	,,,,	41/924,41/943,41/952,41/823,41/933	73332040	6234,3494	1546	3318	4864	SO:0001819	synonymous_variant	56479	exon1			GGAGTCCGGCCGG	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.123C>G	6.37:g.73332040C>G		0	0		4	4	NM_001160132	0	0	0	0	0	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	37	CCDS4976.1																																																																																			C|0.505;G|0.495		0.791	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	
EIF3B	8662	hgsc.bcm.edu	37	7	2394991	2394991	+	Silent	SNP	C	C	T	rs11551167	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr7:2394991C>T	ENST00000360876.4	+	1	491	c.435C>T	c.(433-435)aaC>aaT	p.N145N	EIF3B_ENST00000397011.2_Silent_p.N145N	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CGCTGGAGAACGGCGACGCGG	0.756													C|||	1173	0.234225	0.0847	0.1513	5008	,	,		9860	0.2808		0.2704	False		,,,				2504	0.41				p.N145N		.											.	EIF3B-68	0			c.C435T						.	C	,	311,3057		24,263,1397	4.0	4.0	4.0		435,435	0.5	1.0	7	dbSNP_120	4	1454,5336		174,1106,2115	no	coding-synonymous,coding-synonymous	EIF3B	NM_001037283.1,NM_003751.3	,	198,1369,3512	TT,TC,CC		21.4138,9.234,17.3755	,	145/815,145/815	2394991	1765,8393	1684	3395	5079	SO:0001819	synonymous_variant	8662	exon1			GGAGAACGGCGAC	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.435C>T	7.37:g.2394991C>T		0	0		10	5	NM_001037283	0	0	21	42	21		Silent	SNP	ENST00000360876.4	37	CCDS5332.1																																																																																			C|0.787;T|0.213		0.756	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1		
GARS	2617	hgsc.bcm.edu	37	7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	rs1049402	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000582549.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5.0	8.0	7.0		124	-6.6	0.0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	0	0		29	29	NM_002047	0	0	0	23	23	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047	
GLI3	2737	hgsc.bcm.edu	37	7	42005678	42005678	+	Missense_Mutation	SNP	G	G	A	rs929387	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr7:42005678G>A	ENST00000395925.3	-	15	3077	c.2993C>T	c.(2992-2994)cCg>cTg	p.P998L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	998			P -> L (in dbSNP:rs929387). {ECO:0000269|PubMed:10441342, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2118997}.		anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCCGTGGCCCGGCGCATCGTG	0.746									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				G|||	2111	0.421526	0.1619	0.4424	5008	,	,		11700	0.7688		0.3161	False		,,,				2504	0.5082				p.P998L		.											.	GLI3-1149	0			c.C2993T						.	G	LEU/PRO	654,2960		69,516,1222	4.0	5.0	5.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2993	3.8	0.2	7	dbSNP_86	5	2170,5232		331,1508,1862	no	missense	GLI3	NM_000168.5	98	400,2024,3084	AA,AG,GG		29.3164,18.0963,25.6354	benign	998/1581	42005678	2824,8192	1807	3701	5508	SO:0001583	missense	2737	exon15	Familial Cancer Database	;	TGGCCCGGCGCAT		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2993C>T	7.37:g.42005678G>A	ENSP00000379258:p.Pro998Leu	1	0		9	5	NM_000168	0	0	1	1	0	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	917	0.4198717948717949	75	0.1524390243902439	153	0.42265193370165743	451	0.7884615384615384	238	0.31398416886543534	G	1.729	-0.494582	0.04322	0.180963	0.293164	ENSG00000106571	ENST00000395925	T	0.15256	2.44	4.98	3.83	0.44106	.	0.327528	0.33217	N	0.005158	T	0.00012	0.0000	N	0.05554	-0.025	0.09310	P	0.9999999999224007	B	0.06786	0.001	B	0.04013	0.001	T	0.16247	-1.0409	9	0.17369	T	0.5	.	5.4162	0.16376	0.7624:0.0:0.0842:0.1533	rs929387;rs929387	998	P10071	GLI3_HUMAN	L	998	ENSP00000379258:P998L	ENSP00000379258:P998L	P	-	2	0	GLI3	41972203	1.000000	0.71417	0.171000	0.22900	0.021000	0.10359	4.758000	0.62220	0.733000	0.32492	-0.471000	0.05019	CCG	G|0.565;A|0.435		0.746	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
PSMC2	5701	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	102995342	102995342	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr7:102995342A>C	ENST00000435765.1	+	4	547	c.136A>C	c.(136-138)Aag>Cag	p.K46Q	PSMC2_ENST00000544811.1_5'UTR|PSMC2_ENST00000292644.3_Missense_Mutation_p.K46Q|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	46					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TAGGCAGATCAAGCAAGTTGA	0.333																																					p.K46Q		.											.	PSMC2-90	0			c.A136C						.						89.0	82.0	84.0					7																	102995342		2203	4300	6503	SO:0001583	missense	5701	exon3			CAGATCAAGCAAG	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.136A>C	7.37:g.102995342A>C	ENSP00000391211:p.Lys46Gln	61	0		71	24	NM_001204453	0	0	33	61	28	A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	A	31	5.087741	0.94100	.	.	ENSG00000161057	ENST00000457587;ENST00000425206;ENST00000435765;ENST00000292644	D;D	0.95238	-3.65;-3.65	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.95468	0.8528	M	0.78285	2.405	0.80722	D	1	D	0.54964	0.969	P	0.50490	0.642	D	0.95084	0.8216	10	0.42905	T	0.14	-20.4307	15.6731	0.77295	1.0:0.0:0.0:0.0	.	46	P35998	PRS7_HUMAN	Q	46	ENSP00000391211:K46Q;ENSP00000292644:K46Q	ENSP00000292644:K46Q	K	+	1	0	PSMC2	102782578	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.218000	0.95166	2.168000	0.68352	0.402000	0.26972	AAG	.		0.333	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803	
KCP	375616	hgsc.bcm.edu	37	7	128550681	128550681	+	RNA	DEL	C	C	-	rs11335250|rs398006231|rs112748667		TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr7:128550681delC	ENST00000476647.2	-	0	92							Q6ZWJ8	KCP_HUMAN	kielin/chordin-like protein							extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)	4						AGCGCCAGGGCCCCCGAGGTG	0.761													?|CCCCC|CCCC|unsure	5008	1.0	1.0	1.0	5008	,	,		11787	1.0		1.0	False		,,,				2504	1.0				.		.											.	KCP-68	0			c.49+1G>-						.		,	1955,3		977,1,1	1.0	2.0	2.0		,		0.6	7	dbSNP_130	11	3848,2		1924,0,1	no	frameshift,frameshift	KCP	NM_199349.2,NM_001135914.1	,	2901,1,2	A1A1,A1R,RR		0.0519,0.1532,0.0861	,	,	128550681	5803,5	255	884	1139			375616	exon2			CCAGGGCCCCCGA	AK122706		7q32.3	2009-11-06	2009-02-18	2009-02-18	ENSG00000135253	ENSG00000135253			17585	protein-coding gene	gene with protein product	"""kielin"""	609344	"""cysteine rich BMP regulator 2 (chordin-like)"""	CRIM2		15793581	Standard	NM_001135914		Approved	FLJ33365, NET67	uc011kor.2	Q6ZWJ8	OTTHUMG00000158363		7.37:g.128550681delC		0	0		14	13	NM_001135914	0	0	0	0	0	Q8NBE0	Splice_Site	DEL	ENST00000476647.2	37																																																																																				.		0.761	KCP-006	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000403051.1	NM_199349	
TRIM24	8805	broad.mit.edu	37	7	138252356	138252356	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr7:138252356A>C	ENST00000343526.4	+	10	1876	c.1661A>C	c.(1660-1662)aAc>aCc	p.N554T	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.N520T			O15164	TIF1A_HUMAN	tripartite motif containing 24	554					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N554T(1)|p.N520T(1)|p.N478T(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						ATAAAGCCAAACCCCCTACAG	0.423																																					p.N554T	Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	.											.	TRIM24-1030	3	Substitution - Missense(3)	kidney(3)	c.A1661C						.						103.0	93.0	96.0					7																	138252356		2203	4300	6503	SO:0001583	missense	8805	exon10			AGCCAAACCCCCT	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1661A>C	7.37:g.138252356A>C	ENSP00000340507:p.Asn554Thr	95	16		152	33	NM_015905	0	0	31	32	1	A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.294343	0.23564	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.77489	-1.1;-1.1	5.75	5.75	0.90469	.	0.140365	0.64402	D	0.000006	T	0.68742	0.3034	L	0.46157	1.445	0.46167	D	0.998908	P;P	0.48764	0.915;0.628	B;B	0.39465	0.3;0.16	T	0.67492	-0.5657	10	0.12430	T	0.62	-7.0144	14.2921	0.66286	1.0:0.0:0.0:0.0	.	554;520	O15164;O15164-2	TIF1A_HUMAN;.	T	554;465;520;478	ENSP00000340507:N554T;ENSP00000390829:N520T	ENSP00000340507:N554T	N	+	2	0	TRIM24	137902896	1.000000	0.71417	0.978000	0.43139	0.131000	0.20780	6.010000	0.70753	2.195000	0.70347	0.533000	0.62120	AAC	.		0.423	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905	
SVOPL	136306	broad.mit.edu	37	7	138363767	138363767	+	Silent	SNP	A	A	G	rs10250576	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr7:138363767A>G	ENST00000419765.3	-	1	57	c.24T>C	c.(22-24)ccT>ccC	p.P8P	SVOPL_ENST00000421622.1_Silent_p.P8P	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	8						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GGATCGTGACAGGCTCTGTTG	0.493													G|||	3027	0.604433	0.9228	0.4481	5008	,	,		18186	0.627		0.4036	False		,,,				2504	0.4683				p.P8P		.											.	SVOPL-68	0			c.T24C						.	G		1158,226		486,186,20	100.0	96.0	97.0		24	-9.8	0.0	7	dbSNP_119	97	1289,1893		261,767,563	no	coding-synonymous	SVOPL	NM_001139456.1		747,953,583	GG,GA,AA		40.5091,16.3295,46.4082		8/493	138363767	2447,2119	692	1591	2283	SO:0001819	synonymous_variant	136306	exon1			CGTGACAGGCTCT	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.24T>C	7.37:g.138363767A>G		170	1		226	4	NM_001139456	0	0	0	0	0		Silent	SNP	ENST00000419765.3	37	CCDS47721.1																																																																																			A|0.433;G|0.567		0.493	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959	
SSPO	23145	bcgsc.ca	37	7	149522162	149522162	+	RNA	SNP	G	G	T	rs62617122	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr7:149522162G>T	ENST00000378016.2	+	0	13949							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAGGAGGCTGCCGGGAGCCA	0.652													G|||	843	0.168331	0.1233	0.1931	5008	,	,		15528	0.1746		0.1551	False		,,,				2504	0.2188				p.C4650F		.											.	.	0			c.G13949T						.	G		469,3329		33,403,1463	19.0	25.0	23.0		13963	4.4	0.5	7	dbSNP_129	23	1386,6814		110,1166,2824	yes	coding-notMod3	SSPO	NM_198455.2		143,1569,4287	TT,TG,GG		16.9024,12.3486,15.4609			149522162	1855,10143	1899	4100	5999			23145	exon96			GAGGCTGCCGGGA	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149522162G>T		78	0		126	7	NM_198455	0	0	0	0	0	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				G|0.840;T|0.160		0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
SNTB1	6641	hgsc.bcm.edu	37	8	121824063	121824063	+	Silent	SNP	C	C	A	rs190526297	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr8:121824063C>A	ENST00000395601.3	-	2	435	c.21G>T	c.(19-21)gcG>gcT	p.A7A	SNTB1_ENST00000519177.1_5'Flank|RP11-713M15.2_ENST00000605955.1_RNA|SNTB1_ENST00000517992.1_Silent_p.A7A	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	7	Poly-Ala.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CAgccgccgccgccgccgccg	0.677													C|||	457	0.091254	0.1324	0.0692	5008	,	,		6957	0.0466		0.0746	False		,,,				2504	0.1145				p.A7A		.											.	SNTB1-228	0			c.G21T						.						1.0	1.0	1.0					8																	121824063		449	1101	1550	SO:0001819	synonymous_variant	6641	exon1			CGCCGCCGCCGCC	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.21G>T	8.37:g.121824063C>A		0	0		5	5	NM_021021	0	0	0	0	0	A8K9E0|O14912|Q4KMG8	Silent	SNP	ENST00000395601.3	37	CCDS6334.1																																																																																			C|0.937;A|0.063		0.677	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021	
FAM83H	286077	hgsc.bcm.edu	37	8	144810138	144810138	+	Missense_Mutation	SNP	G	G	A	rs1137806	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr8:144810138G>A	ENST00000388913.3	-	5	1618	c.1493C>T	c.(1492-1494)cCg>cTg	p.P498L		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	498					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCGAGCTCCGGGAAGCGGGG	0.771													G|||	831	0.165935	0.0083	0.147	5008	,	,		6578	0.247		0.1451	False		,,,				2504	0.3303				p.P498L		.											.	FAM83H-92	0			c.C1493T						.	G	LEU/PRO	64,3096		3,58,1519	4.0	7.0	6.0		1493	4.4	0.3	8	dbSNP_86	6	767,6345		32,703,2821	no	missense	FAM83H	NM_198488.3	98	35,761,4340	AA,AG,GG		10.7846,2.0253,8.09	benign	498/1180	144810138	831,9441	1580	3556	5136	SO:0001583	missense	286077	exon5			AGCTCCGGGAAGC	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.1493C>T	8.37:g.144810138G>A	ENSP00000373565:p.Pro498Leu	0	0		5	5	NM_198488	0	0	0	1	1	A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	CCDS6410.2	321	0.14697802197802198	19	0.03861788617886179	46	0.1270718232044199	147	0.256993006993007	109	0.1437994722955145	N	15.31	2.796089	0.50208	0.020253	0.107846	ENSG00000180921	ENST00000388913	T	0.15256	2.44	4.45	4.45	0.53987	.	425.438000	0.00924	U	0.002638	T	0.00012	0.0000	L	0.32530	0.975	0.49299	P	2.2400000000000198E-4	D	0.76494	0.999	P	0.61275	0.886	T	0.14090	-1.0485	9	0.56958	D	0.05	.	12.8618	0.57918	0.0:0.0:0.8368:0.1632	rs1137806;rs3201609	498	Q6ZRV2	FA83H_HUMAN	L	498	ENSP00000373565:P498L	ENSP00000373565:P498L	P	-	2	0	FAM83H	144882126	1.000000	0.71417	0.283000	0.24790	0.537000	0.34900	4.979000	0.63806	2.010000	0.58986	0.455000	0.32223	CCG	G|0.853;A|0.147		0.771	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488	
PLEC	5339	hgsc.bcm.edu	37	8	144998169	144998169	+	Silent	SNP	C	C	T	rs1140522	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr8:144998169C>T	ENST00000322810.4	-	31	6508	c.6339G>A	c.(6337-6339)gcG>gcA	p.A2113A	PLEC_ENST00000345136.3_Silent_p.A1976A|PLEC_ENST00000354958.2_Silent_p.A1954A|PLEC_ENST00000357649.2_Silent_p.A1980A|PLEC_ENST00000356346.3_Silent_p.A1962A|PLEC_ENST00000436759.2_Silent_p.A2003A|PLEC_ENST00000398774.2_Silent_p.A1944A|PLEC_ENST00000354589.3_Silent_p.A1976A|PLEC_ENST00000527096.1_Silent_p.A1999A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2113	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCCTCCGCCGCCAGCTGCC	0.741													C|||	1156	0.230831	0.028	0.2968	5008	,	,		12421	0.1429		0.4274	False		,,,				2504	0.3466				p.A2113A		.											.	PLEC-141	0			c.G6339A						.	C	,,,,,,,	297,3657		19,259,1699	5.0	7.0	6.0		6009,5886,5862,6339,5832,5928,5940,5928	-8.9	0.0	8	dbSNP_86	6	2901,4993		551,1799,1597	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	570,2058,3296	TT,TC,CC		36.7494,7.5114,26.9919	,,,,,,,	2003/4575,1962/4534,1954/4526,2113/4685,1944/4516,1976/4548,1980/4552,1976/4548	144998169	3198,8650	1977	3947	5924	SO:0001819	synonymous_variant	5339	exon31			CTCCGCCGCCAGC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6339G>A	8.37:g.144998169C>T		0	0		19	18	NM_201380	0	0	0	2	2	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.740;T|0.260		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
PLEC	5339	hgsc.bcm.edu	37	8	144998190	144998190	+	Silent	SNP	A	A	G	rs2857829	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr8:144998190A>G	ENST00000322810.4	-	31	6487	c.6318T>C	c.(6316-6318)gcT>gcC	p.A2106A	PLEC_ENST00000345136.3_Silent_p.A1969A|PLEC_ENST00000354958.2_Silent_p.A1947A|PLEC_ENST00000357649.2_Silent_p.A1973A|PLEC_ENST00000356346.3_Silent_p.A1955A|PLEC_ENST00000436759.2_Silent_p.A1996A|PLEC_ENST00000398774.2_Silent_p.A1937A|PLEC_ENST00000354589.3_Silent_p.A1969A|PLEC_ENST00000527096.1_Silent_p.A1992A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2106	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGCCTCGCAGCCTCCAGCT	0.746													a|||	1156	0.230831	0.028	0.2968	5008	,	,		12955	0.1429		0.4274	False		,,,				2504	0.3466				p.A2106A		.											.	PLEC-141	0			c.T6318C						.	G	,,,,,,,	343,3813		21,301,1756	7.0	8.0	8.0		5988,5865,5841,6318,5811,5907,5919,5907	-8.1	0.0	8	dbSNP_100	8	3082,5166		620,1842,1662	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	641,2143,3418	GG,GA,AA		37.3666,8.2531,27.6121	,,,,,,,	1996/4575,1955/4534,1947/4526,2106/4685,1937/4516,1969/4548,1973/4552,1969/4548	144998190	3425,8979	2078	4124	6202	SO:0001819	synonymous_variant	5339	exon31			CCTCGCAGCCTCC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6318T>C	8.37:g.144998190A>G		1	0		27	25	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.738;G|0.262		0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
PLEC	5339	hgsc.bcm.edu	37	8	144999417	144999417	+	Silent	SNP	C	C	T	rs55836855	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr8:144999417C>T	ENST00000322810.4	-	31	5260	c.5091G>A	c.(5089-5091)gcG>gcA	p.A1697A	PLEC_ENST00000345136.3_Silent_p.A1560A|PLEC_ENST00000354958.2_Silent_p.A1538A|PLEC_ENST00000357649.2_Silent_p.A1564A|PLEC_ENST00000356346.3_Silent_p.A1546A|PLEC_ENST00000436759.2_Silent_p.A1587A|PLEC_ENST00000398774.2_Silent_p.A1528A|PLEC_ENST00000354589.3_Silent_p.A1560A|PLEC_ENST00000527096.1_Silent_p.A1583A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1697	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTACCTGCCGCGCTCGCTCCA	0.741													C|||	1156	0.230831	0.028	0.2954	5008	,	,		8861	0.1429		0.4274	False		,,,				2504	0.3476				p.A1697A		.											.	PLEC-141	0			c.G5091A						.	C	,,,,,,,	258,3112		16,226,1443	6.0	7.0	7.0		4761,4638,4614,5091,4584,4680,4692,4680	-9.4	0.1	8	dbSNP_129	7	2520,4470		444,1632,1419	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	460,1858,2862	TT,TC,CC		36.0515,7.6558,26.8147	,,,,,,,	1587/4575,1546/4534,1538/4526,1697/4685,1528/4516,1560/4548,1564/4552,1560/4548	144999417	2778,7582	1685	3495	5180	SO:0001819	synonymous_variant	5339	exon31			CTGCCGCGCTCGC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.5091G>A	8.37:g.144999417C>T		0	0		5	5	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.731;T|0.269		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
PLEC	5339	hgsc.bcm.edu	37	8	145001784	145001784	+	Silent	SNP	A	A	G	rs3135109	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr8:145001784A>G	ENST00000322810.4	-	27	4130	c.3961T>C	c.(3961-3963)Ttg>Ctg	p.L1321L	PLEC_ENST00000345136.3_Silent_p.L1184L|PLEC_ENST00000354958.2_Silent_p.L1162L|PLEC_ENST00000357649.2_Silent_p.L1188L|PLEC_ENST00000356346.3_Silent_p.L1170L|PLEC_ENST00000436759.2_Silent_p.L1211L|PLEC_ENST00000398774.2_Silent_p.L1152L|PLEC_ENST00000354589.3_Silent_p.L1184L|PLEC_ENST00000527096.1_Silent_p.L1207L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1321	Globular 1.		L -> V (in dbSNP:rs3135109). {ECO:0000269|PubMed:8698233}.		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCAAGCAACTGGGCGACC	0.716													G|||	1156	0.230831	0.028	0.2954	5008	,	,		12494	0.1429		0.4274	False		,,,				2504	0.3476				p.L1321L		.											.	PLEC-141	0			c.T3961C						.	G	,,,,,,,	296,3620		20,256,1682	5.0	6.0	6.0		3631,3508,3484,3961,3454,3550,3562,3550	4.4	0.9	8	dbSNP_103	6	2835,5065		532,1771,1647	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	552,2027,3329	GG,GA,AA		35.8861,7.5587,26.498	,,,,,,,	1211/4575,1170/4534,1162/4526,1321/4685,1152/4516,1184/4548,1188/4552,1184/4548	145001784	3131,8685	1958	3950	5908	SO:0001819	synonymous_variant	5339	exon27			CAAGCAACTGGGC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3961T>C	8.37:g.145001784A>G		0	0		18	18	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			G|0.246;A|0.754		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
ZNF517	340385	hgsc.bcm.edu	37	8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	rs2976653	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {ECO:0000305}.	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(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1.0	1.0	5008	,	,		12856	1.0		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3.0	5.0	4.0		1046	-0.8	0.0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"""Zinc fingers, C2H2-type"", ""-"""	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	0	0		17	17	NM_213605	0	0	0	4	4		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	362|362	1.0|1.0	572|572	1.0|1.0	753|753	0.9934036939313984|0.9934036939313984	C|C	0.021|0.021	-1.418607|-1.418607	0.01136|0.01136	0.999121|0.999121	0.993517|0.993517	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05319|.	3.46;3.46|.	2.17|2.17	-0.838|-0.838	0.10762|0.10762	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21449|0.21449	-1.0245|-1.0245	8|4	0.59425|.	D|.	0.04|.	.|.	0.241|0.241	0.00192|0.00192	0.362:0.2246:0.2135:0.1999|0.362:0.2246:0.2135:0.1999	rs2976653;rs59817342|rs2976653;rs59817342	349|.	Q6ZMY9|.	ZN517_HUMAN|.	A|R	349|316	ENSP00000353058:V349A;ENSP00000436103:V349A|.	ENSP00000353058:V349A|.	V|W	+|+	2|1	0|0	ZNF517|ZNF517	146004151|146004151	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-0.400000|-0.400000	0.07241|0.07241	-0.612000|-0.612000	0.05701|0.05701	-1.157000|-1.157000	0.01802|0.01802	GTG|TGG	G|0.992;C|0.006		0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261	
DMRT1	1761	hgsc.bcm.edu	37	9	841971	841971	+	Missense_Mutation	SNP	T	T	A	rs3739583	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr9:841971T>A	ENST00000382276.3	+	1	282	c.133T>A	c.(133-135)Tcg>Acg	p.S45T	DMRT1_ENST00000569227.1_5'Flank	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	45			S -> T (in dbSNP:rs3739583). {ECO:0000269|PubMed:10332030, ECO:0000269|PubMed:10857744, ECO:0000269|PubMed:16617334}.		cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GGCCAGCGGCTCGAGCGCCGG	0.756													T|||	1125	0.224641	0.0923	0.2017	5008	,	,		10887	0.4722		0.1223	False		,,,				2504	0.2699				p.S45T		.											.	DMRT1-515	0			c.T133A						.	T	THR/SER	381,3479		16,349,1565	4.0	5.0	5.0		133	-1.9	0.0	9	dbSNP_107	5	945,6747		48,849,2949	no	missense	DMRT1	NM_021951.2	58	64,1198,4514	AA,AT,TT		12.2855,9.8705,11.4785	benign	45/374	841971	1326,10226	1930	3846	5776	SO:0001583	missense	1761	exon1			AGCGGCTCGAGCG	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.133T>A	9.37:g.841971T>A	ENSP00000371711:p.Ser45Thr	0	0		22	21	NM_021951	0	0	0	0	0	B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	CCDS6442.1	482	0.2206959706959707	65	0.13211382113821138	69	0.19060773480662985	259	0.4527972027972028	89	0.11741424802110818	t	3.227	-0.158317	0.06544	0.098705	0.122855	ENSG00000137090	ENST00000451501;ENST00000382276	T	0.18338	2.22	3.29	-1.87	0.07737	.	4.016930	0.01046	N	0.004398	T	0.00012	0.0000	L	0.40543	1.245	0.80722	P	0.0	B	0.16166	0.016	B	0.12156	0.007	T	0.46816	-0.9164	9	0.11485	T	0.65	.	2.6176	0.04907	0.219:0.1045:0.4923:0.1842	rs3739583;rs3739583	45	Q9Y5R6	DMRT1_HUMAN	T	45	ENSP00000371711:S45T	ENSP00000371711:S45T	S	+	1	0	DMRT1	831971	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.700000	0.05081	-0.232000	0.09811	0.454000	0.30748	TCG	T|0.317;A|0.683		0.756	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951	
TMEM215	401498	broad.mit.edu	37	9	32784293	32784293	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr9:32784293G>T	ENST00000342743.5	+	2	477	c.112G>T	c.(112-114)Gga>Tga	p.G38*		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	38						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						GGAGACTTTGGGAAACATCCC	0.587																																					p.G38X		.											.	TMEM215-90	0			c.G112T						.						90.0	83.0	85.0					9																	32784293		2203	4300	6503	SO:0001587	stop_gained	401498	exon2			ACTTTGGGAAACA		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.112G>T	9.37:g.32784293G>T	ENSP00000345468:p.Gly38*	135	0		113	4	NM_212558	0	0	0	0	0	Q6ZUU2	Nonsense_Mutation	SNP	ENST00000342743.5	37	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	G	38	6.989071	0.97987	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.05	4.15	0.48705	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.1016	11.1324	0.48354	0.091:0.0:0.9089:0.0	.	.	.	.	X	38	.	ENSP00000345468:G38X	G	+	1	0	TMEM215	32774293	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.480000	0.81109	1.120000	0.41904	0.462000	0.41574	GGA	.		0.587	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558	
COL27A1	85301	bcgsc.ca	37	9	116940594	116940594	+	Silent	SNP	A	A	G	rs3810930	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr9:116940594A>G	ENST00000356083.3	+	4	2323	c.1932A>G	c.(1930-1932)ctA>ctG	p.L644L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	644	Collagen-like 1.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TACCTGGGCTACCTGGAATCC	0.562													A|||	359	0.0716853	0.0408	0.0562	5008	,	,		18769	0.0744		0.0507	False		,,,				2504	0.1431				p.L644L		.											.	COL27A1-94	0			c.A1932G						.	A		194,4212	123.3+/-160.7	3,188,2012	187.0	170.0	175.0		1932	-9.6	0.5	9	dbSNP_107	175	540,8060	149.4+/-204.5	14,512,3774	no	coding-synonymous	COL27A1	NM_032888.2		17,700,5786	GG,GA,AA		6.2791,4.4031,5.6435		644/1861	116940594	734,12272	2203	4300	6503	SO:0001819	synonymous_variant	85301	exon4			TGGGCTACCTGGA	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1932A>G	9.37:g.116940594A>G		135	0		120	6	NM_032888	0	0	1	1	0	Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	CCDS6802.1																																																																																			A|0.938;G|0.062		0.562	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
PHKA2	5256	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	18938279	18938279	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chrX:18938279A>G	ENST00000379942.4	-	18	2499	c.1834T>C	c.(1834-1836)Ttc>Ctc	p.F612L		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	612					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TATGTGTAGAACGATGTGGTG	0.433																																					p.F612L		.											.	PHKA2-131	0			c.T1834C						.						152.0	134.0	140.0					X																	18938279		2203	4300	6503	SO:0001583	missense	5256	exon18			TGTAGAACGATGT		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.1834T>C	X.37:g.18938279A>G	ENSP00000369274:p.Phe612Leu	125	1		163	65	NM_000292	0	0	5	5	0	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.210339	0.79240	.	.	ENSG00000044446	ENST00000379942	D	0.90197	-2.63	5.78	5.78	0.91487	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.89870	0.6840	M	0.70595	2.14	0.80722	D	1	B	0.32245	0.361	B	0.32393	0.145	D	0.88845	0.3315	10	0.49607	T	0.09	-25.2316	14.8851	0.70560	1.0:0.0:0.0:0.0	.	612	P46019	KPB2_HUMAN	L	612	ENSP00000369274:F612L	ENSP00000369274:F612L	F	-	1	0	PHKA2	18848200	1.000000	0.71417	0.941000	0.38009	0.851000	0.48451	8.256000	0.89848	2.044000	0.60594	0.486000	0.48141	TTC	.		0.433	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292	
DDX53	168400	broad.mit.edu	37	X	23020626	23020629	+	IGR	DEL	GAGT	GAGT	-			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chrX:23020626_23020629delGAGT	ENST00000327968.5	+	0	2118				RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AAAAATGAGAGAGTGAGAGACTAT	0.309																																					.		.											.	.	0			.						.																																			SO:0001628	intergenic_variant	0	.			ATGAGAGAGTGAG	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248		X.37:g.23020626_23020629delGAGT		262	0		433	7	.	0	0	0	0	0	Q0D2N2|Q6NVV4	RNA	DEL	ENST00000327968.5	37	CCDS35214.1																																																																																			.		0.309	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699	
FAM47C	442444	broad.mit.edu	37	X	37027466	37027466	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chrX:37027466C>A	ENST00000358047.3	+	1	1035	c.983C>A	c.(982-984)tCc>tAc	p.S328Y		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	328										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACTGGAGTGTCCCATCTCCAC	0.612																																					p.S328Y		.											.	FAM47C-111	0			c.C983A						.						89.0	80.0	83.0					X																	37027466		2202	4299	6501	SO:0001583	missense	442444	exon1			GAGTGTCCCATCT	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.983C>A	X.37:g.37027466C>A	ENSP00000367913:p.Ser328Tyr	88	0		119	3	NM_001013736	0	0	0	0	0	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	11.81	1.749283	0.30955	.	.	ENSG00000198173	ENST00000358047	T	0.20200	2.09	0.95	0.95	0.19572	.	.	.	.	.	T	0.34919	0.0914	M	0.62723	1.935	0.22620	N	0.99892	D	0.89917	1.0	D	0.91635	0.999	T	0.27191	-1.0081	9	0.12766	T	0.61	.	7.6289	0.28228	0.0:0.9999:0.0:1.0E-4	.	328	Q5HY64	FA47C_HUMAN	Y	328	ENSP00000367913:S328Y	ENSP00000367913:S328Y	S	+	2	0	FAM47C	36937387	0.002000	0.14202	0.017000	0.16124	0.017000	0.09413	-0.161000	0.10026	0.177000	0.19895	0.179000	0.17066	TCC	.		0.612	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
CELSR2	1952	hgsc.bcm.edu	37	1	109792735	109792736	+	In_Frame_Ins	INS	-	-	CGC	rs377757908|rs59201433|rs144034706	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr1:109792735_109792736insCGC	ENST00000271332.3	+	1	95_96	c.34_35insCGC	c.(34-36)acg>aCGCcg	p.16_17insP		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	16					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCCTCCCAACgccgccgccg	0.752														2846	0.568291	0.4198	0.6311	5008	,	,		10222	0.5298		0.7276	False		,,,				2504	0.6002				p.T12delinsTP	NSCLC(158;1285 2011 34800 34852 42084)	.											.	CELSR2-526	0			c.34_35insCGC						.			1363,1439		473,417,511						3.0	0.1		dbSNP_130	6	4135,1897		1679,777,560	no	coding	CELSR2	NM_001408.2		2152,1194,1071	A1A1,A1R,RR		31.4489,48.6438,37.7632				5498,3336				SO:0001652	inframe_insertion	1952	exon1			CTCCCAACGCCGC	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.47_49dupCGC	1.37:g.109792742_109792744dupCGC	ENSP00000271332:p.Pro16_Pro16dup	0	0		12	12	NM_001408	0	0	0	0	0	Q5T2Y7|Q92566	In_Frame_Ins	INS	ENST00000271332.3	37	CCDS796.1																																																																																			-|0.389;CGC|0.611		0.752	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408	
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCTGCTGCT	rs56352724|rs3831942|rs367921715|rs58327065		TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr1:154842199_154842200insGCTGCTGCTGCT	ENST00000271915.4	-	1	556_557	c.241_242insAGCAGCAGCAGC	c.(241-243)cca>cAGCAGCAGCAGCca	p.80_81insQQQQ	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.		Missing.		potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGGATGCGGTGgctgctgctgc	0.698																																					p.P81delinsQQQQP		.											.	KCNN3-91	2	Insertion - In frame(2)	prostate(2)	c.242_243insAGCAGCAGCAGC						.																																			SO:0001652	inframe_insertion	3782	exon1			TGCGGTGGCTGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.230_241dupAGCAGCAGCAGC	1.37:g.154842199_154842200insGCTGCTGCTGCT	ENSP00000271915:p.Gln77_Gln80dup	57	0		53	16	NM_001204087	0	0	0	0	0	B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	ENST00000271915.4	37	CCDS30880.1																																																																																			.		0.698	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249	
NCOR2	9612	broad.mit.edu	37	12	124824721	124824722	+	In_Frame_Ins	INS	-	-	GCCGCTGCT	rs61519723|rs112797765|rs143952466	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr12:124824721_124824722insGCCGCTGCT	ENST00000405201.1	-	37	5517_5518	c.5517_5518insAGCAGCGGC	c.(5515-5520)ggcggg>ggcAGCAGCGGCggg	p.1838_1839insGSS	NCOR2_ENST00000404121.2_In_Frame_Ins_p.1399_1400insGSS|NCOR2_ENST00000404621.1_In_Frame_Ins_p.1828_1829insGSS|NCOR2_ENST00000397355.1_In_Frame_Ins_p.1829_1830insGSS|NCOR2_ENST00000429285.2_In_Frame_Ins_p.1828_1829insGSS|NCOR2_ENST00000356219.3_In_Frame_Ins_p.1845_1846insGSS			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1849					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		cccccacccccgccgctgctgc	0.713														4762	0.950879	0.8979	0.9496	5008	,	,		14227	0.9633		0.9672	False		,,,				2504	0.9939				p.G1840delinsSSGG		.											.	NCOR2-229	0			c.5518_5519insAGCAGCGGC						.																																			SO:0001652	inframe_insertion	9612	exon39			CACCCCCGCCGCT	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5509_5517dupAGCAGCGGC	12.37:g.124824722_124824730dupGCCGCTGCT	ENSP00000384018:p.Gly1836_Ser1838dup	6	0		47	21	NM_006312	0	0	0	0	0	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	In_Frame_Ins	INS	ENST00000405201.1	37	CCDS41858.2																																																																																			.		0.713	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
KIAA1211	57482	hgsc.bcm.edu	37	4	57180576	57180577	+	In_Frame_Ins	INS	-	-	GGAGCGGAG	rs71921617|rs138358443|rs11276076	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr4:57180576_57180577insGGAGCGGAG	ENST00000504228.1	+	6	1013_1014	c.908_909insGGAGCGGAG	c.(907-912)gcggag>gcGGAGCGGAGggag	p.307_308insRRE	KIAA1211_ENST00000541073.1_In_Frame_Ins_p.300_301insRRE|KIAA1211_ENST00000264229.6_In_Frame_Ins_p.307_308insRRE			Q6ZU35	K1211_HUMAN	KIAA1211	307	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TGGGAGGACGCGGAGCGGAGGG	0.733																																					p.A303delinsAERR		.											.	KIAA1211-70	0			c.908_909insGGAGCGGAG						.																																			SO:0001652	inframe_insertion	57482	exon8			AGGACGCGGAGCG	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.909_917dupGGAGCGGAG	4.37:g.57180577_57180585dupGGAGCGGAG	ENSP00000423366:p.Arg305_Glu307dup	17	0		126	33	NM_020722	0	0	0	0	0	Q9NTE2|Q9NTP8|Q9ULK9	In_Frame_Ins	INS	ENST00000504228.1	37	CCDS43230.1																																																																																			.		0.733	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722	
PODXL	5420	hgsc.bcm.edu	37	7	131241029	131241030	+	In_Frame_Ins	INS	-	-	GGCGAC	rs11277659|rs547816245|rs532078953|rs79759078|rs571821675	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr7:131241029_131241030insGGCGAC	ENST00000378555.3	-	1	336_337	c.89_90insGTCGCC	c.(88-90)ccc>ccGTCGCCc	p.30_30P>PSP	PODXL_ENST00000322985.9_In_Frame_Ins_p.30_30P>PSP|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000541194.1_In_Frame_Ins_p.30_30P>PSP|PODXL_ENST00000537928.1_In_Frame_Ins_p.30_30P>PSP			O00592	PODXL_HUMAN	podocalyxin-like	30					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTGGGAGggcgacggcga	0.752																																					p.P30delinsPSP		.											.	PODXL-136	2	Deletion - In frame(2)	prostate(2)	c.90_91insGTCGCC						.																																			SO:0001652	inframe_insertion	5420	exon1			CTGGGAGGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89dupGTCGCC	7.37:g.131241030_131241035dupGGCGAC	ENSP00000367817:p.SerPro30dup	2	0		44	23	NM_005397	0	0	0	0	0	A6NHX8|Q52LZ7|Q53ER6	In_Frame_Ins	INS	ENST00000378555.3	37	CCDS34755.1																																																																																			.		0.752	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111	
LURAP1L	286343	bcgsc.ca	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707|rs139315731		TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(148-150)ggc>GGCGGCGGCggc	p.50_50G>GGGG	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	53	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688																																					p.G49delinsGGGG		.											.	.	3	Insertion - In frame(2)|Deletion - In frame(1)	large_intestine(1)|prostate(1)|central_nervous_system(1)	c.147_148insGGCGGCGGC						.																																			SO:0001652	inframe_insertion	286343	exon1			TGGTGGTGGCGGC	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.157_165dupGGCGGCGGC	9.37:g.12775862_12775870dupGGCGGCGGC	ENSP00000321026:p.GlyGlyGly53dup	38	0		50	22	NM_203403	0	0	0	0	0	Q5VZX7|Q8N923|Q8NCG2	In_Frame_Ins	INS	ENST00000319264.3	37	CCDS6473.1																																																																																			.		0.688	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403	
SPATA31C1	441452	hgsc.bcm.edu	37	9	90534192	90534193	+	RNA	INS	-	-	TCTTGTCTCCCAGCGTCA	rs567658963|rs536300617	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr9:90534192_90534193insTCTTGTCTCCCAGCGTCA	ENST00000602681.1	+	0	938_939							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCCAGCGTCATCTTGTCTCCC	0.594																																					p.H71delinsHLVSQRH		.											.	.	0			c.212_213insTCTTGTCTCCCAGCGTCA						.																																					441452	exon2			AGCGTCATCTTGT	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90534192_90534193insTCTTGTCTCCCAGCGTCA		379	0		261	0	NM_001145124	0	0	0	0	0		In_Frame_Ins	INS	ENST00000602681.1	37																																																																																				.		0.594	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124	
KNDC1	85442	hgsc.bcm.edu	37	10	135012429	135012430	+	Missense_Mutation	DNP	TT	TT	AC	rs386749477|rs3008390|rs3008389	byFrequency	TCGA-OR-A5LH-01A-11D-A29I-10	TCGA-OR-A5LH-10A-01D-A29L-10	TT	TT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	249e8468-e4e0-47ae-ad6e-ed43feac2004	8e5e2764-3193-4937-a8cf-d72cbf9b6353	g.chr10:135012429_135012430TT>AC	ENST00000304613.3	+	14	2438_2439	c.2417_2418TT>AC	c.(2416-2418)gTT>gAC	p.V806D	KNDC1_ENST00000368571.2_Missense_Mutation_p.V741D|KNDC1_ENST00000368572.2_Missense_Mutation_p.V806D			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	806	Pro-rich.			V -> D (in Ref. 1; BAD12625). {ECO:0000305}.	cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCACCTGGAGTTGCTTCCGGGG	0.748																																					p.V806D		.											.	KNDC1-229	0			c.T2418C						.																																			SO:0001583	missense	85442	exon14			TGGAGTTGCTTCC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	Exception_encountered	10.37:g.135012429_135012430delinsAC	ENSP00000304437:p.Val806Asp	1	0		9	0	NM_152643	0	0	0	0	0	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	DNP	ENST00000304613.3	37	CCDS7674.1																																																																																			T|0.470;C|0.530		0.748	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	
