#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
OPRD1	4985	hgsc.bcm.edu	37	1	29138975	29138975	+	Missense_Mutation	SNP	G	G	T	rs1042114	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:29138975G>T	ENST00000234961.2	+	1	322	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	27			C -> F (improved maturation and increased expression at the cell surface; dbSNP:rs1042114). {ECO:0000269|PubMed:10982041, ECO:0000269|PubMed:8201839, ECO:0000269|Ref.4}.		adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCTAGCGCCTGCCCCAGCGCT	0.771													T|||	4730	0.944489	0.9796	0.9193	5008	,	,		9147	1.0		0.8678	False		,,,				2504	0.9366				p.C27F		.											.	OPRD1-69	0			c.G80T						.	T	PHE/CYS	3689,115		1788,113,1	4.0	6.0	5.0	http://www.ncbi.nlm.nih.gov/omim/103780,165195|http://omim.org/entry/165195|http://omim.org/entry/103780	80	2.9	1.0	1	dbSNP_86	5	6762,846		2982,798,24	no	missense	OPRD1	NM_000911.3	205	4770,911,25	TT,TG,GG		11.1199,3.0231,8.421	benign	27/373	29138975	10451,961	1902	3804	5706	SO:0001583	missense	4985	exon1			GCGCCTGCCCCAG	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.80G>T	1.37:g.29138975G>T	ENSP00000234961:p.Cys27Phe	0	0		8	8	NM_000911	0	0	0	0	0	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	2035	0.9317765567765568	474	0.9634146341463414	331	0.914364640883978	572	1.0	658	0.8680738786279684	T	0.016	-1.513433	0.00975	0.969769	0.888801	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.67698	-0.28	4.0	2.89	0.33648	.	1.802200	0.02327	N	0.073605	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.41342	-0.9514	9	0.09338	T	0.73	.	3.8109	0.08796	0.0:0.1144:0.2238:0.6618	rs1042114;rs59349662;rs1042114	27	P41143	OPRD_HUMAN	F	27	ENSP00000234961:C27F	ENSP00000234961:C27F	C	+	2	0	OPRD1	29011562	0.002000	0.14202	0.992000	0.48379	0.116000	0.19942	0.521000	0.22893	0.713000	0.32060	-0.694000	0.03704	TGC	G|0.061;T|0.939		0.771	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911	
CCDC30	728621	bcgsc.ca	37	1	43047057	43047057	+	Silent	SNP	A	A	G	rs12037518	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:43047057A>G	ENST00000340612.4	+	7	1092	c.1092A>G	c.(1090-1092)gaA>gaG	p.E364E	CCDC30_ENST00000428554.2_Silent_p.E364E|CCDC30_ENST00000507855.1_Silent_p.E153E|CCDC30_ENST00000342022.4_Silent_p.E364E|CCDC30_ENST00000390640.4_Silent_p.E153E			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	364						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GGAAATTAGAACATGCTCATA	0.348													A|||	1397	0.278954	0.1702	0.1499	5008	,	,		18052	0.4395		0.1879	False		,,,				2504	0.4458				p.E364E		.											.	CCDC30-90	0			c.A1092G						.	A		792,3614	317.7+/-295.3	72,648,1483	89.0	93.0	92.0		1092	2.0	0.8	1	dbSNP_120	92	1708,6892	311.8+/-310.5	177,1354,2769	no	coding-synonymous	CCDC30	NM_001080850.2		249,2002,4252	GG,GA,AA		19.8605,17.9755,19.2219		364/784	43047057	2500,10506	2203	4300	6503	SO:0001819	synonymous_variant	728621	exon8			ATTAGAACATGCT	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1092A>G	1.37:g.43047057A>G		220	1		172	6	NM_001080850	0	0	6	6	0	Q14F06|Q5VVM5	Silent	SNP	ENST00000340612.4	37	CCDS30690.1																																																																																			A|0.811;G|0.189		0.348	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030	
CTH	1491	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	70904780	70904784	+	Splice_Site	DEL	ATAGC	ATAGC	-			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	ATAGC	ATAGC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:70904780_70904784delATAGC	ENST00000370938.3	+	12	1335_1336	c.1191_1192delATAGC	c.(1189-1194)gcatag>gcag	p.*398fs	CTH_ENST00000411986.2_Splice_Site_p.*366fs|CTH_ENST00000346806.2_Splice_Site_p.*354fs	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CACTGTTATTATAGCACCCTCCAAG	0.371																																					p.398_398del		.											.	CTH-91	0			c.1192_1192del						.																																			SO:0001630	splice_region_variant	1491	exon12			GTTATTATAGCAC	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.1192-1ATAGC>-	1.37:g.70904780_70904784delATAGC		132	0		84	33	NM_001902	0	0	0	0	0	O95791|Q9NX42	Frame_Shift_Del	DEL	ENST00000370938.3	37	CCDS650.1																																																																																			.		0.371	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902	Frame_Shift_Del
GPR88	54112	hgsc.bcm.edu	37	1	101005425	101005425	+	Silent	SNP	G	G	A	rs201200849	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:101005425G>A	ENST00000315033.4	+	2	1342	c.903G>A	c.(901-903)gtG>gtA	p.V301V		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	301					G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuronal action potential (GO:0019228)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		AGCCACTGGTGTGGGTGAGCC	0.736													G|||	2	0.000399361	0.0	0.0029	5008	,	,		8659	0.0		0.0	False		,,,				2504	0.0				p.V301V		.											.	GPR88-90	0			c.G903A						.	G		4,4118		0,4,2057	9.0	11.0	10.0		903	0.6	1.0	1		10	33,8169		0,33,4068	no	coding-synonymous	GPR88	NM_022049.2		0,37,6125	AA,AG,GG		0.4023,0.097,0.3002		301/385	101005425	37,12287	2061	4101	6162	SO:0001819	synonymous_variant	54112	exon2			ACTGGTGTGGGTG	AB042411	CCDS772.1	1p21.3	2012-08-21	2006-02-15		ENSG00000181656	ENSG00000181656		"""GPCR / Class A : Orphans"""	4539	protein-coding gene	gene with protein product		607468	"""G-protein coupled receptor 88"", ""G protein coupled receptor 88"""				Standard	NM_022049		Approved		uc001dth.3	Q9GZN0	OTTHUMG00000010981	ENST00000315033.4:c.903G>A	1.37:g.101005425G>A		0	0		11	10	NM_022049	0	0	0	0	0	Q29S24|Q6VN48	Silent	SNP	ENST00000315033.4	37	CCDS772.1																																																																																			G|0.993;A|0.007		0.736	GPR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030212.1	NM_022049	
RSBN1	54665	hgsc.bcm.edu	37	1	114354654	114354654	+	Silent	SNP	T	T	C	rs3195954	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:114354654T>C	ENST00000261441.5	-	1	444	c.381A>G	c.(379-381)ccA>ccG	p.P127P	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_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		2	0		15	11	NM_018364	0	0	0	3	3	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	
PLEKHO1	51177	ucsc.edu	37	1	150131221	150131221	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:150131221G>A	ENST00000369124.4	+	6	1011	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	PLEKHO1_ENST00000025469.6_Missense_Mutation_p.E211K|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.E62K	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	245	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCGACCTTGGGAAAAAACAGA	0.637																																					p.E245K		.											.	PLEKHO1-226	0			c.G733A						.						36.0	43.0	41.0					1																	150131221		2203	4300	6503	SO:0001583	missense	51177	exon6			CCTTGGGAAAAAA	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.733G>A	1.37:g.150131221G>A	ENSP00000358120:p.Glu245Lys	151	0		125	2	NM_016274	0	0	46	59	13	Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	ENST00000369124.4	37	CCDS945.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182749	0.78677	.	.	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124;ENST00000441340	T;T	0.49139	0.79;0.82	4.97	4.05	0.47172	.	0.359070	0.31963	N	0.006788	T	0.23410	0.0566	L	0.50333	1.59	0.38303	D	0.943042	B	0.32245	0.361	B	0.21708	0.036	T	0.06625	-1.0816	10	0.27785	T	0.31	-10.5391	14.501	0.67722	0.0:0.1477:0.8523:0.0	.	245	Q53GL0	PKHO1_HUMAN	K	62;211;245;125	ENSP00000025469:E211K;ENSP00000358120:E245K	ENSP00000025469:E211K	E	+	1	0	PLEKHO1	148397845	1.000000	0.71417	0.984000	0.44739	0.804000	0.45430	2.060000	0.41394	1.287000	0.44583	0.655000	0.94253	GAA	.		0.637	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274	
CEP350	9857	ucsc.edu;bcgsc.ca	37	1	179956383	179956383	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:179956383A>G	ENST00000367607.3	+	3	500	c.82A>G	c.(82-84)Acc>Gcc	p.T28A		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	28					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGCAGATATAACCACATCGTG	0.333																																					p.T28A		.											.	CEP350-26	0			c.A82G						.						82.0	78.0	79.0					1																	179956383		2203	4300	6503	SO:0001583	missense	9857	exon3			GATATAACCACAT	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.82A>G	1.37:g.179956383A>G	ENSP00000356579:p.Thr28Ala	57	0		34	4	NM_014810	0	0	0	0	0	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.953|7.953	0.745239|0.745239	0.15710|0.15710	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000491495|ENST00000367607;ENST00000357434	.|T	.|0.57436	.|0.4	4.78|4.78	2.43|2.43	0.29744|0.29744	.|.	.|0.278864	.|0.19818	.|U	.|0.105367	T|T	0.28665|0.28665	0.0710|0.0710	N|N	0.12182|0.12182	0.205|0.205	0.18873|0.18873	N|N	0.999983|0.999983	B|B;B	0.26602|0.22800	0.154|0.075;0.013	B|B;B	0.28011|0.19946	0.085|0.027;0.005	T|T	0.14200|0.14200	-1.0481|-1.0481	7|9	.|.	.|.	.|.	.|.	7.0399|7.0399	0.25015|0.25015	0.7414:0.0:0.2586:0.0|0.7414:0.0:0.2586:0.0	.|.	40|28;28	E9PIK0|E7EU22;Q5VT06	.|.;CE350_HUMAN	S|A	40|28;27	.|ENSP00000356579:T28A	.|.	N|T	+|+	2|1	0|0	CEP350|CEP350	178223006|178223006	0.950000|0.950000	0.32346|0.32346	0.903000|0.903000	0.35520|0.35520	0.322000|0.322000	0.28314|0.28314	0.962000|0.962000	0.29280|0.29280	0.780000|0.780000	0.33566|0.33566	0.397000|0.397000	0.26171|0.26171	AAC|ACC	.		0.333	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
RGL1	23179	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	183867009	183867009	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:183867009G>T	ENST00000360851.3	+	10	1386	c.1208G>T	c.(1207-1209)cGg>cTg	p.R403L	RGL1_ENST00000539189.1_Missense_Mutation_p.R403L|RGL1_ENST00000304685.4_Missense_Mutation_p.R438L|RGL1_ENST00000536277.1_Missense_Mutation_p.R401L			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	403	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						ACCCAGAGGCGGCTGCAGCTC	0.542																																					p.R438L		.											.	RGL1-725	0			c.G1313T						.						79.0	82.0	81.0					1																	183867009		2203	4300	6503	SO:0001583	missense	23179	exon11			AGAGGCGGCTGCA	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1208G>T	1.37:g.183867009G>T	ENSP00000354097:p.Arg403Leu	142	0		119	60	NM_015149	0	0	4	25	21	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37		.	.	.	.	.	.	.	.	.	.	G	32	5.109492	0.94292	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.50277	0.76;0.76;0.76;0.75;1.54	5.34	5.34	0.76211	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.70002	0.3174	M	0.78049	2.395	0.80722	D	1	D;D;B;D;D	0.89917	1.0;1.0;0.178;1.0;1.0	D;D;B;D;D	0.87578	0.997;0.998;0.276;0.998;0.998	T	0.67317	-0.5701	10	0.29301	T	0.29	.	19.028	0.92941	0.0:0.0:1.0:0.0	.	403;401;208;403;438	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	L	438;438;401;208;403;403	ENSP00000303192:R438L;ENSP00000356501:R438L;ENSP00000438662:R401L;ENSP00000354097:R403L;ENSP00000437355:R403L	ENSP00000303192:R438L	R	+	2	0	RGL1	182133632	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.505000	0.97989	2.496000	0.84212	0.655000	0.94253	CGG	.		0.542	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149	
IKBKE	9641	bcgsc.ca	37	1	206651107	206651107	+	Silent	SNP	G	G	A	rs2297545	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:206651107G>A	ENST00000367120.3	+	8	1090	c.717G>A	c.(715-717)acG>acA	p.T239T	IKBKE_ENST00000537984.1_Silent_p.T154T	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GGATCACCACGGAGAAGCCGG	0.652													G|||	1580	0.315495	0.1558	0.402	5008	,	,		15713	0.6131		0.2286	False		,,,				2504	0.2526				p.T239T		.											.	IKBKE-1061	0			c.G717A						.	G	,,	716,3650		56,604,1523	13.0	14.0	13.0		462,717,717	-9.1	0.1	1	dbSNP_100	13	1791,6755		176,1439,2658	no	coding-synonymous,coding-synonymous,coding-synonymous	IKBKE	NM_001193321.1,NM_001193322.1,NM_014002.3	,,	232,2043,4181	AA,AG,GG		20.9572,16.3995,19.416	,,	154/632,239/658,239/717	206651107	2507,10405	2183	4273	6456	SO:0001819	synonymous_variant	9641	exon8			CACCACGGAGAAG	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.717G>A	1.37:g.206651107G>A		161	0		123	6	NM_001193322	0	0	0	0	0	D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	ENST00000367120.3	37	CCDS30996.1																																																																																			G|0.745;A|0.255		0.652	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1		
KCTD3	51133	hgsc.bcm.edu	37	1	215741053	215741053	+	Missense_Mutation	SNP	T	T	G	rs2275768	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:215741053T>G	ENST00000259154.4	+	1	319	c.25T>G	c.(25-27)Ttc>Gtc	p.F9V		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	9			F -> V (in dbSNP:rs2275768). {ECO:0000269|PubMed:15489334}.		protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CTGCGGCAGCTTCCCCGCGGC	0.761													T|||	1459	0.291334	0.0605	0.2291	5008	,	,		8959	0.4276		0.2853	False		,,,				2504	0.5133				p.F9V		.											.	KCTD3-93	0			c.T25G						.	T	VAL/PHE	232,2814		17,198,1308	3.0	5.0	5.0		25	1.6	0.8	1	dbSNP_100	5	1189,4951		136,917,2017	no	missense	KCTD3	NM_016121.3	50	153,1115,3325	GG,GT,TT		19.3648,7.6165,15.4692	benign	9/816	215741053	1421,7765	1523	3070	4593	SO:0001583	missense	51133	exon1			GGCAGCTTCCCCG	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.25T>G	1.37:g.215741053T>G	ENSP00000259154:p.Phe9Val	0	0		8	7	NM_016121	1	0	0	9	8	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	CCDS1515.1	595	0.2724358974358974	34	0.06910569105691057	93	0.2569060773480663	249	0.4353146853146853	219	0.28891820580474936	T	10.24	1.294537	0.23564	0.076165	0.193648	ENSG00000136636	ENST00000259154;ENST00000366945	T	0.36520	1.25	2.8	1.63	0.23807	.	0.611401	0.14267	U	0.330439	T	0.00012	0.0000	L	0.27053	0.805	0.50813	P	1.0900000000002574E-4	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.001	T	0.48115	-0.9063	9	0.23891	T	0.37	-7.5445	6.7109	0.23276	0.0:0.2267:0.0:0.7733	rs2275768;rs17845401;rs17858259	9;9	Q9Y597-2;Q9Y597	.;KCTD3_HUMAN	V	9	ENSP00000259154:F9V	ENSP00000259154:F9V	F	+	1	0	KCTD3	213807676	0.045000	0.20229	0.833000	0.33012	0.447000	0.32167	0.628000	0.24522	0.293000	0.22520	0.254000	0.18369	TTC	T|0.721;G|0.279		0.761	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121	
OBSCN	84033	hgsc.bcm.edu	37	1	228399799	228399799	+	Silent	SNP	C	C	T	rs11582369	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:228399799C>T	ENST00000422127.1	+	2	359	c.315C>T	c.(313-315)tgC>tgT	p.C105C	C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000570156.2_Silent_p.C105C|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.C105C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	105					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)				AGGCCGCGTGCGCCGAGCAGG	0.736													C|||	254	0.0507188	0.0129	0.0591	5008	,	,		8585	0.121		0.0338	False		,,,				2504	0.0409				p.C105C		.											.	OBSCN-403	0			c.C315T						.	C	,	63,3177		0,63,1557	6.0	7.0	6.0		315,315	-4.9	0.0	1	dbSNP_120	6	259,6741		4,251,3245	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	4,314,4802	TT,TC,CC		3.7,1.9444,3.1445	,	105/7969,105/6621	228399799	322,9918	1620	3500	5120	SO:0001819	synonymous_variant	84033	exon2			CGCGTGCGCCGAG	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.315C>T	1.37:g.228399799C>T		0	0		11	11	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	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			C|0.943;T|0.057		0.736	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	hgsc.bcm.edu	37	1	228399803	228399803	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:228399803G>C	ENST00000422127.1	+	2	363	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000570156.2_Missense_Mutation_p.E107Q|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E107Q	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	107					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)				CGCGTGCGCCGAGCAGGCGCC	0.741																																					p.E107Q		.											.	OBSCN-403	0			c.G319C						.						6.0	6.0	6.0					1																	228399803		1584	3420	5004	SO:0001583	missense	84033	exon2			TGCGCCGAGCAGG	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.319G>C	1.37:g.228399803G>C	ENSP00000409493:p.Glu107Gln	0	0		10	10	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	.	.	.	.	.	.	.	.	.	.	G	9.243	1.038879	0.19669	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.62941	0.41;-0.01	4.57	1.26	0.21427	Immunoglobulin-like fold (1);	0.199030	0.32836	N	0.005581	T	0.38268	0.1034	N	0.17901	0.54	0.80722	D	1	P;P	0.35714	0.517;0.477	B;B	0.36186	0.185;0.219	T	0.05784	-1.0864	10	0.15066	T	0.55	.	5.4525	0.16572	0.0793:0.1408:0.6345:0.1454	.	107;107	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Q	107	ENSP00000284548:E107Q;ENSP00000409493:E107Q	ENSP00000284548:E107Q	E	+	1	0	OBSCN	226466426	1.000000	0.71417	0.342000	0.25602	0.005000	0.04900	5.963000	0.70372	0.317000	0.23160	-0.300000	0.09419	GAG	.		0.741	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	hgsc.bcm.edu	37	1	228504669	228504669	+	Silent	SNP	G	G	A	rs61825302	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr1:228504669G>A	ENST00000422127.1	+	51	13589	c.13545G>A	c.(13543-13545)gcG>gcA	p.A4515A	OBSCN_ENST00000366707.4_Silent_p.A2149A|OBSCN_ENST00000284548.11_Silent_p.A4515A|OBSCN_ENST00000570156.2_Silent_p.A5472A|OBSCN_ENST00000366709.4_Silent_p.A1634A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4515	Ig-like 46.				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)				TGGCCTCTGCGCGGCTCACCG	0.731													g|||	729	0.145567	0.1218	0.2349	5008	,	,		13931	0.1518		0.159	False		,,,				2504	0.0941				p.A5472A		.											.	OBSCN-403	0			c.G16416A						.		,	507,3253		36,435,1409	5.0	6.0	6.0		13545,13545	-6.2	0.0	1	dbSNP_129	6	1105,6501		71,963,2769	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	107,1398,4178	AA,AG,GG		14.528,13.484,14.1827	,	4515/7969,4515/6621	228504669	1612,9754	1880	3803	5683	SO:0001819	synonymous_variant	84033	exon62			CTCTGCGCGGCTC	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.13545G>A	1.37:g.228504669G>A		0	0		8	6	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	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			G|0.841;A|0.159		0.731	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
CSGALNACT2	55454	broad.mit.edu	37	10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	rs79064394		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	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	139	0		140	4	NM_018590	0	0	9	9	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	
ARHGAP22	58504	hgsc.bcm.edu	37	10	49659006	49659006	+	Missense_Mutation	SNP	G	G	A	rs80345791	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr10:49659006G>A	ENST00000249601.4	-	9	1462	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L	ARHGAP22_ENST00000417247.2_Missense_Mutation_p.P299L|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.P405L|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.P280L|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.P395L|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.P222L|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.P230L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	389					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGTGCGCGGGCAGGCCGGG	0.761													G|||	40	0.00798722	0.0008	0.0115	5008	,	,		12686	0.0		0.0288	False		,,,				2504	0.002				p.P405L		.											.	ARHGAP22-228	0			c.C1214T						.	G	LEU/PRO	9,4077		0,9,2034	5.0	6.0	6.0		1166	4.3	0.5	10	dbSNP_131	6	110,7946		2,106,3920	no	missense	ARHGAP22	NM_021226.2	98	2,115,5954	AA,AG,GG		1.3654,0.2203,0.9801	benign	389/699	49659006	119,12023	2043	4028	6071	SO:0001583	missense	58504	exon9			TGCGCGGGCAGGC	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.1166C>T	10.37:g.49659006G>A	ENSP00000249601:p.Pro389Leu	0	0		13	10	NM_001256024	0	0	0	2	2	A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	CCDS7227.1	29	0.013278388278388278	0	0.0	7	0.019337016574585635	0	0.0	22	0.029023746701846966	G	8.393	0.840164	0.16891	0.002203	0.013654	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000477708;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T;T	0.26518	2.87;2.54;1.73;2.13;2.53;2.83;2.88	5.2	4.3	0.51218	.	0.373141	0.31123	N	0.008203	T	0.10809	0.0264	M	0.72894	2.215	0.18873	N	0.999982	B;B;B;B;B;B	0.29188	0.001;0.001;0.037;0.002;0.002;0.236	B;B;B;B;B;B	0.30251	0.003;0.004;0.024;0.004;0.007;0.113	T	0.07501	-1.0769	10	0.35671	T	0.21	.	10.957	0.47364	0.0867:0.0:0.9133:0.0	.	395;389;405;389;299;222	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3;D6R9V6	.;.;.;RHG22_HUMAN;.;.	L	389;280;230;222;299;395;405	ENSP00000249601:P389L;ENSP00000363287:P280L;ENSP00000363285:P230L;ENSP00000422868:P222L;ENSP00000410054:P299L;ENSP00000416701:P395L;ENSP00000412461:P405L	ENSP00000249601:P389L	P	-	2	0	ARHGAP22	49329012	0.179000	0.23135	0.481000	0.27354	0.053000	0.15095	1.605000	0.36815	1.204000	0.43247	0.313000	0.20887	CCC	G|0.987;A|0.013		0.761	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226	
GLUD1	2746	broad.mit.edu	37	10	88817461	88817461	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr10:88817461T>C	ENST00000277865.4	-	11	1577	c.1481A>G	c.(1480-1482)cAa>cGa	p.Q494R	GLUD1_ENST00000465164.1_5'Flank|GLUD1_ENST00000544149.1_Missense_Mutation_p.Q361R|GLUD1_ENST00000537649.1_Missense_Mutation_p.Q327R	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	494					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	TATCCTGTCTTGGAACTCTGC	0.438																																					p.Q494R		.											.	GLUD1-90	0			c.A1481G	GRCh37	CM001179	GLUD1	M		.						201.0	180.0	187.0					10																	88817461		2203	4300	6503	SO:0001583	missense	2746	exon11			CTGTCTTGGAACT	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.1481A>G	10.37:g.88817461T>C	ENSP00000277865:p.Gln494Arg	123	0		82	4	NM_005271	0	0	0	0	0	B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.686598	0.47991	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	D;D;D	0.96265	-3.96;-3.96;-3.96	4.98	4.98	0.66077	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92335	0.7568	N	0.25647	0.755	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.12156	0.003;0.007	D	0.89108	0.3494	10	0.28530	T	0.3	.	14.996	0.71431	0.0:0.0:0.0:1.0	.	361;494	B4DGN5;P00367	.;DHE3_HUMAN	R	494;451;327;193;426;361	ENSP00000277865:Q494R;ENSP00000439291:Q327R;ENSP00000444732:Q361R	ENSP00000277865:Q494R	Q	-	2	0	GLUD1	88807441	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.669000	0.83911	2.011000	0.59026	0.248000	0.18094	CAA	.		0.438	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271	
TBC1D12	23232	hgsc.bcm.edu	37	10	96163039	96163039	+	Silent	SNP	C	C	G	rs2477534	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr10:96163039C>G	ENST00000225235.4	+	1	779	c.669C>G	c.(667-669)ccC>ccG	p.P223P		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	223							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GGGACAGCCCCGCCAGCAGCT	0.751													G|||	3411	0.68111	0.6165	0.5648	5008	,	,		8936	0.8373		0.6342	False		,,,				2504	0.7382				p.P223P		.											.	TBC1D12-68	0			c.C669G						.	G		1895,863		709,477,193	2.0	3.0	3.0		669	-2.0	0.0	10	dbSNP_100	3	4435,1895		1664,1107,394	yes	coding-synonymous	TBC1D12	NM_015188.1		2373,1584,587	GG,GC,CC		29.9368,31.2908,30.3477		223/776	96163039	6330,2758	1379	3165	4544	SO:0001819	synonymous_variant	23232	exon1			CAGCCCCGCCAGC	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.669C>G	10.37:g.96163039C>G		0	0		14	14	NM_015188	0	0	0	0	0	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	CCDS41553.1																																																																																			C|0.339;G|0.661		0.751	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2		
MKI67	4288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	129913821	129913821	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr10:129913821G>T	ENST00000368654.3	-	7	1226	c.851C>A	c.(850-852)aCc>aAc	p.T284N	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	284					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAACAGTTGGGTCTCCCCCTG	0.458																																					p.T284N		.											.	MKI67-519	0			c.C851A						.						89.0	94.0	92.0					10																	129913821		2203	4300	6503	SO:0001583	missense	4288	exon7			AGTTGGGTCTCCC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.851C>A	10.37:g.129913821G>T	ENSP00000357643:p.Thr284Asn	88	0		69	40	NM_002417	0	0	0	0	0	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654793	0.47467	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.23754	1.89	3.59	-0.799	0.10901	.	0.785086	0.11327	N	0.575439	T	0.14917	0.0360	L	0.32530	0.975	0.09310	N	1	B	0.24963	0.115	B	0.19666	0.026	T	0.28650	-1.0037	10	0.87932	D	0	.	1.5943	0.02660	0.1148:0.1824:0.3177:0.3851	.	284	P46013	KI67_HUMAN	N	284	ENSP00000357643:T284N	ENSP00000357643:T284N	T	-	2	0	MKI67	129803811	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.204000	0.17335	-0.133000	0.11537	0.655000	0.94253	ACC	.		0.458	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
PWWP2B	170394	hgsc.bcm.edu	37	10	134218296	134218296	+	Missense_Mutation	SNP	C	C	G	rs10747057	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr10:134218296C>G	ENST00000305233.5	+	2	351	c.292C>G	c.(292-294)Cgc>Ggc	p.R98G	PWWP2B_ENST00000368609.4_Missense_Mutation_p.R98G	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	98	Pro-rich.		R -> G (in dbSNP:rs10747057). {ECO:0000269|PubMed:15489334}.							central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGAGACCACCCGCCCCGAGCC	0.756													G|||	2967	0.592452	0.7065	0.5461	5008	,	,		5878	0.6954		0.4563	False		,,,				2504	0.5051				p.R98G		.											.	PWWP2B-90	0			c.C292G						.	G	GLY/ARG,GLY/ARG	2822,1070		1079,664,203	6.0	9.0	8.0		292,292	2.8	0.0	10	dbSNP_120	8	3931,3905		1096,1739,1083	no	missense,missense	PWWP2B	NM_001098637.1,NM_138499.3	125,125	2175,2403,1286	GG,GC,CC		49.8341,27.4923,42.4198	benign,benign	98/500,98/591	134218296	6753,4975	1946	3918	5864	SO:0001583	missense	170394	exon2			ACCACCCGCCCCG	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.292C>G	10.37:g.134218296C>G	ENSP00000306324:p.Arg98Gly	0	0		7	6	NM_001098637	0	0	0	21	21	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	CCDS7667.2	1241	0.5682234432234432	337	0.6849593495934959	177	0.4889502762430939	394	0.6888111888111889	333	0.4393139841688654	G	0.032	-1.327586	0.01309	0.725077	0.501659	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.54675	0.56;1.56	2.77	2.77	0.32553	.	1.934230	0.03132	N	0.165319	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44003	-0.9356	9	0.23302	T	0.38	0.1321	1.7392	0.02948	0.1217:0.2122:0.4474:0.2187	rs10747057;rs57970936	98	Q6NUJ5	PWP2B_HUMAN	G	98	ENSP00000306324:R98G;ENSP00000357598:R98G	ENSP00000306324:R98G	R	+	1	0	PWWP2B	134068286	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-1.230000	0.02942	0.744000	0.32741	-0.224000	0.12420	CGC	C|0.431;G|0.569		0.756	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499	
PWWP2B	170394	hgsc.bcm.edu	37	10	134219045	134219045	+	Silent	SNP	C	C	T	rs11146364	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr10:134219045C>T	ENST00000305233.5	+	2	1100	c.1041C>T	c.(1039-1041)ccC>ccT	p.P347P	PWWP2B_ENST00000368609.4_Silent_p.P347P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	347										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		AGCACGAGCCCGTGTACCGGG	0.721													C|||	820	0.163738	0.2027	0.2104	5008	,	,		13504	0.1429		0.1074	False		,,,				2504	0.1575				p.P347P		.											.	PWWP2B-90	0			c.C1041T						.	C	,	636,3612		51,534,1539	16.0	21.0	20.0		1041,1041	-2.7	0.1	10	dbSNP_120	20	704,7662		24,656,3503	yes	coding-synonymous,coding-synonymous	PWWP2B	NM_001098637.1,NM_138499.3	,	75,1190,5042	TT,TC,CC		8.415,14.9718,10.6231	,	347/500,347/591	134219045	1340,11274	2124	4183	6307	SO:0001819	synonymous_variant	170394	exon2			CGAGCCCGTGTAC	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1041C>T	10.37:g.134219045C>T		1	0		5	5	NM_001098637	0	0	2	65	63	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	CCDS7667.2																																																																																			C|0.860;T|0.140		0.721	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499	
MUC5B	727897	hgsc.bcm.edu	37	11	1253976	1253976	+	Missense_Mutation	SNP	A	A	G	rs76956995		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr11:1253976A>G	ENST00000529681.1	+	17	2099	c.2041A>G	c.(2041-2043)Agc>Ggc	p.S681G	MUC5B_ENST00000447027.1_Missense_Mutation_p.S684G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	681					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)		CGTACAGCTCAGCGACTGGAG	0.687																																					p.S681G		.											.	.	0			c.A2041G						.						22.0	25.0	24.0					11																	1253976		2121	4235	6356	SO:0001583	missense	727897	exon17			CAGCTCAGCGACT	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.2041A>G	11.37:g.1253976A>G	ENSP00000436812:p.Ser681Gly	31	0		100	7	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	5.230	0.228008	0.09916	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76578	-1.03;-1.03	4.6	-7.0	0.01599	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.70605	0.3243	N	0.25144	0.715	0.09310	N	1	B;D;D	0.59357	0.425;0.985;0.985	B;P;P	0.54499	0.131;0.675;0.754	T	0.69614	-0.5098	9	0.87932	D	0	.	10.9271	0.47197	0.2958:0.5687:0.1355:0.0	.	681;1340;684	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	681;684;682;717	ENSP00000436812:S681G;ENSP00000415793:S684G	ENSP00000343037:S682G	S	+	1	0	MUC5B	1210552	0.000000	0.05858	0.011000	0.14972	0.067000	0.16453	-4.642000	0.00204	-1.098000	0.03038	0.260000	0.18958	AGC	.		0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MUC5B	727897	hgsc.bcm.edu	37	11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	rs202127660		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	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	29	0		97	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	
LSP1	4046	broad.mit.edu	37	11	1887806	1887806	+	Intron	SNP	T	T	A	rs7938342	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr11:1887806T>A	ENST00000311604.3	+	1	228				LSP1_ENST00000381775.1_Missense_Mutation_p.H34Q|AC051649.12_ENST00000509204.1_RNA|LSP1_ENST00000405957.2_5'Flank	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1						cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GCACACCTCATCCCAGCCTCC	0.657													T|||	3127	0.624401	0.531	0.7622	5008	,	,		13459	0.7688		0.6322	False		,,,				2504	0.4959				p.H34Q		.											.	LSP1-90	0			c.T102A						.																																			SO:0001627	intron_variant	4046	exon2			ACCTCATCCCAGC	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.53+13379T>A	11.37:g.1887806T>A		65	0		59	4	NM_001242932	0	0	3	3	0	B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	ENST00000311604.3	37	CCDS31334.1	1429	0.6543040293040293	268	0.5447154471544715	249	0.6878453038674033	460	0.8041958041958042	452	0.5963060686015831	t	12.20	1.867727	0.32977	.	.	ENSG00000130592	ENST00000381775	T	0.26518	1.73	1.8	-0.645	0.11475	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	P	0.35982	0.531	B	0.29598	0.104	T	0.42515	-0.9447	7	0.02654	T	1	.	4.2569	0.10721	0.0:0.3731:0.0:0.6269	rs7938342;rs57757026	34	E9PFP3	.	Q	34	ENSP00000371194:H34Q	ENSP00000371194:H34Q	H	+	3	2	LSP1	1844382	0.000000	0.05858	0.000000	0.03702	0.672000	0.39443	-1.399000	0.02506	-0.182000	0.10602	0.172000	0.16884	CAT	T|0.345;A|0.655		0.657	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339	
ANO5	203859	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	22279254	22279254	+	Missense_Mutation	SNP	C	C	T	rs148698633		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr11:22279254C>T	ENST00000324559.8	+	14	1678	c.1361C>T	c.(1360-1362)aCg>aTg	p.T454M		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	454					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTCTATACACGCGTATTCCA	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		19759	0.001		0.0	False		,,,				2504	0.0				p.T454M		.											.	ANO5-515	0			c.C1361T						.	C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	166.0	156.0	159.0		1358,1361	-4.1	0.0	11	dbSNP_134	159	0,8600		0,0,4300	yes	missense,missense	ANO5	NM_001142649.1,NM_213599.2	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	453/913,454/914	22279254	1,13005	2203	4300	6503	SO:0001583	missense	203859	exon14			TATACACGCGTAT	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1361C>T	11.37:g.22279254C>T	ENSP00000315371:p.Thr454Met	107	0		87	42	NM_213599	0	0	0	6	6		Missense_Mutation	SNP	ENST00000324559.8	37	CCDS31444.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	8.271	0.813309	0.16537	2.27E-4	0.0	ENSG00000171714	ENST00000324559	T	0.64085	-0.08	5.71	-4.14	0.03892	.	0.567977	0.21905	N	0.067400	T	0.36853	0.0982	N	0.14661	0.345	0.09310	N	1	B	0.17667	0.023	B	0.21708	0.036	T	0.09378	-1.0677	10	0.45353	T	0.12	.	7.3399	0.26632	0.3349:0.2129:0.4521:0.0	.	454	Q75V66	ANO5_HUMAN	M	454	ENSP00000315371:T454M	ENSP00000315371:T454M	T	+	2	0	ANO5	22235830	0.113000	0.22115	0.000000	0.03702	0.068000	0.16541	0.881000	0.28173	-1.272000	0.02427	0.460000	0.39030	ACG	C|1.000;T|0.000		0.373	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	
CST6	1474	hgsc.bcm.edu	37	11	65779590	65779590	+	Silent	SNP	C	C	T	rs1131544	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr11:65779590C>T	ENST00000312134.2	+	1	279	c.75C>T	c.(73-75)gaC>gaT	p.D25D		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	25					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			large_intestine(1)|lung(1)|ovary(1)	3						TGCCACGCGACGCCCGGGCCC	0.746													C|||	356	0.0710863	0.0219	0.0922	5008	,	,		12347	0.001		0.162	False		,,,				2504	0.1012				p.D25D		.											.	CST6-523	0			c.C75T						.	C		164,3936		5,154,1891	5.0	6.0	5.0		75	-4.6	0.0	11	dbSNP_86	5	1227,6867		88,1051,2908	no	coding-synonymous	CST6	NM_001323.3		93,1205,4799	TT,TC,CC		15.1594,4.0,11.4072		25/150	65779590	1391,10803	2050	4047	6097	SO:0001819	synonymous_variant	1474	exon1			ACGCGACGCCCGG	U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.75C>T	11.37:g.65779590C>T		0	0		5	5	NM_001323	0	0	0	0	0	Q540N7	Silent	SNP	ENST00000312134.2	37	CCDS8126.1																																																																																			C|0.921;T|0.079		0.746	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391348.1	NM_001323	
TNFRSF1A	7132	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	6439136	6439136	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr12:6439136G>C	ENST00000162749.2	-	9	1164	c.865C>G	c.(865-867)Ccc>Gcc	p.P289A	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.P246A|TNFRSF1A_ENST00000437813.3_5'Flank	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	289					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						gtggaactgggcacgggactg	0.622																																					p.P289A		.											.	TNFRSF1A-659	0			c.C865G						.						37.0	42.0	41.0					12																	6439136		2192	4289	6481	SO:0001583	missense	7132	exon9			AACTGGGCACGGG	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.865C>G	12.37:g.6439136G>C	ENSP00000162749:p.Pro289Ala	30	0		38	14	NM_001065	0	0	185	319	134	A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	g	6.123	0.390999	0.11581	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	D;D	0.92752	-3.1;-3.06	3.35	2.46	0.29980	.	3.595680	0.00695	N	0.000740	D	0.87434	0.6176	L	0.34521	1.04	0.09310	N	0.999999	P;B	0.37955	0.612;0.278	B;B	0.35182	0.197;0.084	T	0.77362	-0.2616	9	.	.	.	-4.6013	6.6302	0.22853	0.1354:0.0:0.8646:0.0	.	246;289	F5H061;P19438	.;TNR1A_HUMAN	A	289;246	ENSP00000162749:P289A;ENSP00000438343:P246A	.	P	-	1	0	TNFRSF1A	6309397	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.019000	0.12546	0.741000	0.32674	0.556000	0.70494	CCC	.		0.622	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065	
LRIG3	121227	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	59268001	59268001	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr12:59268001C>T	ENST00000320743.3	-	18	3237	c.2951G>A	c.(2950-2952)aGc>aAc	p.S984N	LRIG3_ENST00000379141.4_Missense_Mutation_p.S924N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	984					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATTACTGAAGCTCCGTTCGCA	0.418			T	ROS1	NSCLC																																p.S984N		.		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	.	LRIG3-229	0			c.G2951A						.						95.0	93.0	93.0					12																	59268001		2203	4300	6503	SO:0001583	missense	121227	exon18			CTGAAGCTCCGTT	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2951G>A	12.37:g.59268001C>T	ENSP00000326759:p.Ser984Asn	181	0		227	76	NM_153377	0	0	8	14	6	Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	1.776	-0.483255	0.04383	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.59224	0.31;0.28	5.83	2.68	0.31781	.	0.591077	0.14258	N	0.330966	T	0.27384	0.0672	N	0.02539	-0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.18935	-1.0321	9	.	.	.	.	8.102	0.30863	0.0:0.647:0.0:0.353	.	924;984	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	N	924;984	ENSP00000368436:S924N;ENSP00000326759:S984N	.	S	-	2	0	LRIG3	57554268	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.332000	0.19751	0.818000	0.34468	-0.142000	0.14014	AGC	.		0.418	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	
TMCO3	55002	bcgsc.ca	37	13	114152755	114152755	+	Silent	SNP	C	C	T	rs2260218	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr13:114152755C>T	ENST00000434316.2	+	3	902	c.543C>T	c.(541-543)gaC>gaT	p.D181D	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Silent_p.D181D	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	181						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CCATGCTTGACGAGATTCTTG	0.398													.|||	1019	0.203474	0.4092	0.1369	5008	,	,		19525	0.1488		0.1292	False		,,,				2504	0.1053				p.D181D		.											.	TMCO3-90	0			c.C543T						.	C		1511,2895	481.5+/-359.1	256,999,948	133.0	130.0	131.0		543	-3.9	0.0	13	dbSNP_100	131	1089,7511	226.6+/-262.3	62,965,3273	no	coding-synonymous	TMCO3	NM_017905.4		318,1964,4221	TT,TC,CC		12.6628,34.2941,19.9908		181/678	114152755	2600,10406	2203	4300	6503	SO:0001819	synonymous_variant	55002	exon3			GCTTGACGAGATT	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.543C>T	13.37:g.114152755C>T		129	0		99	8	NM_017905	0	0	37	37	0	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	ENST00000434316.2	37	CCDS9537.1																																																																																			C|0.795;T|0.205		0.398	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905	
ATP10A	57194	bcgsc.ca	37	15	25926186	25926186	+	Silent	SNP	G	G	A	rs2076743	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr15:25926186G>A	ENST00000356865.6	-	18	3639	c.3528C>T	c.(3526-3528)gcC>gcT	p.A1176A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1176					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGGCGGCGTCGGCCATGTTAA	0.512													G|||	3395	0.677915	0.8094	0.7147	5008	,	,		17707	0.6121		0.6123	False		,,,				2504	0.6094				p.A1176A		.											.	ATP10A-139	0			c.C3528T						.	G		3525,881	742.5+/-411.4	1413,699,91	84.0	81.0	82.0		3528	-9.7	0.0	15	dbSNP_96	82	5320,3280	647.2+/-400.4	1655,2010,635	no	coding-synonymous	ATP10A	NM_024490.3		3068,2709,726	AA,AG,GG		38.1395,19.9955,31.9929		1176/1500	25926186	8845,4161	2203	4300	6503	SO:0001819	synonymous_variant	57194	exon18			GGCGTCGGCCATG	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3528C>T	15.37:g.25926186G>A		242	4		216	7	NM_024490	0	0	3	3	0	Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	CCDS32178.1																																																																																			G|0.329;A|0.671		0.512	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
KBTBD13	390594	hgsc.bcm.edu	37	15	65369395	65369395	+	Missense_Mutation	SNP	C	C	T	rs2919358	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr15:65369395C>T	ENST00000432196.2	+	1	242	c.242C>T	c.(241-243)gCc>gTc	p.A81V	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	81					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						CTGCTGCAGGCCGTGGAGTGC	0.736													C|||	2613	0.521765	0.6036	0.5447	5008	,	,		9840	0.7312		0.3887	False		,,,				2504	0.316				p.A81V		.											.	.	0			c.C242T						.	C	VAL/ALA	1463,1441		405,653,394	2.0	3.0	2.0		242	4.6	1.0	15	dbSNP_101	2	2172,4110		500,1172,1469	no	missense	KBTBD13	NM_001101362.2	64	905,1825,1863	TT,TC,CC		34.575,49.6212,39.5711	possibly-damaging	81/459	65369395	3635,5551	1452	3141	4593	SO:0001583	missense	390594	exon1			TGCAGGCCGTGGA		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"""BTB/POZ domain containing"""	37227	protein-coding gene	gene with protein product	"""nemaline myopathy type 6"""	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.242C>T	15.37:g.65369395C>T	ENSP00000388723:p.Ala81Val	1	0		7	7	NM_001101362	0	0	0	0	0		Missense_Mutation	SNP	ENST00000432196.2	37	CCDS45281.1	1197	0.5480769230769231	302	0.6138211382113821	191	0.5276243093922652	410	0.7167832167832168	294	0.38786279683377306	C	20.9	4.061996	0.76187	0.503788	0.34575	ENSG00000234438	ENST00000432196	T	0.67865	-0.29	4.6	4.6	0.57074	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.00012	0.0000	N	0.21324	0.655	0.22629	P	0.99891774	P	0.47034	0.889	P	0.50896	0.653	T	0.37753	-0.9692	8	0.26408	T	0.33	.	17.2241	0.86964	0.0:1.0:0.0:0.0	rs2919358	81	C9JR72	KBTBD_HUMAN	V	81	ENSP00000388723:A81V	ENSP00000388723:A81V	A	+	2	0	KBTBD13	63156448	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.251000	0.78297	2.390000	0.81377	0.650000	0.86243	GCC	C|0.452;T|0.548		0.736	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362	
CAPN15	6650	hgsc.bcm.edu	37	16	597453	597453	+	Silent	SNP	C	C	T	rs141612773		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr16:597453C>T	ENST00000219611.2	+	4	978	c.615C>T	c.(613-615)ccC>ccT	p.P205P	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	205					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTGGCCTCCCCGGGGAAGGTG	0.741																																					p.P205P		.											.	SOLH-523	0			c.C615T						.						6.0	10.0	9.0					16																	597453		1986	3998	5984	SO:0001819	synonymous_variant	6650	exon4			CCTCCCCGGGGAA	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.615C>T	16.37:g.597453C>T		0	0		11	9	NM_005632	0	0	3	10	7	B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	ENST00000219611.2	37	CCDS10410.1																																																																																			C|0.999;T|0.001		0.741	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632	
SPIRE2	84501	bcgsc.ca	37	16	89921057	89921057	+	Missense_Mutation	SNP	A	A	G	rs139065194		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr16:89921057A>G	ENST00000378247.3	+	5	932	c.889A>G	c.(889-891)Atg>Gtg	p.M297V	SPIRE2_ENST00000393062.2_Missense_Mutation_p.M297V	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	297					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GCGCAAGGTCATGGTGAGCGG	0.652																																					p.M297V		.											.	SPIRE2-90	0			c.A889G						.	A	VAL/MET	0,4390		0,0,2195	61.0	62.0	62.0		889	5.2	1.0	16	dbSNP_134	62	1,8589	1.2+/-3.3	0,1,4294	yes	missense	SPIRE2	NM_032451.1	21	0,1,6489	GG,GA,AA		0.0116,0.0,0.0077	benign	297/715	89921057	1,12979	2195	4295	6490	SO:0001583	missense	84501	exon5			AAGGTCATGGTGA	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.889A>G	16.37:g.89921057A>G	ENSP00000367494:p.Met297Val	129	0		202	19	NM_032451	0	0	0	0	0	A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.040345	0.75732	0.0	1.16E-4	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.49139	0.79;0.79	5.22	5.22	0.72569	.	0.035075	0.85682	D	0.000000	T	0.58793	0.2147	M	0.71036	2.16	0.80722	D	1	B;P;B	0.46859	0.095;0.885;0.095	B;P;B	0.51229	0.09;0.663;0.09	T	0.62779	-0.6782	10	0.54805	T	0.06	-57.4475	14.2172	0.65800	1.0:0.0:0.0:0.0	.	297;249;297	Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;SPIR2_HUMAN	V	297	ENSP00000367494:M297V;ENSP00000376782:M297V	ENSP00000367494:M297V	M	+	1	0	SPIRE2	88448558	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.611000	0.61162	2.106000	0.64143	0.459000	0.35465	ATG	A|1.000;G|0.000		0.652	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462	
C17orf97	400566	hgsc.bcm.edu	37	17	260182	260182	+	Silent	SNP	T	T	C	rs7502594	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr17:260182T>C	ENST00000571106.1	+	1	55	c.49T>C	c.(49-51)Tta>Cta	p.L17L	C17orf97_ENST00000360127.6_Silent_p.L17L|AC108004.3_ENST00000466740.2_RNA|AC108004.3_ENST00000599026.1_RNA			Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	17										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GAGTCGCCGATTAGTCGGCAT	0.751													c|||	1929	0.385184	0.6286	0.2666	5008	,	,		13427	0.3125		0.2396	False		,,,				2504	0.365				p.L17L		.											.	C17orf97-91	0			c.T49C						.			1512,2124		272,968,578	3.0	4.0	4.0		49	2.9	0.0	17	dbSNP_116	4	1503,5991		176,1151,2420	no	coding-synonymous	C17orf97	NM_001013672.4		448,2119,2998	CC,CT,TT		20.056,41.5842,27.0889		17/424	260182	3015,8115	1818	3747	5565	SO:0001819	synonymous_variant	400566	exon1			CGCCGATTAGTCG	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000571106.1:c.49T>C	17.37:g.260182T>C		1	0		12	10	NM_001013672	0	0	0	1	1	A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	ENST00000571106.1	37																																																																																				T|0.657;C|0.343		0.751	C17orf97-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000436874.1	NM_001013672	
SMG6	23293	ucsc.edu	37	17	2203570	2203570	+	Silent	SNP	G	G	C	rs150211793	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr17:2203570G>C	ENST00000263073.6	-	2	527	c.477C>G	c.(475-477)tcC>tcG	p.S159S	SMG6_ENST00000544865.1_Silent_p.S128S	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	159	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCCGACTGGCGGATTCTTTGC	0.473																																					p.S159S	Melanoma(59;28 1088 11621 25887 46638 50814)	.											.	SMG6-228	0			c.C477G						.						150.0	164.0	159.0					17																	2203570		2203	4300	6503	SO:0001819	synonymous_variant	23293	exon2			ACTGGCGGATTCT	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.477C>G	17.37:g.2203570G>C		42	0		29	4	NM_017575	0	0	12	12	0	B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	CCDS11016.1																																																																																			G|1.000;A|0.000		0.473	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3		
KRTAP4-11	653240	broad.mit.edu	37	17	39274518	39274518	+	Missense_Mutation	SNP	C	C	T	rs9897031	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr17:39274518C>T	ENST00000391413.2	-	1	88	c.50G>A	c.(49-51)cGa>cAa	p.R17Q		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	17	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].			R -> Q (in Ref. 1; CAC27583 and 3; AAI26132/AAI30563). {ECO:0000305}.		keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGAGGTCTCGGCCACAGCC	0.592													t|||	3444	0.6877	0.9622	0.6686	5008	,	,		17251	0.4306		0.7137	False		,,,				2504	0.5685				p.R17Q		.											.	.	0			c.G50A						.	T	GLN/ARG	1290,94		606,78,8	33.0	36.0	35.0		50	-0.2	0.3	17	dbSNP_119	35	2296,886		819,658,114	no	missense	KRTAP4-11	NM_033059.3	43	1425,736,122	TT,TC,CC		27.8441,6.7919,21.463	benign	17/196	39274518	3586,980	692	1591	2283	SO:0001583	missense	653240	exon1			AGGTCTCGGCCAC	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.50G>A	17.37:g.39274518C>T	ENSP00000375232:p.Arg17Gln	172	0		167	6	NM_033059	0	0	0	0	0	A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	1511	0.6918498168498168	470	0.9552845528455285	251	0.6933701657458563	250	0.4370629370629371	540	0.712401055408971	.	0.008	-1.890787	0.00527	0.932081	0.721559	ENSG00000212721	ENST00000391413	T	0.00590	6.36	2.47	-0.215	0.13157	.	1.088530	0.07528	N	0.911716	T	0.00012	0.0000	N	0.00517	-1.405	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.14117	-1.0484	9	0.10111	T	0.7	.	2.9268	0.05787	0.0:0.3197:0.248:0.4323	rs9897031;rs62066328	17	Q9BYQ6	KR411_HUMAN	Q	17	ENSP00000375232:R17Q	ENSP00000375232:R17Q	R	-	2	0	KRTAP4-11	36528044	0.092000	0.21681	0.304000	0.25085	0.113000	0.19764	2.115000	0.41921	-0.140000	0.11394	-0.684000	0.03749	CGA	C|0.308;T|0.692		0.592	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
HSD17B1	3292	hgsc.bcm.edu	37	17	40706906	40706906	+	Missense_Mutation	SNP	G	G	A	rs605059	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr17:40706906G>A	ENST00000585807.1	+	6	4657	c.937G>A	c.(937-939)Ggt>Agt	p.G313S	HSD17B1_ENST00000225929.5_Missense_Mutation_p.G314S|RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	313			G -> S (in dbSNP:rs605059). {ECO:0000269|PubMed:1327779, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2197970, ECO:0000269|PubMed:2330005, ECO:0000269|PubMed:2779584, ECO:0000269|PubMed:2846351, ECO:0000269|PubMed:8389226, ECO:0000269|Ref.6, ECO:0000269|Ref.9}.		bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GGCCGGGCGCGGTGCGGTGGG	0.736													A|||	2617	0.522564	0.4849	0.4942	5008	,	,		11834	0.4534		0.5249	False		,,,				2504	0.6626				p.G313S		.											.	HSD17B1-90	0			c.G937A	GRCh37	CM057951	HSD17B1	M	rs605059	.	A	SER/GLY	2209,1645		683,843,401	3.0	5.0	4.0		937	-1.2	0.0	17	dbSNP_83	4	4593,3023		1489,1615,704	no	missense	HSD17B1	NM_000413.2	56	2172,2458,1105	AA,AG,GG		39.6928,42.6829,40.6975	benign	313/329	40706906	6802,4668	1927	3808	5735	SO:0001583	missense	3292	exon6			GGGCGCGGTGCGG		CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.937G>A	17.37:g.40706906G>A	ENSP00000466799:p.Gly313Ser	0	0		8	6	NM_000413	0	0	0	0	0	B3KXS1|Q2M2L8	Missense_Mutation	SNP	ENST00000585807.1	37	CCDS11428.1	1065	0.4876373626373626	249	0.5060975609756098	161	0.4447513812154696	257	0.4493006993006993	398	0.525065963060686	A	1.679	-0.506941	0.04231	0.573171	0.603072	ENSG00000108786	ENST00000225929	.	.	.	0.605	-1.21	0.09524	.	15.510600	0.00792	N	0.001347	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.49916	-0.8888	7	0.15952	T	0.53	.	.	.	.	rs605059;rs58087383	344;313	B3RFR9;P14061	.;DHB1_HUMAN	S	313	.	ENSP00000225929:G313S	G	+	1	0	HSD17B1	37960432	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.026000	0.03596	-2.560000	0.00474	-1.912000	0.00520	GGT	G|0.505;A|0.495		0.736	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1	NM_000413	
COG1	9382	bcgsc.ca	37	17	71197439	71197439	+	Silent	SNP	C	C	T	rs1551036	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr17:71197439C>T	ENST00000299886.4	+	7	1553	c.1473C>T	c.(1471-1473)agC>agT	p.S491S		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	491					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CCTGGGTCAGCGTGGCAAACC	0.532													C|||	660	0.131789	0.0083	0.1225	5008	,	,		20222	0.1746		0.1958	False		,,,				2504	0.1953				p.S491S		.											.	COG1-91	0			c.C1473T						.	C		172,4234	112.5+/-150.6	5,162,2036	139.0	129.0	132.0		1473	-2.5	0.0	17	dbSNP_88	132	1661,6939	304.5+/-307.0	178,1305,2817	no	coding-synonymous	COG1	NM_018714.2		183,1467,4853	TT,TC,CC		19.314,3.9038,14.0935		491/981	71197439	1833,11173	2203	4300	6503	SO:0001819	synonymous_variant	9382	exon7			GGTCAGCGTGGCA		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1473C>T	17.37:g.71197439C>T		137	1		104	6	NM_018714	0	0	18	18	0	Q9NPV9|Q9P2G6	Silent	SNP	ENST00000299886.4	37	CCDS11692.1																																																																																			C|0.867;N|0.001		0.532	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1		
CBLN2	147381	hgsc.bcm.edu	37	18	70209321	70209321	+	Silent	SNP	C	C	A	rs7237888	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr18:70209321C>A	ENST00000269503.4	-	3	848	c.75G>T	c.(73-75)ccG>ccT	p.P25P	CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000585159.1_Silent_p.P25P|CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000584764.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	25					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CGCAgccgcccggctcgcgca	0.786													C|||	2820	0.563099	0.1868	0.8573	5008	,	,		7947	0.381		0.9304	False		,,,				2504	0.6728				p.P25P		.											.	CBLN2-90	0			c.G75T						.	C		1660,2420		328,1004,708	5.0	7.0	6.0		75	-0.8	1.0	18	dbSNP_116	6	7475,487		3530,415,36	no	coding-synonymous	CBLN2	NM_182511.3		3858,1419,744	AA,AC,CC		6.1166,40.6863,24.1405		25/225	70209321	9135,2907	2040	3981	6021	SO:0001819	synonymous_variant	147381	exon3			GCCGCCCGGCTCG	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.75G>T	18.37:g.70209321C>A		0	0		5	5	NM_182511	0	0	0	0	0	Q53Z56	Silent	SNP	ENST00000269503.4	37	CCDS11999.1																																																																																			C|0.390;A|0.610		0.786	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511	
ODF3L2	284451	hgsc.bcm.edu	37	19	464080	464080	+	Missense_Mutation	SNP	C	C	T	rs76592524	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:464080C>T	ENST00000315489.4	-	4	869	c.634G>A	c.(634-636)Gca>Aca	p.A212T	ODF3L2_ENST00000382696.3_Missense_Mutation_p.A176T	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	212	Pro-rich.					cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						TAGGTGTTTGCGTCCGGGCTG	0.761													c|||	141	0.028155	0.0772	0.0115	5008	,	,		8891	0.0		0.0209	False		,,,				2504	0.0102				p.A212T		.											.	ODF3L2-68	0			c.G634A						.	C	THR/ALA	235,3897		7,221,1838	6.0	7.0	7.0		634	2.7	1.0	19	dbSNP_131	7	183,7779		1,181,3799	yes	missense	ODF3L2	NM_182577.2	58	8,402,5637	TT,TC,CC		2.2984,5.6873,3.4563	benign	212/290	464080	418,11676	2066	3981	6047	SO:0001583	missense	284451	exon4			TGTTTGCGTCCGG	AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 19"""	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.634G>A	19.37:g.464080C>T	ENSP00000318029:p.Ala212Thr	1	0		13	7	NM_182577	0	0	1	4	3	Q3SX65|Q8N1L2	Missense_Mutation	SNP	ENST00000315489.4	37	CCDS12027.1	67	0.030677655677655676	45	0.09146341463414634	4	0.011049723756906077	0	0.0	18	0.023746701846965697	C	10.93	1.489764	0.26686	0.056873	0.022984	ENSG00000181781	ENST00000315489;ENST00000382696	T;T	0.30182	1.54;1.54	3.81	2.74	0.32292	.	0.117336	0.64402	D	0.000018	T	0.00496	0.0016	N	0.08118	0	0.25934	N	0.982953	B;B	0.22800	0.021;0.075	B;B	0.18561	0.003;0.022	T	0.16070	-1.0415	10	0.19147	T	0.46	-11.8847	11.3724	0.49708	0.0:0.1897:0.8103:0.0	.	176;212	Q3SX64-2;Q3SX64	.;OD3L2_HUMAN	T	212;176	ENSP00000318029:A212T;ENSP00000372143:A176T	ENSP00000318029:A212T	A	-	1	0	ODF3L2	415080	1.000000	0.71417	0.987000	0.45799	0.058000	0.15608	5.564000	0.67359	0.718000	0.32166	-0.281000	0.10026	GCA	C|0.969;T|0.031		0.761	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451849.2	NM_182577	
POLRMT	5442	hgsc.bcm.edu	37	19	621561	621561	+	Missense_Mutation	SNP	C	C	A	rs10421235	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:621561C>A	ENST00000588649.2	-	10	2221	c.2137G>T	c.(2137-2139)Gtg>Ttg	p.V713L	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	713					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGGTCCAGCACGCGCCCGTTG	0.741													C|||	677	0.135184	0.2254	0.0461	5008	,	,		10089	0.0764		0.0258	False		,,,				2504	0.2495				p.V713L		.											.	POLRMT-92	0			c.G2137T						.	C	LEU/VAL	447,3185		14,419,1383	4.0	3.0	3.0		2137	2.1	0.5	19	dbSNP_119	3	143,6993		2,139,3427	no	missense	POLRMT	NM_005035.3	32	16,558,4810	AA,AC,CC		2.0039,12.3073,5.4792	benign	713/1231	621561	590,10178	1816	3568	5384	SO:0001583	missense	5442	exon10			CCAGCACGCGCCC		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2137G>T	19.37:g.621561C>A	ENSP00000465759:p.Val713Leu	0	0		20	15	NM_005035	0	0	10	21	11	O60370	Missense_Mutation	SNP	ENST00000588649.2	37	CCDS12036.1	179	0.08195970695970696	98	0.1991869918699187	23	0.06353591160220995	41	0.07167832167832168	17	0.022427440633245383	.	1.831	-0.469877	0.04445	0.123073	0.020039	ENSG00000099821	ENST00000215591	T	0.41400	1.0	4.38	2.07	0.26955	DNA-directed RNA polymerase, helix hairpin domain (1);	0.337088	0.28971	N	0.013545	T	0.00039	0.0001	L	0.28274	0.84	0.40284	P	0.021571000000000007	B	0.21520	0.057	B	0.21708	0.036	T	0.23226	-1.0194	9	0.10636	T	0.68	-21.1616	7.9361	0.29931	0.0:0.4845:0.4232:0.0923	rs10421235	713	O00411	RPOM_HUMAN	L	713	ENSP00000215591:V713L	ENSP00000215591:V713L	V	-	1	0	POLRMT	572561	0.015000	0.18098	0.490000	0.27465	0.466000	0.32739	0.069000	0.14552	0.409000	0.25649	0.455000	0.32223	GTG	C|0.918;A|0.082		0.741	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035	
ABCA7	10347	hgsc.bcm.edu	37	19	1065044	1065044	+	Silent	SNP	C	C	T	rs4147935	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:1065044C>T	ENST00000263094.6	+	46	6390	c.6159C>T	c.(6157-6159)ggC>ggT	p.G2053G	HMHA1_ENST00000313093.2_5'Flank|HMHA1_ENST00000590214.1_5'Flank|HMHA1_ENST00000539243.2_5'Flank|HMHA1_ENST00000586866.1_5'Flank|ABCA7_ENST00000433129.1_Silent_p.G2053G|HMHA1_ENST00000536472.1_5'Flank|ABCA7_ENST00000435683.2_Silent_p.G1915G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	2053					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACATGGAGGCCGCCTGCGCT	0.736																																					p.G2053G		.											.	ABCA7-98	0			c.C6159T						.	C		327,3757		20,287,1735	5.0	6.0	6.0		6159	1.5	0.8	19	dbSNP_110	6	2858,5242		553,1752,1745	no	coding-synonymous	ABCA7	NM_019112.3		573,2039,3480	TT,TC,CC		35.284,8.0069,26.1408		2053/2147	1065044	3185,8999	2042	4050	6092	SO:0001819	synonymous_variant	10347	exon46			TGGAGGCCGCCTG	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.6159C>T	19.37:g.1065044C>T		1	0		6	5	NM_019112	0	0	1	3	2	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	CCDS12055.1																																																																																			C|0.766;T|0.234		0.736	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	
KCNN1	3780	hgsc.bcm.edu	37	19	18112361	18112361	+	IGR	SNP	C	C	T	rs113540008	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:18112361C>T	ENST00000222249.9	+	0	3625				ARRDC2_ENST00000379656.3_Missense_Mutation_p.R80C	NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1						potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CTACCTGCGGCGTCGGCAGCT	0.741													C|||	200	0.0399361	0.0318	0.0403	5008	,	,		8599	0.003		0.0746	False		,,,				2504	0.0532				p.R80C		.											.	ARRDC2-91	0			c.C238T						.	C	CYS/ARG	76,2440		1,74,1183	2.0	2.0	2.0		238	-0.2	0.3	19	dbSNP_132	2	257,4909		3,251,2329	yes	missense	ARRDC2	NM_001025604.1	180	4,325,3512	TT,TC,CC		4.9748,3.0207,4.3348		80/403	18112361	333,7349	1258	2583	3841	SO:0001628	intergenic_variant	27106	exon1			CTGCGGCGTCGGC	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952			19.37:g.18112361C>T		0	0		13	13	NM_001025604	0	0	0	5	5	Q5KR10|Q6DJU4	Missense_Mutation	SNP	ENST00000222249.9	37		74	0.03388278388278388	19	0.03861788617886179	16	0.04419889502762431	0	0.0	39	0.051451187335092345	C	18.53	3.644965	0.67358	0.030207	0.049748	ENSG00000105643	ENST00000379656	T	0.06528	3.29	3.58	-0.231	0.13086	.	.	.	.	.	T	0.01695	0.0054	.	.	.	0.53005	D	0.999967	D	0.76494	0.999	P	0.59948	0.866	T	0.29941	-0.9995	8	0.40728	T	0.16	.	3.6128	0.08066	0.3235:0.4746:0.0:0.2019	.	80	Q8TBH0-2	.	C	80	ENSP00000368977:R80C	ENSP00000368977:R80C	R	+	1	0	ARRDC2	17973361	0.531000	0.26338	0.311000	0.25182	0.952000	0.60782	0.358000	0.20216	0.164000	0.19529	0.491000	0.48974	CGT	C|0.966;T|0.034		0.741	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248	
GPATCH1	55094	bcgsc.ca	37	19	33579128	33579128	+	Silent	SNP	T	T	C	rs7259333	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:33579128T>C	ENST00000170564.2	+	2	476	c.162T>C	c.(160-162)agT>agC	p.S54S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	54					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGGCCTTTAGTGGAGGTTTCT	0.363													C|||	2674	0.533946	0.8018	0.2867	5008	,	,		13444	0.5099		0.2416	False		,,,				2504	0.6728				p.S54S	Pancreas(67;88 1713 4567 18227)	.											.	GPATCH1-91	0			c.T162C						.	C		3204,1202	416.7+/-337.7	1159,886,158	96.0	101.0	99.0		162	-4.0	0.7	19	dbSNP_116	99	2313,6287	705.1+/-405.5	284,1745,2271	no	coding-synonymous	GPATCH1	NM_018025.2		1443,2631,2429	CC,CT,TT		26.8953,27.281,42.4189		54/932	33579128	5517,7489	2203	4300	6503	SO:0001819	synonymous_variant	55094	exon2			CTTTAGTGGAGGT	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.162T>C	19.37:g.33579128T>C		58	0		112	6	NM_018025	0	0	4	4	0	Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	CCDS12428.1																																																																																			T|0.549;C|0.451		0.363	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	
FBXO17	115290	hgsc.bcm.edu	37	19	39440918	39440918	+	Silent	SNP	T	T	C	rs2304117	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:39440918T>C	ENST00000292852.4	-	2	383	c.42A>G	c.(40-42)ccA>ccG	p.P14P	SARS2_ENST00000448145.2_5'Flank|CTC-360G5.8_ENST00000599996.1_5'Flank|FBXO17_ENST00000595329.1_Silent_p.P14P	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	14						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCCAGGGATGGGTCCGCCG	0.731													c|||	2378	0.47484	0.3336	0.3746	5008	,	,		11867	0.6796		0.4195	False		,,,				2504	0.5828				p.P23P		.											.	FBXO17-226	0			c.A69G						.		,	1052,2556		213,626,965	3.0	4.0	3.0		42,69	0.5	0.0	19	dbSNP_100	3	2265,4819		496,1273,1773	no	coding-synonymous,coding-synonymous	FBXO17	NM_024907.5,NM_148169.1	,	709,1899,2738	CC,CT,TT		31.9735,29.1574,31.0232	,	14/279,23/288	39440918	3317,7375	1804	3542	5346	SO:0001819	synonymous_variant	115290	exon2			CAGGGATGGGTCC	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"""F-boxes /  ""other"""""	18754	protein-coding gene	gene with protein product	"""F-box only protein 26"""	609094	"""F-box only protein 17"""	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.42A>G	19.37:g.39440918T>C		0	0		10	10	NM_148169	0	0	0	0	0	Q96LQ4	Silent	SNP	ENST00000292852.4	37	CCDS12526.1																																																																																			T|0.545;C|0.455		0.731	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907	
IRGC	56269	broad.mit.edu;bcgsc.ca	37	19	44223431	44223431	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:44223431C>T	ENST00000244314.5	+	2	920	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	241						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTCCCACCGGCGCCACGCTGG	0.647																																					p.R241C	Colon(189;350 2037 11447 13433 38914)	.											.	IRGC-70	0			c.C721T						.						22.0	20.0	21.0					19																	44223431		2202	4300	6502	SO:0001583	missense	56269	exon2			CACCGGCGCCACG	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.721C>T	19.37:g.44223431C>T	ENSP00000244314:p.Arg241Cys	63	0		181	9	NM_019612	0	0	0	0	0	Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733303	0.48939	.	.	ENSG00000124449	ENST00000244314	T	0.24908	1.83	5.83	3.67	0.42095	.	0.065830	0.56097	D	0.000025	T	0.24812	0.0602	L	0.59436	1.845	0.48975	D	0.999731	D	0.54047	0.964	B	0.43680	0.427	T	0.02625	-1.1132	10	0.52906	T	0.07	.	6.1023	0.20053	0.0:0.6803:0.1566:0.1631	.	241	Q6NXR0	IIGP5_HUMAN	C	241	ENSP00000244314:R241C	ENSP00000244314:R241C	R	+	1	0	IRGC	48915271	1.000000	0.71417	0.980000	0.43619	0.982000	0.71751	1.282000	0.33226	0.785000	0.33685	0.655000	0.94253	CGC	.		0.647	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612	
SIX5	147912	broad.mit.edu;bcgsc.ca	37	19	46269609	46269609	+	Splice_Site	SNP	T	T	A			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:46269609T>A	ENST00000317578.6	-	2	1989	c.1608A>T	c.(1606-1608)ccA>ccT	p.P536P	AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR|AC074212.5_ENST00000592217.2_RNA|AC074212.6_ENST00000590076.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	536					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		TGGGGGTACCTGGGGCAGTGG	0.677																																					p.P536P		.											.	SIX5-91	0			c.A1608T						.						6.0	8.0	7.0					19																	46269609		2162	4233	6395	SO:0001630	splice_region_variant	147912	exon2			GGTACCTGGGGCA	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.1609+1A>T	19.37:g.46269609T>A		43	0		81	5	NM_175875	0	0	2	2	0		Silent	SNP	ENST00000317578.6	37	CCDS12673.1																																																																																			.		0.677	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875	Silent
PTGIR	5739	hgsc.bcm.edu	37	19	47127324	47127324	+	Silent	SNP	C	C	G	rs2229128	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:47127324C>G	ENST00000291294.2	-	2	292	c.159G>C	c.(157-159)gtG>gtC	p.V53V	PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Silent_p.V53V|PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000598865.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	53					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	CCAGTCCGGTCACCAGCACCG	0.731													G|||	1139	0.227436	0.1362	0.2133	5008	,	,		13968	0.3313		0.2465	False		,,,				2504	0.2342				p.V53V		.											.	PTGIR-522	0			c.G159C						.	G		523,3103		62,399,1352	3.0	5.0	5.0		159	2.2	1.0	19	dbSNP_98	5	1678,5498		231,1216,2141	no	coding-synonymous	PTGIR	NM_000960.3		293,1615,3493	GG,GC,CC		23.3835,14.4236,20.3759		53/387	47127324	2201,8601	1813	3588	5401	SO:0001819	synonymous_variant	5739	exon2			TCCGGTCACCAGC		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"""GPCR / Class A : Prostanoid receptors"""	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.159G>C	19.37:g.47127324C>G		0	0		8	6	NM_000960	0	0	3	3	0		Silent	SNP	ENST00000291294.2	37	CCDS12686.1																																																																																			C|0.254;G|0.746		0.731	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1		
PPFIA3	8541	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	49645325	49645325	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:49645325C>G	ENST00000334186.4	+	20	2846	c.2497C>G	c.(2497-2499)Cta>Gta	p.L833V	PPFIA3_ENST00000602351.1_Missense_Mutation_p.L833V	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	833					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CCGCCAGGGCCTACCTTTTGC	0.642																																					p.L833V		.											.	PPFIA3-226	0			c.C2497G						.						25.0	20.0	22.0					19																	49645325		2201	4296	6497	SO:0001583	missense	8541	exon20			CAGGGCCTACCTT	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2497C>G	19.37:g.49645325C>G	ENSP00000335614:p.Leu833Val	74	0		97	6	NM_003660	0	0	5	5	0	A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061318	0.55432	.	.	ENSG00000177380	ENST00000334186	T	0.17691	2.26	4.87	4.87	0.63330	.	0.183475	0.24659	N	0.036643	T	0.22898	0.0553	M	0.77820	2.39	0.80722	D	1	B;B	0.15719	0.014;0.001	B;B	0.15052	0.012;0.001	T	0.03121	-1.1070	10	0.46703	T	0.11	-3.4865	11.53	0.50604	0.0:0.911:0.0:0.089	.	833;833	O75145-2;O75145	.;LIPA3_HUMAN	V	833	ENSP00000335614:L833V	ENSP00000335614:L833V	L	+	1	2	PPFIA3	54337137	0.619000	0.27059	1.000000	0.80357	0.994000	0.84299	1.298000	0.33412	2.438000	0.82558	0.551000	0.68910	CTA	.		0.642	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660	
PNKP	11284	broad.mit.edu	37	19	50370408	50370408	+	Silent	SNP	T	T	C			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:50370408T>C	ENST00000322344.3	-	2	163	c.54A>G	c.(52-54)ggA>ggG	p.G18G	PNKP_ENST00000600573.1_Silent_p.G18G|PNKP_ENST00000596014.1_Silent_p.G18G|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600910.1_Silent_p.G18G	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	18	FHA.			G -> E (in Ref. 1; AAD51135). {ECO:0000305}.	dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGGGGCGCTCCCCCAGGGG	0.711								Other BER factors																													p.G18G		.											.	PNKP-253	0			c.A54G						.						13.0	16.0	15.0					19																	50370408		2177	4247	6424	SO:0001819	synonymous_variant	11284	exon2			GGGCGCTCCCCCA	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.54A>G	19.37:g.50370408T>C		34	1		98	25	NM_007254	0	0	39	42	3	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	CCDS12783.1																																																																																			.		0.711	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254	
LILRA3	11026	bcgsc.ca	37	19	54804167	54804167	+	Missense_Mutation	SNP	G	G	A	rs11574606	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:54804167G>A	ENST00000251390.3	-	1	98	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	LILRA3_ENST00000391744.3_Missense_Mutation_p.P3S|LILRA3_ENST00000391745.1_Missense_Mutation_p.P20S	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	3			P -> S (in dbSNP:rs11574606). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9278324, ECO:0000269|PubMed:9548455}.		defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGAGGATGGGGGTCATGGCG	0.592													G|||	314	0.0626997	0.0129	0.111	5008	,	,		14210	0.003		0.1829	False		,,,				2504	0.0337				p.P3S		.											.	LILRA3-91	0			c.C7T						.	G	SER/PRO,SER/PRO	124,4266		18,88,2089	129.0	98.0	109.0		7,7	-3.9	0.0	19	dbSNP_120	109	1433,6907		320,793,3057	yes	missense,missense	LILRA3	NM_001172654.1,NM_006865.3	74,74	338,881,5146	AA,AG,GG		17.1823,2.8246,12.231	,	3/376,3/440	54804167	1557,11173	2195	4170	6365	SO:0001583	missense	11026	exon1			GGATGGGGGTCAT	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.7C>T	19.37:g.54804167G>A	ENSP00000251390:p.Pro3Ser	123	0		177	6	NM_001172654	0	0	1	1	0	J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	CCDS12887.1	172	0.07875457875457875	10	0.02032520325203252	38	0.10497237569060773	2	0.0034965034965034965	122	0.16094986807387862	G	12.13	1.845588	0.32606	0.028246	0.171823	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00745	5.75;5.79;5.77	1.96	-3.93	0.04143	.	1.147850	0.06558	N	0.746265	T	0.00012	0.0000	L	0.53617	1.68	0.80722	P	0.0	B;B;B	0.30542	0.106;0.284;0.027	B;B;B	0.32805	0.098;0.153;0.001	T	0.37197	-0.9716	9	0.45353	T	0.12	.	0.1575	0.00099	0.3149:0.1943:0.2667:0.2242	rs11574606;rs17852512	3;3;3	E7EU74;Q8N6C8;B5ME96	.;LIRA3_HUMAN;.	S	3;3;20	ENSP00000251390:P3S;ENSP00000375624:P3S;ENSP00000375625:P20S	ENSP00000251390:P3S	P	-	1	0	LILRA3	59495979	0.000000	0.05858	0.000000	0.03702	0.197000	0.23852	-0.321000	0.08018	-0.876000	0.04017	0.485000	0.47835	CCC	G|0.907;A|0.093		0.592	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1		
ZNF471	57573	broad.mit.edu	37	19	57036436	57036436	+	Missense_Mutation	SNP	G	G	T	rs75422502		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr19:57036436G>T	ENST00000308031.5	+	5	1133	c.1000G>T	c.(1000-1002)Gct>Tct	p.A334S	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.L193F	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	334					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CTCGTCTTTTGCTCGACATCA	0.443																																					p.A334S	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	.											.	ZNF471-154	0			c.G1000T						.						43.0	47.0	45.0					19																	57036436		2203	4300	6503	SO:0001583	missense	57573	exon5			TCTTTTGCTCGAC	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1000G>T	19.37:g.57036436G>T	ENSP00000309161:p.Ala334Ser	79	10		94	20	NM_020813	0	0	2	4	2	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930052	0.34096	.	.	ENSG00000196263	ENST00000308031	T	0.03524	3.9	3.72	0.228	0.15364	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02727	0.0082	N	0.20328	0.56	0.09310	N	1	B	0.25441	0.126	B	0.31946	0.138	T	0.48068	-0.9067	9	0.33141	T	0.24	.	4.2445	0.10665	0.4119:0.1702:0.4179:0.0	.	334	Q9BX82	ZN471_HUMAN	S	334	ENSP00000309161:A334S	ENSP00000309161:A334S	A	+	1	0	ZNF471	61728248	0.000000	0.05858	0.126000	0.21872	0.980000	0.70556	-0.929000	0.03976	0.260000	0.21731	0.462000	0.41574	GCT	.		0.443	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813	
TMEM247	388946	ucsc.edu;bcgsc.ca	37	2	46707808	46707808	+	Missense_Mutation	SNP	C	C	G	rs70940616|rs74318890		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr2:46707808C>G	ENST00000434431.1	+	2	382	c.382C>G	c.(382-384)Cag>Gag	p.Q128E		NM_001145051.2	NP_001138523.1	A6NEH6	TM247_HUMAN	transmembrane protein 247	128						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											GAACCAGCGGCAGCGGCAGCA	0.662																																					p.Q128E		.											.	.	0			c.C382G						.						30.0	40.0	37.0					2																	46707808		692	1591	2283	SO:0001583	missense	388946	exon2			CAGCGGCAGCGGC		CCDS56117.1	2p21	2012-04-11			ENSG00000187600	ENSG00000187600			42967	protein-coding gene	gene with protein product							Standard	NM_001145051		Approved		uc010yod.3	A6NEH6	OTTHUMG00000153137	ENST00000434431.1:c.382C>G	2.37:g.46707808C>G	ENSP00000388684:p.Gln128Glu	204	1		276	38	NM_001145051	0	0	0	0	0		Missense_Mutation	SNP	ENST00000434431.1	37	CCDS56117.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447093	0.63178	.	.	ENSG00000187600	ENST00000434431	.	.	.	4.76	4.76	0.60689	.	0.000000	0.39475	N	0.001353	T	0.65606	0.2707	L	0.34521	1.04	.	.	.	D	0.56035	0.974	D	0.70487	0.969	T	0.71735	-0.4503	8	0.54805	T	0.06	-28.7409	14.7885	0.69821	0.0:1.0:0.0:0.0	.	128	A6NEH6	YB028_HUMAN	E	128	.	ENSP00000388684:Q128E	Q	+	1	0	AC018682.6	46561312	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	3.910000	0.56371	2.484000	0.83849	0.563000	0.77884	CAG	G|1.000;|0.000		0.662	TMEM247-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329726.1	NM_001145051	
RNF149	284996	hgsc.bcm.edu	37	2	101925026	101925026	+	Missense_Mutation	SNP	T	T	C	rs11123868	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr2:101925026T>C	ENST00000295317.3	-	1	132	c.25A>G	c.(25-27)Agc>Ggc	p.S9G	MIR5696_ENST00000578474.1_RNA	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	9			S -> G (in dbSNP:rs11123868). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GCCCCGACGCTGGCTTCGCGC	0.726													C|||	2397	0.478634	0.7678	0.4582	5008	,	,		13525	0.3175		0.3917	False		,,,				2504	0.3579				p.S9G	Colon(25;331 612 6521 7355 31028)	.											.	RNF149-290	0			c.A25G						.	C	GLY/SER	1794,1350		547,700,325	4.0	6.0	5.0		25	-2.5	0.0	2	dbSNP_120	5	2382,4344		496,1390,1477	no	missense	RNF149	NM_173647.3	56	1043,2090,1802	CC,CT,TT		35.4148,42.9389,42.31	benign	9/401	101925026	4176,5694	1572	3363	4935	SO:0001583	missense	284996	exon1			CGACGCTGGCTTC	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.25A>G	2.37:g.101925026T>C	ENSP00000295317:p.Ser9Gly	0	0		6	6	NM_173647	0	0	0	0	0	Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	CCDS2051.1	1023	0.4684065934065934	378	0.7682926829268293	162	0.44751381215469616	189	0.3304195804195804	294	0.38786279683377306	C	1.566	-0.535355	0.04082	0.570611	0.354148	ENSG00000163162	ENST00000295317	T	0.08634	3.07	3.96	-2.45	0.06481	.	4.553570	0.01792	N	0.032390	T	0.00012	0.0000	N	0.00926	-1.1	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.30327	-0.9982	9	0.16896	T	0.51	.	7.6769	0.28490	0.0:0.1603:0.4369:0.4028	rs11123868;rs17856944;rs56755384	9	Q8NC42	RN149_HUMAN	G	9	ENSP00000295317:S9G	ENSP00000295317:S9G	S	-	1	0	RNF149	101291458	0.000000	0.05858	0.003000	0.11579	0.044000	0.14063	-0.581000	0.05820	-0.783000	0.04534	-0.374000	0.07098	AGC	T|0.543;C|0.457		0.726	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647	
RANBP2	5903	broad.mit.edu;bcgsc.ca	37	2	109382319	109382319	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr2:109382319T>A	ENST00000283195.6	+	20	5450	c.5324T>A	c.(5323-5325)tTt>tAt	p.F1775Y		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1775					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAGAGTGGATTTGAAGGAATG	0.403																																					p.F1775Y		.											.	RANBP2-675	0			c.T5324A						.						98.0	99.0	99.0					2																	109382319		2203	4300	6503	SO:0001583	missense	5903	exon20			GTGGATTTGAAGG	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5324T>A	2.37:g.109382319T>A	ENSP00000283195:p.Phe1775Tyr	346	0		299	10	NM_006267	0	0	12	12	0	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.869349	0.32977	.	.	ENSG00000153201	ENST00000283195	T	0.30981	1.51	2.64	2.64	0.31445	.	.	.	.	.	T	0.38878	0.1057	H	0.95260	3.645	0.22940	N	0.998539	B	0.26975	0.165	B	0.23018	0.043	T	0.52411	-0.8579	9	0.08179	T	0.78	-5.0514	7.0107	0.24861	0.0:0.0:0.0:1.0	.	1775	P49792	RBP2_HUMAN	Y	1775	ENSP00000283195:F1775Y	ENSP00000283195:F1775Y	F	+	2	0	RANBP2	108748751	0.946000	0.32159	0.990000	0.47175	0.896000	0.52359	2.073000	0.41519	1.203000	0.43233	0.379000	0.24179	TTT	.		0.403	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
FOXD4L1	200350	mdanderson.org	37	2	114257443	114257443	+	Missense_Mutation	SNP	A	A	C	rs377465547	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr2:114257443A>C	ENST00000306507.5	+	1	783	c.610A>C	c.(610-612)Aag>Cag	p.K204Q		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	204					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K204Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GAAGCGTTTCAAGCGCCACCA	0.682													.|||	1167	0.233027	0.1029	0.3184	5008	,	,		11316	0.501		0.1302	False		,,,				2504	0.1779				p.K204Q		.											.	FOXD4L1-84	1	Substitution - Missense(1)	breast(1)	c.A610C						.	A	GLN/LYS	1,2995		0,1,1497	16.0	22.0	20.0		610	2.6	1.0	2		20	1,6035		0,1,3017	no	missense	FOXD4L1	NM_012184.4	53	0,2,4514	CC,CA,AA		0.0166,0.0334,0.0221	benign	204/409	114257443	2,9030	1498	3018	4516	SO:0001583	missense	200350	exon1			CGTTTCAAGCGCC	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.610A>C	2.37:g.114257443A>C	ENSP00000302756:p.Lys204Gln	23	1		25	12	NM_012184	0	0	0	1	1	B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	13.43	2.234654	0.39498	3.34E-4	1.66E-4	ENSG00000184492	ENST00000306507	D	0.96168	-3.93	2.57	2.57	0.30868	.	0.000000	0.35378	U	0.003255	D	0.89546	0.6746	N	0.20986	0.625	0.49798	D	0.999826	B	0.25563	0.129	B	0.25614	0.062	D	0.85812	0.1380	10	0.48119	T	0.1	.	8.6531	0.34046	1.0:0.0:0.0:0.0	.	204	Q9NU39	FX4L1_HUMAN	Q	204	ENSP00000302756:K204Q	ENSP00000302756:K204Q	K	+	1	0	FOXD4L1	113973913	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	8.525000	0.90583	1.190000	0.43042	0.155000	0.16302	AAG	.		0.682	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184	
C2orf54	79919	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	241835134	241835134	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr2:241835134A>G	ENST00000388934.4	-	1	439	c.281T>C	c.(280-282)aTt>aCt	p.I94T		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	94										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		TGGTTCCTCAATCAGTAGAGC	0.642																																					p.I94T		.											.	C2orf54-90	0			c.T281C						.						41.0	45.0	44.0					2																	241835134		2028	4158	6186	SO:0001583	missense	79919	exon1			TCCTCAATCAGTA	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.281T>C	2.37:g.241835134A>G	ENSP00000373586:p.Ile94Thr	196	0		186	118	NM_001085437	0	0	0	0	0	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	ENST00000388934.4	37	CCDS42839.1	.	.	.	.	.	.	.	.	.	.	A	8.430	0.848330	0.17034	.	.	ENSG00000172478	ENST00000388934;ENST00000414499;ENST00000454476	T;T;T	0.11169	2.8;2.8;2.8	5.41	0.0119	0.14089	.	1.340470	0.05108	N	0.488313	T	0.10680	0.0261	L	0.51422	1.61	0.09310	N	1	B	0.15719	0.014	B	0.17098	0.017	T	0.41052	-0.9530	10	0.54805	T	0.06	1.116	1.8678	0.03202	0.5835:0.1373:0.1473:0.1319	.	94	Q08AI8	CB054_HUMAN	T	94;94;84	ENSP00000373586:I94T;ENSP00000390935:I94T;ENSP00000394874:I84T	ENSP00000373586:I94T	I	-	2	0	C2orf54	241483807	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	0.529000	0.23019	0.020000	0.15106	0.459000	0.35465	ATT	.		0.642	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437	
TCF15	6939	hgsc.bcm.edu	37	20	590456	590456	+	Silent	SNP	A	A	G	rs282164	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr20:590456A>G	ENST00000246080.3	-	1	586	c.426T>C	c.(424-426)cgT>cgC	p.R142R		NM_004609.3	NP_004600.2	Q12870	TCF15_HUMAN	transcription factor 15 (basic helix-loop-helix)	142					death (GO:0016265)|ear development (GO:0043583)|eating behavior (GO:0042755)|establishment of epithelial cell apical/basal polarity (GO:0045198)|mesenchymal to epithelial transition (GO:0060231)|mesoderm development (GO:0007498)|muscle organ morphogenesis (GO:0048644)|neuromuscular process controlling posture (GO:0050884)|paraxial mesoderm development (GO:0048339)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression involved in extracellular matrix organization (GO:1901311)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|lung(2)|prostate(1)	4		Breast(17;0.231)				TGCCCGCGGCACGGAAGCACG	0.736													g|||	4317	0.862021	0.7413	0.9035	5008	,	,		6474	0.998		0.8072	False		,,,				2504	0.9121				p.R142R		.											.	TCF15-90	0			c.T426C						.			3211,1033		1232,747,143	7.0	8.0	8.0		426	-9.0	0.0	20	dbSNP_79	8	6663,1669		2708,1247,211	no	coding-synonymous	TCF15	NM_004609.3		3940,1994,354	GG,GA,AA		20.0312,24.3402,21.4854		142/200	590456	9874,2702	2122	4166	6288	SO:0001819	synonymous_variant	6939	exon1			CGCGGCACGGAAG		CCDS33432.1	20p13	2013-05-21			ENSG00000125878	ENSG00000125878		"""Basic helix-loop-helix proteins"""	11627	protein-coding gene	gene with protein product		601010				8825648, 8041747	Standard	NM_004609		Approved	EC2, PARAXIS, bHLHa40	uc002wdz.3	Q12870	OTTHUMG00000031640	ENST00000246080.3:c.426T>C	20.37:g.590456A>G		0	0		8	8	NM_004609	0	0	0	0	0	Q9NQQ1	Silent	SNP	ENST00000246080.3	37	CCDS33432.1																																																																																			A|0.165;G|0.835		0.736	TCF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077475.2	NM_004609	
OTOR	56914	hgsc.bcm.edu	37	20	16729548	16729548	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr20:16729548A>G	ENST00000246081.2	+	2	196	c.152A>G	c.(151-153)aAt>aGt	p.N51S		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	51	SH3.				cartilage condensation (GO:0001502)|sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						GAAGATTATAATGCCCCGGAC	0.363																																					p.N51S		.											.	OTOR-206	0			c.A152G						.						64.0	66.0	65.0					20																	16729548		2203	4300	6503	SO:0001583	missense	56914	exon2			ATTATAATGCCCC	AF233261	CCDS13124.1	20p12.1-p11.23	2005-11-14			ENSG00000125879	ENSG00000125879			8517	protein-coding gene	gene with protein product		606067				10873378	Standard	NM_020157		Approved	MIAL, MIAL1, FDP	uc002wpj.3	Q9NRC9	OTTHUMG00000031931	ENST00000246081.2:c.152A>G	20.37:g.16729548A>G	ENSP00000246081:p.Asn51Ser	37	0		48	4	NM_020157	0	0	0	0	0	D3DW22|Q3MIU6	Missense_Mutation	SNP	ENST00000246081.2	37	CCDS13124.1	.	.	.	.	.	.	.	.	.	.	A	6.730	0.503380	0.12822	.	.	ENSG00000125879	ENST00000246081	T	0.09445	2.98	5.8	2.34	0.29019	Src homology-3 domain (2);Variant SH3 (1);	0.393903	0.30410	N	0.009699	T	0.07954	0.0199	L	0.38531	1.155	0.35154	D	0.770038	B	0.09022	0.002	B	0.14578	0.011	T	0.30937	-0.9961	10	0.19147	T	0.46	-9.8635	8.4721	0.32991	0.7855:0.0:0.2145:0.0	.	51	Q9NRC9	OTOR_HUMAN	S	51	ENSP00000246081:N51S	ENSP00000246081:N51S	N	+	2	0	OTOR	16677548	0.995000	0.38212	0.998000	0.56505	0.974000	0.67602	0.947000	0.29082	0.136000	0.18733	0.460000	0.39030	AAT	.		0.363	OTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078108.2		
CST3	1471	hgsc.bcm.edu	37	20	23618488	23618488	+	Silent	SNP	G	G	A	rs1055084	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr20:23618488G>A	ENST00000398411.1	-	1	94	c.12C>T	c.(10-12)ccC>ccT	p.P4P	CST3_ENST00000398409.1_Silent_p.P4P|CST3_ENST00000376925.3_Silent_p.P4P			P01034	CYTC_HUMAN	cystatin C	4					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell activation (GO:0001775)|cellular response to hydrogen peroxide (GO:0070301)|circadian sleep/wake cycle, REM sleep (GO:0042747)|defense response (GO:0006952)|embryo implantation (GO:0007566)|extracellular fibril organization (GO:0043206)|eye development (GO:0001654)|negative regulation of blood vessel remodeling (GO:0060313)|negative regulation of cell death (GO:0060548)|negative regulation of collagen catabolic process (GO:0010711)|negative regulation of elastin catabolic process (GO:0060311)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|regulation of programmed cell death (GO:0043067)|regulation of tissue remodeling (GO:0034103)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|salivary gland development (GO:0007431)|Sertoli cell development (GO:0060009)	basement membrane (GO:0005604)|cell projection (GO:0042995)|contractile fiber (GO:0043292)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GGGCGCGCAGGGGCCCGGCCA	0.756													g|||	114	0.0227636	0.0015	0.0476	5008	,	,		7697	0.0		0.0696	False		,,,				2504	0.0092				p.P4P		.											.	CST3-91	0			c.C12T						.			35,2527		0,35,1246	2.0	2.0	2.0		12	-3.0	0.0	20	dbSNP_86	2	290,4772		2,286,2243	no	coding-synonymous	CST3	NM_000099.2		2,321,3489	AA,AG,GG		5.729,1.3661,4.2629		4/147	23618488	325,7299	1281	2531	3812	SO:0001819	synonymous_variant	1471	exon1			GCGCAGGGGCCCG		CCDS13158.1	20p11.2	2008-04-15	2008-04-15		ENSG00000101439	ENSG00000101439			2475	protein-coding gene	gene with protein product		604312	"""cystatin C (amyloid angiopathy and cerebral hemorrhage)"""			8486384	Standard	NM_000099		Approved		uc002wtn.1	P01034	OTTHUMG00000032080	ENST00000398411.1:c.12C>T	20.37:g.23618488G>A		0	0		5	5	NM_000099	0	0	294	644	350	B2R5J9|D3DW42|Q6FGW9	Silent	SNP	ENST00000398411.1	37	CCDS13158.1																																																																																			T|0.037;C|0.962		0.756	CST3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256831.1	NM_000099	
MANBAL	63905	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	35944722	35944722	+	Silent	SNP	G	G	A	rs368166811		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr20:35944722G>A	ENST00000373605.3	+	4	974	c.162G>A	c.(160-162)ccG>ccA	p.P54P	MANBAL_ENST00000397156.3_Silent_p.P54P|MANBAL_ENST00000373606.3_Silent_p.P54P|MANBAL_ENST00000397151.1_Silent_p.P54P|MANBAL_ENST00000397150.1_3'UTR|MANBAL_ENST00000397152.3_Silent_p.P54P			Q9NQG1	MANBL_HUMAN	mannosidase, beta A, lysosomal-like	54						integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				AGGCTGAACCGTCTGAGCCCA	0.502																																					p.P54P		.											.	MANBAL-90	0			c.G162A						.	G	,	1,4405	2.1+/-5.4	0,1,2202	55.0	53.0	53.0		162,162	-9.9	0.0	20		53	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MANBAL	NM_001003897.1,NM_022077.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	54/86,54/86	35944722	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63905	exon3			TGAACCGTCTGAG		CCDS13293.1	20q11.23	2013-09-20			ENSG00000101363	ENSG00000101363			15799	protein-coding gene	gene with protein product							Standard	NM_022077		Approved	dJ1141E15.2	uc002xgv.3	Q9NQG1	OTTHUMG00000032414	ENST00000373605.3:c.162G>A	20.37:g.35944722G>A		265	1		335	107	NM_001003897	0	0	0	0	0	A8KAA6|E1P5V3	Silent	SNP	ENST00000373605.3	37	CCDS13293.1																																																																																			.		0.502	MANBAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079096.2	NM_022077	
NRIP1	8204	broad.mit.edu	37	21	16337507	16337507	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr21:16337507G>T	ENST00000400202.1	-	3	3719	c.3007C>A	c.(3007-3009)Cca>Aca	p.P1003T	NRIP1_ENST00000400199.1_Missense_Mutation_p.P1003T|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Missense_Mutation_p.P1003T			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1003	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ACTACACCTGGGTATGAAAAT	0.463																																					p.P1003T		.											.	NRIP1-186	0			c.C3007A						.						57.0	52.0	53.0					21																	16337507		2203	4299	6502	SO:0001583	missense	8204	exon4			CACCTGGGTATGA	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.3007C>A	21.37:g.16337507G>T	ENSP00000383063:p.Pro1003Thr	48	0		34	3	NM_003489	0	0	12	12	0	Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625995	0.46840	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.11930	2.73;2.73;2.73	5.87	4.95	0.65309	.	0.072360	0.56097	D	0.000040	T	0.11793	0.0287	N	0.24115	0.695	0.43321	D	0.995347	P	0.35575	0.51	B	0.39258	0.295	T	0.03193	-1.1062	10	0.66056	D	0.02	-8.4685	11.9385	0.52886	0.0677:0.1236:0.8087:0.0	.	1003	P48552	NRIP1_HUMAN	T	1003	ENSP00000383060:P1003T;ENSP00000383063:P1003T;ENSP00000327213:P1003T	ENSP00000327213:P1003T	P	-	1	0	NRIP1	15259378	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	3.914000	0.56401	2.941000	0.99782	0.655000	0.94253	CCA	.		0.463	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489	
LTN1	26046	ucsc.edu;bcgsc.ca	37	21	30341891	30341891	+	Missense_Mutation	SNP	A	A	G	rs2254796	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr21:30341891A>G	ENST00000361371.5	-	9	1287	c.1208T>C	c.(1207-1209)tTa>tCa	p.L403S	LTN1_ENST00000389194.2_Missense_Mutation_p.L449S|LTN1_ENST00000389195.2_Missense_Mutation_p.L449S			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	403			L -> S (in dbSNP:rs2254796). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9872452, ECO:0000269|Ref.6}.		protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CGAGGACTCTAAAGAGCTGGT	0.343													G|||	3599	0.71865	0.8631	0.6614	5008	,	,		15657	0.8333		0.6024	False		,,,				2504	0.5654				p.L449S		.											.	LTN1-530	0			c.T1346C						.	G	SER/LEU	3576,828	326.7+/-299.7	1459,658,85	70.0	72.0	71.0		1346	4.9	1.0	21	dbSNP_100	71	4751,3849	540.6+/-383.8	1318,2115,867	yes	missense	LTN1	NM_015565.2	145	2777,2773,952	GG,GA,AA		44.7558,18.8011,35.9659	benign	449/1813	30341891	8327,4677	2202	4300	6502	SO:0001583	missense	26046	exon9			GACTCTAAAGAGC	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1208T>C	21.37:g.30341891A>G	ENSP00000354977:p.Leu403Ser	49	0		45	5	NM_015565	0	0	1	1	0	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		1594	0.7298534798534798	419	0.8516260162601627	251	0.6933701657458563	477	0.833916083916084	447	0.5897097625329816	G	1.147	-0.647937	0.03506	0.811989	0.552442	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.64438	3.73;3.73;-0.1	4.91	4.91	0.64330	Armadillo-type fold (1);	0.077470	0.53938	N	0.000041	T	0.00012	0.0000	N	0.00621	-1.32	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.39272	-0.9622	9	0.02654	T	1	.	11.0688	0.47991	0.0873:0.0:0.9127:0.0	rs2254796;rs52795528;rs61451660;rs2254796	403	O94822	LTN1_HUMAN	S	449;403;405;449	ENSP00000373846:L449S;ENSP00000354977:L403S;ENSP00000373847:L449S	ENSP00000354977:L403S	L	-	2	0	LTN1	29263762	1.000000	0.71417	0.993000	0.49108	0.345000	0.29048	4.344000	0.59354	1.456000	0.47831	-0.119000	0.15052	TTA	A|0.317;G|0.683		0.343	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	
BACE2	25825	bcgsc.ca	37	21	42551432	42551432	+	Intron	SNP	T	T	A	rs5019194		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr21:42551432T>A	ENST00000330333.6	+	1	775				PLAC4_ENST00000430327.2_RNA|PLAC4_ENST00000414699.1_RNA|BACE2-IT1_ENST00000433378.1_RNA|BACE2_ENST00000347667.5_Intron|PLAC4_ENST00000440221.2_RNA|PLAC4_ENST00000536486.1_RNA|BACE2_ENST00000328735.6_Intron	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TGACGGTGTCTGGGGTGAGTG	0.612																																					p.R42X		.											.	.	0			c.A124T						.						123.0	106.0	112.0					21																	42551432		2195	4272	6467	SO:0001627	intron_variant	191585	exon1			GGTGTCTGGGGTG	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.312+10930T>A	21.37:g.42551432T>A		119	2		128	9	NM_182832	0	0	0	0	0	A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Nonsense_Mutation	SNP	ENST00000330333.6	37	CCDS13668.1																																																																																			.		0.612	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1		
KRTAP10-6	386674	ucsc.edu	37	21	46011987	46011987	+	Missense_Mutation	SNP	A	A	G	rs201334923	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr21:46011987A>G	ENST00000400368.1	-	1	399	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	127	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CAGCAGACGGACACACAGCAC	0.642													.|||	980	0.195687	0.3873	0.1282	5008	,	,		18410	0.2401		0.0855	False		,,,				2504	0.0521				p.S127P		.											.	KRTAP10-6-90	0			c.T379C						.	G	,PRO/SER	346,3600		9,328,1636	65.0	101.0	89.0		,379	-1.7	0.0	21	dbSNP_132	89	122,8214		6,110,4052	no	intron,missense	TSPEAR,KRTAP10-6	NM_144991.2,NM_198688.2	,74	15,438,5688	GG,GA,AA		1.4635,8.7684,3.8105	,benign	,127/366	46011987	468,11814	1973	4168	6141	SO:0001583	missense	386674	exon1			AGACGGACACACA	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.379T>C	21.37:g.46011987A>G	ENSP00000383219:p.Ser127Pro	163	27		120	62	NM_198688	0	0	0	0	0		Missense_Mutation	SNP	ENST00000400368.1	37	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	g	0.017	-1.506709	0.00992	0.087684	0.014635	ENSG00000188155	ENST00000400368	T	0.01397	4.94	2.44	-1.71	0.08133	.	.	.	.	.	T	0.00039	0.0001	N	0.00793	-1.18	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.39522	-0.9610	8	0.02654	T	1	.	2.6267	0.04931	0.3892:0.0:0.2528:0.358	.	127	P60371	KR106_HUMAN	P	127	ENSP00000383219:S127P	ENSP00000383219:S127P	S	-	1	0	KRTAP10-6	44836415	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.886000	0.04157	-0.713000	0.04981	-1.032000	0.02404	TCC	.		0.642	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688	
SCARF2	91179	hgsc.bcm.edu	37	22	20779768	20779768	+	Missense_Mutation	SNP	G	G	C	rs874101	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr22:20779768G>C	ENST00000266214.5	-	11	2614	c.2510C>G	c.(2509-2511)gCg>gGg	p.A837G	SCARF2_ENST00000405555.3_Missense_Mutation_p.A832G	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	837	Pro-rich.		A -> G (in dbSNP:rs874101).		cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGTCTCAGGCGCGGGCAAGTC	0.756													G|||	2677	0.534545	0.6188	0.5043	5008	,	,		8768	0.3304		0.6471	False		,,,				2504	0.5368				p.A837G		.											.	SCARF2-341	0			c.C2510G						.	G	GLY/ALA,GLY/ALA	1896,962		640,616,173	4.0	6.0	5.0		2510,2495	-3.1	0.0	22	dbSNP_86	5	4269,2301		1472,1325,488	yes	missense,missense	SCARF2	NM_153334.4,NM_182895.2	60,60	2112,1941,661	CC,CG,GG		35.0228,33.6599,34.6097	benign,benign	837/871,832/866	20779768	6165,3263	1429	3285	4714	SO:0001583	missense	91179	exon11			TCAGGCGCGGGCA	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2510C>G	22.37:g.20779768G>C	ENSP00000266214:p.Ala837Gly	0	0		5	5	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	ENST00000266214.5	37	CCDS13779.1	1159	0.5306776556776557	311	0.6321138211382114	198	0.5469613259668509	174	0.3041958041958042	476	0.6279683377308707	G	5.500	0.277180	0.10403	0.663401	0.649772	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.20069	2.16;2.1	3.63	-3.09	0.05331	.	3.824140	0.02067	N	0.051201	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42849	-0.9427	9	0.24483	T	0.36	.	1.7179	0.02905	0.1488:0.3654:0.3149:0.1709	rs874101	832;833	E5RFB8;Q96GP6	.;SREC2_HUMAN	G	832;831;837	ENSP00000385589:A832G;ENSP00000266214:A837G	ENSP00000266214:A837G	A	-	2	0	SCARF2	19109768	0.000000	0.05858	0.004000	0.12327	0.115000	0.19883	0.260000	0.18424	-0.480000	0.06803	0.579000	0.79373	GCG	G|0.531;C|0.469		0.756	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1		
RAB36	9609	bcgsc.ca	37	22	23503121	23503121	+	Silent	SNP	G	G	A	rs5759611	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr22:23503121G>A	ENST00000263116.2	+	10	913	c.873G>A	c.(871-873)tcG>tcA	p.S291S	RAB36_ENST00000341989.4_Silent_p.S269S	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	291					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TCGAGCAGTCGGTGCTGCAGG	0.607													G|||	1138	0.227236	0.0976	0.3501	5008	,	,		20790	0.3413		0.2396	False		,,,				2504	0.1851				p.S291S		.											.	RAB36-228	0			c.G873A						.	G		535,3871	242.5+/-252.5	36,463,1704	80.0	69.0	73.0		873	-11.3	0.3	22	dbSNP_114	73	2217,6383	377.2+/-338.5	288,1641,2371	no	coding-synonymous	RAB36	NM_004914.2		324,2104,4075	AA,AG,GG		25.7791,12.1425,21.1595		291/334	23503121	2752,10254	2203	4300	6503	SO:0001819	synonymous_variant	9609	exon10			GCAGTCGGTGCTG	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.873G>A	22.37:g.23503121G>A		250	2		212	8	NM_004914	0	0	2	2	0	Q2M390|Q7Z4A9|Q9UHP5	Silent	SNP	ENST00000263116.2	37	CCDS13805.1																																																																																			G|0.776;A|0.224		0.607	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914	
TSC22D2	9819	hgsc.bcm.edu	37	3	150128392	150128392	+	Missense_Mutation	SNP	G	G	A	rs879634	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr3:150128392G>A	ENST00000361875.3	+	1	2271	c.1255G>A	c.(1255-1257)Gct>Act	p.A419T	TSC22D2_ENST00000361136.2_Missense_Mutation_p.A419T	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	419			A -> T (in dbSNP:rs879634).		response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGGCCAGAATGCTTCCTCGGT	0.771													G|||	952	0.190096	0.2224	0.1657	5008	,	,		13018	0.0407		0.2724	False		,,,				2504	0.2331				p.A419T		.											.	TSC22D2-91	0			c.G1255A						.	G	THR/ALA	435,2751		29,377,1187	2.0	3.0	3.0		1255	1.5	0.0	3	dbSNP_86	3	1458,5444		170,1118,2163	yes	missense	TSC22D2	NM_014779.2	58	199,1495,3350	AA,AG,GG		21.1243,13.6535,18.7649	benign	419/781	150128392	1893,8195	1593	3451	5044	SO:0001583	missense	9819	exon1			CAGAATGCTTCCT	AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.1255G>A	3.37:g.150128392G>A	ENSP00000354543:p.Ala419Thr	0	0		9	9	NM_014779	0	0	0	2	2	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	433	0.19826007326007325	126	0.25609756097560976	72	0.19889502762430938	23	0.04020979020979021	212	0.2796833773087071	G	1.438	-0.568481	0.03910	0.136535	0.211243	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.30182	1.54;1.54	3.57	1.47	0.22746	.	0.687211	0.12935	N	0.427041	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.002	T	0.33599	-0.9862	9	0.51188	T	0.08	.	6.993	0.24765	0.0:0.4503:0.379:0.1707	rs879634;rs3749399;rs58335631	419;419	O75157-2;O75157	.;T22D2_HUMAN	T	419	ENSP00000354543:A419T;ENSP00000354893:A419T	ENSP00000354893:A419T	A	+	1	0	TSC22D2	151611082	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.305000	0.19254	0.805000	0.34159	0.557000	0.71058	GCT	G|0.797;A|0.203		0.771	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779	
FAT4	79633	bcgsc.ca	37	4	126238924	126238924	+	Missense_Mutation	SNP	A	A	T	rs6847454	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr4:126238924A>T	ENST00000394329.3	+	1	1371	c.1358A>T	c.(1357-1359)cAg>cTg	p.Q453L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	453	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Q -> L (in dbSNP:rs6847454).		branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCAGCAGTCCAGGCGCGCTCT	0.557											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	2135	0.426318	0.615	0.4092	5008	,	,		18623	0.2371		0.4205	False		,,,				2504	0.3845				p.Q453L		.											.	FAT4-108	0			c.A1358T						.	A	LEU/GLN	2215,1847		622,971,438	43.0	46.0	45.0		1358	-2.6	0.1	4	dbSNP_116	45	3559,4781		753,2053,1364	yes	missense	FAT4	NM_024582.4	113	1375,3024,1802	TT,TA,AA		42.6739,45.4702,46.557	benign	453/4982	126238924	5774,6628	2031	4170	6201	SO:0001583	missense	79633	exon1			CAGTCCAGGCGCG	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1358A>T	4.37:g.126238924A>T	ENSP00000377862:p.Gln453Leu	260	3	1548	207	7	NM_024582	0	0	2	2	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	914	0.4184981684981685	309	0.6280487804878049	150	0.4143646408839779	134	0.23426573426573427	321	0.4234828496042216	A	1.356	-0.590036	0.03799	0.545298	0.426739	ENSG00000196159	ENST00000394329	T	0.53640	0.61	3.81	-2.64	0.06114	Cadherin (4);Cadherin-like (1);	1.015660	0.07944	U	0.979875	T	0.00012	0.0000	N	0.08118	0	0.38401	P	0.05432099999999995	B	0.09022	0.002	B	0.13407	0.009	T	0.45101	-0.9284	9	0.28530	T	0.3	.	7.174	0.25734	0.3191:0.1978:0.4831:0.0	rs6847454;rs52793335;rs58376448;rs6847454	453	Q6V0I7	FAT4_HUMAN	L	453	ENSP00000377862:Q453L	ENSP00000377862:Q453L	Q	+	2	0	FAT4	126458374	0.049000	0.20398	0.080000	0.20451	0.545000	0.35147	0.150000	0.16263	-0.504000	0.06577	0.459000	0.35465	CAG	A|0.518;T|0.482		0.557	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
EDIL3	10085	bcgsc.ca	37	5	83259162	83259162	+	Silent	SNP	T	T	C			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr5:83259162T>C	ENST00000296591.5	-	10	1573	c.1155A>G	c.(1153-1155)ccA>ccG	p.P385P	EDIL3_ENST00000380138.3_Silent_p.P375P	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	385	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TCACTTTGGTTGGAACAAGAA	0.373																																					p.P385P		.											.	EDIL3-131	0			c.A1155G						.						99.0	95.0	96.0					5																	83259162		2203	4300	6503	SO:0001819	synonymous_variant	10085	exon10			TTTGGTTGGAACA	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1155A>G	5.37:g.83259162T>C		60	0		93	6	NM_005711	0	0	133	133	0	B2R763|O43855|Q5D094|Q8N610	Silent	SNP	ENST00000296591.5	37	CCDS4062.1																																																																																			.		0.373	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711	
MAN2A1	4124	broad.mit.edu;bcgsc.ca	37	5	109091082	109091082	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr5:109091082G>A	ENST00000261483.4	+	5	1812	c.760G>A	c.(760-762)Gat>Aat	p.D254N		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	254					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GGTTATGCCTGATGAAGCTAC	0.318																																					p.D254N		.											.	MAN2A1-92	0			c.G760A						.						133.0	131.0	132.0					5																	109091082		2202	4300	6502	SO:0001583	missense	4124	exon5			ATGCCTGATGAAG		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.760G>A	5.37:g.109091082G>A	ENSP00000261483:p.Asp254Asn	116	0		147	8	NM_002372	0	0	22	22	0	Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	G	32	5.157388	0.94686	.	.	ENSG00000112893	ENST00000261483	D	0.85773	-2.03	5.44	5.44	0.79542	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.85682	D	0.000000	D	0.95947	0.8680	H	0.98980	4.39	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.97764	1.0222	10	0.87932	D	0	-26.6293	18.0355	0.89301	0.0:0.0:1.0:0.0	.	254	Q16706	MA2A1_HUMAN	N	254	ENSP00000261483:D254N	ENSP00000261483:D254N	D	+	1	0	MAN2A1	109118981	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	9.690000	0.98676	2.539000	0.85634	0.555000	0.69702	GAT	.		0.318	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1		
PROB1	389333	hgsc.bcm.edu	37	5	138730190	138730190	+	Missense_Mutation	SNP	T	T	A	rs199886274		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr5:138730190T>A	ENST00000434752.2	-	1	695	c.581A>T	c.(580-582)gAg>gTg	p.E194V		NM_001161546.1	NP_001155018.1	E7EW31	PROB1_HUMAN	proline-rich basic protein 1	194	Pro-rich.																GGCGCCCTCCTCCAGAGCCAC	0.761													T|||	1	0.000199681	0.0	0.0	5008	,	,		10330	0.0		0.001	False		,,,				2504	0.0				p.E194V		.											.	.	0			c.A581T						.						2.0	3.0	3.0					5																	138730190		508	1262	1770	SO:0001583	missense	389333	exon1			CCCTCCTCCAGAG	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.581A>T	5.37:g.138730190T>A	ENSP00000416033:p.Glu194Val	0	0		11	8	NM_001161546	0	0	0	0	0	B4E007	Missense_Mutation	SNP	ENST00000434752.2	37	CCDS54909.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.382961	0.61845	.	.	ENSG00000228672	ENST00000434752	.	.	.	4.4	3.23	0.37069	.	.	.	.	.	T	0.46464	0.1394	L	0.34521	1.04	0.29661	N	0.843217	D	0.71674	0.998	D	0.69479	0.964	T	0.41484	-0.9506	8	0.87932	D	0	.	4.027	0.09692	0.181:0.0984:0.0:0.7206	.	194	E7EW31	CE065_HUMAN	V	194	.	ENSP00000416033:E194V	E	-	2	0	AC135457.1	138758089	0.988000	0.35896	1.000000	0.80357	0.699000	0.40488	1.134000	0.31442	0.837000	0.34925	-0.361000	0.07541	GAG	.		0.761	PROB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470735.1	NM_001161546	
HLA-A	3105	bcgsc.ca	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.Q78R		.											.	HLA-A-92	2	Substitution - Missense(2)	lung(1)|endometrium(1)	c.A233G						.						54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	exon2	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	TAGAGCAGGAGGG	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	190	3		229	20	NM_001242758	1	0	890	892	1	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG	A|0.979;G|0.021		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116	
MCCD1	401250	bcgsc.ca	37	6	31497706	31497706	+	Silent	SNP	C	C	T	rs2075582	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr6:31497706C>T	ENST00000376191.2	+	2	652	c.354C>T	c.(352-354)ggC>ggT	p.G118G	DDX39B_ENST00000462421.1_5'Flank	NM_001011700.2	NP_001011700.2	P59942	MCCD1_HUMAN	mitochondrial coiled-coil domain 1	118						mitochondrion (GO:0005739)				skin(1)	1						TTGGAGGAGGCGCCTAAGTTT	0.602																																					p.G118G		.											.	MCCD1-90	0			c.C354T						.	C		2456,484		1032,392,46	17.0	10.0	12.0		354	-8.9	0.0	6	dbSNP_96	12	4016,1284		1550,916,184	no	coding-synonymous	MCCD1	NM_001011700.2		2582,1308,230	TT,TC,CC		24.2264,16.4626,21.4563		118/120	31497706	6472,1768	1470	2650	4120	SO:0001819	synonymous_variant	401250	exon2			AGGAGGCGCCTAA		CCDS34396.1	6p21.3	2003-10-17				ENSG00000204511			20668	protein-coding gene	gene with protein product		609624				14527716	Standard	NM_001011700		Approved		uc003ntp.1	P59942		ENST00000376191.2:c.354C>T	6.37:g.31497706C>T		230	1		205	8	NM_001011700	0	0	0	0	0	A2AB29|A2RUP7|B0UZB2|Q7RTY2	Silent	SNP	ENST00000376191.2	37	CCDS34396.1																																																																																			C|0.215;T|0.785		0.602	MCCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259099.1		
RP3-470B24.5	0	broad.mit.edu	37	6	168377311	168377313	+	lincRNA	DEL	AGA	AGA	-			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr6:168377311_168377313delAGA	ENST00000538528.1	-	0	306_308																											TTGGGGGAGGAGAAGAAGGCAGT	0.64																																					p.7_8del		.											.	.	0			c.20_22del						.																																					0	exon1			GGGAGGAGAAGAA																													6.37:g.168377314_168377316delAGA		129	2		120	7	NM_001129895	0	0	0	0	0		In_Frame_Del	DEL	ENST00000538528.1	37																																																																																				.		0.640	RP3-470B24.5-201	KNOWN	basic	lincRNA	lincRNA			
TNRC18	84629	hgsc.bcm.edu	37	7	5372499	5372499	+	Silent	SNP	C	C	T	rs113405524	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr7:5372499C>T	ENST00000430969.1	-	19	6249	c.5901G>A	c.(5899-5901)aaG>aaA	p.K1967K	TNRC18_ENST00000399537.4_Silent_p.K1967K	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1967							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTTGCGCCCCTTCTCCACCG	0.771													C|||	67	0.0133786	0.0	0.0086	5008	,	,		9553	0.0		0.0149	False		,,,				2504	0.047				p.K1967K		.											.	TNRC18-46	0			c.G5901A						.	C		2,2776		0,2,1387	3.0	4.0	3.0		5901	3.2	1.0	7	dbSNP_132	3	19,6349		0,19,3165	no	coding-synonymous	TNRC18	NM_001080495.2		0,21,4552	TT,TC,CC		0.2984,0.072,0.2296		1967/2969	5372499	21,9125	1389	3184	4573	SO:0001819	synonymous_variant	84629	exon19			GCGCCCCTTCTCC	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.5901G>A	7.37:g.5372499C>T		0	0		8	4	NM_001080495	0	0	0	0	0	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1	23	0.010531135531135532	7	0.014227642276422764	3	0.008287292817679558	2	0.0034965034965034965	11	0.014511873350923483	.	9.698	1.153785	0.21371	7.2E-4	0.002984	ENSG00000182095	ENST00000455076	.	.	.	4.35	3.21	0.36854	.	.	.	.	.	T	0.49847	0.1581	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51957	-0.8639	4	.	.	.	.	9.2245	0.37398	0.0:0.8174:0.0:0.1826	.	.	.	.	K	4	.	.	R	-	2	0	TNRC18	5339025	1.000000	0.71417	0.999000	0.59377	0.817000	0.46193	0.720000	0.25896	1.955000	0.56771	0.555000	0.69702	AGG	C|0.989;T|0.011		0.771	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
RAPGEF5	9771	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	22348060	22348060	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr7:22348060T>C	ENST00000405243.1	-	5	661	c.578A>G	c.(577-579)tAc>tGc	p.Y193C	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.Y40C			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	121	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						ACAGTACAAGTAGCTACATTC	0.363																																					p.Y40C		.											.	RAPGEF5-206	0			c.A119G						.						71.0	66.0	67.0					7																	22348060		1875	4099	5974	SO:0001583	missense	9771	exon5			TACAAGTAGCTAC	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000405243.1:c.578A>G	7.37:g.22348060T>C	ENSP00000384870:p.Tyr193Cys	62	0		117	7	NM_012294	0	0	0	0	0	A4D140|Q8IXU5	Missense_Mutation	SNP	ENST00000405243.1	37		.	.	.	.	.	.	.	.	.	.	T	13.00	2.107632	0.37145	.	.	ENSG00000136237	ENST00000344041;ENST00000405243	T;T	0.13778	2.56;2.56	6.03	4.87	0.63330	.	0.150151	0.42172	D	0.000752	T	0.14184	0.0343	L	0.47716	1.5	0.34455	D	0.701131	B	0.02656	0.0	B	0.01281	0.0	T	0.06041	-1.0849	10	0.45353	T	0.12	.	12.3361	0.55067	0.0:0.0659:0.0:0.9341	.	40	A8MQ07	.	C	40;193	ENSP00000343656:Y40C;ENSP00000384870:Y193C	ENSP00000343656:Y40C	Y	-	2	0	RAPGEF5	22314585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.553000	0.36255	1.090000	0.41315	0.533000	0.62120	TAC	.		0.363	RAPGEF5-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000326591.1	NM_012294	
GARS	2617	hgsc.bcm.edu	37	7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	rs1049402	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000584199.1_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		7	7	NM_002047	0	0	0	104	104	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	
RAMP3	10268	hgsc.bcm.edu	37	7	45197433	45197433	+	Silent	SNP	G	G	A	rs67477213	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr7:45197433G>A	ENST00000242249.4	+	1	44	c.6G>A	c.(4-6)gaG>gaA	p.E2E	RAMP3_ENST00000496212.1_Silent_p.E2E|RAMP3_ENST00000481345.1_Silent_p.E2E	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	2					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CAGCCATGGAGACTGGAGCGC	0.771													G|||	1244	0.248403	0.4947	0.1657	5008	,	,		7876	0.0159		0.2276	False		,,,				2504	0.2352				p.E2E		.											.	RAMP3-90	0			c.G6A						.	G		1194,2386		196,802,792	3.0	3.0	3.0		6	2.0	0.0	7	dbSNP_130	3	1312,6004		141,1030,2487	no	coding-synonymous	RAMP3	NM_005856.2		337,1832,3279	AA,AG,GG		17.9333,33.352,22.9993		2/149	45197433	2506,8390	1790	3658	5448	SO:0001819	synonymous_variant	10268	exon1			CATGGAGACTGGA	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"""Receptor (G protein-coupled) activity modifying proteins"""	9845	protein-coding gene	gene with protein product		605155	"""receptor activity modifying protein 3"", ""receptor (calcitonin) activity modifying protein 3"""				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.6G>A	7.37:g.45197433G>A		0	0		6	6	NM_005856	0	0	0	36	36	Q7Z2Y1	Silent	SNP	ENST00000242249.4	37	CCDS5503.1																																																																																			G|0.760;A|0.240		0.771	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856	
COBL	23242	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	51111334	51111334	+	Silent	SNP	C	C	A			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr7:51111334C>A	ENST00000265136.7	-	8	1317	c.1152G>T	c.(1150-1152)gtG>gtT	p.V384V	COBL_ENST00000395542.2_Silent_p.V466V	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	384					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCTCTGACAGCACCTGCGGGG	0.627																																					p.V384V	NSCLC(189;2119 2138 12223 30818 34679)	.											.	COBL-95	0			c.G1152T						.						45.0	43.0	44.0					7																	51111334		2203	4300	6503	SO:0001819	synonymous_variant	23242	exon8			TGACAGCACCTGC	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1152G>T	7.37:g.51111334C>A		81	0		104	43	NM_015198	0	0	0	0	0	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	4.124	0.021174	0.08006	.	.	ENSG00000106078	ENST00000452534	.	.	.	5.19	-1.35	0.09114	.	.	.	.	.	T	0.18882	0.0453	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24048	-1.0171	4	.	.	.	.	1.1276	0.01738	0.1445:0.3222:0.2818:0.2515	.	.	.	.	S	360	.	.	A	-	1	0	COBL	51078828	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.379000	0.07437	-0.231000	0.09825	-0.947000	0.02670	GCT	.		0.627	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	
POM121L12	285877	hgsc.bcm.edu;broad.mit.edu	37	7	53103693	53103693	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr7:53103693G>T	ENST00000408890.4	+	1	345	c.329G>T	c.(328-330)cGa>cTa	p.R110L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	110										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCTCTGGGGCGAGACCTCTCC	0.716																																					p.R110L		.											.	.	0			c.G329T						.						24.0	28.0	27.0					7																	53103693		1976	4131	6107	SO:0001583	missense	285877	exon1			TGGGGCGAGACCT		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.329G>T	7.37:g.53103693G>T	ENSP00000386133:p.Arg110Leu	21	0		82	8	NM_182595	0	0	0	0	0	Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	4.354	0.065257	0.08388	.	.	ENSG00000221900	ENST00000408890	T	0.21191	2.02	1.55	-2.22	0.06952	.	.	.	.	.	T	0.07098	0.0180	N	0.08118	0	0.09310	N	1	B	0.27971	0.196	B	0.14023	0.01	T	0.36480	-0.9746	9	0.16896	T	0.51	.	4.0799	0.09921	0.0:0.2747:0.5148:0.2105	.	110	Q8N7R1	P1L12_HUMAN	L	110	ENSP00000386133:R110L	ENSP00000386133:R110L	R	+	2	0	POM121L12	53071187	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.729000	0.04920	-0.722000	0.04922	-0.502000	0.04539	CGA	.		0.716	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
KMT2C	58508	bcgsc.ca	37	7	151962269	151962269	+	Silent	SNP	C	C	T			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr7:151962269C>T	ENST00000262189.6	-	8	1256	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	KMT2C_ENST00000355193.2_Silent_p.V346V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	346					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGCTGTCGCACACTGCACAGT	0.368																																					p.V346V		.											.	MLL3-1398	0			c.G1038A						.						108.0	97.0	101.0					7																	151962269		2203	4298	6501	SO:0001819	synonymous_variant	58508	exon8			GTCGCACACTGCA	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1038G>A	7.37:g.151962269C>T		309	9		264	25	NM_170606	0	0	1	1	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																			.		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
NOM1	64434	hgsc.bcm.edu	37	7	156742501	156742501	+	Missense_Mutation	SNP	C	C	G	rs6969990	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr7:156742501C>G	ENST00000275820.3	+	1	85	c.70C>G	c.(70-72)Cgc>Ggc	p.R24G		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	24	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		R -> G (in dbSNP:rs6969990).			nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CCGCATGAAGCGCAGAggcgg	0.721													.|||	1013	0.202276	0.2042	0.2392	5008	,	,		7202	0.2778		0.1511	False		,,,				2504	0.1483				p.R24G		.											.	NOM1-90	0			c.C70G						.	C	GLY/ARG	460,2914		22,416,1249	3.0	4.0	3.0		70	4.4	0.0	7	dbSNP_116	3	715,6171		26,663,2754	no	missense	NOM1	NM_138400.1	125	48,1079,4003	GG,GC,CC		10.3834,13.6337,11.4522	probably-damaging	24/861	156742501	1175,9085	1687	3443	5130	SO:0001583	missense	64434	exon1			ATGAAGCGCAGAG	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.70C>G	7.37:g.156742501C>G	ENSP00000275820:p.Arg24Gly	1	0		7	4	NM_138400	0	0	0	1	1	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	459	0.21016483516483517	100	0.2032520325203252	69	0.19060773480662985	164	0.2867132867132867	126	0.1662269129287599	C	17.33	3.362797	0.61403	0.136337	0.103834	ENSG00000146909	ENST00000275820	T	0.13307	2.6	4.36	4.36	0.52297	.	1.850510	0.03172	N	0.170899	T	0.00012	0.0000	L	0.27053	0.805	0.58432	P	9.99999999995449E-6	D	0.64830	0.994	P	0.54924	0.764	T	0.39603	-0.9606	9	0.87932	D	0	-1.3828	15.9395	0.79743	0.0:1.0:0.0:0.0	rs6969990;rs6969990	24	Q5C9Z4	NOM1_HUMAN	G	24	ENSP00000275820:R24G	ENSP00000275820:R24G	R	+	1	0	NOM1	156435262	0.939000	0.31865	0.023000	0.16930	0.179000	0.23085	3.589000	0.53972	1.979000	0.57680	0.306000	0.20318	CGC	C|0.663;G|0.337		0.721	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	
DLGAP2	9228	broad.mit.edu	37	8	1626628	1626628	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr8:1626628A>C	ENST00000421627.2	+	9	2431	c.2297A>C	c.(2296-2298)gAc>gCc	p.D766A	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	845					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCCCCTCCAGACCCCTGGCTG	0.612																																					p.D766A		.											.	DLGAP2-22	0			c.A2297C						.						21.0	25.0	24.0					8																	1626628		1874	4109	5983	SO:0001583	missense	9228	exon9			CTCCAGACCCCTG	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2297A>C	8.37:g.1626628A>C	ENSP00000400258:p.Asp766Ala	97	17		77	13	NM_004745	0	0	0	0	0	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.931|9.931	1.214878|1.214878	0.22373|0.22373	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.19394|.	2.15|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.358149|.	0.29113|.	N|.	0.013116|.	T|T	0.65048|0.65048	0.2654|0.2654	L|L	0.54965|0.54965	1.715|1.715	0.38350|0.38350	D|D	0.944301|0.944301	B;B|.	0.24721|.	0.11;0.064|.	B;B|.	0.33042|.	0.157;0.114|.	T|T	0.66870|0.66870	-0.5814|-0.5814	10|5	0.87932|.	D|.	0|.	-12.6457|-12.6457	15.2784|15.2784	0.73760|0.73760	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	831;845|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	A|P	797;766|769	ENSP00000400258:D766A|.	ENSP00000348366:D797A|.	D|T	+|+	2|1	0|0	DLGAP2|DLGAP2	1614035|1614035	0.993000|0.993000	0.37304|0.37304	0.599000|0.599000	0.28851|0.28851	0.085000|0.085000	0.17905|0.17905	3.185000|3.185000	0.50934|0.50934	2.003000|2.003000	0.58678|0.58678	0.528000|0.528000	0.53228|0.53228	GAC|ACC	.		0.612	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	
EPPK1	83481	hgsc.bcm.edu	37	8	144940658	144940658	+	Missense_Mutation	SNP	C	C	T	rs201270359		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr8:144940658C>T	ENST00000525985.1	-	2	6835	c.6764G>A	c.(6763-6765)cGg>cAg	p.R2255Q				P58107	EPIPL_HUMAN	epiplakin 1	2255						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTGCCGGGCCGCAGCACGCC	0.721																																					p.R2255Q		.											.	EPPK1-25	0			c.G6764A						.	C	GLN/ARG	13,4339		0,13,2163	50.0	47.0	48.0		6764	4.7	1.0	8		48	10,8504		0,10,4247	yes	missense	EPPK1	NM_031308.1	43	0,23,6410	TT,TC,CC		0.1175,0.2987,0.1788	probably-damaging	2255/2420	144940658	23,12843	2176	4257	6433	SO:0001583	missense	83481	exon1			CCGGGCCGCAGCA	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6764G>A	8.37:g.144940658C>T	ENSP00000436337:p.Arg2255Gln	2	0		32	15	NM_031308	0	0	0	0	0	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	C	22.6	4.313731	0.81358	0.002987	0.001175	ENSG00000227184	ENST00000525985	T	0.73047	-0.71	4.67	4.67	0.58626	.	.	.	.	.	T	0.82061	0.4955	M	0.69358	2.11	0.29694	N	0.840709	D	0.89917	1.0	D	0.78314	0.991	T	0.76979	-0.2758	9	0.40728	T	0.16	.	15.1226	0.72457	0.0:1.0:0.0:0.0	.	2255	E9PPU0	.	Q	2255	ENSP00000436337:R2255Q	ENSP00000436337:R2255Q	R	-	2	0	EPPK1	145012646	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	3.431000	0.52814	2.420000	0.82092	0.591000	0.81541	CGG	.		0.721	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
TUSC1	286319	hgsc.bcm.edu	37	9	25678122	25678122	+	Silent	SNP	G	G	C	rs72631814	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr9:25678122G>C	ENST00000358022.3	-	1	734	c.198C>G	c.(196-198)gcC>gcG	p.A66A		NM_001004125.2	NP_001004125.1	Q2TAM9	TUSC1_HUMAN	tumor suppressor candidate 1	66										kidney(1)	1	all_hematologic(1;0.197)	all_neural(3;5.42e-18)|Glioma(3;5.54e-17)		GBM - Glioblastoma multiforme(1;1.51e-108)|Lung(42;2.88e-14)|LUSC - Lung squamous cell carcinoma(38;3.16e-11)		CCGCCAGGTCGGCAAACCGCT	0.776													G|||	885	0.176717	0.1324	0.1772	5008	,	,		7019	0.1151		0.3002	False		,,,				2504	0.1728				p.A66A	Pancreas(19;648 672 25630 30820 31331)	.											.	TUSC1-90	0			c.C198G						.	G		389,3633		24,341,1646	6.0	6.0	6.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	198	0.6	1.0	9	dbSNP_130	6	1826,6086		225,1376,2355	no	coding-synonymous	TUSC1	NM_001004125.2		249,1717,4001	CC,CG,GG		23.0789,9.6718,18.5604		66/213	25678122	2215,9719	2011	3956	5967	SO:0001819	synonymous_variant	286319	exon1			CAGGTCGGCAAAC	AY168647	CCDS34999.1	9p21.2	2014-05-22			ENSG00000198680	ENSG00000198680			31010	protein-coding gene	gene with protein product		610529				15208665	Standard	NM_001004125		Approved	TSG-9	uc003zpx.3	Q2TAM9	OTTHUMG00000159591	ENST00000358022.3:c.198C>G	9.37:g.25678122G>C		0	0		17	7	NM_001004125	0	0	5	5	0	A0PJ78|Q67GI3|Q86SS1|Q8TAH8	Silent	SNP	ENST00000358022.3	37	CCDS34999.1																																																																																			G|0.807;C|0.193		0.776	TUSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356351.1	NM_001004125	
CTSL	1514	ucsc.edu;bcgsc.ca	37	9	90346015	90346015	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr9:90346015C>G	ENST00000343150.5	+	8	1885	c.995C>G	c.(994-996)aCt>aGt	p.T332S	CTSL_ENST00000495822.1_3'UTR|CTSL_ENST00000340342.6_Missense_Mutation_p.T332S			P07711	CATL1_HUMAN	cathepsin L	332					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										AGCTACCCCACTGTGTGAGCT	0.552																																					p.T332S		.											.	CTSL1-93	0			c.C995G						.						80.0	62.0	68.0					9																	90346015		2203	4300	6503	SO:0001583	missense	1514	exon8			ACCCCACTGTGTG	X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.995C>G	9.37:g.90346015C>G	ENSP00000345344:p.Thr332Ser	124	2		89	49	NM_145918	0	0	49	325	276	Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187021	0.38609	.	.	ENSG00000135047	ENST00000343150;ENST00000340342	D;D	0.87412	-2.25;-2.25	3.94	-1.49	0.08718	Peptidase C1A, papain C-terminal (2);	0.641465	0.16118	N	0.228774	T	0.80974	0.4727	L	0.50333	1.59	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.70436	-0.4872	10	0.56958	D	0.05	.	9.3979	0.38415	0.0:0.2548:0.0:0.7452	.	332	P07711	CATL1_HUMAN	S	332	ENSP00000345344:T332S;ENSP00000365061:T332S	ENSP00000365061:T332S	T	+	2	0	CTSL1	89535835	0.002000	0.14202	0.000000	0.03702	0.632000	0.37999	1.310000	0.33551	-0.177000	0.10690	0.591000	0.81541	ACT	.		0.552	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912	
SECISBP2	79048	ucsc.edu	37	9	91947874	91947874	+	Missense_Mutation	SNP	G	G	A	rs367986134		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr9:91947874G>A	ENST00000375807.3	+	6	924	c.853G>A	c.(853-855)Gct>Act	p.A285T	SECISBP2_ENST00000339901.4_Missense_Mutation_p.A212T|SECISBP2_ENST00000534113.2_Missense_Mutation_p.A217T	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	285					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)	p.A285T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TGCTAATGCCGCTACCAATTC	0.318																																					p.A285T		.											.	SECISBP2-93	1	Substitution - Missense(1)	ovary(1)	c.G853A						.	G	THR/ALA	0,4406		0,0,2203	91.0	86.0	88.0		853	0.1	0.0	9		88	3,8597	3.0+/-9.4	0,3,4297	no	missense	SECISBP2	NM_024077.3	58	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	285/855	91947874	3,13003	2203	4300	6503	SO:0001583	missense	79048	exon6			AATGCCGCTACCA	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.853G>A	9.37:g.91947874G>A	ENSP00000364965:p.Ala285Thr	71	1		38	4	NM_024077	0	0	26	26	0	F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	G	7.342	0.621061	0.14193	0.0	3.49E-4	ENSG00000187742	ENST00000375807;ENST00000339901;ENST00000534113;ENST00000425851	T;T;T;T	0.73469	-0.73;-0.75;-0.74;0.85	4.19	0.06	0.14334	.	.	.	.	.	T	0.45034	0.1322	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.27971	0.123;0.196;0.123;0.196	B;B;B;B	0.14578	0.005;0.011;0.005;0.011	T	0.22977	-1.0201	9	0.11485	T	0.65	-0.3552	2.3191	0.04206	0.099:0.1744:0.4081:0.3185	.	284;212;285;217	B4DZC7;Q96T21-2;Q96T21;F8W892	.;.;SEBP2_HUMAN;.	T	285;212;217;120	ENSP00000364965:A285T;ENSP00000364959:A212T;ENSP00000436650:A217T;ENSP00000414288:A120T	ENSP00000364959:A212T	A	+	1	0	SECISBP2	91137694	0.000000	0.05858	0.000000	0.03702	0.220000	0.24768	0.108000	0.15396	0.013000	0.14918	0.650000	0.86243	GCT	.		0.318	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077	
AKAP2	11217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	112899504	112899504	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr9:112899504A>T	ENST00000259318.7	+	2	1194	c.987A>T	c.(985-987)caA>caT	p.Q329H	AKAP2_ENST00000374525.1_Missense_Mutation_p.Q418H|AKAP2_ENST00000434623.2_Missense_Mutation_p.Q418H|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.Q560H|AKAP2_ENST00000555236.1_Missense_Mutation_p.Q560H|AKAP2_ENST00000510514.5_Missense_Mutation_p.Q560H|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Q560H	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	329										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CTCGCAAACAATTTCAGCTGA	0.527																																					p.Q560H		.											.	PALM2-AKAP2-475	0			c.A1680T						.						29.0	29.0	29.0					9																	112899504		2201	4300	6501	SO:0001583	missense	445815	exon8			CAAACAATTTCAG	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.987A>T	9.37:g.112899504A>T	ENSP00000259318:p.Gln329His	96	0		70	13	NM_007203	0	0	18	26	8	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702850	0.48307	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	6.07	3.22	0.36961	.	0.000000	0.85682	D	0.000000	T	0.71221	0.3314	M	0.70275	2.135	0.45567	D	0.998516	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.998;0.999;0.999;0.999	D;D;D;D;D;D;D;D	0.87578	0.997;0.998;0.979;0.998;0.995;0.984;0.984;0.965	T	0.70494	-0.4856	10	0.87932	D	0	-28.9006	8.8844	0.35394	0.287:0.0:0.713:0.0	.	329;418;412;418;419;560;560;378	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	H	560;560;560;560;418;418;378;329	ENSP00000363654:Q560H;ENSP00000305861:Q560H;ENSP00000451476:Q560H;ENSP00000421522:Q560H;ENSP00000404782:Q418H;ENSP00000363649:Q418H;ENSP00000419268:Q378H;ENSP00000259318:Q329H	ENSP00000259318:Q329H	Q	+	3	2	PALM2-AKAP2;AKAP2	111939325	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.976000	0.40579	0.427000	0.26145	-0.912000	0.02778	CAA	.		0.527	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065	
GSN	2934	bcgsc.ca	37	9	124083614	124083614	+	Silent	SNP	C	C	T	rs2304393	byFrequency	TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr9:124083614C>T	ENST00000373818.4	+	10	1482	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G	GSN_ENST00000436847.1_Silent_p.G431G|GSN_ENST00000412819.1_Silent_p.G420G|GSN_ENST00000373823.3_Silent_p.G420G|GSN_ENST00000545652.1_Silent_p.G428G|GSN_ENST00000394353.2_Silent_p.G431G|GSN_ENST00000373808.2_Silent_p.G420G|GSN_ENST00000341272.2_Silent_p.G420G|GSN_ENST00000449733.1_Silent_p.G420G|GSN_ENST00000373807.1_Silent_p.G202G	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	471	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TCTATGGAGGCGACAGCTACA	0.547													C|||	428	0.0854633	0.0779	0.0418	5008	,	,		18140	0.1776		0.0457	False		,,,				2504	0.0726				p.G471G		.											.	GSN-154	0			c.C1413T						.	C	,,,,,,,	348,4058	181.2+/-209.3	18,312,1873	79.0	71.0	73.0		1413,1260,1260,1260,1260,1293,1293,1260	-10.1	0.0	9	dbSNP_100	73	344,8256	117.4+/-177.0	7,330,3963	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GSN	NM_000177.4,NM_001127662.1,NM_001127663.1,NM_001127664.1,NM_001127665.1,NM_001127666.1,NM_001127667.1,NM_198252.2	,,,,,,,	25,642,5836	TT,TC,CC		4.0,7.8983,5.3206	,,,,,,,	471/783,420/732,420/732,420/732,420/732,431/743,431/743,420/732	124083614	692,12314	2203	4300	6503	SO:0001819	synonymous_variant	2934	exon10			TGGAGGCGACAGC	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1413C>T	9.37:g.124083614C>T		133	1		95	6	NM_000177	0	0	286	286	0	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Silent	SNP	ENST00000373818.4	37	CCDS6828.1																																																																																			C|0.923;T|0.077		0.547	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177	
NR5A1	2516	broad.mit.edu	37	9	127262468	127262468	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr9:127262468G>C	ENST00000373588.4	-	4	967	c.771C>G	c.(769-771)gaC>gaG	p.D257E		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	257	Important for dimerization.				adrenal gland development (GO:0030325)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|hormone metabolic process (GO:0042445)|intracellular receptor signaling pathway (GO:0030522)|luteinization (GO:0001553)|maintenance of protein location in nucleus (GO:0051457)|male gonad development (GO:0008584)|multicellular organismal aging (GO:0010259)|negative regulation of female gonad development (GO:2000195)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|primary sex determination (GO:0007538)|regulation of steroid biosynthetic process (GO:0050810)|tissue development (GO:0009888)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(1)|upper_aerodigestive_tract(1)	2						CCGCCGGCTGGTCGGGGCGGC	0.662																																					p.D257E		.											.	NR5A1-186	0			c.C771G						.						16.0	19.0	18.0					9																	127262468		2201	4293	6494	SO:0001583	missense	2516	exon4			CGGCTGGTCGGGG	D88155	CCDS6856.1	9q33	2013-01-16			ENSG00000136931	ENSG00000136931		"""Nuclear hormone receptors"""	7983	protein-coding gene	gene with protein product		184757		FTZF1		7789992	Standard	NM_004959		Approved	FTZ1, SF-1, ELP, AD4BP	uc004boo.1	Q13285	OTTHUMG00000020655	ENST00000373588.4:c.771C>G	9.37:g.127262468G>C	ENSP00000362690:p.Asp257Glu	31	0		71	3	NM_004959	0	0	49	49	0	O15196|Q5T6F5	Missense_Mutation	SNP	ENST00000373588.4	37	CCDS6856.1	.	.	.	.	.	.	.	.	.	.	G	0.117	-1.130634	0.01756	.	.	ENSG00000136931	ENST00000373588;ENST00000373587	D;D	0.98550	-4.99;-1.75	4.94	-0.987	0.10249	Nuclear hormone receptor, ligand-binding (2);	0.159470	0.56097	N	0.000036	D	0.87136	0.6102	N	0.01576	-0.805	0.30202	N	0.798544	B	0.02656	0.0	B	0.04013	0.001	T	0.83275	-0.0041	10	0.02654	T	1	.	3.2061	0.06666	0.0825:0.3491:0.244:0.3243	.	257	Q13285	STF1_HUMAN	E	257;41	ENSP00000362690:D257E;ENSP00000362689:D41E	ENSP00000362689:D41E	D	-	3	2	NR5A1	126302289	0.958000	0.32768	0.979000	0.43373	0.261000	0.26267	0.005000	0.13129	0.087000	0.17167	0.655000	0.94253	GAC	.		0.662	NR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054029.1	NM_004959	
COL5A1	1289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	137676893	137676893	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr9:137676893G>A	ENST00000371817.3	+	30	2957	c.2543G>A	c.(2542-2544)cGc>cAc	p.R848H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	848	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAAAGGGTCGCGGAGGTCCC	0.637																																					p.R848H		.											.	COL5A1-524	0			c.G2543A						.						37.0	43.0	41.0					9																	137676893		2203	4299	6502	SO:0001583	missense	1289	exon30			AGGGTCGCGGAGG	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2543G>A	9.37:g.137676893G>A	ENSP00000360882:p.Arg848His	59	0		56	7	NM_000093	0	0	6	9	3	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.174704	0.78452	.	.	ENSG00000130635	ENST00000371817	D	0.96992	-4.2	4.39	4.39	0.52855	.	0.000000	0.64402	U	0.000002	D	0.96439	0.8838	L	0.31207	0.915	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97184	0.9853	10	0.59425	D	0.04	.	15.7525	0.77997	0.0:0.0:1.0:0.0	.	848	P20908	CO5A1_HUMAN	H	848	ENSP00000360882:R848H	ENSP00000360882:R848H	R	+	2	0	COL5A1	136816714	1.000000	0.71417	0.987000	0.45799	0.554000	0.35429	6.593000	0.74100	1.999000	0.58509	0.298000	0.19748	CGC	.		0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
RBBP7	5931	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	16871808	16871808	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chrX:16871808A>G	ENST00000380087.2	-	6	1115	c.755T>C	c.(754-756)aTg>aCg	p.M252T	RBBP7_ENST00000380084.4_Missense_Mutation_p.M296T|RBBP7_ENST00000404022.1_Missense_Mutation_p.M243T			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	252					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					ACCTTACATCATAAGTTTCTG	0.423																																					p.M296T		.											.	RBBP7-227	0			c.T887C						.						101.0	79.0	87.0					X																	16871808		2203	4300	6503	SO:0001583	missense	5931	exon6			TACATCATAAGTT	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.755T>C	X.37:g.16871808A>G	ENSP00000369427:p.Met252Thr	87	0		117	39	NM_001198719	0	0	0	5	5	Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.438873	0.63067	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000444437;ENST00000416035	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.44	4.26	0.50523	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.067648	0.85682	D	0.000000	T	0.72534	0.3472	L	0.52823	1.66	0.58432	D	0.999997	B;B;B;B	0.27166	0.016;0.17;0.005;0.021	B;P;B;P	0.56823	0.341;0.807;0.274;0.492	T	0.72953	-0.4135	10	0.87932	D	0	.	10.8006	0.46487	0.8431:0.1569:0.0:0.0	.	238;243;252;296	B0R0W4;E9PC52;Q16576;Q5JP00	.;.;RBBP7_HUMAN;.	T	252;296;243;56;172	ENSP00000369427:M252T;ENSP00000369424:M296T;ENSP00000386068:M243T;ENSP00000402796:M56T;ENSP00000392714:M172T	ENSP00000369424:M296T	M	-	2	0	RBBP7	16781729	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.443000	0.80521	0.773000	0.33404	0.486000	0.48141	ATG	.		0.423	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893	
KIAA1210	57481	broad.mit.edu	37	X	118222406	118222406	+	Silent	SNP	G	G	T			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chrX:118222406G>T	ENST00000402510.2	-	11	2786	c.2787C>A	c.(2785-2787)acC>acA	p.T929T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	929										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CCACTGAACTGGTGGGGACTT	0.488																																					p.T929T		.											.	KIAA1210-67	0			c.C2787A						.						56.0	50.0	52.0					X																	118222406		1901	4117	6018	SO:0001819	synonymous_variant	57481	exon11			TGAACTGGTGGGG	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2787C>A	X.37:g.118222406G>T		122	0		130	5	NM_020721	0	0	0	0	0	B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	G	3.345	-0.133826	0.06711	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.46	-7.71	0.01254	.	.	.	.	.	T	0.31040	0.0784	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35500	-0.9786	4	.	.	.	.	12.0484	0.53493	0.0:0.1653:0.6923:0.1424	.	.	.	.	K	336	.	.	Q	-	1	0	KIAA1210	118106434	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.175000	0.03102	-1.755000	0.01320	-0.315000	0.08773	CAG	.		0.488	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
LAG3	3902	hgsc.bcm.edu	37	12	6887493	6887494	+	In_Frame_Ins	INS	-	-	CCGGAG			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr12:6887493_6887494insCCGGAG	ENST00000203629.2	+	8	1848_1849	c.1515_1516insCCGGAG	c.(1516-1518)ccg>CCGGAGccg	p.506_506P>PEP		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	506	12 X 2 AA tandem repeats of E-X.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TGGAGCAAGAAccggagccgga	0.629																																					p.E505delinsEPE		.											.	LAG3-90	0			c.1515_1516insCCGGAG						.																																			SO:0001652	inframe_insertion	3902	exon8			GCAAGAACCGGAG		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.1528_1533dupCCGGAG	12.37:g.6887494_6887499dupCCGGAG	ENSP00000203629:p.GluPro522dup	37	0		84	22	NM_002286	0	0	0	0	0	A8K7T9|Q7Z643	In_Frame_Ins	INS	ENST00000203629.2	37	CCDS8561.1																																																																																			.		0.629	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1		
MYO1A	4640	broad.mit.edu	37	12	57422572	57422573	+	Frame_Shift_Ins	INS	-	-	T			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr12:57422572_57422573insT	ENST00000442789.2	-	29	3385_3386	c.3098_3099insA	c.(3097-3099)aagfs	p.K1033fs	TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.K1033fs|MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.K871fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AATGACTCCCCTTTTTTTTGTA	0.559																																					p.K1033fs		.											.	MYO1A-231	1	Unknown(1)	skin(1)	c.3099_3100insA						.																																			SO:0001589	frameshift_variant	4640	exon28			ACTCCCCTTTTTT	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.3099dupA	12.37:g.57422580_57422580dupT	ENSP00000393392:p.Lys1033fs	173	0		243	7	NM_005379	0	0	0	0	0	Q9UQD7	Frame_Shift_Ins	INS	ENST00000442789.2	37	CCDS8929.1																																																																																			.		0.559	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
PLA2G1B	5319	broad.mit.edu	37	12	120763699	120763700	+	Frame_Shift_Ins	INS	-	-	A	rs376517815|rs78096484		TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr12:120763699_120763700insA	ENST00000308366.4	-	2	193_194	c.158_159insT	c.(157-159)ttgfs	p.L53fs	PLA2G1B_ENST00000423423.3_Frame_Shift_Ins_p.L53fs|PLA2G1B_ENST00000549767.1_Frame_Shift_Ins_p.L24fs	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	53					actin filament organization (GO:0007015)|activation of MAPK activity (GO:0000187)|activation of phospholipase A2 activity (GO:0032431)|antibacterial humoral response (GO:0019731)|arachidonic acid secretion (GO:0050482)|cellular response to insulin stimulus (GO:0032869)|defense response to Gram-positive bacterium (GO:0050830)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response in mucosa (GO:0002227)|interleukin-8 production (GO:0032637)|intracellular signal transduction (GO:0035556)|leukotriene biosynthetic process (GO:0019370)|multicellular organismal lipid catabolic process (GO:0044240)|neutrophil chemotaxis (GO:0030593)|neutrophil mediated immunity (GO:0002446)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine metabolic process (GO:0046470)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of immune response (GO:0050778)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	bile acid binding (GO:0032052)|calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				Niflumic Acid(DB04552)|Sulfasalazine(DB00795)	CTGAGCCCCCCAAGCCACAGTA	0.614											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L53fs	NSCLC(64;1781 1795 22266 42732)|Esophageal Squamous(30;459 829 25326 35148)	.											.	PLA2G1B-91	0			c.159_160insT						.																																			SO:0001589	frameshift_variant	5319	exon2			GCCCCCCAAGCCA		CCDS9195.1	12q24.31	2013-09-19			ENSG00000170890	ENSG00000170890	3.1.1.4		9030	protein-coding gene	gene with protein product		172410		PLA2, PPLA2, PLA2A		8175726	Standard	NM_000928		Approved		uc001tyd.3	P04054	OTTHUMG00000169343	ENST00000308366.4:c.159dupT	12.37:g.120763701_120763701dupA	ENSP00000312286:p.Leu53fs	98	0	1506	129	19	NM_000928	0	0	0	0	0	B2R4H5|Q3KPI1	Frame_Shift_Ins	INS	ENST00000308366.4	37	CCDS9195.1																																																																																			.		0.614	PLA2G1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403626.1		
ATXN1	6310	broad.mit.edu	37	6	16327864	16327865	+	In_Frame_Ins	INS	-	-	TGC			TCGA-OR-A5LP-01A-11D-A29I-10	TCGA-OR-A5LP-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b99240a5-4738-428d-ac47-18daf7a1aae2	d7bbc3ad-5693-4e16-913b-7c102e0882fc	g.chr6:16327864_16327865insTGC	ENST00000244769.4	-	8	1613_1614	c.677_678insGCA	c.(676-678)cac>caGCAc	p.225_226insQ	ATXN1_ENST00000436367.1_In_Frame_Ins_p.225_226insQ	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	225	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTGCTGAGGtgctgctgctg	0.653																																					p.H226delinsQH		.											.	ATXN1-93	0			c.678_679insGCA						.																																			SO:0001652	inframe_insertion	6310	exon7			GCTGAGGTGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.675_677dupGCA	6.37:g.16327871_16327873dupTGC	ENSP00000244769:p.Gln225_Gln225dup	39	0		48	14	NM_001128164	0	0	0	0	0	Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Ins	INS	ENST00000244769.4	37	CCDS34342.1																																																																																			.		0.653	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
