#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_ACHILLES_Lineage_Results_Top_Genes	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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	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_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	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
AKR1C1	1645	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	5008161	5008161	+	Missense_Mutation	SNP	G	G	A	rs1138575		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr10:5008161G>A	ENST00000380872.4	+	2	332	c.140G>A	c.(139-141)cGc>cAc	p.R47H	AKR1C1_ENST00000380859.1_Missense_Mutation_p.R49H|AKR1C1_ENST00000434459.2_Missense_Mutation_p.R47H|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	47					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	GCTGGCTTCCGCCATATTGAT	0.438																																					Colon(130;2054 2316 13360 15380)											0													101.0	91.0	94.0					10																	5008161		2203	4300	6503	SO:0001583	missense	1645			D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"""Aldo-keto reductases"""	384	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"""	600449	"""aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"""	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.140G>A	10.37:g.5008161G>A	ENSP00000370254:p.Arg47His		P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	ENST00000380872.4	37	CCDS7061.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961726	0.34659	.	.	ENSG00000187134	ENST00000434459;ENST00000380872;ENST00000380859	T;T;T	0.28255	1.62;1.62;1.62	2.48	1.52	0.23074	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.313238	0.26571	N	0.023621	T	0.35856	0.0946	M	0.86953	2.85	0.24748	N	0.992995	B;B;B	0.31769	0.339;0.116;0.206	B;B;B	0.32342	0.144;0.07;0.143	T	0.32428	-0.9907	10	0.54805	T	0.06	.	8.1026	0.30865	0.0:0.0:0.7569:0.2431	rs1138575;rs3206812	47;47;47	B4E0M1;Q2XPP3;Q04828	.;.;AK1C1_HUMAN	H	47;47;49	ENSP00000412248:R47H;ENSP00000370254:R47H;ENSP00000370240:R49H	ENSP00000370240:R49H	R	+	2	0	AKR1C1	4998161	1.000000	0.71417	0.050000	0.19076	0.011000	0.07611	5.997000	0.70646	0.340000	0.23745	0.305000	0.20034	CGC		0.438	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353		23	52	23	52
SIGIRR	59307	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	406533	406533	+	Silent	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr11:406533A>G	ENST00000431843.2	-	9	1191	c.885T>C	c.(883-885)ccT>ccC	p.P295P	SIGIRR_ENST00000332725.3_Silent_p.P295P|SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000382520.2_Silent_p.P295P|SIGIRR_ENST00000397632.3_Silent_p.P295P|SIGIRR_ENST00000531205.1_Silent_p.P295P	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	295	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AATCGGAGGAAGGAGTCTGGG	0.652																																																0													27.0	34.0	31.0					11																	406533		2195	4287	6482	SO:0001819	synonymous_variant	59307				CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.885T>C	11.37:g.406533A>G			Q3KQY2|Q6UXI3|Q9H733	Silent	SNP	ENST00000431843.2	37	CCDS31325.1	.	.	.	.	.	.	.	.	.	.	a	10.85	1.467546	0.26335	.	.	ENSG00000185187	ENST00000526395	.	.	.	3.01	0.53	0.17102	.	.	.	.	.	T	0.40448	0.1117	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25710	-1.0124	4	.	.	.	.	0.9135	0.01299	0.4494:0.1552:0.1081:0.2873	.	.	.	.	P	27	.	.	L	-	2	0	SIGIRR	396533	0.000000	0.05858	0.863000	0.33907	0.672000	0.39443	-1.855000	0.01663	0.340000	0.23745	0.402000	0.26972	CTT		0.652	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		38	69	38	69
PGR	5241	hgsc.bcm.edu;ucsc.edu	37	11	100996789	100996789	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr11:100996789C>T	ENST00000325455.5	-	2	3191	c.1738G>A	c.(1738-1740)Ggt>Agt	p.G580S	PGR_ENST00000263463.5_Missense_Mutation_p.G580S|PGR_ENST00000534013.1_5'UTR	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	580					cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GTAAGGACACCATAATGACAG	0.453																																					Pancreas(124;2271 2354 21954 22882)											0													104.0	89.0	94.0					11																	100996789		2203	4300	6503	SO:0001583	missense	5241			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1738G>A	11.37:g.100996789C>T	ENSP00000325120:p.Gly580Ser		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482577	0.96307	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	D;D	0.97480	-4.4;-4.4	5.4	5.4	0.78164	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.98349	0.9452	M	0.74467	2.265	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99501	1.0953	10	0.87932	D	0	.	19.1896	0.93660	0.0:1.0:0.0:0.0	.	580;580	Q8TDS3;P06401	.;PRGR_HUMAN	S	580	ENSP00000325120:G580S;ENSP00000263463:G580S	ENSP00000263463:G580S	G	-	1	0	PGR	100501999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.519000	0.84933	0.655000	0.94253	GGT		0.453	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			11	60	11	60
CD163L1	283316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	7586119	7586119	+	Missense_Mutation	SNP	C	C	T	rs146684411	byFrequency	TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:7586119C>T	ENST00000313599.3	-	3	353	c.296G>A	c.(295-297)cGt>cAt	p.R99H	CD163L1_ENST00000396630.1_Missense_Mutation_p.R99H|CD163L1_ENST00000416109.2_Missense_Mutation_p.R99H			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	99	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R99H(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTGTCCAAAACGAAACATGGC	0.478													C|||	4	0.000798722	0.003	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)						C	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	120.0	95.0	104.0		296	-0.6	0.0	12	dbSNP_134	104	0,8600		0,0,4300	yes	missense	CD163L1	NM_174941.4	29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	99/1454	7586119	4,13002	2203	4300	6503	SO:0001583	missense	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.296G>A	12.37:g.7586119C>T	ENSP00000315945:p.Arg99His		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.330519	0.01298	9.08E-4	0.0	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630;ENST00000543276	T;T;T;T	0.35421	1.31;1.31;1.31;3.48	1.5	-0.628	0.11537	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.179770	0.03610	N	0.234674	T	0.20659	0.0497	N	0.11023	0.085	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17289	-1.0374	10	0.32370	T	0.25	.	6.7663	0.23568	0.0:0.5433:0.0:0.4567	.	99;99	E7EVK4;Q9NR16	.;C163B_HUMAN	H	99;99;99;3	ENSP00000315945:R99H;ENSP00000393474:R99H;ENSP00000379871:R99H;ENSP00000442328:R3H	ENSP00000315945:R99H	R	-	2	0	CD163L1	7477386	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.234000	0.09028	-0.635000	0.05531	-1.478000	0.00992	CGT		0.478	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		14	67	14	67
CLEC9A	283420	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	10205329	10205329	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:10205329C>T	ENST00000355819.1	+	4	656	c.43C>T	c.(43-45)Cca>Tca	p.P15S	CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	15					positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GTGGGATAGCCCAGCACCAGA	0.418																																																0													118.0	109.0	112.0					12																	10205329		2203	4300	6503	SO:0001583	missense	283420				CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.43C>T	12.37:g.10205329C>T	ENSP00000348074:p.Pro15Ser		B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364248	0.24684	.	.	ENSG00000197992	ENST00000355819	T	0.01438	4.89	4.2	3.31	0.37934	.	0.380726	0.19384	N	0.115570	T	0.01353	0.0044	L	0.50333	1.59	0.09310	N	1	P	0.43857	0.819	B	0.35813	0.211	T	0.44651	-0.9314	10	0.11485	T	0.65	.	7.8528	0.29464	0.0:0.8894:0.0:0.1106	.	15	Q6UXN8	CLC9A_HUMAN	S	15	ENSP00000348074:P15S	ENSP00000348074:P15S	P	+	1	0	CLEC9A	10096596	0.001000	0.12720	0.005000	0.12908	0.056000	0.15407	0.454000	0.21827	1.361000	0.45981	0.655000	0.94253	CCA		0.418	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		13	55	13	55
PDZRN4	29951	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	41900316	41900316	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:41900316A>G	ENST00000402685.2	+	4	910	c.902A>G	c.(901-903)aAt>aGt	p.N301S	PDZRN4_ENST00000298919.7_Missense_Mutation_p.N41S|PDZRN4_ENST00000539469.2_Missense_Mutation_p.N43S	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	301	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCTTTTCGCAATGCCAAGGAG	0.473																																																0													127.0	111.0	116.0					12																	41900316		2203	4300	6503	SO:0001583	missense	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.902A>G	12.37:g.41900316A>G	ENSP00000384197:p.Asn301Ser		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	A	11.24	1.581711	0.28180	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.51574	1.76;0.7;1.0	4.98	2.58	0.30949	PDZ/DHR/GLGF (4);	0.072711	0.56097	D	0.000030	T	0.24890	0.0604	N	0.11064	0.09	0.29667	N	0.842732	P;B;B	0.34462	0.454;0.007;0.002	B;B;B	0.34931	0.192;0.004;0.015	T	0.14727	-1.0462	10	0.25751	T	0.34	-21.1266	7.8098	0.29223	0.7813:0.1445:0.0742:0.0	.	301;41;43	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	S	301;43;41	ENSP00000384197:N301S;ENSP00000439990:N43S;ENSP00000298919:N41S	ENSP00000298919:N41S	N	+	2	0	PDZRN4	40186583	0.954000	0.32549	0.994000	0.49952	0.971000	0.66376	2.012000	0.40932	0.443000	0.26582	0.460000	0.39030	AAT		0.473	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		10	49	10	49
PDZRN4	29951	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	41900459	41900459	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:41900459C>G	ENST00000402685.2	+	4	1053	c.1045C>G	c.(1045-1047)Ctt>Gtt	p.L349V	PDZRN4_ENST00000298919.7_Missense_Mutation_p.L89V|PDZRN4_ENST00000539469.2_Missense_Mutation_p.L91V	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	349							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCTGGCCAAGCTTCGTCCACC	0.488																																																0													166.0	139.0	148.0					12																	41900459		2203	4300	6503	SO:0001583	missense	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1045C>G	12.37:g.41900459C>G	ENSP00000384197:p.Leu349Val		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448630	0.63178	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.73789	-0.78;3.73;3.73	5.08	4.18	0.49190	.	1.006310	0.08008	N	0.989902	T	0.80788	0.4690	M	0.72894	2.215	0.53005	D	0.999963	D;P;P	0.56521	0.976;0.94;0.779	P;P;B	0.49922	0.626;0.62;0.381	T	0.75494	-0.3298	10	0.46703	T	0.11	-10.5566	14.0332	0.64629	0.0:0.9262:0.0:0.0738	.	349;89;91	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	V	349;91;89	ENSP00000384197:L349V;ENSP00000439990:L91V;ENSP00000298919:L89V	ENSP00000298919:L89V	L	+	1	0	PDZRN4	40186726	1.000000	0.71417	0.973000	0.42090	0.672000	0.39443	2.043000	0.41231	1.463000	0.47967	0.563000	0.77884	CTT		0.488	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		13	67	13	67
BBS10	79738	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	76741233	76741233	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:76741233A>T	ENST00000393262.3	-	2	615	c.532T>A	c.(532-534)Ttt>Att	p.F178I		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	178					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTTCCACAAAAGTATGCTTCT	0.353									Bardet-Biedl syndrome																																							0													69.0	64.0	66.0					12																	76741233		2203	4300	6503	SO:0001583	missense	79738	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.532T>A	12.37:g.76741233A>T	ENSP00000376946:p.Phe178Ile		Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	A	14.80	2.643880	0.47258	.	.	ENSG00000179941	ENST00000393262	T	0.76060	-0.99	5.13	5.13	0.70059	.	0.135333	0.50627	D	0.000118	T	0.76912	0.4054	M	0.73598	2.24	0.42374	D	0.992464	P	0.37061	0.58	B	0.41723	0.365	T	0.80137	-0.1508	10	0.62326	D	0.03	-16.2082	13.2127	0.59834	1.0:0.0:0.0:0.0	.	178	Q8TAM1	BBS10_HUMAN	I	178	ENSP00000376946:F178I	ENSP00000376946:F178I	F	-	1	0	BBS10	75265364	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.282000	0.58971	2.281000	0.76405	0.528000	0.53228	TTT		0.353	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		9	28	9	28
NAV3	89795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	78444669	78444669	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:78444669C>T	ENST00000397909.2	+	11	2431	c.2258C>T	c.(2257-2259)gCg>gTg	p.A753V	NAV3_ENST00000266692.7_Missense_Mutation_p.A753V|NAV3_ENST00000536525.2_Missense_Mutation_p.A753V|NAV3_ENST00000228327.6_Missense_Mutation_p.A753V|RP11-136F16.1_ENST00000549103.1_RNA			Q8IVL0	NAV3_HUMAN	neuron navigator 3	753						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CGACTTCAGGCGGGAGATGCT	0.572										HNSCC(70;0.22)																																						0													73.0	75.0	74.0					12																	78444669		2012	4173	6185	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2258C>T	12.37:g.78444669C>T	ENSP00000381007:p.Ala753Val		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	C	36	5.719930	0.96839	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.79	5.79	0.91817	.	0.000000	0.39834	U	0.001250	T	0.46328	0.1387	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.97;0.986;0.997	T	0.38672	-0.9650	10	0.87932	D	0	-18.6708	20.031	0.97536	0.0:1.0:0.0:0.0	.	753;753;753	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	V	753	ENSP00000446132:A753V;ENSP00000381007:A753V;ENSP00000228327:A753V;ENSP00000266692:A753V	ENSP00000228327:A753V	A	+	2	0	NAV3	76968800	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.439000	0.80444	2.735000	0.93741	0.655000	0.94253	GCG		0.572	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		24	32	24	32
MGAT4C	25834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	86374058	86374058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:86374058C>T	ENST00000604798.1	-	8	1650	c.446G>A	c.(445-447)cGt>cAt	p.R149H	MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149H			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	149					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.R149H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CATGGCATCACGCCAGGAAGA	0.398																																																1	Substitution - Missense(1)	lung(1)											83.0	81.0	82.0					12																	86374058		2203	4300	6503	SO:0001583	missense	25834				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.446G>A	12.37:g.86374058C>T	ENSP00000474896:p.Arg149His		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111685	0.37242	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.58	2.62	0.31277	.	0.169518	0.52532	D	0.000061	D	0.82568	0.5065	L	0.38175	1.15	0.40016	D	0.975341	D;D	0.57571	0.98;0.965	P;P	0.52109	0.69;0.69	T	0.78196	-0.2298	10	0.14252	T	0.57	-17.5819	14.8367	0.70190	0.3749:0.6251:0.0:0.0	.	178;149	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	H	149;178;149;149;149;149;149	ENSP00000331664:R149H;ENSP00000376900:R178H;ENSP00000449022:R149H;ENSP00000446647:R149H;ENSP00000447253:R149H;ENSP00000449172:R149H	ENSP00000331664:R149H	R	-	2	0	MGAT4C	84898189	1.000000	0.71417	0.998000	0.56505	0.018000	0.09664	6.064000	0.71169	0.683000	0.31428	-0.169000	0.13324	CGT		0.398	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		25	74	25	74
SNURF	8926	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	25213099	25213099	+	Missense_Mutation	SNP	G	G	A	rs142583293		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr15:25213099G>A	ENST00000577949.1	+	3	194	c.131G>A	c.(130-132)cGt>cAt	p.R44H	SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNURF_ENST00000551312.2_Missense_Mutation_p.R44H|SNURF_ENST00000338327.4_Missense_Mutation_p.R44H|SNURF_ENST00000338094.6_Missense_Mutation_p.R44H|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000400100.1_5'UTR			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame	44						nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		TACCCGAGGCGTTCTCAGCAG	0.413																																																0								G	,HIS/ARG,HIS/ARG,,,,	0,4406		0,0,2203	147.0	136.0	140.0		,131,131,,,,	3.5	0.9	15	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	yes	utr-5,missense,missense,utr-5,utr-5,utr-5,utr-5	SNRPN,SNURF	NM_003097.3,NM_005678.3,NM_022804.2,NM_022805.2,NM_022806.2,NM_022807.2,NM_022808.2	,29,29,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign,benign,,,,	,44/72,44/72,,,,	25213099	1,13005	2203	4300	6503	SO:0001583	missense	8926				CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000577949.1:c.131G>A	15.37:g.25213099G>A	ENSP00000463201:p.Arg44His		A6NCW2	Missense_Mutation	SNP	ENST00000577949.1	37	CCDS10016.1	.	.	.	.	.	.	.	.	.	.	G	9.213	1.031454	0.19590	0.0	1.16E-4	ENSG00000214265	ENST00000338094;ENST00000338327	.	.	.	3.52	3.52	0.40303	.	.	.	.	.	T	0.21307	0.0513	.	.	.	0.29077	N	0.88292	D	0.59357	0.985	B	0.37015	0.239	T	0.03335	-1.1047	7	0.25106	T	0.35	-0.8824	10.871	0.46883	0.0:0.0:1.0:0.0	.	44	Q9Y675	SNURF_HUMAN	H	44	.	ENSP00000336543:R44H	R	+	2	0	SNURF	22764192	0.999000	0.42202	0.945000	0.38365	0.555000	0.35460	1.596000	0.36718	2.253000	0.74438	0.655000	0.94253	CGT		0.413	SNURF-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446300.1	NM_005678		37	79	37	79
MAN2C1	4123	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	75655059	75655059	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr15:75655059C>T	ENST00000267978.5	-	7	867	c.821G>A	c.(820-822)aGg>aAg	p.R274K	MAN2C1_ENST00000569482.1_Missense_Mutation_p.R274K|MAN2C1_ENST00000563622.1_Intron|MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000565683.1_Missense_Mutation_p.R274K	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	274					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GGCACATTTCCTCACAGTCTC	0.617																																																0													70.0	71.0	71.0					15																	75655059		2197	4294	6491	SO:0001583	missense	4123			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.821G>A	15.37:g.75655059C>T	ENSP00000267978:p.Arg274Lys		H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	36	5.702769	0.96812	.	.	ENSG00000140400	ENST00000267978	T	0.79940	-1.32	5.45	5.45	0.79879	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.85682	D	0.000000	D	0.90345	0.6979	M	0.84326	2.69	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.988;0.993	D;P;D	0.71414	0.973;0.89;0.949	D	0.91305	0.5070	10	0.66056	D	0.02	-36.489	18.2687	0.90060	0.0:1.0:0.0:0.0	.	56;274;274	B4DVP6;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	K	274	ENSP00000267978:R274K	ENSP00000267978:R274K	R	-	2	0	MAN2C1	73442112	1.000000	0.71417	0.980000	0.43619	0.895000	0.52256	4.595000	0.61048	2.554000	0.86153	0.561000	0.74099	AGG		0.617	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			11	30	11	30
ITGAX	3687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	31391362	31391362	+	Silent	SNP	G	G	A	rs148941060		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr16:31391362G>A	ENST00000268296.4	+	26	3157	c.3036G>A	c.(3034-3036)gcG>gcA	p.A1012A	ITGAX_ENST00000562522.1_Silent_p.A1012A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1012			A -> V (in dbSNP:rs181404376). {ECO:0000269|PubMed:21763482}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACTTCCTGGCGCACATTCAGA	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18532	0.0		0.001	False		,,,				2504	0.0															0								G		1,4393	2.1+/-5.4	0,1,2196	46.0	45.0	45.0		3036	-2.5	0.0	16	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITGAX	NM_000887.3		0,2,6495	AA,AG,GG		0.0116,0.0228,0.0154		1012/1164	31391362	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.3036G>A	16.37:g.31391362G>A			Q8IVA6	Silent	SNP	ENST00000268296.4	37	CCDS10711.1																																																																																				0.547	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		9	45	9	45
PHKB	5257	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	47694709	47694709	+	Silent	SNP	C	C	T	rs17853186		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr16:47694709C>T	ENST00000323584.5	+	22	2199	c.2175C>T	c.(2173-2175)caC>caT	p.H725H	PHKB_ENST00000455779.1_Silent_p.H718H|PHKB_ENST00000299167.8_Silent_p.H725H|PHKB_ENST00000566044.1_Silent_p.H718H	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	725					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AACCCACCCACGAAATTCTTC	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		17450	0.0		0.001	False		,,,				2504	0.0															0													93.0	82.0	86.0					16																	47694709		2201	4299	6500	SO:0001819	synonymous_variant	5257				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2175C>T	16.37:g.47694709C>T			Q8N4T5	Silent	SNP	ENST00000323584.5	37	CCDS10729.1																																																																																				0.478	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			30	77	30	77
MYO15A	51168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	18023395	18023395	+	Silent	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr17:18023395C>T	ENST00000205890.5	+	2	1619	c.1281C>T	c.(1279-1281)caC>caT	p.H427H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	427					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGTATGCCCACGCCATGGATG	0.667																																																0													48.0	55.0	52.0					17																	18023395		2118	4219	6337	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1281C>T	17.37:g.18023395C>T			B4DFC7	Silent	SNP	ENST00000205890.5	37	CCDS42271.1																																																																																				0.667	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		16	64	16	64
STAT3	6774	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	40500443	40500443	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr17:40500443C>T	ENST00000264657.5	-	2	404	c.92G>A	c.(91-93)cGg>cAg	p.R31Q	STAT3_ENST00000404395.3_Missense_Mutation_p.R31Q|STAT3_ENST00000389272.3_Intron|STAT3_ENST00000588969.1_Missense_Mutation_p.R31Q|STAT3_ENST00000585517.1_Missense_Mutation_p.R31Q	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	31					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CAGAAACTGCCGCAGCTCCAT	0.483									Hyperimmunoglobulin E Recurrent Infection Syndrome																																							0													89.0	85.0	86.0					17																	40500443		2203	4300	6503	SO:0001583	missense	6774	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.92G>A	17.37:g.40500443C>T	ENSP00000264657:p.Arg31Gln		A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	C	35	5.488589	0.96323	.	.	ENSG00000168610	ENST00000264657;ENST00000404395	D;D	0.83837	-1.77;-1.77	5.81	4.78	0.61160	STAT transcription factor, protein interaction (4);	0.000000	0.85682	D	0.000000	D	0.91633	0.7356	M	0.85630	2.765	0.51233	D	0.999914	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.75484	0.986;0.979;0.979	D	0.92659	0.6140	10	0.87932	D	0	-2.7021	16.3663	0.83325	0.0:0.8682:0.1318:0.0	.	31;31;31	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	Q	31	ENSP00000264657:R31Q;ENSP00000384943:R31Q	ENSP00000264657:R31Q	R	-	2	0	STAT3	37753969	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	5.913000	0.69957	2.750000	0.94351	0.655000	0.94253	CGG		0.483	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		28	57	28	57
CD209	30835	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	7811372	7811372	+	Missense_Mutation	SNP	G	G	A	rs151250046	byFrequency	TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:7811372G>A	ENST00000315599.7	-	3	174	c.152C>T	c.(151-153)aCg>aTg	p.T51M	CD209_ENST00000593821.1_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.T51M|CD209_ENST00000601951.1_Intron|CD209_ENST00000315591.8_Intron|CD209_ENST00000593660.1_Intron|CD209_ENST00000601256.1_Intron|CD209_ENST00000204801.8_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.T51M|CD209_ENST00000301357.8_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.T51M|CD209_ENST00000394161.5_Missense_Mutation_p.T51M	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	51					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCAAGAGCGTGAAGGAGAG	0.647													G|||	6	0.00119808	0.0	0.0	5008	,	,		16451	0.005		0.0	False		,,,				2504	0.001															0													149.0	123.0	132.0					19																	7811372		2203	4300	6503	SO:0001583	missense	30835			M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.152C>T	19.37:g.7811372G>A	ENSP00000315477:p.Thr51Met		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	CCDS12186.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.635	0.485632	0.12641	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000394173;ENST00000394161;ENST00000540789	T;T;T;T	0.09163	4.05;4.44;4.07;3.01	2.59	-1.82	0.07857	.	.	.	.	.	T	0.06690	0.0171	L	0.47716	1.5	0.09310	N	1	P;P;B;P;P;P	0.40515	0.597;0.645;0.209;0.719;0.597;0.621	B;B;B;B;B;B	0.26614	0.07;0.066;0.049;0.071;0.047;0.034	T	0.25813	-1.0121	9	0.44086	T	0.13	.	5.9449	0.19213	0.495:0.0:0.505:0.0	.	51;51;51;51;51;51	B2R907;Q9NNX6-4;Q9NNX6-2;G5E9C4;Q9NNX6;Q9NNX6-5	.;.;.;.;CD209_HUMAN;.	M	51;51;51;51;31	ENSP00000315477:T51M;ENSP00000346373:T51M;ENSP00000377728:T51M;ENSP00000377716:T51M	ENSP00000315477:T51M	T	-	2	0	CD209	7717372	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.100000	0.03339	-0.302000	0.08869	-0.484000	0.04775	ACG		0.647	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		40	122	40	122
ZNF560	147741	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	9577542	9577542	+	Missense_Mutation	SNP	C	C	T	rs148650284		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:9577542C>T	ENST00000301480.4	-	10	2294	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	694					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R694Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CATGGAATTTCGAAAGGAATT	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		22168	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	lung(1)						C	GLN/ARG	0,4406		0,0,2203	131.0	132.0	132.0		2081	-1.1	0.0	19	dbSNP_134	132	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF560	NM_152476.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	694/791	9577542	2,13004	2203	4300	6503	SO:0001583	missense	147741			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.2081G>A	19.37:g.9577542C>T	ENSP00000301480:p.Arg694Gln		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	CCDS12214.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.467	1.094536	0.20471	0.0	2.33E-4	ENSG00000198028	ENST00000301480	T	0.15718	2.4	1.5	-1.13	0.09775	.	.	.	.	.	T	0.16085	0.0387	L	0.52364	1.645	0.09310	N	1	D	0.64830	0.994	P	0.47102	0.537	T	0.15122	-1.0448	9	0.38643	T	0.18	.	4.0441	0.09764	0.0:0.3478:0.4721:0.1801	.	694	Q96MR9	ZN560_HUMAN	Q	694	ENSP00000301480:R694Q	ENSP00000301480:R694Q	R	-	2	0	ZNF560	9438542	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-6.412000	0.00067	-0.217000	0.10033	0.462000	0.41574	CGA		0.378	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		39	131	39	131
PGLYRP2	114770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	15586704	15586704	+	Silent	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:15586704C>T	ENST00000340880.4	-	2	1257	c.777G>A	c.(775-777)acG>acA	p.T259T	PGLYRP2_ENST00000292609.4_Silent_p.T259T	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	259					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.T259T(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTCCAAAAGCGTAAAGGTCC	0.617																																																2	Substitution - coding silent(2)	prostate(2)											34.0	35.0	35.0					19																	15586704		2203	4300	6503	SO:0001819	synonymous_variant	114770			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.777G>A	19.37:g.15586704C>T			A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	ENST00000340880.4	37	CCDS12330.2																																																																																				0.617	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		16	66	16	66
SIGLEC6	946	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	52034027	52034027	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:52034027C>T	ENST00000425629.3	-	3	768	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.R205Q|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.R205Q|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.R205Q|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.R169Q|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.R194Q	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	205	Ig-like C2-type 1.			RP -> A (in Ref. 5; AAB70702). {ECO:0000305}.	cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTCCTGGGGCCGTGGGGTGAT	0.637																																																0													62.0	68.0	66.0					19																	52034027		2203	4300	6503	SO:0001583	missense	946			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.614G>A	19.37:g.52034027C>T	ENSP00000401502:p.Arg205Gln		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	C	3.009	-0.204264	0.06180	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	3.47	1.18	0.20946	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.34676	N	0.003762	T	0.13798	0.0334	L	0.52011	1.625	0.09310	N	1	B;B;B;B;B;B	0.28208	0.014;0.02;0.053;0.141;0.203;0.096	B;B;B;B;B;B	0.18561	0.004;0.016;0.022;0.021;0.013;0.016	T	0.18777	-1.0326	10	0.23891	T	0.37	.	4.7529	0.13070	0.0:0.6488:0.2227:0.1285	.	205;169;194;205;205;205	F8WA78;C9JBE5;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	Q	194;205;205;205;169;205	ENSP00000401502:R205Q;ENSP00000353071:R205Q;ENSP00000410679:R169Q;ENSP00000345907:R205Q	ENSP00000345907:R205Q	R	-	2	0	SIGLEC6	56725839	0.006000	0.16342	0.090000	0.20809	0.135000	0.20990	-0.180000	0.09754	0.253000	0.21552	-0.379000	0.06801	CGG		0.637	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		40	83	40	83
ZNF845	91664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	53848775	53848775	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:53848775G>A	ENST00000595091.1	+	4	251	c.32G>A	c.(31-33)aGg>aAg	p.R11K	ZNF845_ENST00000458035.1_Missense_Mutation_p.R11K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	11	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTGACATTCAGGGATGTGGCC	0.443																																																0													84.0	80.0	81.0					19																	53848775		692	1591	2283	SO:0001583	missense	91664			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.32G>A	19.37:g.53848775G>A	ENSP00000470005:p.Arg11Lys			Missense_Mutation	SNP	ENST00000595091.1	37	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.939082	0.00484	.	.	ENSG00000213799	ENST00000458035;ENST00000359916;ENST00000427984	T	0.01369	4.97	1.85	-3.69	0.04450	Krueppel-associated box (4);	.	.	.	.	T	0.00875	0.0029	N	0.10916	0.065	0.19945	N	0.999942	B	0.31790	0.34	B	0.31390	0.129	T	0.47381	-0.9122	9	0.33940	T	0.23	.	6.7934	0.23711	0.6068:0.0:0.3932:0.0	.	11	Q96IR2	ZN845_HUMAN	K	11	ENSP00000388311:R11K	ENSP00000352990:R11K	R	+	2	0	ZNF845	58540587	0.003000	0.15002	0.452000	0.26994	0.204000	0.24138	-0.830000	0.04410	-1.139000	0.02881	0.134000	0.15878	AGG		0.443	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		51	120	51	120
LAIR2	3904	hgsc.bcm.edu;broad.mit.edu	37	19	55019286	55019286	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:55019286C>A	ENST00000301202.2	+	3	373	c.251C>A	c.(250-252)gCc>gAc	p.A84D	LAIR2_ENST00000351841.2_Missense_Mutation_p.A84D	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	84	Ig-like C2-type.					extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GAGTCAGAGGCCAGATTCCAC	0.502																																																0													122.0	112.0	115.0					19																	55019286		2203	4300	6503	SO:0001583	missense	3904			AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.251C>A	19.37:g.55019286C>A	ENSP00000301202:p.Ala84Asp		Q6PEZ4	Missense_Mutation	SNP	ENST00000301202.2	37	CCDS12897.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677199	0.47886	.	.	ENSG00000167618	ENST00000412608;ENST00000452094;ENST00000301202;ENST00000351841	T;T;T	0.27402	1.67;2.45;2.58	3.75	-2.89	0.05665	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.231370	0.05988	N	0.645564	T	0.49064	0.1535	M	0.92691	3.335	0.09310	N	1	P;D;P	0.53462	0.79;0.96;0.581	P;P;B	0.52856	0.527;0.711;0.435	T	0.50516	-0.8819	10	0.87932	D	0	.	2.6249	0.04927	0.3535:0.3151:0.0:0.3314	.	78;84;84	C9JFQ0;Q6ISS4-2;Q6ISS4	.;.;LAIR2_HUMAN	D	78;66;84;84	ENSP00000390729:A78D;ENSP00000301202:A84D;ENSP00000301203:A84D	ENSP00000301202:A84D	A	+	2	0	LAIR2	59711098	0.013000	0.17824	0.000000	0.03702	0.011000	0.07611	0.035000	0.13797	-0.249000	0.09569	0.462000	0.41574	GCC		0.502	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			6	106	6	106
ZSCAN18	65982	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	58601354	58601354	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:58601354A>G	ENST00000240727.6	-	2	680	c.281T>C	c.(280-282)cTg>cCg	p.L94P	ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.L150P|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.L94P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	94	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GAACTGCTCCAGCACCAGCAG	0.677																																																0													59.0	60.0	60.0					19																	58601354		2203	4300	6503	SO:0001583	missense	65982			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.281T>C	19.37:g.58601354A>G	ENSP00000240727:p.Leu94Pro		B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207788	0.58343	.	.	ENSG00000121413	ENST00000433686;ENST00000240727	T;T	0.09350	3.39;2.99	3.24	3.24	0.37175	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.26563	N	0.023666	T	0.36358	0.0964	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;0.999;1.0	T	0.29458	-1.0011	10	0.87932	D	0	-6.5456	8.1189	0.30959	1.0:0.0:0.0:0.0	.	150;164;94;94	B4DG23;Q6ZMK6;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	P	150;94	ENSP00000412253:L150P;ENSP00000240727:L94P	ENSP00000240727:L94P	L	-	2	0	ZSCAN18	63293166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.628000	0.54259	1.488000	0.48433	0.459000	0.35465	CTG		0.677	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		33	100	33	100
PLEKHG5	57449	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	6534096	6534096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:6534096G>A	ENST00000400915.3	-	8	802	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R190C|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R190C|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R190C|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R259C|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R269C|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.R267C|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R227C|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.R267C|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R190C|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R190C|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R190C	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	246					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTCCCGGCGGCTCTGGGCG	0.701																																																0													11.0	13.0	13.0					1																	6534096		2196	4286	6482	SO:0001583	missense	57449			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.736C>T	1.37:g.6534096G>A	ENSP00000383706:p.Arg246Cys		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	ENST00000400915.3	37	CCDS41241.1	.	.	.	.	.	.	.	.	.	.	g	19.40	3.820683	0.71028	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.76186	-0.99;-0.76;-0.76;-0.79;-0.93;-0.78;-0.76;-0.79;-0.8;-0.76;-1.0;-0.79	4.07	4.07	0.47477	.	0.337746	0.27189	N	0.020506	T	0.80899	0.4712	L	0.59436	1.845	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;0.982;1.0;0.999	D;D;B;D;P	0.68765	0.927;0.935;0.446;0.96;0.724	T	0.81820	-0.0757	10	0.72032	D	0.01	-32.1426	9.2662	0.37643	0.0:0.0:0.6657:0.3343	.	259;190;267;267;246	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	C	267;190;190;246;267;227;190;190;259;190;96;269;190	ENSP00000366977:R267C;ENSP00000344570:R190C;ENSP00000383704:R190C;ENSP00000383706:R246C;ENSP00000366969:R267C;ENSP00000366961:R227C;ENSP00000366957:R190C;ENSP00000366954:R190C;ENSP00000441445:R259C;ENSP00000366966:R190C;ENSP00000439625:R269C;ENSP00000437710:R190C	ENSP00000344570:R190C	R	-	1	0	PLEKHG5	6456683	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.690000	0.74567	2.103000	0.63969	0.500000	0.49745	CGC		0.701	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		7	25	7	25
IL22RA1	58985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	24463673	24463673	+	Silent	SNP	C	C	T	rs536741554		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:24463673C>T	ENST00000270800.1	-	3	341	c.303G>A	c.(301-303)gcG>gcA	p.A101A		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	101	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ACCGGCCTCCCGCACTGACAG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		17704	0.0		0.0	False		,,,				2504	0.001															0													65.0	59.0	61.0					1																	24463673		2203	4300	6503	SO:0001819	synonymous_variant	58985			AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.303G>A	1.37:g.24463673C>T			A8K839|B2R9Y9|Q9HB22	Silent	SNP	ENST00000270800.1	37	CCDS247.1																																																																																				0.612	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			27	56	27	56
PTAFR	5724	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	28477144	28477144	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:28477144G>A	ENST00000373857.3	-	2	1023	c.389C>T	c.(388-390)aCc>aTc	p.T130I	PTAFR_ENST00000539896.1_Missense_Mutation_p.T130I|PTAFR_ENST00000305392.3_Missense_Mutation_p.T130I	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	130					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ACGCTTGCGGGTGTTGGCCTG	0.557																																																0													108.0	108.0	108.0					1																	28477144		2203	4300	6503	SO:0001583	missense	5724			BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.389C>T	1.37:g.28477144G>A	ENSP00000362965:p.Thr130Ile		A3KMC8|A8K2H5	Missense_Mutation	SNP	ENST00000373857.3	37	CCDS318.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725380	0.48833	.	.	ENSG00000169403	ENST00000373857;ENST00000539896;ENST00000305392	T;T;T	0.45668	0.89;0.89;0.89	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.273625	0.42053	D	0.000768	T	0.53867	0.1823	M	0.79011	2.435	0.34680	D	0.724641	P	0.47034	0.889	P	0.45232	0.474	T	0.69643	-0.5090	10	0.59425	D	0.04	.	19.4334	0.94781	0.0:0.0:1.0:0.0	.	130	P25105	PTAFR_HUMAN	I	130	ENSP00000362965:T130I;ENSP00000442658:T130I;ENSP00000301974:T130I	ENSP00000301974:T130I	T	-	2	0	PTAFR	28349731	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	3.428000	0.52792	2.596000	0.87737	0.563000	0.77884	ACC		0.557	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1	NM_000952		67	89	67	89
OR10R2	343406	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	158449814	158449814	+	Silent	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:158449814A>G	ENST00000368152.1	+	1	147	c.147A>G	c.(145-147)gtA>gtG	p.V49V	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CCCTCTTTGTAGTTTTTCTTT	0.448																																																0													154.0	143.0	147.0					1																	158449814		2203	4300	6503	SO:0001819	synonymous_variant	343406			AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.147A>G	1.37:g.158449814A>G			Q5VWM8|Q6IFS1|Q96R61	Silent	SNP	ENST00000368152.1	37	CCDS30898.1																																																																																				0.448	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		46	44	46	44
FAM129A	116496	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	184764460	184764460	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:184764460C>T	ENST00000367511.3	-	14	2631	c.2438G>A	c.(2437-2439)gGg>gAg	p.G813E	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	813	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGGGAGCTCCCCCTCCATGGG	0.657																																																0													53.0	57.0	56.0					1																	184764460		2203	4300	6503	SO:0001583	missense	116496			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2438G>A	1.37:g.184764460C>T	ENSP00000356481:p.Gly813Glu		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	9.961	1.222941	0.22457	.	.	ENSG00000135842	ENST00000367511	T	0.09350	2.99	5.12	-7.55	0.01327	.	4.104950	0.00166	N	0.000003	T	0.03959	0.0111	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36040	-0.9764	10	0.05351	T	0.99	3.2611	3.244	0.06791	0.1057:0.164:0.42:0.3103	.	813	Q9BZQ8	NIBAN_HUMAN	E	813	ENSP00000356481:G813E	ENSP00000356481:G813E	G	-	2	0	FAM129A	183031083	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-2.072000	0.01377	-1.334000	0.02244	0.313000	0.20887	GGG		0.657	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			31	136	31	136
NFASC	23114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	204946828	204946828	+	Silent	SNP	T	T	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:204946828T>A	ENST00000401399.1	+	16	2050	c.1851T>A	c.(1849-1851)acT>acA	p.T617T	NFASC_ENST00000339876.6_Silent_p.T617T|NFASC_ENST00000367170.4_Silent_p.T617T|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000367171.4_Intron|NFASC_ENST00000367169.4_Silent_p.T617T|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000338515.6_Silent_p.T617T|NFASC_ENST00000338586.6_Silent_p.T617T|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367172.4_Silent_p.T617T|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000404076.1_Intron			O94856	NFASC_HUMAN	neurofascin	617					axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCACTCCAACTAACCGTTTGG	0.547																																																0													63.0	60.0	61.0					1																	204946828		1568	3582	5150	SO:0001819	synonymous_variant	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1851T>A	1.37:g.204946828T>A			B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.458395	0.26248	.	.	ENSG00000163531	ENST00000367173	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	T	0.64394	0.2594	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63457	-0.6633	4	.	.	.	.	12.5423	0.56179	0.0:0.0:0.0:1.0	.	.	.	.	Q	587	.	.	L	+	2	0	NFASC	203213451	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.506000	0.60428	2.000000	0.58554	0.482000	0.46254	CTA		0.547	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		20	31	20	31
CBLN4	140689	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	54578992	54578992	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr20:54578992G>T	ENST00000064571.2	-	1	1536	c.236C>A	c.(235-237)aCc>aAc	p.T79N		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	79	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CTCGTGGTTGGTGCTCCGCAC	0.652																																																0													151.0	155.0	154.0					20																	54578992		2203	4300	6503	SO:0001583	missense	140689			AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.236C>A	20.37:g.54578992G>T	ENSP00000064571:p.Thr79Asn		A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	37	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308661	0.40895	.	.	ENSG00000054803	ENST00000064571	T	0.75367	-0.93	5.4	5.4	0.78164	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.085770	0.85682	N	0.000000	T	0.69869	0.3159	L	0.43646	1.37	0.47584	D	0.999467	B	0.12013	0.005	B	0.17979	0.02	T	0.63161	-0.6699	10	0.30078	T	0.28	-17.7426	19.5463	0.95299	0.0:0.0:1.0:0.0	.	79	Q9NTU7	CBLN4_HUMAN	N	79	ENSP00000064571:T79N	ENSP00000064571:T79N	T	-	2	0	CBLN4	54012399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.658000	0.61497	2.679000	0.91253	0.655000	0.94253	ACC		0.652	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		66	213	66	213
KRTAP10-5	386680	hgsc.bcm.edu;broad.mit.edu	37	21	46000163	46000163	+	Missense_Mutation	SNP	C	C	G	rs201353887		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr21:46000163C>G	ENST00000400372.1	-	1	318	c.293G>C	c.(292-294)tGc>tCc	p.C98S	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	98	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						gggcaggcagcacacaggctt	0.652																																																0													70.0	72.0	71.0					21																	46000163		2201	4294	6495	SO:0001583	missense	386680			AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.293G>C	21.37:g.46000163C>G	ENSP00000383223:p.Cys98Ser		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	c	2.316	-0.356742	0.05138	.	.	ENSG00000241123	ENST00000400372	T	0.00932	5.53	2.96	2.96	0.34315	.	.	.	.	.	T	0.02533	0.0077	M	0.92970	3.365	0.09310	N	1	B	0.29301	0.241	B	0.28916	0.096	T	0.18871	-1.0323	9	0.35671	T	0.21	.	8.0714	0.30691	0.0:0.7476:0.2524:0.0	.	98	P60370	KR105_HUMAN	S	98	ENSP00000383223:C98S	ENSP00000383223:C98S	C	-	2	0	KRTAP10-5	44824591	0.000000	0.05858	0.015000	0.15790	0.005000	0.04900	-0.110000	0.10824	1.650000	0.50662	0.455000	0.32223	TGC		0.652	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			63	97	63	97
ITGB2	3689	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	21	46320364	46320364	+	Silent	SNP	C	C	T	rs201148219		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr21:46320364C>T	ENST00000397850.2	-	8	1220	c.768G>A	c.(766-768)acG>acA	p.T256T	ITGB2_ENST00000397854.3_Silent_p.T199T|ITGB2_ENST00000355153.4_Silent_p.T256T|ITGB2_ENST00000397857.1_Silent_p.T256T|ITGB2_ENST00000397852.1_Silent_p.T256T|ITGB2_ENST00000302347.5_Silent_p.T256T			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	256	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCAGCAGCCGCGTGACGTTGC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		15751	0.0		0.0	False		,,,				2504	0.001															0													57.0	55.0	56.0					21																	46320364		2203	4300	6503	SO:0001819	synonymous_variant	3689			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.768G>A	21.37:g.46320364C>T			B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	CCDS13716.1																																																																																				0.657	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		45	71	45	71
DRC1	92749	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	26644262	26644262	+	Missense_Mutation	SNP	G	G	A	rs200567817	byFrequency	TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr2:26644262G>A	ENST00000288710.2	+	3	424	c.350G>A	c.(349-351)cGt>cAt	p.R117H		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	117					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											GAGATAAAGCGTCAAAGGTAA	0.493													G|||	2	0.000399361	0.0	0.0	5008	,	,		15833	0.002		0.0	False		,,,				2504	0.0															0													74.0	71.0	72.0					2																	26644262		2203	4300	6503	SO:0001583	missense	92749			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.350G>A	2.37:g.26644262G>A	ENSP00000288710:p.Arg117His		A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	CCDS1723.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.70	3.195896	0.58126	.	.	ENSG00000157856	ENST00000288710	T	0.16196	2.36	5.38	5.38	0.77491	.	0.262799	0.35096	N	0.003454	T	0.21145	0.0509	L	0.46157	1.445	0.39684	D	0.970941	P	0.44946	0.846	B	0.42062	0.374	T	0.01920	-1.1247	10	0.62326	D	0.03	-2.3567	17.9566	0.89070	0.0:0.0:1.0:0.0	.	117	Q96MC2	CC164_HUMAN	H	117	ENSP00000288710:R117H	ENSP00000288710:R117H	R	+	2	0	CCDC164	26497766	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	4.275000	0.58927	2.543000	0.85770	0.478000	0.44815	CGT		0.493	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		8	28	8	28
KCNAB1	7881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	155838415	155838415	+	Silent	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:155838415G>T	ENST00000490337.1	+	1	79	c.15G>T	c.(13-15)cgG>cgT	p.R5R	KCNAB1_ENST00000389636.5_Silent_p.R5R	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	5					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGGCAGCCCGGACAGGGGCAG	0.502																																																0													111.0	127.0	122.0					3																	155838415		2203	4300	6503	SO:0001819	synonymous_variant	7881			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.15G>T	3.37:g.155838415G>T			A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Silent	SNP	ENST00000490337.1	37	CCDS3174.1																																																																																				0.502	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		55	130	55	130
ACTRT3	84517	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	169487113	169487113	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:169487113T>C	ENST00000330368.2	-	1	570	c.196A>G	c.(196-198)Atc>Gtc	p.I66V	RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	66						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											AGGTACCTGATGAACAGCGAG	0.701																																																0													13.0	15.0	14.0					3																	169487113		2160	4278	6438	SO:0001583	missense	84517			AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.196A>G	3.37:g.169487113T>C	ENSP00000333037:p.Ile66Val		Q96IS0|Q96NJ0	Missense_Mutation	SNP	ENST00000330368.2	37	CCDS3206.1	.	.	.	.	.	.	.	.	.	.	T	9.641	1.139024	0.21205	.	.	ENSG00000184378	ENST00000330368	D	0.93604	-3.25	4.33	3.16	0.36331	.	0.141736	0.32473	N	0.006048	D	0.87212	0.6121	L	0.33792	1.035	0.27869	N	0.940098	B	0.10296	0.003	B	0.12156	0.007	T	0.79860	-0.1625	10	0.87932	D	0	.	5.9954	0.19491	0.0:0.0907:0.1645:0.7448	.	66	Q9BYD9	ARPM1_HUMAN	V	66	ENSP00000333037:I66V	ENSP00000333037:I66V	I	-	1	0	AC078802.1	170969807	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	1.157000	0.31724	0.802000	0.34089	-0.451000	0.05528	ATC		0.701	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		10	14	10	14
PIK3CA	5290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	178916944	178916944	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:178916944A>G	ENST00000263967.3	+	2	488	c.331A>G	c.(331-333)Aag>Gag	p.K111E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.K111E(13)|p.K111_L113delKIL(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCGTGAAGAAAAGATCCTCAA	0.333		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	15	Substitution - Missense(13)|Deletion - In frame(2)	endometrium(8)|breast(2)|ovary(2)|large_intestine(1)|urinary_tract(1)|lung(1)											83.0	79.0	80.0					3																	178916944		1819	4069	5888	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.331A>G	3.37:g.178916944A>G	ENSP00000263967:p.Lys111Glu		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522008	0.85600	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.76448	0.86;-1.02	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.87022	0.6074	M	0.78637	2.42	0.80722	D	1	D	0.69078	0.997	D	0.65010	0.931	D	0.87742	0.2586	9	.	.	.	-23.7658	15.6301	0.76899	1.0:0.0:0.0:0.0	.	111	P42336	PK3CA_HUMAN	E	111	ENSP00000263967:K111E;ENSP00000417479:K111E	.	K	+	1	0	PIK3CA	180399638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.047000	0.76599	2.089000	0.63090	0.454000	0.30748	AAG		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			17	47	17	47
PIK3CA	5290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	178936094	178936094	+	Missense_Mutation	SNP	C	C	G	rs121913286		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:178936094C>G	ENST00000263967.3	+	10	1793	c.1636C>G	c.(1636-1638)Cag>Gag	p.Q546E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546K(89)|p.Q546E(12)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATCACTGAGCAGGAGAAAGA	0.358		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	101	Substitution - Missense(101)	large_intestine(55)|breast(17)|endometrium(15)|central_nervous_system(3)|lung(3)|ovary(3)|skin(2)|cervix(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)											61.0	61.0	61.0					3																	178936094		1814	4072	5886	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1636C>G	3.37:g.178936094C>G	ENSP00000263967:p.Gln546Glu		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069293	0.55539	.	.	ENSG00000121879	ENST00000263967	T	0.61274	0.12	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.35682	0.0940	N	0.05177	-0.1	0.80722	D	1	P	0.40282	0.711	B	0.38056	0.264	T	0.40478	-0.9561	10	0.02654	T	1	-14.2064	20.0024	0.97423	0.0:1.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	E	546	ENSP00000263967:Q546E	ENSP00000263967:Q546E	Q	+	1	0	PIK3CA	180418788	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.487000	0.81328	2.722000	0.93159	0.467000	0.42956	CAG		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			6	26	6	26
LIMCH1	22998	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	41682066	41682066	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr4:41682066A>G	ENST00000313860.7	+	19	2465	c.2411A>G	c.(2410-2412)gAa>gGa	p.E804G	LIMCH1_ENST00000512820.1_Missense_Mutation_p.E816G|LIMCH1_ENST00000513024.1_Missense_Mutation_p.E657G|LIMCH1_ENST00000503057.1_Missense_Mutation_p.E1188G|LIMCH1_ENST00000512632.1_Missense_Mutation_p.E727G|LIMCH1_ENST00000381753.4_Missense_Mutation_p.E637G|LIMCH1_ENST00000511496.1_Missense_Mutation_p.E644G|LIMCH1_ENST00000509277.1_Missense_Mutation_p.E637G|LIMCH1_ENST00000396595.3_Missense_Mutation_p.E649G|LIMCH1_ENST00000512946.1_Missense_Mutation_p.E804G|LIMCH1_ENST00000508501.1_Missense_Mutation_p.E803G|LIMCH1_ENST00000514096.1_Missense_Mutation_p.E644G	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	804	Glu-rich.				actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GAAGAGTGGGAAAAGGCCCAA	0.448																																																0													143.0	117.0	126.0					4																	41682066		2203	4300	6503	SO:0001583	missense	22998			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.2411A>G	4.37:g.41682066A>G	ENSP00000316891:p.Glu804Gly		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.3|26.3	4.727352|4.727352	0.89390|0.89390	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405|ENST00000508466	T;T;T;T;T;T;T;T;T;T;T;T|.	0.52057|.	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.124994|.	0.52532|.	D|.	0.000075|.	T|T	0.73187|0.73187	0.3555|0.3555	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.999;1.0;1.0;0.999;1.0;1.0;0.995;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D;D;D|.	0.91635|.	0.986;0.999;0.993;0.994;0.999;0.999;0.993;0.999;0.997;0.993;0.997;0.993|.	T|T	0.73754|0.73754	-0.3883|-0.3883	10|5	0.87932|.	D|.	0|.	-22.6823|-22.6823	15.0211|15.0211	0.71632|0.71632	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	644;554;637;727;637;649;1188;657;816;803;804;804|.	E7EPK0;B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0|.	.;.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN|.	G|E	657;803;804;804;727;816;1188;644;1187;644;637;649;637;156|638	ENSP00000425222:E657G;ENSP00000424825:E803G;ENSP00000424645:E804G;ENSP00000316891:E804G;ENSP00000427045:E727G;ENSP00000424437:E816G;ENSP00000425631:E1188G;ENSP00000421242:E644G;ENSP00000426334:E644G;ENSP00000422864:E637G;ENSP00000379840:E649G;ENSP00000371172:E637G|.	ENSP00000316891:E804G|.	E|K	+|+	2|1	0|0	LIMCH1|LIMCH1	41376823|41376823	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.816000|5.816000	0.69222|0.69222	2.084000|2.084000	0.62774|0.62774	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.448	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		9	24	9	24
TLR2	7097	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	154625007	154625007	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr4:154625007G>T	ENST00000260010.6	+	1	2356	c.948G>T	c.(946-948)agG>agT	p.R316S		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	316					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	CAATCCGGAGGCTGCATATTC	0.338																																																0													66.0	70.0	69.0					4																	154625007		2203	4297	6500	SO:0001583	missense	7097			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.948G>T	4.37:g.154625007G>T	ENSP00000260010:p.Arg316Ser		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651082	0.29336	.	.	ENSG00000137462	ENST00000260010	T	0.50277	0.75	6.06	1.18	0.20946	.	0.588758	0.18127	N	0.150863	T	0.29749	0.0743	L	0.38175	1.15	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.20371	-1.0277	10	0.46703	T	0.11	.	1.1408	0.01765	0.2446:0.3056:0.2734:0.1764	.	316	O60603	TLR2_HUMAN	S	316	ENSP00000260010:R316S	ENSP00000260010:R316S	R	+	3	2	TLR2	154844457	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.539000	0.06113	-0.100000	0.12241	0.655000	0.94253	AGG		0.338	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			14	56	14	56
CETN3	1070	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	89701540	89701540	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr5:89701540G>T	ENST00000283122.3	-	3	354	c.230C>A	c.(229-231)gCc>gAc	p.A77D	CETN3_ENST00000522565.1_Missense_Mutation_p.A77D|CETN3_ENST00000522842.1_Missense_Mutation_p.A77D|CETN3_ENST00000522864.1_Missense_Mutation_p.A77D|CETN3_ENST00000522083.1_Missense_Mutation_p.A77D	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	77	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome cycle (GO:0007098)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|photoreceptor connecting cilium (GO:0032391)	calcium ion binding (GO:0005509)			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		TTTCCCTGTGGCTTCTCTGTC	0.343																																																0													101.0	96.0	98.0					5																	89701540		2202	4299	6501	SO:0001583	missense	1070			Y12473	CCDS4066.1, CCDS75274.1	5q14.3	2013-01-10	2010-06-24		ENSG00000153140	ENSG00000153140		"""EF-hand domain containing"""	1868	protein-coding gene	gene with protein product	"""CDC31 yeast homolog"", ""EF-hand superfamily member"""	602907	"""centrin, EF-hand protein, 3 (CDC31 yeast homolog)"""			9256449	Standard	XM_006714521		Approved	CEN3	uc003kjo.3	O15182	OTTHUMG00000131326	ENST00000283122.3:c.230C>A	5.37:g.89701540G>T	ENSP00000283122:p.Ala77Asp		Q53YD2|Q9BS23	Missense_Mutation	SNP	ENST00000283122.3	37	CCDS4066.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132385	0.56828	.	.	ENSG00000153140	ENST00000283122;ENST00000522083;ENST00000522864;ENST00000522565;ENST00000522842	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54	6.03	6.03	0.97812	EF-hand-like domain (1);	0.205316	0.51477	D	0.000094	T	0.51312	0.1667	N	0.02539	-0.55	0.41025	D	0.98511	B	0.02656	0.0	B	0.04013	0.001	T	0.52034	-0.8629	10	0.87932	D	0	.	19.5548	0.95338	0.0:0.0:1.0:0.0	.	77	O15182	CETN3_HUMAN	D	77	ENSP00000283122:A77D;ENSP00000428259:A77D;ENSP00000430361:A77D;ENSP00000430409:A77D;ENSP00000429875:A77D	ENSP00000283122:A77D	A	-	2	0	CETN3	89737296	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.591000	0.61019	2.854000	0.98071	0.655000	0.94253	GCC		0.343	CETN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254097.1	NM_004365		12	28	12	28
KCTD16	57528	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	143586601	143586601	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr5:143586601G>T	ENST00000507359.3	+	2	1415	c.324G>T	c.(322-324)agG>agT	p.R108S	KCTD16_ENST00000512467.1_Missense_Mutation_p.R108S	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	108					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GACTGAAAAGGGAAGCTGAAT	0.468																																																0													53.0	55.0	54.0					5																	143586601		2203	4300	6503	SO:0001583	missense	57528			AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.324G>T	5.37:g.143586601G>T	ENSP00000426548:p.Arg108Ser		Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805756	0.50421	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.43688	0.94;0.94	5.93	1.03	0.20045	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.043568	0.85682	D	0.000000	T	0.38506	0.1043	M	0.68728	2.09	0.42866	D	0.994121	P	0.47484	0.896	B	0.43838	0.433	T	0.15464	-1.0436	10	0.54805	T	0.06	.	5.7148	0.17954	0.3408:0.1255:0.5337:0.0	.	108	Q68DU8	KCD16_HUMAN	S	108	ENSP00000424151:R108S;ENSP00000426548:R108S	ENSP00000426548:R108S	R	+	3	2	KCTD16	143566794	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	1.334000	0.33827	-0.094000	0.12374	0.561000	0.74099	AGG		0.468	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		31	36	31	36
MCHR2	84539	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	100390944	100390944	+	Silent	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr6:100390944G>A	ENST00000281806.2	-	4	782	c.468C>T	c.(466-468)ggC>ggT	p.G156G	MCHR2_ENST00000369212.2_Silent_p.G156G	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGCCCAAAGGCCCAAATTGA	0.468																																																0													153.0	143.0	146.0					6																	100390944		2203	4300	6503	SO:0001819	synonymous_variant	84539			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.468C>T	6.37:g.100390944G>A			B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	ENST00000281806.2	37	CCDS5044.1																																																																																				0.468	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		40	85	40	85
EPB41L2	2037	hgsc.bcm.edu;broad.mit.edu	37	6	131188677	131188677	+	Silent	SNP	T	T	C	rs145251245		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr6:131188677T>C	ENST00000337057.3	-	16	2833	c.2652A>G	c.(2650-2652)tcA>tcG	p.S884S	EPB41L2_ENST00000530481.1_Silent_p.S731S|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000524581.1_Silent_p.S262S|EPB41L2_ENST00000368128.2_Silent_p.S884S|EPB41L2_ENST00000528282.1_Silent_p.S626S|EPB41L2_ENST00000445890.2_Silent_p.S626S|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530757.1_Silent_p.S113S|EPB41L2_ENST00000527411.1_Silent_p.S814S|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Silent_p.S814S|EPB41L2_ENST00000392427.3_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	884	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTGTCCTTTGTGAGGCATCAG	0.408																																																0								T	,,,,	1,4405	2.1+/-5.4	0,1,2202	215.0	190.0	198.0		,,2193,2193,2652	3.6	1.0	6	dbSNP_134	198	0,8600		0,0,4300	no	intron,intron,coding-synonymous,coding-synonymous,coding-synonymous	EPB41L2	NM_001135554.1,NM_001135555.2,NM_001199388.1,NM_001199389.1,NM_001431.3	,,,,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,,,,	,,731/853,731/853,884/1006	131188677	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2037			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2652A>G	6.37:g.131188677T>C			B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	37	CCDS5141.1																																																																																				0.408	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			5	67	5	67
EGFR	1956	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	23	Substitution - Missense(23)	central_nervous_system(23)											178.0	142.0	154.0					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		60	75	60	75
REPIN1	29803	hgsc.bcm.edu;ucsc.edu	37	7	150069850	150069850	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr7:150069850G>T	ENST00000425389.2	+	1	1598	c.1520G>T	c.(1519-1521)cGc>cTc	p.R507L	REPIN1_ENST00000397281.2_Missense_Mutation_p.R507L|REPIN1_ENST00000444957.1_Missense_Mutation_p.R507L|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000540729.1_Missense_Mutation_p.R507L|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000489432.2_Missense_Mutation_p.R564L	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	507					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCGCACCGGCGCATCCACACG	0.677																																																0													45.0	52.0	49.0					7																	150069850		2203	4299	6502	SO:0001583	missense	29803			AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1520G>T	7.37:g.150069850G>T	ENSP00000388287:p.Arg507Leu		C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060499	0.55432	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	3.95	3.95	0.45737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42787	0.1218	L	0.61387	1.9	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.72982	0.979;0.835	T	0.34030	-0.9845	9	0.72032	D	0.01	-27.3034	7.3806	0.26854	0.1168:0.0:0.8832:0.0	.	564;507	C9J3L7;Q9BWE0	.;REPI1_HUMAN	L	507;507;507;564;507	ENSP00000445016:R507L;ENSP00000380451:R507L;ENSP00000407714:R507L;ENSP00000417291:R564L;ENSP00000388287:R507L	ENSP00000380451:R507L	R	+	2	0	REPIN1	149700783	0.969000	0.33509	1.000000	0.80357	0.932000	0.56968	3.736000	0.55052	2.059000	0.61396	0.563000	0.77884	CGC		0.677	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		29	120	29	120
OR13C8	138802	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	107331778	107331778	+	Silent	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr9:107331778G>A	ENST00000335040.1	+	1	330	c.330G>A	c.(328-330)acG>acA	p.T110T		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGGGGGCCACGGAGTGCATGA	0.502																																																0													110.0	100.0	103.0					9																	107331778		2203	4300	6503	SO:0001819	synonymous_variant	138802				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.330G>A	9.37:g.107331778G>A			Q5VVG0|Q96R44	Silent	SNP	ENST00000335040.1	37	CCDS35090.1																																																																																				0.502	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			27	58	27	58
MAGEB16	139604	hgsc.bcm.edu;broad.mit.edu	37	X	35820627	35820627	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chrX:35820627C>T	ENST00000399989.1	+	2	593	c.314C>T	c.(313-315)cCc>cTc	p.P105L	MAGEB16_ENST00000399988.1_Missense_Mutation_p.P105L|MAGEB16_ENST00000399987.1_Missense_Mutation_p.P105L|MAGEB16_ENST00000399992.1_Missense_Mutation_p.P137L|MAGEB16_ENST00000399985.1_Missense_Mutation_p.P105L	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	105										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACATCAGACCCCAGGAATGTG	0.468																																																0													56.0	52.0	53.0					X																	35820627		1954	4158	6112	SO:0001583	missense	139604				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.314C>T	X.37:g.35820627C>T	ENSP00000382871:p.Pro105Leu		A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	C	7.211	0.595523	0.13875	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.01705	4.71;4.68;4.71;4.71;4.71	2.61	0.551	0.17225	.	11.141100	0.00447	N	0.000089	T	0.01765	0.0056	N	0.25201	0.72	0.09310	N	1	B	0.21309	0.054	B	0.23574	0.047	T	0.46261	-0.9204	10	0.25106	T	0.35	.	4.2634	0.10752	0.2654:0.4782:0.2564:0.0	.	105	A2A368	MAGBG_HUMAN	L	105;137;105;105;105	ENSP00000382870:P105L;ENSP00000382874:P137L;ENSP00000382869:P105L;ENSP00000382871:P105L;ENSP00000382867:P105L	ENSP00000382867:P105L	P	+	2	0	MAGEB16	35730548	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.730000	0.04915	0.060000	0.16281	0.521000	0.50471	CCC		0.468	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			10	14	10	14
SLITRK4	139065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	142717376	142717376	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chrX:142717376G>T	ENST00000381779.4	-	2	1774	c.1549C>A	c.(1549-1551)Ctt>Att	p.L517I	SLITRK4_ENST00000356928.1_Missense_Mutation_p.L517I|SLITRK4_ENST00000338017.4_Missense_Mutation_p.L517I	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	517						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGATCAAGGACCCCACTG	0.483																																																0													139.0	139.0	139.0					X																	142717376		2203	4300	6503	SO:0001583	missense	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1549C>A	X.37:g.142717376G>T	ENSP00000371198:p.Leu517Ile		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885127	0.51908	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.54675	0.56;0.56;0.56	5.41	5.41	0.78517	.	0.000000	0.64402	U	0.000001	T	0.68650	0.3024	L	0.52905	1.665	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.71108	-0.4688	10	0.72032	D	0.01	-7.5993	16.9315	0.86191	0.0:0.0:1.0:0.0	.	517	Q8IW52	SLIK4_HUMAN	I	517	ENSP00000371198:L517I;ENSP00000349400:L517I;ENSP00000336627:L517I	ENSP00000336627:L517I	L	-	1	0	SLITRK4	142545042	1.000000	0.71417	0.896000	0.35187	0.946000	0.59487	4.535000	0.60629	2.404000	0.81709	0.600000	0.82982	CTT		0.483	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		68	81	68	81
SOHLH1	402381	broad.mit.edu;ucsc.edu	37	9	138590205	138590205	+	Silent	SNP	G	G	A	rs145506287	byFrequency	TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr9:138590205G>A	ENST00000298466.5	-	3	375	c.315C>T	c.(313-315)agC>agT	p.S105S	SOHLH1_ENST00000425225.1_Silent_p.S105S	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	105					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GCCCCAGGGCGCTGGCAAGCC	0.657													G|||	16	0.00319489	0.0113	0.0014	5008	,	,		14877	0.0		0.0	False		,,,				2504	0.0															0								G	,	32,4372	38.4+/-70.7	0,32,2170	68.0	70.0	70.0		315,315	3.2	0.0	9	dbSNP_134	70	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	SOHLH1	NM_001012415.2,NM_001101677.1	,	0,33,6468	AA,AG,GG		0.0116,0.7266,0.2538	,	105/329,105/388	138590205	33,12969	2202	4299	6501	SO:0001819	synonymous_variant	402381			BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.315C>T	9.37:g.138590205G>A			C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Silent	SNP	ENST00000298466.5	37	CCDS35174.1																																																																																				0.657	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		94	90	94	90
RPS6KA6	27330	broad.mit.edu;ucsc.edu	37	X	83319382	83319382	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chrX:83319382A>G	ENST00000262752.2	-	22	2148	c.2141T>C	c.(2140-2142)cTg>cCg	p.L714P	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.L714P	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	714					axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTTGTGAGTCAGGGCAGAGTA	0.418																																																0													101.0	84.0	89.0					X																	83319382		2203	4300	6503	SO:0001583	missense	27330			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.2141T>C	X.37:g.83319382A>G	ENSP00000262752:p.Leu714Pro		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	A	19.41	3.821899	0.71028	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.71103	-0.54;-0.53	5.11	5.11	0.69529	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.76835	0.4043	L	0.54323	1.7	0.80722	D	1	D;D	0.58268	0.982;0.982	P;P	0.55923	0.708;0.787	T	0.79734	-0.1679	10	0.87932	D	0	.	14.0537	0.64754	1.0:0.0:0.0:0.0	.	714;714	B7ZL90;Q9UK32	.;KS6A6_HUMAN	P	714	ENSP00000262752:L714P;ENSP00000440830:L714P	ENSP00000262752:L714P	L	-	2	0	RPS6KA6	83206038	1.000000	0.71417	0.759000	0.31340	0.953000	0.61014	8.636000	0.91010	1.695000	0.51148	0.486000	0.48141	CTG		0.418	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		7	12	7	12
MIA2	117153	broad.mit.edu;ucsc.edu	37	14	39722040	39722040	+	Silent	SNP	G	G	A	rs199674433		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr14:39722040G>A	ENST00000280082.3	+	5	1855	c.1656G>A	c.(1654-1656)tcG>tcA	p.S552S	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	0					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ATGAAAATTCGAAACCATCAG	0.378													g|||	1	0.000199681	0.0	0.0	5008	,	,		16777	0.001		0.0	False		,,,				2504	0.0															0													88.0	96.0	93.0					14																	39722040		2203	4300	6503	SO:0001819	synonymous_variant	117153			BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.1656G>A	14.37:g.39722040G>A			A1L4H0|Q9H6C1	Silent	SNP	ENST00000280082.3	37	CCDS9672.1																																																																																				0.378	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		8	33	8	33
IFRD2	7866	broad.mit.edu;ucsc.edu	37	3	50327154	50327154	+	Missense_Mutation	SNP	C	C	T	rs587716301		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:50327154C>T	ENST00000429673.2	-	6	777	c.778G>A	c.(778-780)Gct>Act	p.A260T	IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000436390.1_Missense_Mutation_p.A196T|IFRD2_ENST00000336089.4_Missense_Mutation_p.A362T|IFRD2_ENST00000417626.2_Missense_Mutation_p.A196T			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	260						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGATGTCAGCGGCAGCCACG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		21536	0.001		0.0	False		,,,				2504	0.0															0													35.0	44.0	41.0					3																	50327154		2202	4296	6498	SO:0001583	missense	7866			U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.778G>A	3.37:g.50327154C>T	ENSP00000398971:p.Ala260Thr		Q9BVB4|Q9UJ88	Missense_Mutation	SNP	ENST00000429673.2	37	CCDS46831.1	.	.	.	.	.	.	.	.	.	.	C	1.925	-0.447270	0.04572	.	.	ENSG00000214706	ENST00000417626;ENST00000436390;ENST00000336089;ENST00000429673	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.72	1.96	0.26148	Interferon-related developmental regulator, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.289012	0.37955	N	0.001873	T	0.40743	0.1129	L	0.29908	0.895	0.09310	N	1	B;P	0.34724	0.233;0.465	B;B	0.28385	0.029;0.089	T	0.20806	-1.0264	10	0.15499	T	0.54	-3.9816	8.8217	0.35030	0.0:0.6834:0.0:0.3166	.	260;362	Q12894;Q9UJ88	IFRD2_HUMAN;.	T	196;196;362;260	ENSP00000402849:A196T;ENSP00000392316:A196T;ENSP00000336936:A362T;ENSP00000398971:A260T	ENSP00000336936:A362T	A	-	1	0	IFRD2	50302158	0.252000	0.23972	0.002000	0.10522	0.000000	0.00434	1.940000	0.40223	0.083000	0.17047	-0.768000	0.03414	GCT		0.617	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764		4	4	4	4
ABCC10	89845	broad.mit.edu;ucsc.edu	37	6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr6:43403588C>T	ENST00000372530.4	+	5	1923	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	ABCC10_ENST00000244533.3_Missense_Mutation_p.R527W	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GTCCTTGGACCGGATCCAGCT	0.567																																																0													114.0	102.0	106.0					6																	43403588		2203	4300	6503	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1708C>T	6.37:g.43403588C>T	ENSP00000361608:p.Arg570Trp		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392994	0.83011	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.97279	-4.32;-3.98;-3.98	5.3	5.3	0.74995	ABC transporter, transmembrane domain, type 1 (1);	0.072532	0.56097	D	0.000025	D	0.99111	0.9694	H	0.97051	3.93	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99331	1.0909	10	0.87932	D	0	-36.0171	18.9723	0.92719	0.0:1.0:0.0:0.0	.	527;570	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	126;570;527	ENSP00000361593:R126W;ENSP00000361608:R570W;ENSP00000244533:R527W	ENSP00000244533:R527W	R	+	1	2	ABCC10	43511566	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	3.776000	0.55356	2.492000	0.84095	0.462000	0.41574	CGG		0.567	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		24	59	24	59
EMR1	2015	broad.mit.edu;ucsc.edu	37	19	6937659	6937659	+	Splice_Site	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:6937659G>A	ENST00000312053.4	+	20	2692	c.2655G>A	c.(2653-2655)acG>acA	p.T885T	EMR1_ENST00000381407.5_Splice_Site_p.T744T|EMR1_ENST00000450315.3_Splice_Site_p.T708T|EMR1_ENST00000381404.4_Splice_Site_p.T866T|EMR1_ENST00000250572.8_Splice_Site_p.T820T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	885					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTTCCAAGACGGTGAGAGACT	0.582																																																0													123.0	100.0	108.0					19																	6937659		2203	4300	6503	SO:0001630	splice_region_variant	2015			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2655+1G>A	19.37:g.6937659G>A			A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Splice_Site	SNP	ENST00000312053.4	37	CCDS12175.1																																																																																				0.582	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1		Silent	31	72	31	72
UGT2B10	7365	broad.mit.edu;ucsc.edu	37	4	69688108	69688108	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr4:69688108G>T	ENST00000265403.7	+	3	1014	c.987G>T	c.(985-987)aaG>aaT	p.K329N	UGT2B10_ENST00000458688.2_Missense_Mutation_p.K245N	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	329					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CCCTTGCCAAGATCCCACAAA	0.413																																					Melanoma(133;755 1763 25578 26334 46021)											0													130.0	117.0	121.0					4																	69688108		2203	4300	6503	SO:0001583	missense	7365			X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.987G>T	4.37:g.69688108G>T	ENSP00000265403:p.Lys329Asn		A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37		.	.	.	.	.	.	.	.	.	.	g	1.941	-0.443700	0.04604	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.61158	0.13;0.13	2.55	0.643	0.17770	.	0.078138	0.52532	U	0.000067	T	0.44456	0.1294	L	0.48260	1.515	0.22827	N	0.998686	B;B	0.18968	0.032;0.018	B;B	0.16722	0.016;0.009	T	0.39800	-0.9596	10	0.87932	D	0	.	5.4179	0.16384	0.4307:0.0:0.5692:0.0	.	245;329	B4DPP1;P36537	.;UDB10_HUMAN	N	329;245	ENSP00000265403:K329N;ENSP00000413420:K245N	ENSP00000265403:K329N	K	+	3	2	UGT2B10	69722697	0.997000	0.39634	0.769000	0.31535	0.027000	0.11550	2.398000	0.44486	-0.129000	0.11620	0.184000	0.17185	AAG		0.413	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		39	133	39	133
TLN1	7094	broad.mit.edu;hgsc.bcm.edu	37	9	35733420	35733422	+	5'Flank	DEL	GAG	GAG	-	rs200356824		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr9:35733420_35733422delGAG	ENST00000314888.9	-	0	0				TLN1_ENST00000540444.1_5'Flank|CREB3_ENST00000353704.2_In_Frame_Del_p.E126del|CREB3_ENST00000486056.1_3'UTR	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.E125delE(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTGACAGATGAGGAGAAGAGTC	0.493																																																1	Deletion - In frame(1)	large_intestine(1)																																								SO:0001631	upstream_gene_variant	10488			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874		9.37:g.35733423_35733425delGAG	Exception_encountered		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	In_Frame_Del	DEL	ENST00000314888.9	37	CCDS35009.1																																																																																				0.493	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		13	23	13	23
TP53	7157	broad.mit.edu;hgsc.bcm.edu	37	17	7578539	7578555	+	Splice_Site	DEL	TGAGGGCAGGGGAGTAC	TGAGGGCAGGGGAGTAC	-	rs587782160|rs137852792		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr17:7578539_7578555delTGAGGGCAGGGGAGTAC	ENST00000269305.4	-	5	565_580	c.376_391delGTACTCCCCTGCCCTCA	c.(376-393)gtactcccctgccctcaa>aa	p.VLPCPQ126fs	TP53_ENST00000413465.2_Splice_Site_p.VLPCPQ126fs|TP53_ENST00000359597.4_Splice_Site_p.VLPCPQ126fs|TP53_ENST00000455263.2_Splice_Site_p.VLPCPQ126fs|TP53_ENST00000420246.2_Splice_Site_p.VLPCPQ126fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site_p.VLPCPQ126fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	126	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(39)|p.S127F(23)|p.L130F(16)|p.Y126*(14)|p.L130V(11)|p.Y126D(9)|p.S127Y(8)|p.N131del(8)|p.N131Y(8)|p.0?(8)|p.L130R(7)|p.S127C(7)|p.P128S(7)|p.S127T(6)|p.S127P(6)|p.Y126_K132delYSPALNK(6)|p.Y126N(6)|p.P128fs*42(5)|p.L130L(4)|p.Y126C(4)|p.L130H(3)|p.L37F(3)|p.Y126_S127insQPHH(3)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.A129fs*41(3)|p.Y33*(2)|p.L130fs*19(2)|p.S34C(2)|p.N131H(2)|p.N131fs*27(2)|p.N131fs*39(2)|p.Y126S(2)|p.Y126fs*44(2)|p.A129V(2)|p.A129T(2)|p.Y33D(2)|p.L130fs*41(2)|p.Y126fs*11(1)|p.S127S(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.T125_Y126insX(1)|p.Y126Y(1)|p.L130P(1)|p.V73fs*9(1)|p.S127fs*43(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.A129del(1)|p.S34F(1)|p.A36fs*41(1)|p.A129G(1)|p.A129D(1)|p.A36fs*20(1)|p.S34P(1)|p.S127fs*22(1)|p.P13fs*18(1)|p.L130fs*40(1)|p.S127fs*42(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.L130del(1)|p.P128A(1)|p.Y33_S34insQPHH(1)|p.P128del(1)|p.P128P(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGA	0.548		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	280	Substitution - Missense(145)|Unknown(39)|Deletion - Frameshift(26)|Deletion - In frame(24)|Substitution - Nonsense(16)|Whole gene deletion(8)|Insertion - Frameshift(7)|Substitution - coding silent(7)|Insertion - In frame(6)|Complex - frameshift(2)	breast(33)|large_intestine(30)|lung(27)|ovary(25)|upper_aerodigestive_tract(24)|central_nervous_system(20)|haematopoietic_and_lymphoid_tissue(19)|urinary_tract(17)|oesophagus(15)|prostate(13)|pancreas(12)|liver(12)|skin(7)|stomach(6)|bone(5)|NS(4)|biliary_tract(4)|endometrium(2)|adrenal_gland(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	GRCh37	CI004819	TP53	I																																				SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-1GTACTCCCCTGCCCTCA>-	17.37:g.7578539_7578555delTGAGGGCAGGGGAGTAC			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.548	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Frame_Shift_Del	14	23	14	23
