#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_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_Start_position_hg18	i_TranscriptID	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
TUBAL3	79861	broad.mit.edu	37	10	5437414	5437414	+	Missense_Mutation	SNP	C	C	T	rs141364432	byFrequency	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr10:5437414C>T	ENST00000380419.3	-	3	309	c.272G>A	c.(271-273)cGt>cAt	p.R91H	TUBAL3_ENST00000479328.1_Missense_Mutation_p.R51H	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	91					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R91H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GAAGAGTGAACGGTGCTGGCC	0.592																																					p.R91H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G272A	10						.						141.0	139.0	139.0					10																	5437414		2203	4300	6503	5427414	SO:0001583	missense	79861	exon3			AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.272G>A	10.37:g.5437414C>T	ENSP00000369784:p.Arg91His		5427414	NM_024803	B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	37	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432113	0.43122	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	T;T	0.70282	-0.47;-0.47	4.09	-0.239	0.13050	Tubulin/FtsZ, GTPase domain (4);	0.482506	0.17806	N	0.161400	T	0.63153	0.2487	M	0.71296	2.17	0.28721	N	0.903046	B;B	0.13594	0.005;0.008	B;B	0.06405	0.002;0.002	T	0.57940	-0.7724	10	0.66056	D	0.02	.	5.6516	0.17620	0.0:0.5138:0.1356:0.3505	.	51;91	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	H	91;51	ENSP00000369784:R91H;ENSP00000418799:R51H	ENSP00000369784:R91H	R	-	2	0	TUBAL3	5427414	0.311000	0.24536	0.001000	0.08648	0.139000	0.21198	0.944000	0.29043	-0.145000	0.11294	0.563000	0.77884	CGT		0.592	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803	
MYO3A	53904	broad.mit.edu	37	10	26243904	26243904	+	Missense_Mutation	SNP	A	A	C			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr10:26243904A>C	ENST00000265944.5	+	4	436	c.270A>C	c.(268-270)aaA>aaC	p.K90N	MYO3A_ENST00000376301.1_Missense_Mutation_p.K90N|MYO3A_ENST00000543632.1_Missense_Mutation_p.K90N|MYO3A_ENST00000376302.1_Missense_Mutation_p.K90N	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K90N(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGAAGGATAAAGTAAATGGAG	0.373																																					p.K90N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A270C	10						.						151.0	152.0	152.0					10																	26243904		2203	4300	6503	26283910	SO:0001583	missense	53904	exon4			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.270A>C	10.37:g.26243904A>C	ENSP00000265944:p.Lys90Asn		26283910	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	7.899	0.733983	0.15574	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632;ENST00000376301	T;T;T;T	0.78595	-1.19;-0.99;-0.94;0.99	5.78	2.31	0.28768	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.166180	0.52532	D	0.000072	T	0.55705	0.1937	N	0.11560	0.145	0.09310	N	1	P;P;B;B	0.38677	0.589;0.642;0.022;0.0	B;B;B;B	0.40009	0.211;0.316;0.038;0.005	T	0.46512	-0.9186	10	0.24483	T	0.36	.	5.5861	0.17275	0.4859:0.1477:0.3664:0.0	.	90;90;90;90	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	N	90	ENSP00000265944:K90N;ENSP00000365479:K90N;ENSP00000445909:K90N;ENSP00000365478:K90N	ENSP00000265944:K90N	K	+	3	2	MYO3A	26283910	0.135000	0.22499	0.463000	0.27130	0.919000	0.55068	0.322000	0.19576	0.491000	0.27793	0.523000	0.50628	AAA		0.373	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
PTCHD3	374308	broad.mit.edu	37	10	27702350	27702350	+	Missense_Mutation	SNP	G	G	A	rs147881350|rs35726908		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr10:27702350G>A	ENST00000438700.3	-	1	947	c.830C>T	c.(829-831)aCg>aTg	p.T277M		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	277					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.T277M(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAGGTTGAGCGTTTTGTTCAC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		16599	0.0		0.001	False		,,,				2504	0.0				p.T277M												.	.	2	Substitution - Missense(2)	cervix(1)|large_intestine(1)	c.C830T	10						.	G	MET/THR	0,4406		0,0,2203	59.0	65.0	63.0		830	-2.5	0.0	10	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense	PTCHD3	NM_001034842.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	277/768	27702350	1,13005	2203	4300	6503	27742356	SO:0001583	missense	374308	exon1			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.830C>T	10.37:g.27702350G>A	ENSP00000417658:p.Thr277Met		27742356	NM_001034842	I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088868	0.36855	0.0	1.16E-4	ENSG00000182077	ENST00000438700	D	0.85629	-2.01	3.18	-2.5	0.06384	.	.	.	.	.	T	0.80607	0.4655	L	0.34521	1.04	0.09310	N	1	D	0.67145	0.996	P	0.58721	0.844	T	0.68138	-0.5488	9	0.38643	T	0.18	0.775	1.0447	0.01567	0.2493:0.3549:0.1727:0.2231	.	277	Q3KNS1	PTHD3_HUMAN	M	277	ENSP00000417658:T277M	ENSP00000417658:T277M	T	-	2	0	PTCHD3	27742356	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.368000	0.02580	-0.503000	0.06586	0.561000	0.74099	ACG		0.612	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541	
PCDH15	65217	broad.mit.edu	37	10	55582210	55582210	+	Missense_Mutation	SNP	G	G	T	rs397517463		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr10:55582210G>T	ENST00000320301.6	-	33	5670	c.5276C>A	c.(5275-5277)cCt>cAt	p.P1759H	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1719H|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1761H|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1690H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1736H|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1756H|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1759					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.P1759H(1)|p.P1766H(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				aggagcaggaggaggagaagg	0.493										HNSCC(58;0.16)																											p.P1719H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5156A	10						.						14.0	14.0	14.0					10																	55582210		2202	4297	6499	55252216	SO:0001583	missense	65217	exon31			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5276C>A	10.37:g.55582210G>T	ENSP00000322604:p.Pro1759His		55252216	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751239	0.31046	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.60672	0.29;0.27;0.31;0.21;0.2;0.17	4.63	-0.186	0.13272	.	.	.	.	.	T	0.47210	0.1433	N	0.19112	0.55	0.20638	N	0.999873	P;P;P;P;P;P;P;P	0.51653	0.947;0.947;0.947;0.947;0.947;0.947;0.947;0.947	P;P;P;P;P;P;P;P	0.49708	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	T	0.41928	-0.9481	9	0.87932	D	0	.	8.1989	0.31413	0.4278:0.0:0.5722:0.0	.	1736;1759;1761;1766;1690;1719;1756;1759	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	H	1719;1761;1736;1759;1756;1766;1690	ENSP00000378820:P1719H;ENSP00000354950:P1761H;ENSP00000378821:P1736H;ENSP00000322604:P1759H;ENSP00000378818:P1756H;ENSP00000412628:P1690H	ENSP00000322604:P1759H	P	-	2	0	PCDH15	55252216	0.972000	0.33761	0.000000	0.03702	0.009000	0.06853	4.236000	0.58675	-0.009000	0.14296	-0.253000	0.11424	CCT		0.493	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
CDHR1	92211	broad.mit.edu	37	10	85956299	85956299	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr10:85956299G>A	ENST00000372117.3	+	3	293	c.190G>A	c.(190-192)Gga>Aga	p.G64R	CDHR1_ENST00000332904.3_Missense_Mutation_p.G64R	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	64	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.G64R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AGACCCTGAGGGAGACCCCAT	0.502																																					p.G64R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G190A	10						.						140.0	120.0	127.0					10																	85956299		2203	4300	6503	85946279	SO:0001583	missense	92211	exon3			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.190G>A	10.37:g.85956299G>A	ENSP00000361189:p.Gly64Arg		85946279	NM_001171971	Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585415	0.86748	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.51071	0.72;0.72	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.70859	0.3272	M	0.78801	2.425	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.991;0.995	T	0.73783	-0.3874	10	0.72032	D	0.01	-13.5686	18.3121	0.90204	0.0:0.0:1.0:0.0	.	64;64	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	R	64	ENSP00000331063:G64R;ENSP00000361189:G64R	ENSP00000331063:G64R	G	+	1	0	CDHR1	85946279	1.000000	0.71417	0.999000	0.59377	0.699000	0.40488	6.752000	0.74898	2.630000	0.89119	0.561000	0.74099	GGA		0.502	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100	
CYP2C9	1559	broad.mit.edu	37	10	96701686	96701686	+	Silent	SNP	T	T	C	rs200794294		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr10:96701686T>C	ENST00000260682.6	+	2	252	c.240T>C	c.(238-240)taT>taC	p.Y80Y	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	80					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)	p.Y80Y(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGCATGGATATGAAGCAGTGA	0.463																																					p.Y80Y	Ovarian(54;1266 1406 16072 35076)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T240C	10						.						286.0	271.0	276.0					10																	96701686		2203	4300	6503	96691676	SO:0001819	synonymous_variant	1559	exon2			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.240T>C	10.37:g.96701686T>C			96691676	NM_000771	P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Silent	SNP	ENST00000260682.6	37	CCDS7437.1																																																																																				0.463	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771	
CCDC172	374355	broad.mit.edu	37	10	118084588	118084588	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr10:118084588G>A	ENST00000333254.3	+	2	316	c.65G>A	c.(64-66)cGt>cAt	p.R22H	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	22								p.R22H(1)									GAGAGTCGCCGTTTGATGCGA	0.557																																					p.R22H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G65A	10						.						129.0	135.0	133.0					10																	118084588		2203	4300	6503	118074578	SO:0001583	missense	374355	exon2			BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.65G>A	10.37:g.118084588G>A	ENSP00000329860:p.Arg22His		118074578	NM_198515		Missense_Mutation	SNP	ENST00000333254.3	37	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292799	0.40594	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.41	4.51	0.55191	.	0.304896	0.28847	N	0.013958	T	0.46833	0.1413	M	0.72118	2.19	0.27722	N	0.94508	B	0.25169	0.119	B	0.23574	0.047	T	0.50474	-0.8824	9	0.72032	D	0.01	-9.5535	10.2069	0.43118	0.0918:0.0:0.9082:0.0	.	22	P0C7W6	CJ096_HUMAN	H	22	.	ENSP00000329860:R22H	R	+	2	0	C10orf96	118074578	0.914000	0.31030	0.043000	0.18650	0.079000	0.17450	3.570000	0.53834	1.271000	0.44313	0.655000	0.94253	CGT		0.557	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515	
PGR	5241	broad.mit.edu	37	11	100933406	100933406	+	Missense_Mutation	SNP	C	C	T	rs150584881		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr11:100933406C>T	ENST00000325455.5	-	4	3437	c.1984G>A	c.(1984-1986)Gtt>Att	p.V662I	PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Missense_Mutation_p.V68I	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	662					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)	p.V662I(1)		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)	TCATTTGGAACGCCCACTGGC	0.418													T|||	1	0.000199681	0.0008	0.0	5008	,	,		15128	0.0		0.0	False		,,,				2504	0.0				p.V662I	Pancreas(124;2271 2354 21954 22882)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1984A	11						.	T	ILE/VAL,ILE/VAL	1,4405	826.1+/-416.6	0,1,2202	136.0	118.0	124.0		1984,1492	-0.1	0.5	11	dbSNP_134	124	0,8600		0,0,4300	no	missense,missense	PGR	NM_000926.4,NM_001202474.1	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	662/934,498/770	100933406	1,13005	2203	4300	6503	100438616	SO:0001583	missense	5241	exon4			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.1984G>A	11.37:g.100933406C>T	ENSP00000325120:p.Val662Ile		100438616	NM_000926	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	T	0.534	-0.856734	0.02630	2.27E-4	0.0	ENSG00000082175	ENST00000325455;ENST00000534013	D;D	0.86366	-1.67;-2.11	5.41	-0.113	0.13568	Nuclear hormone receptor, ligand-binding (1);	0.567138	0.17572	N	0.169458	T	0.63034	0.2477	N	0.01168	-0.975	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.04013	0.0;0.001	T	0.45644	-0.9247	10	0.12103	T	0.63	.	11.1076	0.48212	0.0:0.1593:0.6508:0.1899	.	662;43	P06401;A7LQ08	PRGR_HUMAN;.	I	662;68	ENSP00000325120:V662I;ENSP00000436561:V68I	ENSP00000325120:V662I	V	-	1	0	PGR	100438616	0.999000	0.42202	0.496000	0.27539	0.659000	0.38960	0.745000	0.26259	-0.285000	0.09089	-1.411000	0.01122	GTT		0.418	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1		
ANGPTL5	253935	broad.mit.edu	37	11	101773407	101773407	+	Missense_Mutation	SNP	T	T	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr11:101773407T>A	ENST00000334289.3	-	6	1080	c.485A>T	c.(484-486)aAa>aTa	p.K162I		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	162	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)		p.K162I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		ACTCGGTGTTTTGGTGACAGA	0.353																																					p.K162I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A485T	11						.						123.0	128.0	126.0					11																	101773407		2203	4299	6502	101278617	SO:0001583	missense	253935	exon6			BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.485A>T	11.37:g.101773407T>A	ENSP00000335255:p.Lys162Ile		101278617	NM_178127	A8K658|Q86VR9	Missense_Mutation	SNP	ENST00000334289.3	37	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.110484	0.77210	.	.	ENSG00000187151	ENST00000334289	T	0.77620	-1.11	5.05	3.89	0.44902	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.82825	0.5121	L	0.56396	1.775	0.50813	D	0.999892	D	0.61080	0.989	D	0.64237	0.923	T	0.80919	-0.1167	10	0.42905	T	0.14	.	10.8455	0.46741	0.0:0.0754:0.0:0.9246	.	162	Q86XS5	ANGL5_HUMAN	I	162	ENSP00000335255:K162I	ENSP00000335255:K162I	K	-	2	0	ANGPTL5	101278617	1.000000	0.71417	0.994000	0.49952	0.875000	0.50365	3.909000	0.56363	0.734000	0.32515	0.482000	0.46254	AAA		0.353	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127	
NAV2	89797	broad.mit.edu	37	11	20066615	20066615	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr11:20066615G>A	ENST00000396087.3	+	15	3469	c.3370G>A	c.(3370-3372)Gaa>Aaa	p.E1124K	NAV2_ENST00000311043.8_Missense_Mutation_p.E187K|NAV2_ENST00000533917.1_Missense_Mutation_p.E187K|NAV2_ENST00000527559.2_Missense_Mutation_p.E1053K|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Missense_Mutation_p.E1037K|NAV2_ENST00000540292.1_Missense_Mutation_p.E1055K|NAV2_ENST00000349880.4_Missense_Mutation_p.E1101K|NAV2_ENST00000396085.1_Missense_Mutation_p.E1101K	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1124					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.E1124K(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CAGTGGTGACGAATCCAAAAA	0.567																																					p.E1037K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3109A	11						.						74.0	65.0	68.0					11																	20066615		2203	4300	6503	20023191	SO:0001583	missense	89797	exon14			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3370G>A	11.37:g.20066615G>A	ENSP00000379396:p.Glu1124Lys		20023191	NM_001111018	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	34	5.395621	0.96009	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000002	T	0.56746	0.2006	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.994;0.992;0.994;0.998;0.996	T	0.51293	-0.8724	9	.	.	.	.	19.9542	0.97213	0.0:0.0:1.0:0.0	.	1124;187;187;1101;1037	Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	NAV2_HUMAN;.;.;.;.	K	1037;1101;1101;1124;1053;1055;187;187;187;187	ENSP00000353871:E1037K;ENSP00000379394:E1101K;ENSP00000309577:E1101K;ENSP00000379396:E1124K;ENSP00000435395:E1053K;ENSP00000443489:E1055K;ENSP00000437316:E187K;ENSP00000437136:E187K;ENSP00000312169:E187K	.	E	+	1	0	NAV2	20023191	1.000000	0.71417	0.978000	0.43139	0.945000	0.59286	9.869000	0.99810	2.728000	0.93425	0.650000	0.86243	GAA		0.567	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
PSMC3	5702	broad.mit.edu	37	11	47446219	47446219	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr11:47446219T>C	ENST00000298852.3	-	4	486	c.329A>G	c.(328-330)aAt>aGt	p.N110S	PSMC3_ENST00000602866.1_Missense_Mutation_p.N94S|PSMC3_ENST00000530912.1_Missense_Mutation_p.N68S	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	110					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.N110S(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CAGGTCAATATTGGCACCATC	0.522																																					p.N110S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A329G	11						.						134.0	110.0	118.0					11																	47446219		2201	4298	6499	47402795	SO:0001583	missense	5702	exon4			M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.329A>G	11.37:g.47446219T>C	ENSP00000298852:p.Asn110Ser		47402795	NM_002804	B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Missense_Mutation	SNP	ENST00000298852.3	37	CCDS7935.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.771819	0.69992	.	.	ENSG00000165916	ENST00000298852;ENST00000530912;ENST00000524447;ENST00000531051;ENST00000530887;ENST00000530651;ENST00000527906;ENST00000526993;ENST00000531653;ENST00000528362	D;D	0.94330	-3.4;-3.35	5.35	5.35	0.76521	.	0.093774	0.64402	D	0.000001	D	0.90868	0.7131	L	0.51853	1.615	0.58432	D	0.999999	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	D	0.87527	0.2450	10	0.42905	T	0.14	-19.8636	15.0127	0.71560	0.0:0.0:0.0:1.0	.	68;110	E9PM69;P17980	.;PRS6A_HUMAN	S	110;68;75;75;75;75;75;118;94;94	ENSP00000298852:N110S;ENSP00000433097:N68S	ENSP00000298852:N110S	N	-	2	0	PSMC3	47402795	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	8.040000	0.89188	2.013000	0.59113	0.459000	0.35465	AAT		0.522	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395660.2	NM_002804	
OR4X1	390113	broad.mit.edu	37	11	48286060	48286060	+	Silent	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr11:48286060C>T	ENST00000320048.1	+	1	648	c.648C>T	c.(646-648)taC>taT	p.Y216Y		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y216Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGGCTTCCTACCTGATCATCC	0.547																																					p.Y216Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C648T	11						.						133.0	108.0	116.0					11																	48286060		2201	4298	6499	48242636	SO:0001819	synonymous_variant	390113	exon1			AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.648C>T	11.37:g.48286060C>T			48242636	NM_001004726	Q6IF74	Silent	SNP	ENST00000320048.1	37	CCDS31487.1																																																																																				0.547	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726	
ATG2A	23130	broad.mit.edu	37	11	64676562	64676562	+	Silent	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr11:64676562C>T	ENST00000377264.3	-	16	2377	c.2265G>A	c.(2263-2265)aaG>aaA	p.K755K	ATG2A_ENST00000421419.2_Silent_p.K755K	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	755					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.K755K(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GTTCCTCTCCCTTCTCCGGGG	0.637																																					p.K755K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2265A	11						.						80.0	56.0	64.0					11																	64676562		2200	4297	6497	64433138	SO:0001819	synonymous_variant	23130	exon16				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.2265G>A	11.37:g.64676562C>T			64433138	NM_015104	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	5.895	0.349297	0.11182	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.77	2.89	0.33648	.	.	.	.	.	T	0.54663	0.1872	.	.	.	0.46521	D	0.999087	.	.	.	.	.	.	T	0.47560	-0.9108	4	.	.	.	.	6.3755	0.21505	0.0:0.6957:0.0:0.3043	.	.	.	.	R	557	.	.	G	-	1	0	ATG2A	64433138	0.973000	0.33851	0.356000	0.25785	0.730000	0.41778	2.357000	0.44125	0.719000	0.32188	0.655000	0.94253	GGG		0.637	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104	
SYTL2	54843	broad.mit.edu	37	11	85435589	85435589	+	Intron	SNP	G	G	A	rs139794100		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr11:85435589G>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000354566.3_Silent_p.F637F|SYTL2_ENST00000359152.5_Silent_p.F1161F|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000525423.1_Silent_p.F637F	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.F637F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTGTCCCCAAGAACCTGGTCT	0.448																																					p.F637F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1911T	11						.	G	,,,,	0,4406		0,0,2203	74.0	74.0	74.0		,,,1911,1911	-0.7	0.0	11	dbSNP_134	74	1,8597	1.2+/-3.3	0,1,4298	no	intron,intron,intron,coding-synonymous,coding-synonymous	SYTL2	NM_001162951.1,NM_001162953.1,NM_032943.3,NM_206927.2,NM_206928.2	,,,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,,,	,,,637/1273,637/1257	85435589	1,13003	2203	4299	6502	85113237	SO:0001627	intron_variant	54843	exon1			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+3349C>T	11.37:g.85435589G>A			85113237	NM_206927	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	CCDS53688.1																																																																																				0.448	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927	
KIRREL3	84623	broad.mit.edu	37	11	126333088	126333088	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr11:126333088C>T	ENST00000525144.2	-	6	955	c.706G>A	c.(706-708)Gga>Aga	p.G236R	KIRREL3_ENST00000525704.2_Missense_Mutation_p.G236R|KIRREL3_ENST00000529097.2_Missense_Mutation_p.G236R	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	236	Ig-like C2-type 2.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G195R(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCCTTTCCTCCGGGGATGGCT	0.627																																					p.G236R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G706A	11						.						104.0	108.0	106.0					11																	126333088		2162	4249	6411	125838298	SO:0001583	missense	84623	exon6			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.706G>A	11.37:g.126333088C>T	ENSP00000435466:p.Gly236Arg		125838298	NM_032531	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630292	0.46944	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	D;D;D	0.86297	-2.1;-2.1;-2.1	5.1	4.18	0.49190	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.294306	0.33346	N	0.005011	D	0.82834	0.5123	L	0.52905	1.665	0.37361	D	0.91123	P;P;P	0.46656	0.882;0.786;0.83	B;B;B	0.43623	0.413;0.425;0.371	T	0.81963	-0.0692	10	0.26408	T	0.33	.	8.6448	0.33998	0.0:0.8369:0.0:0.1631	.	236;236;236	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	R	236	ENSP00000435466:G236R;ENSP00000434081:G236R;ENSP00000435094:G236R	ENSP00000435466:G236R	G	-	1	0	KIRREL3	125838298	0.090000	0.21635	0.772000	0.31596	0.749000	0.42624	1.395000	0.34520	2.380000	0.81148	0.448000	0.29417	GGA		0.627	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531	
RPSAP52	204010	broad.mit.edu	37	12	66152086	66152087	+	RNA	INS	-	-	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr12:66152086_66152087insT	ENST00000489520.2	-	0	856_857					NR_026825.2				ribosomal protein SA pseudogene 52																		AGGAGCTGAAACAGTCCATTTA	0.465																																					.												.	.	0			.	12						.																																			64438354			204010	.					12q14.3	2010-09-24			ENSG00000241749	ENSG00000241749			35752	pseudogene	pseudogene						19123937	Standard	NR_026825		Approved		uc001sso.4		OTTHUMG00000157608		12.37:g.66152086_66152087insT			64438353	.		Frame_Shift_Ins	INS	ENST00000489520.2	37																																																																																					0.465	RPSAP52-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000349256.2	NG_006174	
PRB2	653247	broad.mit.edu	37	12	11546067	11546067	+	Silent	SNP	A	A	G	rs372626172	byFrequency	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr12:11546067A>G	ENST00000389362.4	-	3	980	c.945T>C	c.(943-945)ccT>ccC	p.P315P	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	315	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.P315P(3)|p.P294P(3)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGACCTTGAGGCTGGTTGC	0.607													a|||	32	0.00638978	0.0121	0.0101	5008	,	,		19136	0.002		0.002	False		,,,				2504	0.0051				p.P315P												.	.	6	Substitution - coding silent(6)	large_intestine(4)|prostate(2)	c.T945C	12						.	G		31,4293		1,29,2132	102.0	133.0	122.0		945	-2.6	0.0	12		122	8,8522		0,8,4257	no	coding-synonymous	PRB2	NM_006248.3		1,37,6389	GG,GA,AA		0.0938,0.7169,0.3034		315/417	11546067	39,12815	2162	4265	6427	11437334	SO:0001819	synonymous_variant	653247	exon3			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.945T>C	12.37:g.11546067A>G			11437334	NM_006248	O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	CCDS41757.2																																																																																				0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248	
MLXIP	22877	broad.mit.edu	37	12	122611848	122611848	+	Silent	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr12:122611848G>A	ENST00000319080.7	+	2	591	c.459G>A	c.(457-459)aaG>aaA	p.K153K						MLX interacting protein									p.K153K(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		AGGGCCTGAAGCTACAGTGGA	0.537											OREG0022217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K153K	Esophageal Squamous(105;787 1493 16200 18566 52466)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G459A	12						.						63.0	64.0	64.0					12																	122611848		1985	4199	6184	121177802	SO:0001819	synonymous_variant	22877	exon2			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.459G>A	12.37:g.122611848G>A		1520	121177802	NM_014938		Silent	SNP	ENST00000319080.7	37																																																																																					0.537	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938	
DNM1L	10059	broad.mit.edu	37	12	32871622	32871622	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr12:32871622C>T	ENST00000549701.1	+	7	739	c.665C>T	c.(664-666)gCg>gTg	p.A222V	DNM1L_ENST00000553257.1_Missense_Mutation_p.A235V|DNM1L_ENST00000381000.4_Missense_Mutation_p.A235V|DNM1L_ENST00000358214.5_Missense_Mutation_p.A235V|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000547312.1_Missense_Mutation_p.A222V|DNM1L_ENST00000452533.2_Missense_Mutation_p.A222V|DNM1L_ENST00000266481.6_Missense_Mutation_p.A222V			O00429	DNM1L_HUMAN	dynamin 1-like	222	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.A222V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTCATGGATGCGGGTACTGAT	0.383																																					p.A222V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C665T	12						.						169.0	157.0	161.0					12																	32871622		2203	4300	6503	32762889	SO:0001583	missense	10059	exon7			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.665C>T	12.37:g.32871622C>T	ENSP00000450399:p.Ala222Val		32762889	NM_012062	A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	37	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.042236	0.75732	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000381000;ENST00000548750	D;D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.05	6.05	6.05	0.98169	Dynamin, GTPase domain (1);	0.044194	0.85682	D	0.000000	D	0.93546	0.7940	L	0.59436	1.845	0.80722	D	1	B;B;P;B;B	0.41848	0.391;0.391;0.763;0.391;0.124	B;B;B;B;B	0.32289	0.038;0.057;0.143;0.057;0.035	D	0.93144	0.6544	10	0.49607	T	0.09	.	20.6086	0.99469	0.0:1.0:0.0:0.0	.	275;275;288;275;222	D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;DNM1L_HUMAN	V	222;288;222;235;222;235;222;222;235;193	ENSP00000415131:A222V;ENSP00000449089:A235V;ENSP00000450399:A222V;ENSP00000350948:A235V;ENSP00000266481:A222V;ENSP00000448610:A222V;ENSP00000370388:A235V;ENSP00000447788:A193V	ENSP00000266479:A222V	A	+	2	0	DNM1L	32762889	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.568000	0.82369	2.880000	0.98712	0.655000	0.94253	GCG		0.383	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062	
OR6C68	403284	broad.mit.edu	37	12	55886739	55886739	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr12:55886739T>C	ENST00000548615.1	+	1	578	c.578T>C	c.(577-579)aTt>aCt	p.I193T	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|OR6C68_ENST00000379662.1_Missense_Mutation_p.I198T|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I198T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						ACATCATTAATTGAGCAGATG	0.343																																					p.I198T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T593C	12						.						117.0	107.0	110.0					12																	55886739		2203	4300	6503	54173006	SO:0001583	missense	403284	exon1				CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"""GPCR / Class A : Olfactory receptors"""	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.578T>C	12.37:g.55886739T>C	ENSP00000448811:p.Ile193Thr		54173006	NM_001005519		Missense_Mutation	SNP	ENST00000548615.1	37	CCDS31826.2	.	.	.	.	.	.	.	.	.	.	T	11.69	1.712684	0.30413	.	.	ENSG00000205327	ENST00000379662;ENST00000548615	T;T	0.00069	8.77;8.77	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.358175	0.21088	N	0.080365	T	0.00144	0.0004	L	0.33093	0.98	0.09310	N	1	B	0.33212	0.402	B	0.39738	0.308	T	0.34254	-0.9836	10	0.52906	T	0.07	.	7.2279	0.26026	0.1417:0.0:0.1467:0.7116	.	193	A6NDL8	O6C68_HUMAN	T	198;193	ENSP00000368983:I198T;ENSP00000448811:I193T	ENSP00000368983:I198T	I	+	2	0	OR6C68	54173006	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.004000	0.12878	2.138000	0.66242	0.491000	0.48974	ATT		0.343	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406677.1		
SLC39A5	283375	broad.mit.edu	37	12	56625308	56625308	+	Missense_Mutation	SNP	C	C	T	rs199681035		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr12:56625308C>T	ENST00000266980.4	+	2	543	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	SLC39A5_ENST00000454355.2_Missense_Mutation_p.R84W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	84					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.R83W(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCTGACTGGACGGGCTGCATC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		15430	0.001		0.0	False		,,,				2504	0.0				p.R84W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C250T	12						.	C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	61.0	65.0	64.0		250,250	3.8	0.0	12		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC39A5	NM_001135195.1,NM_173596.2	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	84/541,84/541	56625308	1,13005	2203	4300	6503	54911575	SO:0001583	missense	283375	exon2				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.250C>T	12.37:g.56625308C>T	ENSP00000266980:p.Arg84Trp		54911575	NM_001135195	B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	CCDS8912.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.97	2.394947	0.42512	0.0	1.16E-4	ENSG00000139540	ENST00000424625;ENST00000419753;ENST00000454355;ENST00000417965;ENST00000436633;ENST00000266980;ENST00000437277	T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68	4.78	3.75	0.43078	.	0.419482	0.20430	N	0.092489	T	0.30355	0.0762	L	0.51422	1.61	0.34910	D	0.747389	D	0.65815	0.995	P	0.50231	0.635	T	0.43686	-0.9376	10	0.72032	D	0.01	-0.981	9.0221	0.36206	0.2746:0.7254:0.0:0.0	.	84	Q6ZMH5	S39A5_HUMAN	W	84;84;84;84;55;84;84	ENSP00000404155:R84W;ENSP00000402891:R84W;ENSP00000405360:R84W;ENSP00000414868:R84W;ENSP00000391711:R55W;ENSP00000266980:R84W;ENSP00000407399:R84W	ENSP00000266980:R84W	R	+	1	2	SLC39A5	54911575	0.003000	0.15002	0.013000	0.15412	0.103000	0.19146	0.077000	0.14738	2.373000	0.80994	0.561000	0.74099	CGG		0.652	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596	
GPR182	11318	broad.mit.edu	37	12	57389126	57389126	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr12:57389126G>A	ENST00000300098.1	+	2	352	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	45					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.V45M(1)		endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						TGAGTGCCACGTGGAGCTCAG	0.582																																					p.V45M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G133A	12						.						205.0	180.0	189.0					12																	57389126		2203	4300	6503	55675393	SO:0001583	missense	11318	exon2			Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.133G>A	12.37:g.57389126G>A	ENSP00000300098:p.Val45Met		55675393	NM_007264		Missense_Mutation	SNP	ENST00000300098.1	37	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	G	6.525	0.465044	0.12402	.	.	ENSG00000166856	ENST00000300098	T	0.37584	1.19	4.36	-4.48	0.03515	.	0.800810	0.11074	N	0.602532	T	0.13415	0.0325	N	0.04880	-0.145	0.09310	N	1	B	0.26602	0.154	B	0.16289	0.015	T	0.18935	-1.0321	10	0.27082	T	0.32	.	7.7303	0.28783	0.2786:0.1153:0.6061:0.0	.	45	O15218	GP182_HUMAN	M	45	ENSP00000300098:V45M	ENSP00000300098:V45M	V	+	1	0	GPR182	55675393	0.000000	0.05858	0.015000	0.15790	0.766000	0.43426	-3.265000	0.00534	-1.119000	0.02958	0.561000	0.74099	GTG		0.582	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264	
MPHOSPH9	10198	broad.mit.edu	37	12	123682840	123682840	+	Missense_Mutation	SNP	C	C	T	rs374263250		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr12:123682840C>T	ENST00000606320.1	-	12	2185	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.R630H|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.R508H|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.R508H			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	660						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R508H(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TGTTCTCACGCGACTAGTAGC	0.323																																					p.R508H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1523A	12						.	C	HIS/ARG	0,4406		0,0,2203	57.0	54.0	55.0		1523	1.7	1.0	12		55	1,8595	1.2+/-3.3	0,1,4297	no	missense	MPHOSPH9	NM_022782.2	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	508/1032	123682840	1,13001	2203	4298	6501	122248793	SO:0001583	missense	10198	exon8			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.1979G>A	12.37:g.123682840C>T	ENSP00000475489:p.Arg660His		122248793	NM_022782	A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37		.	.	.	.	.	.	.	.	.	.	C	11.88	1.771432	0.31320	0.0	1.16E-4	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.80123	-1.34;-1.34	5.0	1.67	0.24075	.	0.364684	0.28338	N	0.015712	T	0.72708	0.3494	L	0.55834	1.745	0.35127	D	0.7676	B	0.17465	0.022	B	0.10450	0.005	T	0.70908	-0.4744	10	0.38643	T	0.18	-3.5839	9.1213	0.36788	0.0:0.611:0.0:0.389	.	508	Q99550	MPP9_HUMAN	H	508	ENSP00000303597:R508H;ENSP00000445859:R508H	ENSP00000303597:R508H	R	-	2	0	MPHOSPH9	122248793	0.022000	0.18835	0.972000	0.41901	0.852000	0.48524	-0.131000	0.10482	0.633000	0.30452	-0.448000	0.05591	CGC		0.323	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2		
SPG20	23111	broad.mit.edu	37	13	36886325	36886325	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr13:36886325C>T	ENST00000451493.1	-	8	1907	c.1690G>A	c.(1690-1692)Gtt>Att	p.V564I	SPG20_ENST00000494062.2_Missense_Mutation_p.V564I|SPG20_ENST00000438666.2_Missense_Mutation_p.V564I|SPG20_ENST00000355182.4_Missense_Mutation_p.V564I	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	564					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)	p.V564I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		ACATTGTTAACGATGCATTTA	0.318																																					p.V564I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1690A	13						.						99.0	107.0	105.0					13																	36886325		2203	4300	6503	35784325	SO:0001583	missense	23111	exon8			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1690G>A	13.37:g.36886325C>T	ENSP00000414147:p.Val564Ile		35784325	NM_001142295	O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579232	0.86645	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.88431	-2.38;-2.38;-2.38	5.86	5.86	0.93980	Senescence/spartin-associated (1);	0.254695	0.39615	N	0.001304	D	0.87233	0.6126	N	0.22421	0.69	0.30483	N	0.77217	D;D	0.63880	0.993;0.987	P;P	0.50754	0.649;0.649	T	0.83324	-0.0016	10	0.29301	T	0.29	-22.1881	20.1986	0.98248	0.0:1.0:0.0:0.0	.	564;564	A8K6Q9;Q8N0X7	.;SPG20_HUMAN	I	564	ENSP00000406061:V564I;ENSP00000347314:V564I;ENSP00000414147:V564I	ENSP00000347314:V564I	V	-	1	0	SPG20	35784325	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.671000	0.46842	2.781000	0.95711	0.650000	0.86243	GTT		0.318	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2		
SCEL	8796	broad.mit.edu	37	13	78216850	78216850	+	Missense_Mutation	SNP	T	T	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr13:78216850T>A	ENST00000349847.3	+	32	2041	c.1957T>A	c.(1957-1959)Tgc>Agc	p.C653S	SCEL_ENST00000377246.3_Missense_Mutation_p.C633S|SCEL_ENST00000535157.1_Missense_Mutation_p.C611S	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	653	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.C653S(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GTGTGAAATATGCAAGCAGCC	0.343																																					p.C611S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1831A	13						.						80.0	81.0	81.0					13																	78216850		2202	4298	6500	77114851	SO:0001583	missense	8796	exon30			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1957T>A	13.37:g.78216850T>A	ENSP00000302579:p.Cys653Ser		77114851	NM_001160706	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.395803	0.83011	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	D;D;D	0.83506	-1.73;-1.73;-1.73	5.81	5.81	0.92471	Zinc finger, LIM-type (4);	0.000000	0.64402	D	0.000006	D	0.91784	0.7401	M	0.85373	2.75	0.53005	D	0.999961	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.92976	0.6402	10	0.87932	D	0	-6.8292	15.1388	0.72595	0.0:0.0:0.0:1.0	.	611;633;653	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	S	611;633;653	ENSP00000437895:C611S;ENSP00000366454:C633S;ENSP00000302579:C653S	ENSP00000302579:C653S	C	+	1	0	SCEL	77114851	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.113000	0.71553	2.210000	0.71456	0.533000	0.62120	TGC		0.343	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777	
EDNRB	1910	broad.mit.edu	37	13	78474662	78474662	+	Missense_Mutation	SNP	A	A	C			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr13:78474662A>C	ENST00000334286.5	-	5	1315	c.1079T>G	c.(1078-1080)cTt>cGt	p.L360R	EDNRB_ENST00000377211.4_Missense_Mutation_p.L450R|EDNRB_ENST00000446573.1_Missense_Mutation_p.L360R	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	360					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)	p.L360R(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TTACCTCAAAAGTTCACATCT	0.413																																					p.L360R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1079G	13						.						78.0	81.0	80.0					13																	78474662		2203	4300	6503	77372663	SO:0001583	missense	1910	exon5			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.1079T>G	13.37:g.78474662A>C	ENSP00000335311:p.Leu360Arg		77372663	NM_001122659	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600478	0.87055	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.73681	-0.77;-0.77;-0.77	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.113669	0.64402	D	0.000009	D	0.88955	0.6578	M	0.91406	3.205	0.58432	D	0.999996	D;B;D	0.89917	1.0;0.185;0.999	D;B;D	0.76575	0.978;0.205;0.988	D	0.91272	0.5045	10	0.72032	D	0.01	-8.8774	16.1323	0.81449	1.0:0.0:0.0:0.0	.	360;450;360	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	R	450;360;360	ENSP00000366416:L450R;ENSP00000403401:L360R;ENSP00000335311:L360R	ENSP00000335311:L360R	L	-	2	0	EDNRB	77372663	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.910000	0.92685	2.277000	0.76020	0.528000	0.53228	CTT		0.413	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1		
GPC6	10082	broad.mit.edu	37	13	94958355	94958355	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr13:94958355C>A	ENST00000377047.4	+	6	1745	c.1130C>A	c.(1129-1131)gCa>gAa	p.A377E		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	377					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.A377E(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ACAACTGCTGCAGGCACAAGC	0.488																																					p.A377E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1130A	13						.						74.0	74.0	74.0					13																	94958355		2203	4300	6503	93756356	SO:0001583	missense	10082	exon6			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1130C>A	13.37:g.94958355C>A	ENSP00000366246:p.Ala377Glu		93756356	NM_005708	A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967909	0.92855	.	.	ENSG00000183098	ENST00000377047	T	0.52057	0.68	5.65	5.65	0.86999	.	0.061993	0.64402	D	0.000006	T	0.71048	0.3294	M	0.87758	2.905	0.51767	D	0.999936	D;P	0.69078	0.997;0.925	D;P	0.74348	0.983;0.809	T	0.68465	-0.5401	10	0.09084	T	0.74	.	19.7233	0.96151	0.0:1.0:0.0:0.0	.	377;377	B4E2M1;Q9Y625	.;GPC6_HUMAN	E	377	ENSP00000366246:A377E	ENSP00000366246:A377E	A	+	2	0	GPC6	93756356	1.000000	0.71417	0.994000	0.49952	0.925000	0.55904	7.465000	0.80898	2.653000	0.90120	0.563000	0.77884	GCA		0.488	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708	
NALCN	259232	broad.mit.edu	37	13	101736063	101736063	+	Splice_Site	SNP	C	C	T	rs201831882		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr13:101736063C>T	ENST00000251127.6	-	31	3663	c.3582G>A	c.(3580-3582)ccG>ccA	p.P1194P		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1194					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.P1194P(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTGGGTACCCGGGCGAGGCG	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		16517	0.001		0.0	False		,,,				2504	0.0				p.P1194P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3582A	13						.						57.0	60.0	59.0					13																	101736063		2203	4300	6503	100534064	SO:0001630	splice_region_variant	259232	exon31			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3583+1G>A	13.37:g.101736063C>T			100534064	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	CCDS9498.1																																																																																				0.498	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	Silent
NOVA1	4857	broad.mit.edu	37	14	26949208	26949208	+	Missense_Mutation	SNP	G	G	A	rs142443593		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr14:26949208G>A	ENST00000344429.5	-	3	425	c.422C>T	c.(421-423)aCc>aTc	p.T141I	NOVA1_ENST00000465357.2_Missense_Mutation_p.T141I|NOVA1_ENST00000267422.7_Missense_Mutation_p.T19I|NOVA1_ENST00000547619.1_Missense_Mutation_p.T141I|NOVA1_ENST00000574031.1_Missense_Mutation_p.T141I|NOVA1_ENST00000539517.2_Missense_Mutation_p.T141I	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	144					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T141I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGGATTAACGGTGGTCTGGGG	0.403																																					p.T141I												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C422T	14						.						224.0	189.0	201.0					14																	26949208		2203	4300	6503	26019048	SO:0001583	missense	4857	exon3			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.422C>T	14.37:g.26949208G>A	ENSP00000342387:p.Thr141Ile		26019048	NM_002515	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000344429.5	37	CCDS9635.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932948	0.73442	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476;ENST00000549146;ENST00000549571;ENST00000344429;ENST00000547619	T;T;T;T;T;T;T;T;T	0.62498	0.02;1.43;1.32;1.46;0.02;0.84;0.89;0.8;0.78	5.61	5.61	0.85477	.	0.595355	0.16272	N	0.221747	T	0.66752	0.2821	N	0.17082	0.46	0.58432	D	0.999993	D;B;P;P	0.61697	0.99;0.112;0.608;0.728	D;B;B;B	0.63033	0.91;0.076;0.19;0.349	T	0.67503	-0.5654	10	0.41790	T	0.15	-17.6743	19.6334	0.95719	0.0:0.0:1.0:0.0	.	141;144;141;141	P51513-2;P51513;D3DS81;P51513-4	.;NOVA1_HUMAN;.;.	I	141;141;19;100;19;19;104;141;141	ENSP00000447391:T141I;ENSP00000438875:T141I;ENSP00000267422:T19I;ENSP00000408914:T100I;ENSP00000299472:T19I;ENSP00000449113:T19I;ENSP00000449185:T104I;ENSP00000342387:T141I;ENSP00000448157:T141I	ENSP00000267422:T19I	T	-	2	0	NOVA1	26019048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.629000	0.89072	0.585000	0.79938	ACC		0.403	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491	
PYGL	5836	broad.mit.edu	37	14	51379780	51379780	+	Silent	SNP	A	A	G			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr14:51379780A>G	ENST00000216392.7	-	13	1919	c.1587T>C	c.(1585-1587)gaT>gaC	p.D529D	PYGL_ENST00000544180.2_Silent_p.D495D|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000532462.1_Silent_p.D529D	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	529					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)	p.D529D(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GGAGGAAGACATCATCACCCA	0.483																																					p.D529D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1587C	14						.						95.0	91.0	92.0					14																	51379780		2203	4300	6503	50449530	SO:0001819	synonymous_variant	5836	exon13				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1587T>C	14.37:g.51379780A>G			50449530	NM_002863	A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	CCDS32080.1																																																																																				0.483	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863	
BTBD7	55727	broad.mit.edu	37	14	93709188	93709188	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr14:93709188C>A	ENST00000334746.5	-	11	3137	c.2830G>T	c.(2830-2832)Gat>Tat	p.D944Y	BTBD7_ENST00000554565.1_Missense_Mutation_p.D593Y|BTBD7_ENST00000393170.2_Missense_Mutation_p.D518Y	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	944					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.D944Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TCATAGAAATCCGGATATTCC	0.468																																					p.D944Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2830T	14						.						183.0	174.0	177.0					14																	93709188		2203	4300	6503	92778941	SO:0001583	missense	55727	exon11			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2830G>T	14.37:g.93709188C>A	ENSP00000335615:p.Asp944Tyr		92778941	NM_001002860	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105497	0.77096	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.61742	0.44;0.08	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.68192	0.2974	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.70521	-0.4849	10	0.87932	D	0	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	518;593;944	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	Y	944;593;559;518	ENSP00000335615:D944Y;ENSP00000451010:D593Y	ENSP00000335615:D944Y	D	-	1	0	BTBD7	92778941	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.011000	0.76359	2.804000	0.96469	0.655000	0.94253	GAT		0.468	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860	
GABRB3	2562	broad.mit.edu	37	15	26793228	26793228	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr15:26793228C>T	ENST00000311550.5	-	9	1245	c.1134G>A	c.(1132-1134)atG>atA	p.M378I	GABRB3_ENST00000541819.2_Missense_Mutation_p.M434I|GABRB3_ENST00000299267.4_Missense_Mutation_p.M378I|GABRB3_ENST00000400188.3_Missense_Mutation_p.M307I|GABRB3_ENST00000545868.1_Missense_Mutation_p.M293I	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	378					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.M378I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGACCTCATTCATTTCATTGT	0.458																																					p.M378I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1134A	15						.						135.0	128.0	130.0					15																	26793228		2203	4300	6503	24344321	SO:0001583	missense	2562	exon9				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1134G>A	15.37:g.26793228C>T	ENSP00000308725:p.Met378Ile		24344321	NM_021912	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	6.937	0.542596	0.13250	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	5.72	4.78	0.61160	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.939816	0.09019	N	0.860492	T	0.72977	0.3528	N	0.19112	0.55	0.37010	D	0.895676	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.64360	-0.6426	10	0.17832	T	0.49	.	5.8654	0.18773	0.1434:0.6448:0.1382:0.0736	.	434;378;378	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	I	378;434;378;307;293	ENSP00000308725:M378I;ENSP00000442408:M434I;ENSP00000299267:M378I;ENSP00000383049:M307I;ENSP00000439169:M293I	ENSP00000299267:M378I	M	-	3	0	GABRB3	24344321	1.000000	0.71417	0.999000	0.59377	0.456000	0.32438	1.214000	0.32419	1.373000	0.46208	0.655000	0.94253	ATG		0.458	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		
GABRG3	2567	broad.mit.edu	37	15	27777783	27777783	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr15:27777783C>T	ENST00000333743.6	+	10	1414	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	387					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A387V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCACCAACTGCGATGATCACT	0.433																																					p.A387V	NSCLC(114;800 1656 7410 37729 45293)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1160T	15						.						99.0	99.0	99.0					15																	27777783		1975	4156	6131	25451378	SO:0001583	missense	2567	exon10				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1160C>T	15.37:g.27777783C>T	ENSP00000331912:p.Ala387Val		25451378	NM_033223	G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787801	0.49997	.	.	ENSG00000182256	ENST00000333743	D	0.86164	-2.08	5.85	3.97	0.46021	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.476386	0.21457	N	0.074222	T	0.73385	0.3580	N	0.05487	-0.04	0.80722	D	1	B	0.19200	0.034	B	0.23275	0.045	T	0.63391	-0.6648	10	0.21014	T	0.42	.	11.0218	0.47722	0.0:0.8489:0.0:0.1511	.	387	Q99928	GBRG3_HUMAN	V	387	ENSP00000331912:A387V	ENSP00000331912:A387V	A	+	2	0	GABRG3	25451378	0.822000	0.29219	0.022000	0.16811	0.945000	0.59286	3.025000	0.49681	0.806000	0.34183	0.650000	0.86243	GCG		0.433	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2		
UNC13C	440279	broad.mit.edu	37	15	54305341	54305341	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr15:54305341G>A	ENST00000260323.11	+	1	241	c.241G>A	c.(241-243)Gag>Aag	p.E81K	UNC13C_ENST00000537900.1_Missense_Mutation_p.E81K|UNC13C_ENST00000545554.1_Missense_Mutation_p.E81K	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	81					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.E81K(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGAGGAAGACGAGGCCAGTAA	0.408																																					p.E81K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G241A	15						.						68.0	67.0	67.0					15																	54305341		1890	4105	5995	52092633	SO:0001583	missense	440279	exon1			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.241G>A	15.37:g.54305341G>A	ENSP00000260323:p.Glu81Lys		52092633	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	6.955	0.546046	0.13312	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.80033	-1.33;-1.33;-1.33	5.09	3.21	0.36854	.	.	.	.	.	T	0.64875	0.2638	N	0.24115	0.695	0.32263	N	0.569849	B	0.28605	0.217	B	0.19666	0.026	T	0.64214	-0.6460	9	0.48119	T	0.1	.	6.4394	0.21841	0.1611:0.1635:0.6754:0.0	.	81	Q8NB66	UN13C_HUMAN	K	81	ENSP00000260323:E81K;ENSP00000438156:E81K;ENSP00000442569:E81K	ENSP00000260323:E81K	E	+	1	0	UNC13C	52092633	1.000000	0.71417	0.002000	0.10522	0.002000	0.02628	4.163000	0.58183	0.531000	0.28639	-1.114000	0.02060	GAG		0.408	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
CILP	8483	broad.mit.edu	37	15	65491158	65491158	+	Missense_Mutation	SNP	C	C	T	rs60521346		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr15:65491158C>T	ENST00000261883.4	-	9	1632	c.1466G>A	c.(1465-1467)cGg>cAg	p.R489Q		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	489					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.R489Q(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CACGATGCTCCGAGTTTCCGT	0.597																																					p.R489Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1466A	15						.						69.0	56.0	60.0					15																	65491158		2202	4299	6501	63278211	SO:0001583	missense	8483	exon9			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1466G>A	15.37:g.65491158C>T	ENSP00000261883:p.Arg489Gln		63278211	NM_003613	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369425	0.42003	.	.	ENSG00000138615	ENST00000261883	T	0.37915	1.17	5.95	4.07	0.47477	.	0.149458	0.56097	D	0.000023	T	0.23572	0.0570	L	0.39898	1.24	0.31921	N	0.61348	P	0.50819	0.939	B	0.35859	0.212	T	0.37820	-0.9689	10	0.49607	T	0.09	-20.3618	8.2226	0.31549	0.0:0.7042:0.0:0.2958	rs60521346	489	O75339	CILP1_HUMAN	Q	489	ENSP00000261883:R489Q	ENSP00000261883:R489Q	R	-	2	0	CILP	63278211	1.000000	0.71417	0.879000	0.34478	0.884000	0.51177	2.732000	0.47352	1.530000	0.49136	0.655000	0.94253	CGG		0.597	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613	
WHAMM	123720	broad.mit.edu	37	15	83502218	83502218	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr15:83502218G>A	ENST00000286760.4	+	10	2459	c.2360G>A	c.(2359-2361)aGa>aAa	p.R787K		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	787	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)	p.R761K(1)|p.R787K(1)		endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						GCGCTCCAGAGAATCAAGAGG	0.552																																					p.R787K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2360A	15						.						45.0	47.0	46.0					15																	83502218		2096	4229	6325	81299272	SO:0001583	missense	123720	exon10			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"""WAS protein homology region 2 domain containing 1"""	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.2360G>A	15.37:g.83502218G>A	ENSP00000286760:p.Arg787Lys		81299272	NM_001080435	Q8N1J9	Missense_Mutation	SNP	ENST00000286760.4	37	CCDS45333.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423217	0.83559	.	.	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.31769	1.48	5.57	5.57	0.84162	.	0.045380	0.85682	D	0.000000	T	0.60534	0.2276	M	0.80982	2.52	0.48185	D	0.999605	D	0.89917	1.0	D	0.83275	0.996	T	0.64659	-0.6355	10	0.87932	D	0	.	18.5289	0.90984	0.0:0.0:1.0:0.0	.	787	Q8TF30	WHAMM_HUMAN	K	787;761	ENSP00000286760:R787K	ENSP00000234505:R761K	R	+	2	0	WHAMM	81299272	1.000000	0.71417	0.336000	0.25522	0.356000	0.29392	8.139000	0.89615	2.607000	0.88179	0.557000	0.71058	AGA		0.552	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1		
DECR2	26063	broad.mit.edu	37	16	455023	455023	+	Splice_Site	SNP	C	C	T	rs148802661	byFrequency	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr16:455023C>T	ENST00000219481.5	+	2	286	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	DECR2_ENST00000397710.1_Splice_Site_p.R50W|DECR2_ENST00000424398.2_Splice_Site_p.R50W	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	50					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)	p.R50W(2)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				GATTTTCATGCGGTGAGACTG	0.552																																					p.R50W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C148T	16						.						173.0	160.0	165.0					16																	455023		2202	4300	6502	395024	SO:0001630	splice_region_variant	26063	exon2			AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2754	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 17C, member 1"""	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.149+1C>T	16.37:g.455023C>T			395024	NM_020664	Q6ZRS7|Q96ET0	Missense_Mutation	SNP	ENST00000219481.5	37	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554311	0.65425	.	.	ENSG00000242612	ENST00000219481;ENST00000397710;ENST00000424398	T;T	0.45276	0.9;0.9	4.45	-4.35	0.03656	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.63165	0.2488	M	0.84948	2.725	0.40360	D	0.979231	D	0.89917	1.0	D	0.91635	0.999	T	0.73990	-0.3808	10	0.87932	D	0	.	16.0003	0.80288	0.8107:0.1893:0.0:0.0	.	50	Q9NUI1	DECR2_HUMAN	W	50	ENSP00000219481:R50W;ENSP00000400374:R50W	ENSP00000219481:R50W	R	+	1	2	DECR2	395024	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	1.733000	0.38156	-0.241000	0.09681	-0.274000	0.10170	CGG		0.552	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664	Missense_Mutation
HS3ST4	9951	broad.mit.edu	37	16	26147536	26147536	+	Missense_Mutation	SNP	T	T	G			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr16:26147536T>G	ENST00000331351.5	+	2	1730	c.1338T>G	c.(1336-1338)gaT>gaG	p.D446E		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	446					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.D446E(1)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CTGGTCAAGATTTTCAGTGGG	0.463																																					p.D446E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1338G	16						.						51.0	45.0	47.0					16																	26147536		1568	3582	5150	26055037	SO:0001583	missense	9951	exon2			AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.1338T>G	16.37:g.26147536T>G	ENSP00000330606:p.Asp446Glu		26055037	NM_006040	Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.850743	0.51270	.	.	ENSG00000182601	ENST00000331351	T	0.56776	0.44	5.56	-1.08	0.09936	.	0.070672	0.53938	U	0.000051	T	0.53642	0.1809	M	0.80746	2.51	0.32063	N	0.595442	D	0.53312	0.959	P	0.48901	0.594	T	0.59440	-0.7454	10	0.54805	T	0.06	.	5.1022	0.14766	0.1261:0.3238:0.0:0.5501	.	446	Q9Y661	HS3S4_HUMAN	E	446	ENSP00000330606:D446E	ENSP00000330606:D446E	D	+	3	2	HS3ST4	26055037	1.000000	0.71417	0.964000	0.40570	0.935000	0.57460	1.161000	0.31773	-0.502000	0.06596	-0.408000	0.06270	GAT		0.463	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040	
MYO1D	4642	broad.mit.edu	37	17	30980960	30980960	+	Silent	SNP	T	T	C			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr17:30980960T>C	ENST00000318217.5	-	19	2800	c.2496A>G	c.(2494-2496)ccA>ccG	p.P832P	RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000394649.4_Silent_p.P744P|MYO1D_ENST00000579584.1_Silent_p.P832P	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	832	Myosin tail. {ECO:0000255}.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.P832P(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GAGGTGTATCTGGCTTCTGAA	0.393																																					p.P832P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2496G	17						.						87.0	72.0	77.0					17																	30980960		2203	4300	6503	28005073	SO:0001819	synonymous_variant	4642	exon19			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2496A>G	17.37:g.30980960T>C			28005073	NM_015194	A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	37	CCDS32615.1																																																																																				0.393	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1		
SLFN13	146857	broad.mit.edu	37	17	33768952	33768952	+	Missense_Mutation	SNP	T	T	A	rs376606358		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr17:33768952T>A	ENST00000285013.6	-	5	1827	c.1552A>T	c.(1552-1554)Agt>Tgt	p.S518C	SLFN13_ENST00000534689.1_Missense_Mutation_p.S200C|SLFN13_ENST00000526861.1_Missense_Mutation_p.S518C|SLFN13_ENST00000533791.1_Missense_Mutation_p.S518C|SLFN13_ENST00000360502.2_Missense_Mutation_p.S200C|SLFN13_ENST00000542635.1_Missense_Mutation_p.S518C	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	518						intracellular (GO:0005622)	ATP binding (GO:0005524)	p.S518C(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTCTCAGGACTCAGGCAGAGG	0.592																																					p.S518C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1552T	17						.						20.0	18.0	18.0					17																	33768952		2201	4272	6473	30793065	SO:0001583	missense	146857	exon5			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1552A>T	17.37:g.33768952T>A	ENSP00000285013:p.Ser518Cys		30793065	NM_144682	E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	g	12.88	2.069529	0.36470	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	T;T;T;T;T	0.03801	4.38;3.8;4.38;4.38;3.8	3.05	0.536	0.17138	.	0.648009	0.14373	N	0.323632	T	0.11281	0.0275	L	0.57536	1.79	0.23101	N	0.998298	D;D	0.67145	0.996;0.983	P;B	0.58970	0.849;0.431	T	0.11941	-1.0567	10	0.51188	T	0.08	.	7.1635	0.25677	0.0:0.0:0.4626:0.5374	.	200;518	Q68D06-2;Q68D06	.;SLN13_HUMAN	C	518;200;518;518;200	ENSP00000285013:S518C;ENSP00000353692:S200C;ENSP00000434439:S518C;ENSP00000444016:S518C;ENSP00000435442:S200C	ENSP00000285013:S518C	S	-	1	0	SLFN13	30793065	0.000000	0.05858	0.257000	0.24404	0.044000	0.14063	-1.086000	0.03386	-0.034000	0.13713	-1.241000	0.01538	AGT		0.592	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682	
TBC1D3G	654341	broad.mit.edu	37	17	34803389	34803389	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr17:34803389G>A	ENST00000341264.6	-	7	586	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	TBC1D3H_ENST00000400684.4_Intron|TBC1D3H_ENST00000535446.1_Intron|TBC1D3G_ENST00000394453.1_Missense_Mutation_p.R144C|TBC1D3G_ENST00000330458.7_Missense_Mutation_p.R144C|TBC1D3G_ENST00000535592.1_Missense_Mutation_p.R144C|TBC1D3G_ENST00000535805.1_Missense_Mutation_p.R64C|TBC1D3G_ENST00000592614.1_Missense_Mutation_p.R144C	NM_001040282.2	NP_001035372.2	Q6DHY5	TBC3G_HUMAN	TBC1 domain family, member 3G	144	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)	p.R144C(1)		large_intestine(1)	1		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGGTCGATGCGCTGGATGTGC	0.542																																					p.R144C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C430T	17						.						48.0	1.0	36.0					17																	34803389		6	2	8	31877502	SO:0001583	missense	414060	exon7					17q12	2014-04-11			ENSG00000161583	ENSG00000260287			29860	protein-coding gene	gene with protein product						16863688	Standard			Approved			Q6DHY5	OTTHUMG00000132711	ENST00000341264.6:c.430C>T	17.37:g.34803389G>A	ENSP00000345014:p.Arg144Cys		31877502	NM_001001418	A8K8H9	Missense_Mutation	SNP	ENST00000341264.6	37	CCDS32629.1	.	.	.	.	.	.	.	.	.	.	.	12.91	2.078773	0.36662	.	.	ENSG00000161583	ENST00000330458;ENST00000535805;ENST00000535592;ENST00000394453;ENST00000341264	T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74	.	.	.	Rab-GAP/TBC domain (8);	0.312106	0.30869	U	0.008702	T	0.12774	0.0310	L	0.42245	1.32	0.32118	N	0.588355	D;P;P	0.55385	0.971;0.868;0.868	P;P;P	0.46975	0.471;0.533;0.533	T	0.15321	-1.0441	9	0.59425	D	0.04	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	64;144;144	F5GWQ9;Q6DHY5;Q6IPX1	.;TBC3G_HUMAN;TBC3C_HUMAN	C	144;64;144;144;144	ENSP00000332729:R144C;ENSP00000441318:R64C;ENSP00000438443:R144C;ENSP00000377966:R144C;ENSP00000345014:R144C	ENSP00000332729:R144C	R	-	1	0	TBC1D3G	31877502	1.000000	0.71417	0.005000	0.12908	0.005000	0.04900	5.447000	0.66606	0.119000	0.18210	0.121000	0.15741	CGC		0.542	TBC1D3G-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256010.2	NM_001040282	
MARCH10	162333	broad.mit.edu	37	17	60814313	60814313	+	Missense_Mutation	SNP	G	G	A	rs144887128	byFrequency	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr17:60814313G>A	ENST00000311269.5	-	6	1190	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C	RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.R306C|MARCH10_ENST00000583600.1_Missense_Mutation_p.R344C|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000544856.2_Missense_Mutation_p.R305C|RP11-156L14.1_ENST00000579201.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	306					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R306C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAGGGTGAGCGCACACCAACC	0.423													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20194	0.0		0.0	False		,,,				2504	0.0				p.R306C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C916T	17						.	G	CYS/ARG,CYS/ARG	8,4398	14.3+/-33.2	0,8,2195	248.0	248.0	248.0		916,916	3.3	0.2	17	dbSNP_134	248	0,8600		0,0,4300	yes	missense,missense	MARCH10	NM_001100875.1,NM_152598.2	180,180	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	probably-damaging,probably-damaging	306/809,306/809	60814313	8,12998	2203	4300	6503	58168045	SO:0001583	missense	162333	exon6			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.916C>T	17.37:g.60814313G>A	ENSP00000311496:p.Arg306Cys		58168045	NM_001100875	D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	G	8.751	0.921392	0.17982	0.001816	0.0	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.32023	1.47;1.47;1.47	5.23	3.26	0.37387	.	1.135060	0.06446	N	0.726887	T	0.23688	0.0573	L	0.29908	0.895	0.09310	N	1	P;P;P	0.49696	0.88;0.927;0.912	B;B;B	0.39152	0.153;0.292;0.17	T	0.19451	-1.0305	10	0.72032	D	0.01	0.4362	8.1226	0.30980	0.184:0.0:0.816:0.0	.	305;305;306	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	C	306;306;305	ENSP00000416177:R306C;ENSP00000311496:R306C;ENSP00000443746:R305C	ENSP00000311496:R306C	R	-	1	0	MARCH10	58168045	0.787000	0.28750	0.176000	0.23000	0.002000	0.02628	0.981000	0.29526	0.619000	0.30197	-0.215000	0.12644	CGC		0.423	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598	
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)																											p.R248W	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,haematopoietic_and_lymphoid_tissue,lymph_node,Substitution - Missense,+1 	.	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	c.C742T	17	GRCh37	CM010465|CM900211	TP53	M	rs121912651	.						151.0	112.0	125.0					17																	7577539		2203	4300	6503	7518264	SO:0001583	missense	7157	exon7	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		7518264	NM_001126114	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	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
SEC14L1	6397	broad.mit.edu	37	17	75190823	75190823	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr17:75190823G>A	ENST00000413679.2	+	7	842	c.539G>A	c.(538-540)cGt>cAt	p.R180H	SEC14L1_ENST00000431431.2_Missense_Mutation_p.R146H|SEC14L1_ENST00000591437.1_Missense_Mutation_p.R146H|SEC14L1_ENST00000392476.2_Missense_Mutation_p.R180H|SEC14L1_ENST00000436233.4_Missense_Mutation_p.R180H|SEC14L1_ENST00000585618.1_Missense_Mutation_p.R180H|SEC14L1_ENST00000443798.4_Missense_Mutation_p.R180H|SEC14L1_ENST00000430767.4_Missense_Mutation_p.R180H	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	180					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TTTGTGCCCCGTTGGAGTCCG	0.458																																					p.R180H												.	.	0			c.G539A	17						.						118.0	109.0	112.0					17																	75190823		2203	4300	6503	72702418	SO:0001583	missense	6397	exon7			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.539G>A	17.37:g.75190823G>A	ENSP00000394716:p.Arg180His		72702418	NM_001039573	A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294244	0.95546	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.72615	-0.58;-0.58;-0.57;-0.57;-0.57;-0.67	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.81823	0.4904	M	0.68317	2.08	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.64237	0.923;0.84	D	0.83770	0.0219	10	0.62326	D	0.03	-29.0832	17.3582	0.87342	0.0:0.0:1.0:0.0	.	180;180	Q92503-2;Q92503	.;S14L1_HUMAN	H	180;180;180;180;180;146	ENSP00000376268:R180H;ENSP00000406030:R180H;ENSP00000390392:R180H;ENSP00000408169:R180H;ENSP00000394716:R180H;ENSP00000389838:R146H	ENSP00000376268:R180H	R	+	2	0	SEC14L1	72702418	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.293000	0.96082	2.322000	0.78497	0.655000	0.94253	CGT		0.458	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003	
CCDC137	339230	broad.mit.edu	37	17	79639683	79639683	+	Silent	SNP	C	C	T	rs377260728		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr17:79639683C>T	ENST00000329214.8	+	6	1222	c.819C>T	c.(817-819)caC>caT	p.H273H		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	273							poly(A) RNA binding (GO:0044822)	p.H273H(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AGCAGCTGCACGGGGAGCGAC	0.687																																					p.H273H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C819T	17						.	T		1,4023		0,1,2011	12.0	17.0	15.0		819	1.5	0.0	17		15	0,8340		0,0,4170	no	coding-synonymous	CCDC137	NM_199287.2		0,1,6181	TT,TC,CC		0.0,0.0249,0.0081		273/290	79639683	1,12363	2012	4170	6182	77250088	SO:0001819	synonymous_variant	339230	exon6			BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298			33451	protein-coding gene	gene with protein product		614271					Standard	NM_199287		Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.819C>T	17.37:g.79639683C>T			77250088	NM_199287		Silent	SNP	ENST00000329214.8	37	CCDS42400.1																																																																																				0.687	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440387.1		
TCEB3B	51224	broad.mit.edu	37	18	44559501	44559501	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr18:44559501G>A	ENST00000332567.4	-	1	2487	c.2135C>T	c.(2134-2136)cCc>cTc	p.P712L	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	712					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P712L(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCTCAGGCAGGGGTTGGCCCG	0.662																																					p.P712L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2135T	18						.						37.0	42.0	40.0					18																	44559501		2202	4300	6502	42813499	SO:0001583	missense	51224	exon1			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.2135C>T	18.37:g.44559501G>A	ENSP00000331302:p.Pro712Leu		42813499	NM_016427	Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	5.882	0.346853	0.11126	.	.	ENSG00000206181	ENST00000332567	T	0.07327	3.2	2.07	-4.15	0.03881	.	200.734000	0.00397	U	0.000042	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	B	0.31931	0.347	B	0.28305	0.088	T	0.26224	-1.0109	10	0.20046	T	0.44	.	6.1394	0.20251	0.0:0.2558:0.5105:0.2338	.	712	Q8IYF1	ELOA2_HUMAN	L	712	ENSP00000331302:P712L	ENSP00000331302:P712L	P	-	2	0	TCEB3B	42813499	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.255000	0.08769	-1.832000	0.01196	-0.867000	0.03001	CCC		0.662	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427	
CPAMD8	27151	broad.mit.edu	37	19	17104237	17104237	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr19:17104237C>T	ENST00000443236.1	-	12	1427	c.1396G>A	c.(1396-1398)Gtg>Atg	p.V466M	CPAMD8_ENST00000388925.4_Missense_Mutation_p.V419M	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	419						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V466M(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCCAGCCACACGTGCTGGGCT	0.587																																					p.V466M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1396A	19						.						44.0	43.0	44.0					19																	17104237		1962	4147	6109	16965237	SO:0001583	missense	27151	exon12			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1396G>A	19.37:g.17104237C>T	ENSP00000402505:p.Val466Met		16965237	NM_015692	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830328	0.50845	.	.	ENSG00000160111	ENST00000291440;ENST00000388925	T;T	0.58060	0.36;0.41	2.86	2.86	0.33363	.	0.000000	0.64402	D	0.000017	T	0.47432	0.1445	M	0.78223	2.4	0.42144	D	0.991523	P	0.45078	0.85	B	0.31016	0.123	T	0.60692	-0.7213	10	0.46703	T	0.11	.	13.9911	0.64367	0.0:1.0:0.0:0.0	.	419	Q8IZJ3	CPMD8_HUMAN	M	466;419	ENSP00000291440:V466M;ENSP00000373577:V419M	ENSP00000291440:V466M	V	-	1	0	CPAMD8	16965237	1.000000	0.71417	0.897000	0.35233	0.977000	0.68977	4.714000	0.61902	1.330000	0.45394	0.655000	0.94253	GTG		0.587	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
ZNF570	148268	broad.mit.edu	37	19	37975417	37975417	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr19:37975417G>A	ENST00000330173.1	+	5	1422	c.893G>A	c.(892-894)gGa>gAa	p.G298E	ZNF570_ENST00000388801.3_Missense_Mutation_p.G95E|ZNF570_ENST00000586475.1_Missense_Mutation_p.G354E	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	298					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.G298E(1)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTCATACTGGAGAAAAACCT	0.433																																					p.G298E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G893A	19						.						79.0	74.0	76.0					19																	37975417		2203	4300	6503	42667257	SO:0001583	missense	148268	exon5			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.893G>A	19.37:g.37975417G>A	ENSP00000331540:p.Gly298Glu		42667257	NM_144694	A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070080	0.76301	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	T;T	0.25749	1.78;1.78	4.18	4.18	0.49190	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.376195	0.19593	N	0.110570	T	0.48786	0.1519	M	0.64630	1.985	0.50039	D	0.999847	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.51004	-0.8760	10	0.66056	D	0.02	.	15.7734	0.78190	0.0:0.0:1.0:0.0	.	95;298	B4DMP1;Q96NI8	.;ZN570_HUMAN	E	298;95	ENSP00000331540:G298E;ENSP00000373453:G95E	ENSP00000331540:G298E	G	+	2	0	ZNF570	42667257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.373000	0.79623	2.317000	0.78254	0.563000	0.77884	GGA		0.433	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694	
PSG9	5678	broad.mit.edu	37	19	43762546	43762546	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr19:43762546C>T	ENST00000270077.3	-	5	1147	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	PSG9_ENST00000418820.2_Missense_Mutation_p.D258N|PSG9_ENST00000596730.1_Missense_Mutation_p.D165N|PSG9_ENST00000593948.1_Missense_Mutation_p.D258N|PSG9_ENST00000443718.3_Missense_Mutation_p.D258N|PSG9_ENST00000244293.7_Missense_Mutation_p.D258N|PSG9_ENST00000291752.5_Missense_Mutation_p.D165N	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	351	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.D351N(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CAGGACAAGTCGAGGTTTTCT	0.448																																					p.D351N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1051A	19						.						138.0	167.0	158.0					19																	43762546		2139	4278	6417	48454386	SO:0001583	missense	5678	exon5			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.1051G>A	19.37:g.43762546C>T	ENSP00000270077:p.Asp351Asn		48454386	NM_002784	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	0.001	-2.891457	0.00060	.	.	ENSG00000183668	ENST00000270077;ENST00000291752;ENST00000443718;ENST00000435220;ENST00000244293	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	1.58	-3.16	0.05217	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.04861	0.0131	N	0.05199	-0.095	0.09310	N	1	B;B;B;B;B;D	0.52996	0.104;0.016;0.005;0.007;0.325;0.957	B;B;B;B;B;P	0.51297	0.037;0.015;0.007;0.0;0.166;0.665	T	0.04840	-1.0923	9	0.08381	T	0.77	.	0.1467	0.00089	0.2318:0.1756:0.2357:0.3569	.	258;207;258;165;351;351	E7EW65;Q15225;Q15227;G3XAA7;Q6LEU7;Q00887	.;.;.;.;.;PSG9_HUMAN	N	351;165;258;312;258	ENSP00000270077:D351N;ENSP00000291752:D165N;ENSP00000396753:D258N;ENSP00000244293:D258N	ENSP00000244293:D258N	D	-	1	0	PSG9	48454386	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.449000	0.02392	-2.349000	0.00618	-2.724000	0.00131	GAC		0.448	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784	
FUT1	2523	broad.mit.edu	37	19	49253900	49253900	+	Silent	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr19:49253900G>A	ENST00000310160.3	-	4	1613	c.639C>T	c.(637-639)acC>acT	p.T213T	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	213					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)	p.T213T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CGCCGACAAAGGTGCGCGGGC	0.677																																					p.T213T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C639T	19						.						72.0	74.0	73.0					19																	49253900		2203	4299	6502	53945712	SO:0001819	synonymous_variant	2523	exon4				CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.639C>T	19.37:g.49253900G>A			53945712	NM_000148	O14505|O14506|O14507	Silent	SNP	ENST00000310160.3	37	CCDS12733.1																																																																																				0.677	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148	
ZNF649	65251	broad.mit.edu	37	19	52403358	52403358	+	Start_Codon_SNP	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr19:52403358C>T	ENST00000354957.3	-	2	287	c.3G>A	c.(1-3)atG>atA	p.M1I	ZNF649_ENST00000600738.1_Start_Codon_SNP_p.M1I|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	1					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M1I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GGGCCTTTGTCATTTTCTTCT	0.373																																					p.M1I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3A	19						.						113.0	109.0	110.0					19																	52403358		2203	4300	6503	57095170	SO:0001582	initiator_codon_variant	65251	exon2			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.3G>A	19.37:g.52403358C>T	ENSP00000347043:p.Met1Ile		57095170	NM_023074	A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	9.094	1.002556	0.19121	.	.	ENSG00000198093	ENST00000354957	T	0.06528	3.29	2.07	2.07	0.26955	Krueppel-associated box (1);	.	.	.	.	T	0.17066	0.0410	.	.	.	0.80722	D	1	P	0.51653	0.947	D	0.65140	0.932	T	0.01045	-1.1470	8	0.51188	T	0.08	.	7.6783	0.28499	0.0:1.0:0.0:0.0	.	1	Q9BS31	ZN649_HUMAN	I	1	ENSP00000347043:M1I	ENSP00000347043:M1I	M	-	3	0	ZNF649	57095170	0.974000	0.33945	0.785000	0.31869	0.295000	0.27426	2.928000	0.48908	1.480000	0.48289	0.411000	0.27672	ATG		0.373	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074	Missense_Mutation
ZNF559	84527	broad.mit.edu	37	19	9452459	9452459	+	Missense_Mutation	SNP	G	G	C			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr19:9452459G>C	ENST00000393883.2	+	6	980	c.332G>C	c.(331-333)aGa>aCa	p.R111T	ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000585352.1_3'UTR|ZNF559_ENST00000592504.1_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.R111T|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.R31T|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.R175T	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	111					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.R111T(1)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ACTCACAGGAGAACTTACTTT	0.378																																					p.R111T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G332C	19						.						56.0	60.0	58.0					19																	9452459		2202	4299	6501	9313459	SO:0001583	missense	84527	exon6			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.332G>C	19.37:g.9452459G>C	ENSP00000377461:p.Arg111Thr		9313459	NM_032497	K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	G	9.150	1.016063	0.19355	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.18657	2.2;2.2	2.1	-3.72	0.04411	.	.	.	.	.	T	0.23532	0.0569	M	0.87180	2.865	0.09310	N	1	B;B;B	0.34103	0.437;0.126;0.035	B;B;B	0.32864	0.154;0.04;0.004	T	0.22977	-1.0201	9	0.62326	D	0.03	.	3.8891	0.09111	0.5664:0.0:0.2478:0.1858	.	111;111;31	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	T	111;31;111	ENSP00000442832:R31T;ENSP00000377461:R111T	ENSP00000325393:R111T	R	+	2	0	ZNF559	9313459	0.000000	0.05858	0.000000	0.03702	0.144000	0.21451	-0.772000	0.04694	-0.840000	0.04206	-0.379000	0.06801	AGA		0.378	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497	
ZNF808	388558	broad.mit.edu	37	19	53058187	53058187	+	Missense_Mutation	SNP	A	A	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr19:53058187A>T	ENST00000359798.4	+	5	2198	c.2018A>T	c.(2017-2019)cAt>cTt	p.H673L		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	673					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CGTAGACTTCATGGTGGAGAG	0.398																																					p.H673L												.	.	0			c.A2018T	19						.						134.0	139.0	137.0					19																	53058187		2203	4300	6503	57749999	SO:0001583	missense	388558	exon5			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2018A>T	19.37:g.53058187A>T	ENSP00000352846:p.His673Leu		57749999	NM_001039886	Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	9.872	1.199342	0.22121	.	.	ENSG00000198482	ENST00000359798	T	0.67345	-0.26	1.38	1.38	0.22167	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84719	0.5534	H	0.97051	3.93	0.09310	N	1	D	0.67145	0.996	D	0.68943	0.961	T	0.72097	-0.4393	9	0.62326	D	0.03	.	7.6591	0.28392	1.0:0.0:0.0:0.0	.	673	Q8N4W9	ZN808_HUMAN	L	673	ENSP00000352846:H673L	ENSP00000352846:H673L	H	+	2	0	ZNF808	57749999	0.574000	0.26684	0.005000	0.12908	0.046000	0.14306	4.120000	0.57897	0.612000	0.30071	0.254000	0.18369	CAT		0.398	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886	
ARHGEF10L	55160	broad.mit.edu	37	1	17952454	17952454	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr1:17952454C>T	ENST00000361221.3	+	14	1480	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.R402W|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.R219W|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.R199W|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.R402W|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.R441W	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	441	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R441W(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCACCAGCGACGGCAGGTGTG	0.617																																					p.R441W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1321T	1						.						117.0	99.0	105.0					1																	17952454		2203	4300	6503	17825041	SO:0001583	missense	55160	exon14			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1321C>T	1.37:g.17952454C>T	ENSP00000355060:p.Arg441Trp		17825041	NM_018125	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	CCDS182.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926355	0.73327	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.02	5.02	0.67125	Dbl homology (DH) domain (5);	0.084638	0.52532	D	0.000063	T	0.46946	0.1419	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.77004	0.981;0.978;0.988;0.967;0.968;0.981;0.989	T	0.44003	-0.9356	10	0.72032	D	0.01	-29.9129	12.0483	0.53493	0.1727:0.8273:0.0:0.0	.	219;199;441;207;402;402;441	Q5VXI4;B4DTE2;Q9HCE6-5;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	W	441;402;441;402;199;219;219	ENSP00000355060:R441W;ENSP00000399401:R402W;ENSP00000394621:R441W;ENSP00000364564:R402W;ENSP00000364569:R199W;ENSP00000364557:R219W	ENSP00000355060:R441W	R	+	1	2	ARHGEF10L	17825041	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.389000	0.44407	2.323000	0.78572	0.462000	0.41574	CGG		0.617	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125	
FCRLA	84824	broad.mit.edu	37	1	161681929	161681929	+	Silent	SNP	C	C	T	rs147507735		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr1:161681929C>T	ENST00000236938.6	+	4	998	c.756C>T	c.(754-756)tcC>tcT	p.S252S	FCRLA_ENST00000294796.4_Silent_p.S101S|FCRLA_ENST00000540521.1_Silent_p.S118S|FCRLA_ENST00000546024.1_Silent_p.S163S|FCRLA_ENST00000367953.3_Silent_p.S241S|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367957.2_Silent_p.S112S|FCRLA_ENST00000540926.1_Silent_p.S241S|FCRLA_ENST00000367959.2_Silent_p.S258S|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000309691.6_Silent_p.S146S|FCRLA_ENST00000367950.1_Intron	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	235	Ig-like C2-type 2.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.S235S(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			AAGATCACTCCGGGTCATACT	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17980	0.0		0.0	False		,,,				2504	0.0				p.S118S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C354T	1						.	C	,,,,,,	0,4406		0,0,2203	69.0	70.0	70.0		774,489,354,,336,,756	-3.2	1.0	1	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous,intron,coding-synonymous	FCRLA	NM_001184866.1,NM_001184867.1,NM_001184870.1,NM_001184871.1,NM_001184872.1,NM_001184873.1,NM_032738.3	,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,	258/383,163/288,118/243,,112/237,,252/377	161681929	1,13005	2203	4300	6503	159948553	SO:0001819	synonymous_variant	84824	exon3			AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.756C>T	1.37:g.161681929C>T			159948553	NM_001184870	A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Silent	SNP	ENST00000236938.6	37	CCDS30926.1																																																																																				0.547	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738	
RGS18	64407	broad.mit.edu	37	1	192127881	192127881	+	Missense_Mutation	SNP	A	A	C			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr1:192127881A>C	ENST00000367460.3	+	1	295	c.114A>C	c.(112-114)aaA>aaC	p.K38N	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	38					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.K38N(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGAAGCCAAAATCAGGTAAA	0.289																																					p.K38N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A114C	1						.						47.0	51.0	49.0					1																	192127881		2202	4288	6490	190394504	SO:0001583	missense	64407	exon1			AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.114A>C	1.37:g.192127881A>C	ENSP00000356430:p.Lys38Asn		190394504	NM_130782	B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.406114	0.42715	.	.	ENSG00000150681	ENST00000367460	T	0.52983	0.64	6.06	6.06	0.98353	.	0.172268	0.53938	D	0.000045	T	0.57460	0.2055	L	0.48362	1.52	0.42234	D	0.991909	D	0.89917	1.0	D	0.85130	0.997	T	0.55630	-0.8111	10	0.25106	T	0.35	.	9.096	0.36640	0.9189:0.0:0.0811:0.0	.	38	Q9NS28	RGS18_HUMAN	N	38	ENSP00000356430:K38N	ENSP00000356430:K38N	K	+	3	2	RGS18	190394504	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	2.836000	0.48183	2.323000	0.78572	0.528000	0.53228	AAA		0.289	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782	
PPFIA4	8497	broad.mit.edu	37	1	203037713	203037713	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr1:203037713A>G	ENST00000447715.2	+	32	3656	c.3215A>G	c.(3214-3216)aAc>aGc	p.N1072S	PPFIA4_ENST00000272198.6_Missense_Mutation_p.N588S|PPFIA4_ENST00000295706.4_Missense_Mutation_p.N579S|PPFIA4_ENST00000599966.1_Missense_Mutation_p.N579S|PPFIA4_ENST00000367240.2_Missense_Mutation_p.N1073S|PPFIA4_ENST00000414050.2_Missense_Mutation_p.N801S			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	1072	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.N1218S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TTCGACCACAACACACTGGCC	0.557																																					p.N588S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1763G	1						.						63.0	64.0	64.0					1																	203037713		2079	4202	6281	201304336	SO:0001583	missense	8497	exon14			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.3215A>G	1.37:g.203037713A>G	ENSP00000402576:p.Asn1072Ser		201304336	NM_015053	A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37		.	.	.	.	.	.	.	.	.	.	A	2.142	-0.396682	0.04899	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	3.59	2.44	0.29823	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.000000	0.44285	U	0.000471	T	0.71048	0.3294	L	0.28400	0.85	0.34394	D	0.694563	B;B;B;B;B	0.15141	0.001;0.001;0.004;0.01;0.012	B;B;B;B;B	0.18871	0.014;0.01;0.01;0.013;0.023	T	0.62177	-0.6909	10	0.05351	T	0.99	-18.1887	8.8953	0.35460	0.9086:0.0:0.0914:0.0	.	801;1072;274;579;588	B4DIS5;B1N949;B3KN22;O75335-2;O75335	.;.;.;.;LIPA4_HUMAN	S	1073;1072;579;801;588	ENSP00000356209:N1073S;ENSP00000402576:N1072S;ENSP00000295706:N579S;ENSP00000400379:N801S;ENSP00000272198:N588S	ENSP00000272198:N588S	N	+	2	0	PPFIA4	201304336	1.000000	0.71417	0.776000	0.31678	0.828000	0.46876	3.466000	0.53071	0.559000	0.29153	0.454000	0.30748	AAC		0.557	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053	
CNTN2	6900	broad.mit.edu	37	1	205034939	205034939	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr1:205034939C>A	ENST00000331830.4	+	14	2002	c.1718C>A	c.(1717-1719)aCc>aAc	p.T573N		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	573	Ig-like C2-type 6.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.T573N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGGGATCTGACCATCCTGAAC	0.637																																					p.T573N	Melanoma(183;2548 2817 37099 41192)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1718A	1						.						87.0	77.0	80.0					1																	205034939		2203	4300	6503	203301562	SO:0001583	missense	6900	exon14			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1718C>A	1.37:g.205034939C>A	ENSP00000330633:p.Thr573Asn		203301562	NM_005076	P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235499	0.39498	.	.	ENSG00000184144	ENST00000331830	T	0.31247	1.5	5.75	3.86	0.44501	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.251932	0.28296	N	0.015875	T	0.20901	0.0503	L	0.33753	1.03	0.27115	N	0.96229	B;P	0.38335	0.052;0.627	B;B	0.38755	0.128;0.281	T	0.17289	-1.0374	10	0.62326	D	0.03	.	3.516	0.07725	0.1407:0.5779:0.1359:0.1455	.	573;464	Q02246;Q68DA2	CNTN2_HUMAN;.	N	573	ENSP00000330633:T573N	ENSP00000330633:T573N	T	+	2	0	CNTN2	203301562	0.338000	0.24775	1.000000	0.80357	0.562000	0.35680	1.036000	0.30228	0.767000	0.33267	-0.282000	0.10007	ACC		0.637	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076	
KPNA6	23633	broad.mit.edu	37	1	32620270	32620270	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr1:32620270G>A	ENST00000373625.3	+	2	179	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	KPNA6_ENST00000537234.1_Missense_Mutation_p.R26Q|KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Missense_Mutation_p.R34Q	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	29	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.R29Q(1)		large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GAAATGAGACGAAGAAGAGAG	0.438																																					p.R29Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G86A	1						.						84.0	80.0	81.0					1																	32620270		2203	4300	6503	32392857	SO:0001583	missense	23633	exon2			AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.86G>A	1.37:g.32620270G>A	ENSP00000362728:p.Arg29Gln		32392857	NM_012316	B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	CCDS352.1	.	.	.	.	.	.	.	.	.	.	g	19.75	3.885795	0.72410	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542	T;T;T	0.58940	0.3;0.3;0.3	5.6	4.69	0.59074	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79464	0.4450	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.921	D	0.84162	0.0429	10	0.87932	D	0	-4.8948	14.8105	0.69992	0.0693:0.0:0.9307:0.0	.	34;29	F5GYL8;O60684	.;IMA7_HUMAN	Q	29;3;26;34	ENSP00000362728:R29Q;ENSP00000444930:R26Q;ENSP00000440609:R34Q	ENSP00000362719:R3Q	R	+	2	0	KPNA6	32392857	1.000000	0.71417	0.981000	0.43875	0.000000	0.00434	9.869000	0.99810	1.527000	0.49086	-0.136000	0.14681	CGA		0.438	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316	
RLF	6018	broad.mit.edu	37	1	40704572	40704572	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr1:40704572G>A	ENST00000372771.4	+	8	4225	c.4198G>A	c.(4198-4200)Gaa>Aaa	p.E1400K		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1400					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E1400K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGTACTTTCCGAAGCTGGATC	0.413																																					p.E1400K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4198A	1						.						77.0	75.0	76.0					1																	40704572		2203	4300	6503	40477159	SO:0001583	missense	6018	exon8				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.4198G>A	1.37:g.40704572G>A	ENSP00000361857:p.Glu1400Lys		40477159	NM_012421	Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	9.467	1.094685	0.20471	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.13778	2.56	6.17	6.17	0.99709	.	0.384402	0.31922	N	0.006855	T	0.09642	0.0237	N	0.22421	0.69	0.41634	D	0.98903	P;P	0.41748	0.761;0.649	B;B	0.31337	0.128;0.097	T	0.27706	-1.0066	10	0.22109	T	0.4	-11.893	19.0599	0.93085	0.0:0.0:1.0:0.0	.	1093;1400	F5H2M5;Q13129	.;RLF_HUMAN	K	1400;1093	ENSP00000361857:E1400K	ENSP00000361857:E1400K	E	+	1	0	RLF	40477159	1.000000	0.71417	0.998000	0.56505	0.881000	0.50899	5.081000	0.64444	2.941000	0.99782	0.655000	0.94253	GAA		0.413	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	
GLIS1	148979	broad.mit.edu	37	1	54059906	54059906	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr1:54059906G>T	ENST00000312233.2	-	3	1236	c.670C>A	c.(670-672)Cgc>Agc	p.R224S		NM_147193.2	NP_671726.2			GLIS family zinc finger 1									p.R224S(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TCGCCCTTGCGCTGGTCGATG	0.657																																					p.R224S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C670A	1						.						91.0	68.0	76.0					1																	54059906		2203	4300	6503	53832494	SO:0001583	missense	148979	exon3			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.670C>A	1.37:g.54059906G>T	ENSP00000309653:p.Arg224Ser		53832494	NM_147193		Missense_Mutation	SNP	ENST00000312233.2	37	CCDS582.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779339	0.90195	.	.	ENSG00000174332	ENST00000312233	D	0.91180	-2.8	5.2	5.2	0.72013	.	0.000000	0.56097	D	0.000038	D	0.87557	0.6207	L	0.56124	1.755	0.80722	D	1	P	0.43392	0.805	B	0.36845	0.234	D	0.88674	0.3197	10	0.52906	T	0.07	.	15.4867	0.75573	0.0:0.0:0.861:0.139	.	224	Q8NBF1	GLIS1_HUMAN	S	224	ENSP00000309653:R224S	ENSP00000309653:R224S	R	-	1	0	GLIS1	53832494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.543000	0.67225	2.606000	0.88127	0.563000	0.77884	CGC		0.657	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193	
NBPF20	100288142	broad.mit.edu	37	1	148346627	148346627	+	Missense_Mutation	SNP	C	C	G	rs76089733|rs9442115	byFrequency	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr1:148346627C>G	ENST00000369202.1	-	2	327	c.130G>C	c.(130-132)Gta>Cta	p.V44L	NBPF20_ENST00000414710.2_Missense_Mutation_p.V44L			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	44						cytoplasm (GO:0005737)		p.V44L(2)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						AGTTGAGTTACAAAACATCTC	0.453													.|||	6	0.00119808	0.0008	0.0	5008	,	,		24987	0.003		0.002	False		,,,				2504	0.0				.												.	.	2	Substitution - Missense(2)	large_intestine(2)	.	1						.						99.0	109.0	106.0					1																	148346627		2110	4268	6378	146713251	SO:0001583	missense	200030	.				CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.130G>C	1.37:g.148346627C>G	ENSP00000358203:p.Val44Leu		146713251	.		Missense_Mutation	SNP	ENST00000369202.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-2.930962|-2.930962	0.00053|0.00053	.|.	.|.	ENSG00000203832|ENSG00000203832	ENST00000369189|ENST00000369202;ENST00000369188;ENST00000414710	T|T;T;T	0.02140|0.04502	4.43|4.09;4.25;3.61	0.521|0.521	-1.04|-1.04	0.10068|0.10068	.|.	.|.	.|.	.|.	.|.	T|T	0.00845|0.00845	0.0028|0.0028	.|.	.|.	.|.	.|.	.|.	.|.	P|B;B	0.41041|0.12013	0.736|0.0;0.005	B|B;B	0.28784|0.14578	0.094|0.0;0.011	T|T	0.47623|0.47623	-0.9103|-0.9103	6|6	0.02654|0.27082	T|T	1|0.32	.|.	.|.	.|.	.|.	.|.	3|44;44	Q6P3W6-2|Q6P3W6;F5H1Q5	.|NBPFA_HUMAN;.	S|L	3|44	ENSP00000358190:C3S|ENSP00000358203:V44L;ENSP00000358189:V44L;ENSP00000389520:V44L	ENSP00000358190:C3S|ENSP00000358189:V44L	C|V	-|-	2|1	0|0	NBPF20|NBPF20	146713251|146713251	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	-0.390000|-0.390000	0.07332|0.07332	-0.716000|-0.716000	0.04962|0.04962	-1.109000|-1.109000	0.02080|0.02080	TGT|GTA		0.453	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000100689.2		
OR2M5	127059	broad.mit.edu	37	1	248308999	248308999	+	Silent	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr1:248308999C>T	ENST00000366476.1	+	1	550	c.550C>T	c.(550-552)Cta>Tta	p.L184L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L184L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTTCCCTTCCCTACTAATCCT	0.423																																					p.L184L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C550T	1						.						295.0	279.0	284.0					1																	248308999		2203	4300	6503	246375622	SO:0001819	synonymous_variant	127059	exon1				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.550C>T	1.37:g.248308999C>T			246375622	NM_001004690		Silent	SNP	ENST00000366476.1	37	CCDS31105.1																																																																																				0.423	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690	
ZBTB46	140685	broad.mit.edu	37	20	62421630	62421630	+	Missense_Mutation	SNP	C	C	T	rs375790108		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr20:62421630C>T	ENST00000245663.4	-	2	631	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Missense_Mutation_p.V161M|ZBTB46_ENST00000302995.2_Missense_Mutation_p.V161M	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	161					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.V161M(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCAGCCATCACGGCCGAGATG	0.642																																					p.V161M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G481A	20						.	C	MET/VAL	1,4405		0,1,2202	27.0	25.0	26.0		481	4.7	0.5	20		26	0,8600		0,0,4300	no	missense	ZBTB46	NM_025224.3	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	161/590	62421630	1,13005	2203	4300	6503	61892074	SO:0001583	missense	140685	exon2			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.481G>A	20.37:g.62421630C>T	ENSP00000245663:p.Val161Met		61892074	NM_025224	E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	C	9.992	1.231147	0.22626	2.27E-4	0.0	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.11277	2.79;2.79;2.79	5.64	4.7	0.59300	.	0.065773	0.64402	D	0.000007	T	0.09335	0.0230	L	0.47716	1.5	0.36979	D	0.894205	P	0.36282	0.546	B	0.22386	0.039	T	0.22452	-1.0216	10	0.32370	T	0.25	.	13.8305	0.63377	0.0:0.9263:0.0:0.0737	.	161	Q86UZ6	ZBT46_HUMAN	M	161	ENSP00000245663:V161M;ENSP00000303102:V161M;ENSP00000378536:V161M	ENSP00000245663:V161M	V	-	1	0	ZBTB46	61892074	1.000000	0.71417	0.460000	0.27093	0.002000	0.02628	5.335000	0.65929	1.400000	0.46741	-0.157000	0.13467	GTG		0.642	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224	
SCAF4	57466	broad.mit.edu	37	21	33073398	33073398	+	Silent	SNP	A	A	G			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr21:33073398A>G	ENST00000286835.7	-	7	1069	c.687T>C	c.(685-687)gcT>gcC	p.A229A	SCAF4_ENST00000399804.1_Silent_p.A229A|SCAF4_ENST00000434667.3_Silent_p.A214A	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	229						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A229A(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAGCTGTGATAGCCTGAACCT	0.448																																					p.A214A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T642C	21						.						150.0	143.0	145.0					21																	33073398		2203	4300	6503	31995269	SO:0001819	synonymous_variant	57466	exon6			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.687T>C	21.37:g.33073398A>G			31995269	NM_001145444	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Silent	SNP	ENST00000286835.7	37	CCDS33537.1																																																																																				0.448	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889	
RRP1B	23076	broad.mit.edu	37	21	45113110	45113110	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr21:45113110C>T	ENST00000340648.4	+	16	2240	c.2123C>T	c.(2122-2124)aCg>aTg	p.T708M		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	708					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)	p.T708M(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GTCAGTCCCACGGGCCCTTCT	0.582																																					p.T708M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2123T	21						.						41.0	42.0	42.0					21																	45113110		2203	4300	6503	43937538	SO:0001583	missense	23076	exon16			AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.2123C>T	21.37:g.45113110C>T	ENSP00000339145:p.Thr708Met		43937538	NM_015056	Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343324	0.61073	.	.	ENSG00000160208	ENST00000340648	T	0.34072	1.38	5.81	4.01	0.46588	.	0.659026	0.16041	N	0.232440	T	0.29914	0.0748	M	0.67953	2.075	0.27161	N	0.961161	D	0.53312	0.959	B	0.35655	0.207	T	0.41378	-0.9512	10	0.87932	D	0	-3.5571	5.719	0.17976	0.1944:0.6452:0.0:0.1604	.	708	Q14684	RRP1B_HUMAN	M	708	ENSP00000339145:T708M	ENSP00000339145:T708M	T	+	2	0	RRP1B	43937538	0.967000	0.33354	0.860000	0.33809	0.787000	0.44495	2.269000	0.43346	0.807000	0.34208	0.655000	0.94253	ACG		0.582	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056	
MCM6	4175	broad.mit.edu	37	2	136602189	136602189	+	Missense_Mutation	SNP	C	C	G			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr2:136602189C>G	ENST00000264156.2	-	16	2335	c.2275G>C	c.(2275-2277)Gag>Cag	p.E759Q	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	759					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)	p.E759Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		GAGTCTATCTCTGATTCGATT	0.383																																					p.E759Q	Ovarian(196;141 2104 8848 24991 25939)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2275C	2						.						135.0	132.0	133.0					2																	136602189		2203	4300	6503	136318659	SO:0001583	missense	4175	exon16				CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.2275G>C	2.37:g.136602189C>G	ENSP00000264156:p.Glu759Gln		136318659	NM_005915	B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675165	0.67928	.	.	ENSG00000076003	ENST00000264156	T	0.03413	3.94	5.86	5.86	0.93980	.	0.105248	0.64402	D	0.000002	T	0.06050	0.0157	L	0.45422	1.42	0.80722	D	1	B	0.12630	0.006	B	0.17722	0.019	T	0.45308	-0.9270	10	0.27785	T	0.31	-13.0633	20.1864	0.98220	0.0:1.0:0.0:0.0	.	759	Q14566	MCM6_HUMAN	Q	759	ENSP00000264156:E759Q	ENSP00000264156:E759Q	E	-	1	0	MCM6	136318659	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.662000	0.83803	2.781000	0.95711	0.650000	0.86243	GAG		0.383	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915	
LRP1B	53353	broad.mit.edu	37	2	141250214	141250214	+	Missense_Mutation	SNP	A	A	C			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr2:141250214A>C	ENST00000389484.3	-	57	10054	c.9083T>G	c.(9082-9084)aTt>aGt	p.I3028S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3028					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.I3028S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCAGTGCTAATTTTCCTTAT	0.358										TSP Lung(27;0.18)																											p.I3028S	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T9083G	2						.						216.0	190.0	199.0					2																	141250214		2203	4300	6503	140966684	SO:0001583	missense	53353	exon57			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9083T>G	2.37:g.141250214A>C	ENSP00000374135:p.Ile3028Ser		140966684	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.788774	0.70337	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91996	-2.95	5.25	5.25	0.73442	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.086137	0.48767	D	0.000169	D	0.91195	0.7226	M	0.74389	2.26	0.41910	D	0.990468	B	0.33073	0.396	B	0.29785	0.107	D	0.91553	0.5258	10	0.87932	D	0	.	15.1304	0.72517	1.0:0.0:0.0:0.0	.	3028	Q9NZR2	LRP1B_HUMAN	S	3028;2966	ENSP00000374135:I3028S	ENSP00000374135:I3028S	I	-	2	0	LRP1B	140966684	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.246000	0.95438	1.985000	0.57927	0.377000	0.23210	ATT		0.358	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
ZEB2	9839	broad.mit.edu	37	2	145157202	145157202	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr2:145157202G>A	ENST00000558170.2	-	8	2736	c.1552C>T	c.(1552-1554)Cat>Tat	p.H518Y	ZEB2_ENST00000539609.3_Missense_Mutation_p.H494Y|ZEB2_ENST00000409487.3_Missense_Mutation_p.H518Y|ZEB2_ENST00000303660.4_Missense_Mutation_p.H518Y	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	518					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.H518Y(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCACCATTATGACTCACTACC	0.428																																					p.H494Y	Melanoma(33;1235 1264 5755 16332)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1480T	2						.						66.0	68.0	67.0					2																	145157202		2203	4300	6503	144873672	SO:0001583	missense	9839	exon7			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1552C>T	2.37:g.145157202G>A	ENSP00000454157:p.His518Tyr		144873672	NM_001171653	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468831	0.63625	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.88028	0.6327	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.61697	0.975;0.963;0.963;0.99	D;P;P;D	0.77004	0.915;0.702;0.702;0.989	D	0.88299	0.2948	10	0.87932	D	0	-9.6439	19.9312	0.97120	0.0:0.0:1.0:0.0	.	494;383;517;518	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	Y	494;518;518;518	ENSP00000443792:H494Y;ENSP00000302501:H518Y;ENSP00000386854:H518Y;ENSP00000395496:H518Y	ENSP00000302501:H518Y	H	-	1	0	ZEB2	144873672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.700000	0.92200	0.650000	0.86243	CAT		0.428	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	
NEB	4703	broad.mit.edu	37	2	152432808	152432808	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr2:152432808G>A	ENST00000172853.10	-	78	11809	c.11662C>T	c.(11662-11664)Cct>Tct	p.P3888S	NEB_ENST00000604864.1_Missense_Mutation_p.P5589S|NEB_ENST00000427231.2_Missense_Mutation_p.P5589S|NEB_ENST00000603639.1_Missense_Mutation_p.P5589S|NEB_ENST00000409198.1_Missense_Mutation_p.P3888S|NEB_ENST00000397345.3_Missense_Mutation_p.P5589S			P20929	NEBU_HUMAN	nebulin	3888					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.P3888S(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AACACTTCAGGAGACCCTTGG	0.483																																					p.P5589S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C16765T	2						.						99.0	104.0	102.0					2																	152432808		1898	4128	6026	152141054	SO:0001583	missense	4703	exon106			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11662C>T	2.37:g.152432808G>A	ENSP00000172853:p.Pro3888Ser		152141054	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	16.61	3.170664	0.57584	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000413693;ENST00000172853	T;T;T;T;T	0.08193	3.41;3.13;3.12;3.23;3.41	5.9	5.9	0.94986	.	0.252743	0.39407	N	0.001366	T	0.16811	0.0404	L	0.58101	1.795	0.80722	D	1	P;D	0.53745	0.609;0.962	B;P	0.51918	0.32;0.684	T	0.00180	-1.1948	10	0.37606	T	0.19	.	13.4759	0.61308	0.0712:0.0:0.9288:0.0	.	3888;319	P20929;Q14215	NEBU_HUMAN;.	S	3888;5589;5589;319;3888	ENSP00000386259:P3888S;ENSP00000380505:P5589S;ENSP00000416578:P5589S;ENSP00000410961:P319S;ENSP00000172853:P3888S	ENSP00000172853:P3888S	P	-	1	0	NEB	152141054	1.000000	0.71417	0.995000	0.50966	0.468000	0.32798	2.825000	0.48096	2.786000	0.95864	0.563000	0.77884	CCT		0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
SCN7A	6332	broad.mit.edu	37	2	167334060	167334060	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr2:167334060C>A	ENST00000409855.1	-	2	273	c.147G>T	c.(145-147)aaG>aaT	p.K49N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	49					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.K49N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TAAATGGAAGCTTTTTGCCAA	0.343																																					p.K49N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G147T	2						.						56.0	53.0	54.0					2																	167334060		1835	4071	5906	167042306	SO:0001583	missense	6332	exon2			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.147G>T	2.37:g.167334060C>A	ENSP00000386796:p.Lys49Asn		167042306	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	1.260	-0.616195	0.03663	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98135	-4.1;-4.12;-4.74	4.63	2.81	0.32909	.	1.070290	0.07276	N	0.869965	D	0.93012	0.7776	N	0.21240	0.645	0.19300	N	0.999978	B	0.06786	0.001	B	0.04013	0.001	D	0.84646	0.0698	10	0.12103	T	0.63	.	5.1061	0.14785	0.0:0.5814:0.1536:0.2651	.	49	Q01118	SCN7A_HUMAN	N	49	ENSP00000386796:K49N;ENSP00000413699:K49N;ENSP00000403846:K49N	ENSP00000259060:K49N	K	-	3	2	SCN7A	167042306	0.000000	0.05858	0.982000	0.44146	0.204000	0.24138	-0.588000	0.05774	0.660000	0.30964	0.655000	0.94253	AAG		0.343	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
FASTKD1	79675	broad.mit.edu	37	2	170428267	170428267	+	Silent	SNP	A	A	G			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr2:170428267A>G	ENST00000453153.2	-	2	619	c.273T>C	c.(271-273)taT>taC	p.Y91Y	FASTKD1_ENST00000453929.2_Silent_p.Y91Y	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	91					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.Y91Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GGTCTCTGACATACTCAGCAT	0.363																																					p.Y91Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T273C	2						.						90.0	85.0	86.0					2																	170428267		2203	4300	6503	170136513	SO:0001819	synonymous_variant	79675	exon2			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.273T>C	2.37:g.170428267A>G			170136513	NM_024622	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Silent	SNP	ENST00000453153.2	37	CCDS33318.1																																																																																				0.363	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622	
ZNF385B	151126	broad.mit.edu	37	2	180307983	180307983	+	Silent	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr2:180307983C>T	ENST00000410066.1	-	10	2013	c.1410G>A	c.(1408-1410)ccG>ccA	p.P470P	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Silent_p.P394P|ZNF385B_ENST00000409692.1_Silent_p.P368P|ZNF385B_ENST00000336917.5_Silent_p.P368P	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	470	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)	p.P470P(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GACGTTAGTACGGAGCAAAGA	0.552																																					p.P394P	Colon(155;204 2491 32774 51842)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1182A	2						.						33.0	38.0	36.0					2																	180307983		2203	4299	6502	180016228	SO:0001819	synonymous_variant	151126	exon8			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.1410G>A	2.37:g.180307983C>T			180016228	NM_001113397	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	ENST00000410066.1	37	CCDS33339.1																																																																																				0.552	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520	
FN1	2335	broad.mit.edu	37	2	216262550	216262550	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr2:216262550C>T	ENST00000359671.1	-	22	3635	c.3370G>A	c.(3370-3372)Gga>Aga	p.G1124R	FN1_ENST00000356005.4_Missense_Mutation_p.G1124R|FN1_ENST00000354785.4_Missense_Mutation_p.G1124R|FN1_ENST00000323926.6_Missense_Mutation_p.G1124R|FN1_ENST00000336916.4_Missense_Mutation_p.G1124R|FN1_ENST00000432072.2_Missense_Mutation_p.G1124R|FN1_ENST00000346544.3_Missense_Mutation_p.G1124R|FN1_ENST00000421182.1_Missense_Mutation_p.G1124R|FN1_ENST00000345488.5_Missense_Mutation_p.G1124R|FN1_ENST00000357867.4_Missense_Mutation_p.G1124R|FN1_ENST00000446046.1_Missense_Mutation_p.G1124R|FN1_ENST00000443816.1_Missense_Mutation_p.G1124R|FN1_ENST00000357009.2_Missense_Mutation_p.G1124R			P02751	FINC_HUMAN	fibronectin 1	1124	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.G1124R(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GCCTCTCCTCCCTGGCTTGGT	0.498																																					p.G1124R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3370A	2						.						131.0	106.0	115.0					2																	216262550		2203	4300	6503	215970795	SO:0001583	missense	2335	exon22				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3370G>A	2.37:g.216262550C>T	ENSP00000352696:p.Gly1124Arg		215970795	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	C	21.3	4.128718	0.77549	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000002	T	0.58235	0.2108	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;0.998;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.988;0.996;1.0;1.0;0.984;1.0;1.0;1.0;1.0	T	0.58137	-0.7689	10	0.62326	D	0.03	.	19.4485	0.94857	0.0:1.0:0.0:0.0	.	1124;1124;1124;1124;1124;1124;1124;1124;1124;1124	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	R	1124	ENSP00000394423:G1124R;ENSP00000323534:G1124R;ENSP00000338200:G1124R;ENSP00000350534:G1124R;ENSP00000346839:G1124R;ENSP00000352696:G1124R;ENSP00000265312:G1124R;ENSP00000273049:G1124R;ENSP00000349509:G1124R;ENSP00000410422:G1124R;ENSP00000415018:G1124R;ENSP00000399538:G1124R;ENSP00000348285:G1124R	ENSP00000265313:G1124R	G	-	1	0	FN1	215970795	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.470000	0.53100	2.672000	0.90937	0.591000	0.81541	GGA		0.498	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
TMEM198	130612	broad.mit.edu	37	2	220412346	220412346	+	Silent	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr2:220412346C>T	ENST00000344458.2	+	4	870	c.285C>T	c.(283-285)agC>agT	p.S95S	TMEM198_ENST00000373883.3_Silent_p.S95S|RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	95	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S95S(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGGGGCGAGCGCGGGCATCG	0.657																																					p.S95S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C285T	2						.						141.0	138.0	139.0					2																	220412346		2203	4300	6503	220120590	SO:0001819	synonymous_variant	130612	exon3			BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.285C>T	2.37:g.220412346C>T			220120590	NM_001005209		Silent	SNP	ENST00000344458.2	37	CCDS33385.1																																																																																				0.657	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209	
HK2	3099	broad.mit.edu	37	2	75118018	75118018	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr2:75118018G>A	ENST00000290573.2	+	18	3304	c.2704G>A	c.(2704-2706)Gcg>Acg	p.A902T	HK2_ENST00000409174.1_Missense_Mutation_p.A874T	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	902	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.A902T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GAAGGGGGCGGCGCTCATCAC	0.557																																					p.A902T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2704A	2						.						72.0	73.0	73.0					2																	75118018		2203	4300	6503	74971526	SO:0001583	missense	3099	exon18				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2704G>A	2.37:g.75118018G>A	ENSP00000290573:p.Ala902Thr		74971526	NM_000189	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990453	0.93106	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.99515	-6.06;-6.06	4.99	4.99	0.66335	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	H	0.96916	3.905	0.80722	D	1	D	0.65815	0.995	D	0.77557	0.99	D	0.97341	0.9957	10	0.87932	D	0	-15.6274	15.8192	0.78626	0.0:0.0:1.0:0.0	.	902	P52789	HXK2_HUMAN	T	902;902;874	ENSP00000290573:A902T;ENSP00000387140:A874T	ENSP00000290573:A902T	A	+	1	0	HK2	74971526	1.000000	0.71417	0.787000	0.31911	0.570000	0.35934	9.263000	0.95617	2.609000	0.88269	0.561000	0.74099	GCG		0.557	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189	
ASTL	431705	broad.mit.edu	37	2	96789932	96789932	+	Missense_Mutation	SNP	G	G	A	rs144613777		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr2:96789932G>A	ENST00000342380.2	-	9	952	c.953C>T	c.(952-954)gCg>gTg	p.A318V		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)									p.A318V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTGGATTCCGCCGACAGTGC	0.672																																					p.A318V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C953T	2						.	G	VAL/ALA	0,4390		0,0,2195	17.0	21.0	19.0		953	-9.5	0.0	2	dbSNP_134	19	1,8567		0,1,4283	no	missense	ASTL	NM_001002036.3	64	0,1,6478	AA,AG,GG		0.0117,0.0,0.0077	benign	318/432	96789932	1,12957	2195	4284	6479	96153659	SO:0001583	missense	431705	exon9			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.953C>T	2.37:g.96789932G>A	ENSP00000343674:p.Ala318Val		96153659	NM_001002036		Missense_Mutation	SNP	ENST00000342380.2	37	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521582	0.27211	0.0	1.17E-4	ENSG00000188886	ENST00000342380	T	0.66280	-0.2	4.74	-9.48	0.00591	.	0.739872	0.11360	N	0.572030	T	0.34395	0.0896	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.15292	-1.0442	10	0.51188	T	0.08	0.8692	2.1512	0.03800	0.1391:0.0991:0.3503:0.4115	.	318	Q6HA08	ASTL_HUMAN	V	318	ENSP00000343674:A318V	ENSP00000343674:A318V	A	-	2	0	ASTL	96153659	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.973000	0.03798	-3.031000	0.00266	-0.390000	0.06520	GCG		0.672	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1		
CUL3	8452	broad.mit.edu	37	2	225365093	225365093	+	Missense_Mutation	SNP	C	C	G			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr2:225365093C>G	ENST00000264414.4	-	11	1935	c.1597G>C	c.(1597-1599)Gag>Cag	p.E533Q	CUL3_ENST00000409096.1_Missense_Mutation_p.E509Q|CUL3_ENST00000344951.4_Missense_Mutation_p.E467Q|CUL3_ENST00000409777.1_Missense_Mutation_p.E509Q	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	533					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.E533Q(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTGAATATCTCAAAAGCATGT	0.403																																					p.E533Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1597C	2						.						193.0	176.0	181.0					2																	225365093		2203	4300	6503	225073337	SO:0001583	missense	8452	exon11			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1597G>C	2.37:g.225365093C>G	ENSP00000264414:p.Glu533Gln		225073337	NM_003590	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134422	0.94517	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	6.03	6.03	0.97812	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.82148	0.4974	L	0.52266	1.64	0.80722	D	1	D;D;D	0.57257	0.974;0.979;0.979	P;P;P	0.60886	0.809;0.88;0.88	T	0.77651	-0.2508	10	0.31617	T	0.26	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	467;511;533	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	Q	533;467;509;509	ENSP00000264414:E533Q;ENSP00000343601:E467Q;ENSP00000387200:E509Q;ENSP00000386525:E509Q	ENSP00000264414:E533Q	E	-	1	0	CUL3	225073337	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.487000	0.81328	2.854000	0.98071	0.655000	0.94253	GAG		0.403	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2		
KALRN	8997	broad.mit.edu	37	3	124053124	124053124	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr3:124053124G>A	ENST00000240874.3	+	9	1580	c.1423G>A	c.(1423-1425)Ggc>Agc	p.G475S	KALRN_ENST00000460856.1_Missense_Mutation_p.G475S|KALRN_ENST00000360013.3_Missense_Mutation_p.G475S	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	475					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G475S(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAGCCAGGATGGCAAAGCACT	0.567																																					p.G475S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1423A	3						.						94.0	97.0	96.0					3																	124053124		2203	4300	6503	125535814	SO:0001583	missense	8997	exon9			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1423G>A	3.37:g.124053124G>A	ENSP00000240874:p.Gly475Ser		125535814	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.41|15.41	2.824550|2.824550	0.50739|0.50739	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.70399|.	-0.48;-0.48;-0.48|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60843|0.60843	0.2300|0.2300	L|L	0.38953|0.38953	1.18|1.18	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.998;1.0|.	T|T	0.55860|0.55860	-0.8074|-0.8074	10|5	0.34782|.	T|.	0.22|.	.|.	18.5393|18.5393	0.91022|0.91022	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	475;475;475|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	S|I	475|452	ENSP00000418611:G475S;ENSP00000240874:G475S;ENSP00000353109:G475S|.	ENSP00000240874:G475S|.	G|M	+|+	1|3	0|0	KALRN|KALRN	125535814|125535814	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	9.601000|9.601000	0.98297|0.98297	2.676000|2.676000	0.91093|0.91093	0.655000|0.655000	0.94253|0.94253	GGC|ATG		0.567	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
SI	6476	broad.mit.edu	37	3	164697179	164697179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr3:164697179C>A	ENST00000264382.3	-	48	5517	c.5455G>T	c.(5455-5457)Gaa>Taa	p.E1819*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1819	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.E1819*(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ATTGGTTCTTCTAGAGTAACA	0.294										HNSCC(35;0.089)																											p.E1819X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5455T	3						.						170.0	165.0	167.0					3																	164697179		2203	4300	6503	166179873	SO:0001587	stop_gained	6476	exon48			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5455G>T	3.37:g.164697179C>A	ENSP00000264382:p.Glu1819*		166179873	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	39	7.466018	0.98302	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.34	3.46	0.39613	.	6.898060	0.00520	N	0.000199	.	.	.	.	.	.	0.41796	D	0.989893	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	8.2909	0.31956	0.0:0.891:0.0:0.109	.	.	.	.	X	1819	.	ENSP00000264382:E1819X	E	-	1	0	SI	166179873	0.001000	0.12720	0.046000	0.18839	0.040000	0.13550	-0.111000	0.10807	1.174000	0.42811	0.585000	0.79938	GAA		0.294	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
OR5K3	403277	broad.mit.edu	37	3	98110009	98110009	+	Missense_Mutation	SNP	C	C	A	rs372568263		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr3:98110009C>A	ENST00000383695.1	+	1	500	c.500C>A	c.(499-501)aCt>aAt	p.T167N	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T167N(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TTGAGGTTAACTTTCTGTGGG	0.383																																					p.T167N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C500A	3						.						156.0	152.0	154.0					3																	98110009		2203	4300	6503	99592699	SO:0001583	missense	403277	exon1				CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.500C>A	3.37:g.98110009C>A	ENSP00000373194:p.Thr167Asn		99592699	NM_001005516		Missense_Mutation	SNP	ENST00000383695.1	37	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	C	9.756	1.168904	0.21621	.	.	ENSG00000206536	ENST00000383695	T	0.00152	8.66	5.15	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.641843	0.13734	N	0.366458	T	0.00178	0.0005	L	0.50919	1.6	0.09310	N	1	B	0.14012	0.009	B	0.21151	0.033	T	0.37361	-0.9709	10	0.59425	D	0.04	-10.436	14.4321	0.67257	0.0:0.5764:0.4236:0.0	.	167	A6NET4	OR5K3_HUMAN	N	167	ENSP00000373194:T167N	ENSP00000373194:T167N	T	+	2	0	OR5K3	99592699	0.000000	0.05858	0.923000	0.36655	0.913000	0.54294	-0.188000	0.09642	0.200000	0.20447	0.603000	0.83216	ACT		0.383	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1		
GOLIM4	27333	broad.mit.edu	37	3	167750610	167750610	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr3:167750610G>A	ENST00000470487.1	-	9	1563	c.874C>T	c.(874-876)Cat>Tat	p.H292Y	GOLIM4_ENST00000309027.4_Missense_Mutation_p.H264Y	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	292					transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.H292Y(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACTGCTTCATGGTTCTGCCAC	0.443																																					p.H292Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C874T	3						.						114.0	115.0	115.0					3																	167750610		2203	4300	6503	169233304	SO:0001583	missense	27333	exon9			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.874C>T	3.37:g.167750610G>A	ENSP00000417354:p.His292Tyr		169233304	NM_014498		Missense_Mutation	SNP	ENST00000470487.1	37	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293534	0.40594	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	4.83	2.92	0.33932	.	1.396830	0.04084	N	0.310133	T	0.44808	0.1311	M	0.65975	2.015	0.09310	N	1	P;P	0.35923	0.528;0.528	B;B	0.34093	0.175;0.175	T	0.38286	-0.9668	9	0.62326	D	0.03	-0.0192	8.7743	0.34751	0.0:0.1461:0.5529:0.301	.	264;292	F8W785;O00461	.;GOLI4_HUMAN	Y	292;264	.	ENSP00000309893:H264Y	H	-	1	0	GOLIM4	169233304	.	.	0.000000	0.03702	0.547000	0.35210	.	.	0.390000	0.25115	0.549000	0.68633	CAT		0.443	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2		
MUC20	200958	broad.mit.edu	37	3	195453018	195453018	+	Frame_Shift_Del	DEL	C	C	-	rs144288174	byFrequency	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr3:195453018delC	ENST00000447234.2	+	2	1670	c.1544delC	c.(1543-1545)gccfs	p.A515fs	MUC20_ENST00000320736.6_Frame_Shift_Del_p.A344fs|MUC20_ENST00000436408.1_Frame_Shift_Del_p.A515fs|MUC20_ENST00000445522.2_Frame_Shift_Del_p.A480fs	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	515	Involved in oligomerization.		Missing. {ECO:0000269|PubMed:14702039}.		activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)		p.T516fs*39(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GCACCCGGGGCCACGACCCTC	0.577													cc|CC|C|deletion	439	0.0876597	0.0295	0.1398	5008	,	,		26511	0.0377		0.169	False		,,,				2504	0.0971				p.A309fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.926delC	3						.		,	185,3935		1,183,1876	54.0	47.0	49.0		,	-0.7	0.0	3	dbSNP_134	54	1243,6833		18,1207,2813	no	frameshift,frameshift	MUC20	NM_152673.2,NM_001098516.1	,	19,1390,4689	A1A1,A1R,RR		15.3913,4.4903,11.7088	,	,	195453018	1428,10768	2136	4208	6344	196938689	SO:0001589	frameshift_variant	200958	exon2			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1544delC	3.37:g.195453018delC	ENSP00000414350:p.Ala515fs		196938689	NM_001098516	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Frame_Shift_Del	DEL	ENST00000447234.2	37																																																																																					0.577	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673	
TRPC3	7222	broad.mit.edu	37	4	122825612	122825612	+	Silent	SNP	G	G	A	rs112487014	byFrequency	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr4:122825612G>A	ENST00000379645.3	-	8	2191	c.2118C>T	c.(2116-2118)tcC>tcT	p.S706S	TRPC3_ENST00000264811.5_Silent_p.S633S|TRPC3_ENST00000513531.1_Silent_p.S578S	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	621					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.S633S(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGAGCACAACGGAAGTCACTT	0.308																																					p.S633S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1899T	4						.						81.0	79.0	80.0					4																	122825612		2203	4298	6501	123045062	SO:0001819	synonymous_variant	7222	exon7			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2118C>T	4.37:g.122825612G>A			123045062	NM_003305	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	ENST00000379645.3	37	CCDS47130.1																																																																																				0.308	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305	
SFRP2	6423	broad.mit.edu	37	4	154702620	154702620	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr4:154702620G>A	ENST00000274063.4	-	3	1155	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	291	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R291C(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TGCAGCTTGCGGATGCTGCGG	0.622																																					p.R291C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C871T	4						.						88.0	77.0	81.0					4																	154702620		2203	4300	6503	154922070	SO:0001583	missense	6423	exon3			AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.871C>T	4.37:g.154702620G>A	ENSP00000274063:p.Arg291Cys		154922070	NM_003013	B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	CCDS34082.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495569	0.85069	.	.	ENSG00000145423	ENST00000274063	T	0.74842	-0.88	5.95	5.95	0.96441	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.000000	0.85682	D	0.000000	D	0.84556	0.5498	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	D	0.84770	0.0767	10	0.87932	D	0	.	20.3697	0.98890	0.0:0.0:1.0:0.0	.	291	Q96HF1	SFRP2_HUMAN	C	291	ENSP00000274063:R291C	ENSP00000274063:R291C	R	-	1	0	SFRP2	154922070	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.000000	0.93564	2.811000	0.96726	0.655000	0.94253	CGC		0.622	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1		
AFAP1	60312	broad.mit.edu	37	4	7820855	7820855	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr4:7820855G>C	ENST00000360265.4	-	6	1004	c.770C>G	c.(769-771)tCa>tGa	p.S257*	AFAP1_ENST00000382543.3_Nonsense_Mutation_p.S257*|AFAP1_ENST00000358461.2_Nonsense_Mutation_p.S257*|AFAP1_ENST00000420658.1_Nonsense_Mutation_p.S257*			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	257						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)		p.S257*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						AGGACACTCTGAATCCACGGG	0.532																																					p.S257X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C770G	4						.						123.0	115.0	117.0					4																	7820855		2203	4300	6503	7871755	SO:0001587	stop_gained	60312	exon7			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.770C>G	4.37:g.7820855G>C	ENSP00000353402:p.Ser257*		7871755	NM_001134647	A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Nonsense_Mutation	SNP	ENST00000360265.4	37	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	36	5.959933	0.97145	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	.	.	.	5.52	2.9	0.33743	.	1.107740	0.06717	N	0.774273	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	0.1571	9.8218	0.40887	0.1949:0.0:0.8051:0.0	.	.	.	.	X	257	.	ENSP00000351245:S257X	S	-	2	0	AFAP1	7871755	0.004000	0.15560	0.000000	0.03702	0.021000	0.10359	1.486000	0.35530	0.308000	0.22923	0.655000	0.94253	TCA		0.532	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638	
FRAS1	80144	broad.mit.edu	37	4	79359767	79359767	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr4:79359767A>G	ENST00000325942.6	+	39	5701	c.5261A>G	c.(5260-5262)tAt>tGt	p.Y1754C	FRAS1_ENST00000264895.6_Missense_Mutation_p.Y1754C	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1754					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.Y1754C(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGTTAAATTATCTGCCCTCA	0.418																																					p.Y1754C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5261G	4						.						79.0	74.0	76.0					4																	79359767		1830	4100	5930	79578791	SO:0001583	missense	80144	exon39			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5261A>G	4.37:g.79359767A>G	ENSP00000326330:p.Tyr1754Cys		79578791	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887092	0.33348	.	.	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000545316	T;T	0.51071	0.72;0.72	6.03	5.18	0.71444	.	0.188345	0.47852	D	0.000213	T	0.33381	0.0861	N	0.08118	0	0.80722	D	1	P;P	0.47604	0.898;0.802	B;B	0.43701	0.428;0.166	T	0.38265	-0.9669	10	0.66056	D	0.02	.	14.8331	0.70162	0.1496:0.8504:0.0:0.0	.	1754;1754	E9PHH6;A2RRR8	.;.	C	1754;1754;174	ENSP00000326330:Y1754C;ENSP00000264895:Y1754C	ENSP00000264895:Y1754C	Y	+	2	0	FRAS1	79578791	1.000000	0.71417	0.938000	0.37757	0.001000	0.01503	4.177000	0.58276	1.526000	0.49068	-0.213000	0.12676	TAT		0.418	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
NEK1	4750	broad.mit.edu	37	4	170523746	170523746	+	Silent	SNP	T	T	C			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr4:170523746T>C	ENST00000439128.2	-	2	676	c.36A>G	c.(34-36)gaA>gaG	p.E12E	NEK1_ENST00000507142.1_Silent_p.E12E|NEK1_ENST00000512193.1_Silent_p.E12E|NEK1_ENST00000510533.1_Silent_p.E12E|NEK1_ENST00000511633.1_Silent_p.E12E	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	12	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E12E(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CAAATGAACCTTCTCCAATCT	0.299																																					p.E12E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A36G	4						.						141.0	139.0	139.0					4																	170523746		1808	4072	5880	170760321	SO:0001819	synonymous_variant	4750	exon2			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.36A>G	4.37:g.170523746T>C			170760321	NM_001199400	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Silent	SNP	ENST00000439128.2	37	CCDS47162.1																																																																																				0.299	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3		
DNAH5	1767	broad.mit.edu	37	5	13717570	13717570	+	Missense_Mutation	SNP	C	C	T	rs141993196		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr5:13717570C>T	ENST00000265104.4	-	73	12663	c.12559G>A	c.(12559-12561)Gca>Aca	p.A4187T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4187	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A4187T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGCCACTGCGTACAGCATG	0.537									Kartagener syndrome																												p.A4187T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G12559A	5						.	C	THR/ALA	0,4406		0,0,2203	62.0	57.0	59.0		12559	4.6	0.1	5	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH5	NM_001369.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	4187/4625	13717570	1,13005	2203	4300	6503	13770570	SO:0001583	missense	1767	exon73	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12559G>A	5.37:g.13717570C>T	ENSP00000265104:p.Ala4187Thr		13770570	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	0.641	-0.813318	0.02798	0.0	1.16E-4	ENSG00000039139	ENST00000265104	T	0.09350	2.99	5.45	4.59	0.56863	Dynein heavy chain (1);	0.175182	0.49305	D	0.000150	T	0.11410	0.0278	L	0.47190	1.495	0.37161	D	0.902592	B	0.27791	0.189	B	0.27380	0.079	T	0.12863	-1.0531	10	0.21540	T	0.41	.	14.1733	0.65525	0.0:0.9279:0.0:0.0721	.	4187	Q8TE73	DYH5_HUMAN	T	4187	ENSP00000265104:A4187T	ENSP00000265104:A4187T	A	-	1	0	DNAH5	13770570	0.965000	0.33210	0.143000	0.22291	0.044000	0.14063	2.641000	0.46587	1.308000	0.44962	-0.136000	0.14681	GCA		0.537	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
PRDM9	56979	broad.mit.edu	37	5	23527376	23527376	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr5:23527376C>T	ENST00000296682.3	+	11	2361	c.2179C>T	c.(2179-2181)Cgg>Tgg	p.R727W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	727					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.R727W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTAG	0.597										HNSCC(3;0.000094)																											p.R727W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2179T	5						.						20.0	21.0	21.0					5																	23527376		2014	4049	6063	23563133	SO:0001583	missense	56979	exon11			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2179C>T	5.37:g.23527376C>T	ENSP00000296682:p.Arg727Trp		23563133	NM_020227	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	7.978	0.750505	0.15778	.	.	ENSG00000164256	ENST00000296682	T	0.19806	2.12	2.88	1.99	0.26369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22627	0.0546	M	0.69358	2.11	0.19300	N	0.999978	P	0.47962	0.903	B	0.43889	0.435	T	0.20538	-1.0272	9	0.87932	D	0	.	3.725	0.08472	0.2389:0.6244:0.0:0.1367	.	727	Q9NQV7	PRDM9_HUMAN	W	727	ENSP00000296682:R727W	ENSP00000296682:R727W	R	+	1	2	PRDM9	23563133	0.098000	0.21812	0.823000	0.32752	0.003000	0.03518	2.253000	0.43205	0.761000	0.33130	-0.300000	0.09419	CGG		0.597	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
ANXA2R	389289	broad.mit.edu	37	5	43039603	43039603	+	Silent	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr5:43039603C>T	ENST00000314890.3	-	2	1965	c.546G>A	c.(544-546)gcG>gcA	p.A182A	AC025171.1_ENST00000451894.2_RNA|AC025171.1_ENST00000505541.1_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	182								p.A182A(1)									GTGAACAGCACGCCCAGAGTA	0.542											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A182A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G546A	5						.						86.0	89.0	88.0					5																	43039603		2203	4300	6503	43075360	SO:0001819	synonymous_variant	389289	exon1			BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"""chromosome 5 open reading frame 39"""	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.546G>A	5.37:g.43039603C>T		913	43075360	NM_001014279	Q8NHX5	Silent	SNP	ENST00000314890.3	37	CCDS34153.1																																																																																				0.542	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368030.1	NM_001014279	
APC	324	broad.mit.edu	37	5	112175203	112175203	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr5:112175203delA	ENST00000457016.1	+	16	4292	c.3912delA	c.(3910-3912)atafs	p.I1304fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Del_p.I1304fs|APC_ENST00000257430.4_Frame_Shift_Del_p.I1304fs			P25054	APC_HUMAN	adenomatous polyposis coli	1304	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		I -> V. {ECO:0000269|PubMed:1338764}.		anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.I1304fs*4(3)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCCTGCAAATAGCAGAAATAA	0.418		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.I1286fs	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	5	Deletion - Frameshift(4)|Unknown(1)	large_intestine(3)|soft_tissue(1)|skin(1)	c.3858delA	5						.						53.0	54.0	54.0					5																	112175203		2202	4300	6502	112203102	SO:0001589	frameshift_variant	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3912delA	5.37:g.112175203delA	ENSP00000413133:p.Ile1304fs		112203102	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				0.418	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
ZNF354C	30832	broad.mit.edu	37	5	178504142	178504142	+	Missense_Mutation	SNP	A	A	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr5:178504142A>T	ENST00000315475.6	+	4	531	c.225A>T	c.(223-225)agA>agT	p.R75S		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	75	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R75S(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TGGTGGAAAGAGAAGTCCCTT	0.458																																					p.R75S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A225T	5						.						86.0	84.0	84.0					5																	178504142		2203	4300	6503	178436748	SO:0001583	missense	30832	exon4				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.225A>T	5.37:g.178504142A>T	ENSP00000324064:p.Arg75Ser		178436748	NM_014594	Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	A	1.333	-0.596174	0.03771	.	.	ENSG00000177932	ENST00000315475	T	0.05319	3.46	3.35	0.86	0.19042	Krueppel-associated box (1);	.	.	.	.	T	0.03263	0.0095	N	0.16602	0.42	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48031	-0.9070	9	0.16896	T	0.51	-3.8413	3.4378	0.07452	0.6366:0.2362:0.1272:0.0	.	75	Q86Y25	Z354C_HUMAN	S	75	ENSP00000324064:R75S	ENSP00000324064:R75S	R	+	3	2	ZNF354C	178436748	0.000000	0.05858	0.031000	0.17742	0.004000	0.04260	-0.074000	0.11450	0.174000	0.19809	0.533000	0.62120	AGA		0.458	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2		
REV3L	5980	broad.mit.edu	37	6	111693887	111693887	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr6:111693887T>C	ENST00000358835.3	-	14	6125	c.5671A>G	c.(5671-5673)Atg>Gtg	p.M1891V	REV3L_ENST00000435970.1_Missense_Mutation_p.M1813V|REV3L_ENST00000368802.3_Missense_Mutation_p.M1891V|REV3L_ENST00000368805.1_Missense_Mutation_p.M1891V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1891	Mediates interaction with MAD2L2.				DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.M1813V(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAGTTGCCATAATTTCTTCC	0.423								DNA polymerases (catalytic subunits)																													p.M1891V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5671G	6						.						142.0	150.0	147.0					6																	111693887		2203	4300	6503	111800580	SO:0001583	missense	5980	exon13			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5671A>G	6.37:g.111693887T>C	ENSP00000351697:p.Met1891Val		111800580	NM_002912	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	5.433	0.265109	0.10294	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	6.03	1.37	0.22104	Ribonuclease H-like (1);	0.322330	0.36374	N	0.002640	T	0.06050	0.0157	N	0.10916	0.065	0.24849	N	0.992417	B	0.02656	0.0	B	0.01281	0.0	T	0.42649	-0.9439	10	0.09084	T	0.74	-0.209	8.3599	0.32353	0.0:0.3135:0.0:0.6865	.	1891	O60673	DPOLZ_HUMAN	V	1891;1891;1891;1813	ENSP00000357792:M1891V;ENSP00000357795:M1891V;ENSP00000351697:M1891V;ENSP00000402003:M1813V	ENSP00000351697:M1891V	M	-	1	0	REV3L	111800580	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.687000	0.37680	0.221000	0.20879	-0.250000	0.11733	ATG		0.423	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
RNF182	221687	broad.mit.edu	37	6	13977543	13977543	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr6:13977543C>T	ENST00000488300.1	+	3	716	c.193C>T	c.(193-195)Cct>Tct	p.P65S	RNF182_ENST00000537663.1_Missense_Mutation_p.P65S|RNF182_ENST00000537388.1_Missense_Mutation_p.P65S|RNF182_ENST00000544682.1_Missense_Mutation_p.P65S	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	65					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P65S(1)		cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			CATTGTCTGTCCTTTCTGCAG	0.483																																					p.P65S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C193T	6						.						154.0	145.0	148.0					6																	13977543		2203	4300	6503	14085522	SO:0001583	missense	221687	exon4			AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.193C>T	6.37:g.13977543C>T	ENSP00000420465:p.Pro65Ser		14085522	NM_001165032	B2RDG2|Q8NBG3	Missense_Mutation	SNP	ENST00000488300.1	37	CCDS4531.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032307	0.93575	.	.	ENSG00000180537	ENST00000537663;ENST00000488300;ENST00000544682;ENST00000420478;ENST00000423553;ENST00000537388	D;D;D;D;D;D	0.96522	-4.04;-4.04;-4.04;-3.46;-3.46;-4.04	5.52	5.52	0.82312	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.98707	0.9566	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99577	1.0972	9	.	.	.	-16.3482	19.4268	0.94743	0.0:1.0:0.0:0.0	.	65	Q8N6D2	RN182_HUMAN	S	65	ENSP00000443228:P65S;ENSP00000420465:P65S;ENSP00000442021:P65S;ENSP00000419329:P65S;ENSP00000418717:P65S;ENSP00000441271:P65S	.	P	+	1	0	RNF182	14085522	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.421000	0.80204	2.600000	0.87896	0.563000	0.77884	CCT		0.483	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039911.2	NM_152737	
TRDN	10345	broad.mit.edu	37	6	123892159	123892159	+	Silent	SNP	A	A	C			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr6:123892159A>C	ENST00000398178.3	-	2	162	c.141T>G	c.(139-141)ccT>ccG	p.P47P	TRDN_ENST00000546248.1_Silent_p.P47P|TRDN_ENST00000334268.4_Silent_p.P47P|TRDN_ENST00000542443.1_Silent_p.P47P	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	47					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.P47P(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GCCAGGCTGCAGGGGAGCTGA	0.468																																					p.P47P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T141G	6						.						108.0	113.0	111.0					6																	123892159		2045	4195	6240	123933858	SO:0001819	synonymous_variant	10345	exon2			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.141T>G	6.37:g.123892159A>C			123933858	NM_006073	A5D6W5|F5H2W7|Q6NSB8	Silent	SNP	ENST00000398178.3	37	CCDS55053.1																																																																																				0.468	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
ZNF184	7738	broad.mit.edu	37	6	27420471	27420471	+	Missense_Mutation	SNP	C	C	G			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr6:27420471C>G	ENST00000211936.6	-	6	1151	c.867G>C	c.(865-867)gaG>gaC	p.E289D	ZNF184_ENST00000377419.1_Missense_Mutation_p.E289D	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E289D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GAGATGGACCCTCAATGAAGC	0.378																																					p.E289D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G867C	6						.						75.0	77.0	76.0					6																	27420471		2203	4300	6503	27528450	SO:0001583	missense	7738	exon6			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.867G>C	6.37:g.27420471C>G	ENSP00000211936:p.Glu289Asp		27528450	NM_007149	B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702070	0.30232	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.14766	2.48;2.48	4.99	0.539	0.17156	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000193	T	0.01421	0.0046	N	0.03253	-0.375	0.21064	N	0.999799	B	0.21753	0.06	B	0.21360	0.034	T	0.44019	-0.9355	10	0.42905	T	0.14	.	3.9964	0.09559	0.0:0.3871:0.1775:0.4354	.	289	Q99676	ZN184_HUMAN	D	289	ENSP00000211936:E289D;ENSP00000366636:E289D	ENSP00000211936:E289D	E	-	3	2	ZNF184	27528450	0.000000	0.05858	0.984000	0.44739	0.927000	0.56198	-4.388000	0.00242	0.511000	0.28236	0.455000	0.32223	GAG		0.378	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149	
ZBED9	114821	broad.mit.edu	37	6	28543015	28543015	+	Silent	SNP	A	A	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr6:28543015A>T	ENST00000452236.2	-	3	2084	c.1467T>A	c.(1465-1467)acT>acA	p.T489T	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.T489T(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATGAGTTGTTAGTTTGCATCC	0.428																																					p.T489T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1467A	6						.						133.0	130.0	131.0					6																	28543015		2203	4300	6503	28650994	SO:0001819	synonymous_variant	114821	exon3																														ENST00000452236.2:c.1467T>A	6.37:g.28543015A>T			28650994	NM_052923		Silent	SNP	ENST00000452236.2	37	CCDS34355.1																																																																																				0.428	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3		
TNXB	7148	broad.mit.edu	37	6	32030091	32030091	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr6:32030091G>T	ENST00000375244.3	-	20	7212	c.7011C>A	c.(7009-7011)taC>taA	p.Y2337*	TNXB_ENST00000375247.2_Nonsense_Mutation_p.Y2337*			P22105	TENX_HUMAN	tenascin XB	2399	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.Y2424*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCCATTCTTGTACTGGACCA	0.602																																					p.Y2337X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C7011A	6						.						53.0	60.0	58.0					6																	32030091		1368	2604	3972	32138069	SO:0001587	stop_gained	7148	exon20			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7011C>A	6.37:g.32030091G>T	ENSP00000364393:p.Tyr2337*		32138069	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Nonsense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	G	49	14.979559	0.99817	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	.	.	.	4.48	1.64	0.23874	.	0.123205	0.37178	N	0.002219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9486	0.30001	0.2801:0.0:0.7199:0.0	.	.	.	.	X	2337	.	ENSP00000364393:Y2337X	Y	-	3	2	TNXB	32138069	0.993000	0.37304	0.998000	0.56505	0.812000	0.45895	1.948000	0.40303	0.333000	0.23563	0.561000	0.74099	TAC		0.602	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105	
DNAH8	1769	broad.mit.edu	37	6	38819404	38819404	+	Missense_Mutation	SNP	T	T	G			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr6:38819404T>G	ENST00000359357.3	+	37	5023	c.4769T>G	c.(4768-4770)gTt>gGt	p.V1590G	DNAH8_ENST00000449981.2_Missense_Mutation_p.V1807G|DNAH8_ENST00000441566.1_Missense_Mutation_p.V1590G			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1590					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1590G(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTGATCCAGTTCTCCTGGAA	0.378																																					p.V1590G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T4769G	6						.						85.0	87.0	86.0					6																	38819404		2203	4300	6503	38927382	SO:0001583	missense	1769	exon37			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4769T>G	6.37:g.38819404T>G	ENSP00000352312:p.Val1590Gly		38927382	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	T	16.22	3.062707	0.55432	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.60672	0.17;0.17;0.17	5.66	5.66	0.87406	Dynein heavy chain, domain-2 (1);	0.127153	0.52532	D	0.000068	T	0.43919	0.1269	M	0.63428	1.95	0.80722	D	1	P	0.36837	0.571	B	0.42959	0.403	T	0.49753	-0.8906	10	0.32370	T	0.25	.	8.0158	0.30381	0.0:0.1943:0.0:0.8057	.	1590	Q96JB1	DYH8_HUMAN	G	1795;1795;1590;1590	ENSP00000333363:V1795G;ENSP00000352312:V1590G;ENSP00000402294:V1590G	ENSP00000333363:V1795G	V	+	2	0	DNAH8	38927382	0.998000	0.40836	1.000000	0.80357	0.963000	0.63663	1.659000	0.37387	2.152000	0.67230	0.254000	0.18369	GTT		0.378	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DST	667	broad.mit.edu	37	6	56362287	56362287	+	Missense_Mutation	SNP	C	C	T	rs376734906		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr6:56362287C>T	ENST00000361203.3	-	77	19160	c.19153G>A	c.(19153-19155)Gaa>Aaa	p.E6385K	DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.E6170K|DST_ENST00000370769.4_Missense_Mutation_p.E6496K|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.E4299K|DST_ENST00000370754.5_Missense_Mutation_p.E6674K|DST_ENST00000421834.2_Missense_Mutation_p.E4408K|DST_ENST00000244364.6_Missense_Mutation_p.E4082K			Q03001	DYST_HUMAN	dystonin	6385					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E6496K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCTCAATTTCGCCATGGAAC	0.483																																					p.E4082K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G12244A	6						.	C	LYS/GLU	0,3946		0,0,1973	67.0	66.0	67.0		12244	5.5	1.0	6		67	1,8353		0,1,4176	no	missense	DST	NM_015548.4	56	0,1,6149	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	4082/5172	56362287	1,12299	1973	4177	6150	56470246	SO:0001583	missense	667	exon63			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19153G>A	6.37:g.56362287C>T	ENSP00000354508:p.Glu6385Lys		56470246	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	24.7	4.561794	0.86335	0.0	1.2E-4	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.53	5.53	0.82687	.	0.000000	0.52532	D	0.000064	T	0.68513	0.3009	M	0.86178	2.8	0.33074	D	0.535711	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.998;0.954	T	0.69273	-0.5188	9	0.42905	T	0.14	.	19.4579	0.94903	0.0:1.0:0.0:0.0	.	4408;6496;6674;6494;4082	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	K	4082;6674;6496;4408;6170;4299;6385	ENSP00000244364:E4082K;ENSP00000359790:E6674K;ENSP00000359805:E6496K;ENSP00000400883:E4408K;ENSP00000393645:E6170K;ENSP00000359824:E4299K;ENSP00000354508:E6385K	ENSP00000244364:E4082K	E	-	1	0	DST	56470246	1.000000	0.71417	0.952000	0.39060	0.951000	0.60555	7.792000	0.85828	2.593000	0.87608	0.467000	0.42956	GAA		0.483	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
KHDC3L	154288	broad.mit.edu	37	6	74072874	74072874	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr6:74072874G>A	ENST00000370367.3	+	2	279	c.226G>A	c.(226-228)Gtg>Atg	p.V76M		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	76	KH; atypical.						RNA binding (GO:0003723)	p.V76M(1)									CTTGATTCACGTGAATCGATT	0.577																																					p.V76M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G226A	6						.						137.0	120.0	126.0					6																	74072874		2203	4300	6503	74129595	SO:0001583	missense	154288	exon2			AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.226G>A	6.37:g.74072874G>A	ENSP00000359392:p.Val76Met		74129595	NM_001017361	B2RNW7	Missense_Mutation	SNP	ENST00000370367.3	37	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210584	0.39102	.	.	ENSG00000203908	ENST00000370367	T	0.49139	0.79	3.42	1.41	0.22369	.	0.184475	0.26556	N	0.023715	T	0.39835	0.1093	L	0.52126	1.63	0.09310	N	1	D	0.89917	1.0	D	0.71870	0.975	T	0.16188	-1.0411	10	0.66056	D	0.02	-39.0048	5.146	0.14985	0.3112:0.0:0.6888:0.0	.	76	Q587J8	ECAT1_HUMAN	M	76	ENSP00000359392:V76M	ENSP00000359392:V76M	V	+	1	0	C6orf221	74129595	0.001000	0.12720	0.002000	0.10522	0.027000	0.11550	-0.024000	0.12435	0.351000	0.24027	0.655000	0.94253	GTG		0.577	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361	
IRAK1BP1	134728	broad.mit.edu	37	6	79577534	79577534	+	Missense_Mutation	SNP	G	G	C			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr6:79577534G>C	ENST00000369940.2	+	1	346	c.241G>C	c.(241-243)Gca>Cca	p.A81P		NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	81	Intrinsically disordered.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A81P(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		CAAGGAGGCGGCAGCCGAGGC	0.627																																					p.A81P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G241C	6						.						19.0	19.0	19.0					6																	79577534		2202	4299	6501	79634253	SO:0001583	missense	134728	exon1			AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.241G>C	6.37:g.79577534G>C	ENSP00000358956:p.Ala81Pro		79634253	NM_001010844		Missense_Mutation	SNP	ENST00000369940.2	37	CCDS34488.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954163	0.53293	.	.	ENSG00000146243	ENST00000369940	.	.	.	4.35	3.47	0.39725	.	0.219310	0.38436	N	0.001697	T	0.39989	0.1099	L	0.53249	1.67	0.30440	N	0.776272	P	0.44380	0.834	P	0.53518	0.728	T	0.23868	-1.0176	8	.	.	.	-6.5274	11.5204	0.50546	0.0:0.0:0.8205:0.1795	.	81	Q5VVH5	IKBP1_HUMAN	P	81	.	.	A	+	1	0	IRAK1BP1	79634253	0.997000	0.39634	0.354000	0.25760	0.313000	0.28021	3.855000	0.55957	0.994000	0.38892	0.561000	0.74099	GCA		0.627	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041296.2	XM_059729	
MMS22L	253714	broad.mit.edu	37	6	97702483	97702483	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr6:97702483G>A	ENST00000275053.4	-	10	1334	c.1069C>T	c.(1069-1071)Cat>Tat	p.H357Y	MMS22L_ENST00000369251.2_Missense_Mutation_p.H357Y	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	357					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.H357Y(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GATGCTACATGAGTAATAATC	0.338																																					p.H357Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1069T	6						.						118.0	119.0	119.0					6																	97702483		2203	4300	6503	97809204	SO:0001583	missense	253714	exon10				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1069C>T	6.37:g.97702483G>A	ENSP00000275053:p.His357Tyr		97809204	NM_198468	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124581	0.77436	.	.	ENSG00000146263	ENST00000275053;ENST00000369251;ENST00000510018;ENST00000482634	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.50205	0.1602	M	0.74258	2.255	0.52501	D	0.999951	D;D	0.61697	0.99;0.99	P;P	0.60609	0.877;0.877	T	0.56721	-0.7932	10	0.87932	D	0	-5.3487	16.6752	0.85277	0.0:0.0:1.0:0.0	.	357;357	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	Y	357;357;245;49	ENSP00000275053:H357Y;ENSP00000358254:H357Y;ENSP00000427288:H245Y;ENSP00000421225:H49Y	ENSP00000275053:H357Y	H	-	1	0	MMS22L	97809204	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.130000	0.64745	2.364000	0.80123	0.655000	0.94253	CAT		0.338	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468	
KIF25	3834	broad.mit.edu	37	6	168440794	168440794	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr6:168440794C>T	ENST00000443060.2	+	7	935	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	KIF25_ENST00000351261.3_Nonsense_Mutation_p.Q182*|KIF25_ENST00000354419.2_Nonsense_Mutation_p.Q182*			Q9UIL4	KIF25_HUMAN	kinesin family member 25	182	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q182*(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TGGAGGTCTGCAGCTCAGGGC	0.607																																					p.Q182X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C544T	6						.						99.0	87.0	91.0					6																	168440794		2203	4300	6503	168183643	SO:0001587	stop_gained	3834	exon6			AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.544C>T	6.37:g.168440794C>T	ENSP00000388878:p.Gln182*		168183643	NM_030615	O94775|Q5SZU9	Nonsense_Mutation	SNP	ENST00000443060.2	37	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555974	0.86231	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	.	.	.	4.09	1.08	0.20341	.	1.152660	0.06466	N	0.730311	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7312	4.6083	0.12389	0.3835:0.5065:0.0:0.11	.	.	.	.	X	182	.	ENSP00000252688:Q182X	Q	+	1	0	KIF25	168183643	1.000000	0.71417	0.009000	0.14445	0.011000	0.07611	1.887000	0.39698	-0.113000	0.11958	0.411000	0.27672	CAG		0.607	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1		
INTS1	26173	broad.mit.edu	37	7	1527074	1527075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr7:1527074_1527075insG	ENST00000404767.3	-	20	2612_2613	c.2527_2528insC	c.(2527-2529)cggfs	p.R843fs	INTS1_ENST00000389470.4_Frame_Shift_Ins_p.R986fs	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	843					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGGAGGCCTCCGGGGGGGCCCC	0.668																																					p.R843fs												.	.	0			c.2528_2529insC	7						.																																			1493601	SO:0001589	frameshift_variant	26173	exon20			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2528dupC	7.37:g.1527081_1527081dupG	ENSP00000385722:p.Arg843fs		1493600	NM_001080453	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Frame_Shift_Ins	INS	ENST00000404767.3	37	CCDS47526.1																																																																																				0.668	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		
AC005013.5	0	broad.mit.edu	37	7	28997486	28997486	+	lincRNA	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr7:28997486G>A	ENST00000436594.1	+	0	192				TRIL_ENST00000322982.3_RNA																							TGAGCACGTCGTGGGGGCTCG	0.652																																					p.H59H												.	.	0			c.C177T	7						.						74.0	80.0	78.0					7																	28997486		2065	4182	6247	28964011			9865	exon1																															7.37:g.28997486G>A			28964011	NM_014817		Silent	SNP	ENST00000436594.1	37																																																																																					0.652	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000327953.3		
SLC25A13	10165	broad.mit.edu	37	7	95814259	95814259	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr7:95814259C>T	ENST00000265631.5	-	10	1134	c.998G>A	c.(997-999)gGt>gAt	p.G333D	SLC25A13_ENST00000416240.2_Missense_Mutation_p.G334D|SLC25A13_ENST00000542654.1_Missense_Mutation_p.G225D			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	333					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.G333D(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AGAACCCAGACCAAACCTGTA	0.423																																					p.G333D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G998A	7						.						104.0	103.0	103.0					7																	95814259		2203	4300	6503	95652195	SO:0001583	missense	10165	exon10			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.998G>A	7.37:g.95814259C>T	ENSP00000265631:p.Gly333Asp		95652195	NM_014251	O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873480	0.51695	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.79033	-1.23;-1.23;-1.23	4.63	2.63	0.31362	Mitochondrial carrier domain (2);	0.131354	0.49916	D	0.000121	T	0.75874	0.3909	M	0.67700	2.07	0.36760	D	0.883256	B;B;B	0.22851	0.018;0.076;0.076	B;B;B	0.28305	0.053;0.088;0.088	T	0.79885	-0.1614	10	0.59425	D	0.04	-7.3334	13.427	0.61030	0.0:0.4419:0.5581:0.0	.	225;334;333	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	D	333;334;225	ENSP00000265631:G333D;ENSP00000400101:G334D;ENSP00000440484:G225D	ENSP00000265631:G333D	G	-	2	0	SLC25A13	95652195	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.957000	0.56730	1.285000	0.44548	0.591000	0.81541	GGT		0.423	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251	
METTL2B	55798	broad.mit.edu	37	7	128119379	128119380	+	Missense_Mutation	DNP	TG	TG	CC	rs2896399		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	TG	TG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr7:128119379_128119380TG>CC	ENST00000262432.8	+	3	407_408	c.370_371TG>CC	c.(370-372)TGt>CCt	p.C124P	RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000480046.1_Missense_Mutation_p.C59P	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	124			C -> R (in dbSNP:rs2896399).		tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)	p.C124R(1)|p.C124>?(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GAGTGAAGTATGTGAATGTAGA	0.411																																					.												.	.	2	Substitution - Missense(1)|Complex(1)	large_intestine(1)|prostate(1)	c.370_371CC	7						.																																			127906616	SO:0001583	missense	55798	exon3			AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	Exception_encountered	7.37:g.128119379_128119380delinsCC	ENSP00000262432:p.Cys124Pro		127906615	NM_018396	B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	DNP	ENST00000262432.8	37	CCDS5803.2																																																																																				0.411	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396	
PRSS55	203074	broad.mit.edu	37	8	10388961	10388961	+	Silent	SNP	C	C	T	rs560455180		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr8:10388961C>T	ENST00000328655.3	+	3	544	c.504C>T	c.(502-504)ctC>ctT	p.L168L	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.L168L	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	168	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.L168L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CCATCAAGCTCGATGACCTGA	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20137	0.0		0.0	False		,,,				2504	0.0				p.L168L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C504T	8						.						123.0	106.0	112.0					8																	10388961		2203	4300	6503	10426371	SO:0001819	synonymous_variant	203074	exon3			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.504C>T	8.37:g.10388961C>T			10426371	NM_001197020	E5RJX5	Silent	SNP	ENST00000328655.3	37	CCDS5976.1																																																																																				0.562	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464	
RIMS2	9699	broad.mit.edu	37	8	104898096	104898096	+	Silent	SNP	T	T	G			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr8:104898096T>G	ENST00000436393.2	+	2	844	c.603T>G	c.(601-603)tcT>tcG	p.S201S	RIMS2_ENST00000507740.1_Silent_p.S231S|RIMS2_ENST00000262231.10_Silent_p.S231S|RIMS2_ENST00000406091.3_Silent_p.S423S			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	454					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.S231S(3)|p.S459S(2)|p.S201S(2)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCAAGTTCTTATGCACAAA	0.478										HNSCC(12;0.0054)																											p.S423S												.	.	7	Substitution - coding silent(7)	large_intestine(7)	c.T1269G	8						.						85.0	80.0	81.0					8																	104898096		1935	4137	6072	104967272	SO:0001819	synonymous_variant	9699	exon4			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.603T>G	8.37:g.104898096T>G			104967272	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37																																																																																					0.478	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
ANK1	286	broad.mit.edu	37	8	41546073	41546073	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr8:41546073G>A	ENST00000347528.4	-	34	4222	c.4139C>T	c.(4138-4140)aCg>aTg	p.T1380M	ANK1_ENST00000352337.4_Missense_Mutation_p.T1380M|ANK1_ENST00000265709.8_Missense_Mutation_p.T1421M|ANK1_ENST00000379758.2_Missense_Mutation_p.T1380M|ANK1_ENST00000396945.1_Missense_Mutation_p.T1380M|ANK1_ENST00000396942.1_Missense_Mutation_p.T1380M|ANK1_ENST00000289734.7_Missense_Mutation_p.T1380M	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1380					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T1380M(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGCCAGGGGCGTCGGGGTCCT	0.567																																					p.T1380M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4139T	8						.						127.0	97.0	107.0					8																	41546073		2203	4300	6503	41665230	SO:0001583	missense	286	exon34			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4139C>T	8.37:g.41546073G>A	ENSP00000339620:p.Thr1380Met		41665230	NM_020475	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.903783	0.52333	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.67698	-0.27;-0.28;-0.25;-0.23;-0.25;-0.24;-0.27	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.79896	0.4525	M	0.61703	1.905	0.80722	D	1	D;D;P;D;D;P	0.89917	1.0;1.0;0.81;0.996;1.0;0.837	D;D;B;D;D;B	0.97110	1.0;0.999;0.282;0.927;1.0;0.195	T	0.80919	-0.1167	10	0.59425	D	0.04	.	16.2411	0.82409	0.0:0.0:1.0:0.0	.	1421;1380;1380;1380;1380;696	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	M	1380;1380;1380;1380;1380;1380;1421;1380	ENSP00000339620:T1380M;ENSP00000289734:T1380M;ENSP00000369082:T1380M;ENSP00000380149:T1380M;ENSP00000380147:T1380M;ENSP00000309131:T1380M;ENSP00000265709:T1421M	ENSP00000265709:T1421M	T	-	2	0	ANK1	41665230	1.000000	0.71417	0.521000	0.27850	0.052000	0.14988	7.594000	0.82698	2.502000	0.84385	0.462000	0.41574	ACG		0.567	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
WWP1	11059	broad.mit.edu	37	8	87423872	87423872	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr8:87423872C>A	ENST00000517970.1	+	9	1137	c.830C>A	c.(829-831)aCt>aAt	p.T277N	WWP1_ENST00000341922.2_Missense_Mutation_p.T147N|WWP1_ENST00000349423.2_Missense_Mutation_p.T59N|WWP1_ENST00000265428.4_Missense_Mutation_p.T277N	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	277					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T277N(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ACTAGTACTACTGTTGAAGAT	0.408																																					p.T277N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C830A	8						.						117.0	111.0	113.0					8																	87423872		2203	4297	6500	87492988	SO:0001583	missense	11059	exon9			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.830C>A	8.37:g.87423872C>A	ENSP00000427793:p.Thr277Asn		87492988	NM_007013	O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686508	0.29962	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.46063	0.9;0.9;0.95;0.88	5.73	5.73	0.89815	.	0.527164	0.18278	N	0.146104	T	0.23926	0.0579	N	0.08118	0	0.09310	N	1	B;B	0.28880	0.226;0.026	B;B	0.31686	0.134;0.015	T	0.16070	-1.0415	10	0.15066	T	0.55	.	12.4015	0.55416	0.0:0.9231:0.0:0.0769	.	59;277	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	N	277;277;147;59	ENSP00000427793:T277N;ENSP00000265428:T277N;ENSP00000340564:T147N;ENSP00000342665:T59N	ENSP00000265428:T277N	T	+	2	0	WWP1	87492988	0.076000	0.21285	0.009000	0.14445	0.855000	0.48748	2.227000	0.42972	2.718000	0.92993	0.650000	0.86243	ACT		0.408	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013	
FAM135B	51059	broad.mit.edu	37	8	139164068	139164068	+	Missense_Mutation	SNP	G	G	A	rs148073315	byFrequency	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr8:139164068G>A	ENST00000395297.1	-	13	2820	c.2650C>T	c.(2650-2652)Cgc>Tgc	p.R884C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	884								p.R884C(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCTATGACGCGTGGTATTTTT	0.468										HNSCC(54;0.14)																											p.R884C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2650T	8						.	G	CYS/ARG	8,4398	14.3+/-33.2	0,8,2195	115.0	107.0	110.0		2650	1.5	0.0	8	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FAM135B	NM_015912.3	180	0,9,6494	AA,AG,GG		0.0116,0.1816,0.0692	benign	884/1407	139164068	9,12997	2203	4300	6503	139233250	SO:0001583	missense	51059	exon13			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2650C>T	8.37:g.139164068G>A	ENSP00000378710:p.Arg884Cys		139233250	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	9.024	0.985648	0.18889	0.001816	1.16E-4	ENSG00000147724	ENST00000395297	T	0.13901	2.55	5.33	1.51	0.23008	.	1.043410	0.07411	N	0.892363	T	0.08758	0.0217	N	0.17082	0.46	0.09310	N	1	B;B;B	0.20887	0.049;0.005;0.001	B;B;B	0.12156	0.007;0.003;0.001	T	0.37842	-0.9688	10	0.42905	T	0.14	0.2605	6.5085	0.22208	0.4018:0.0:0.5982:0.0	.	884;884;884	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	C	884	ENSP00000378710:R884C	ENSP00000276737:R884C	R	-	1	0	FAM135B	139233250	0.070000	0.21116	0.029000	0.17559	0.012000	0.07955	0.724000	0.25954	0.237000	0.21200	-0.768000	0.03414	CGC		0.468	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
INVS	27130	broad.mit.edu	37	9	103054707	103054707	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr9:103054707A>G	ENST00000262457.2	+	14	2353	c.2168A>G	c.(2167-2169)gAg>gGg	p.E723G	INVS_ENST00000541287.1_Missense_Mutation_p.E627G|INVS_ENST00000262456.2_Missense_Mutation_p.E723G	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	723					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.E723G(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CCCTCTGTTGAGAAGTCCAGA	0.537																																					p.E723G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2168G	9						.						66.0	58.0	61.0					9																	103054707		2203	4300	6503	102094528	SO:0001583	missense	27130	exon14			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.2168A>G	9.37:g.103054707A>G	ENSP00000262457:p.Glu723Gly		102094528	NM_183245	A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.652816	0.47362	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.46819	0.87;0.86;1.03	5.25	4.11	0.48088	.	0.681568	0.14461	N	0.318191	T	0.34629	0.0904	L	0.27053	0.805	0.18873	N	0.999987	B;B;P	0.40731	0.264;0.085;0.728	B;B;B	0.39339	0.085;0.039;0.297	T	0.17379	-1.0371	10	0.72032	D	0.01	.	7.8399	0.29393	0.9054:0.0:0.0946:0.0	.	627;723;723	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	G	723;627;723	ENSP00000262457:E723G;ENSP00000444454:E627G;ENSP00000262456:E723G	ENSP00000262456:E723G	E	+	2	0	INVS	102094528	0.084000	0.21492	0.580000	0.28601	0.995000	0.86356	0.891000	0.28309	0.946000	0.37632	0.528000	0.53228	GAG		0.537	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425	
REXO4	57109	broad.mit.edu	37	9	136278032	136278032	+	Silent	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr9:136278032G>A	ENST00000371942.3	-	3	781	c.582C>T	c.(580-582)atC>atT	p.I194I	REXO4_ENST00000371935.2_Intron|REXO4_ENST00000478037.1_5'UTR	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	194					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I194I(1)		kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		CGTCAAACCAGATGTCTTCCC	0.572																																					p.I194I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C582T	9						.						61.0	52.0	55.0					9																	136278032		2203	4300	6503	135267853	SO:0001819	synonymous_variant	57109	exon3			AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"""Xenopus prevents mitotic catatrophe 2 homolog"", ""XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"""	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.582C>T	9.37:g.136278032G>A			135267853	NM_020385	B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Silent	SNP	ENST00000371942.3	37	CCDS6969.1																																																																																				0.572	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054899.1		
OBP2A	29991	broad.mit.edu	37	9	138439061	138439061	+	Missense_Mutation	SNP	C	C	T	rs139660402		TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr9:138439061C>T	ENST00000539850.1	+	3	270	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	OBP2A_ENST00000371776.1_Missense_Mutation_p.R82W|OBP2A_ENST00000340780.3_Missense_Mutation_p.R82W|OBP2A_ENST00000342114.4_Missense_Mutation_p.A37V			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	82					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.R82W(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		AATCCTGATGCGGAAGACGGA	0.642													.|||	1	0.000199681	0.0	0.0	5008	,	,		12572	0.0		0.0	False		,,,				2504	0.001				p.R82W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C244T	9						.	C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	92.0	85.0	87.0		244	-5.1	0.0	9	dbSNP_134	87	0,8600		0,0,4300	no	missense	OBP2A	NM_014582.2	101	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	82/171	138439061	3,13003	2203	4300	6503	137578882	SO:0001583	missense	29991	exon3			AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.244C>T	9.37:g.138439061C>T	ENSP00000441028:p.Arg82Trp		137578882	NM_014582	Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	ENST00000539850.1	37	CCDS6992.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	2.730|2.730	-0.264518|-0.264518	0.05754|0.05754	6.81E-4|6.81E-4	0.0|0.0	ENSG00000122136|ENSG00000122136	ENST00000342114|ENST00000340780;ENST00000371776;ENST00000539850	T|T;T;T	0.08720|0.08984	3.06|3.03;3.03;3.03	2.55|2.55	-5.1|-5.1	0.02911|0.02911	.|Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.|1.447270	.|0.04558	.|N	.|0.391179	T|T	0.05364|0.05364	0.0142|0.0142	N|N	0.21448|0.21448	0.665|0.665	0.09310|0.09310	N|N	1|1	B|B;B	0.25904|0.22003	0.137|0.004;0.063	B|B;B	0.17433|0.19391	0.018|0.005;0.025	T|T	0.33163|0.33163	-0.9879|-0.9879	9|10	0.25751|0.62326	T|D	0.34|0.03	-9.8541|-9.8541	2.6431|2.6431	0.04976|0.04976	0.1359:0.1743:0.4629:0.2269|0.1359:0.1743:0.4629:0.2269	.|.	37|82;82	Q5T8A4|Q5T8A5;Q9NY56	.|.;OBP2A_HUMAN	V|W	37|82	ENSP00000340950:A37V|ENSP00000342097:R82W;ENSP00000360841:R82W;ENSP00000441028:R82W	ENSP00000340950:A37V|ENSP00000342097:R82W	A|R	+|+	2|1	0|2	OBP2A|OBP2A	137578882|137578882	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.243000|-1.243000	0.02905|0.02905	-2.585000|-2.585000	0.00460|0.00460	-2.188000|-2.188000	0.00313|0.00313	GCG|CGG		0.642	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397904.1	NM_014582	
FRMPD1	22844	broad.mit.edu	37	9	37740726	37740726	+	Missense_Mutation	SNP	C	C	T	rs147406379	byFrequency	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr9:37740726C>T	ENST00000539465.1	+	15	2794	c.2201C>T	c.(2200-2202)cCg>cTg	p.P734L	FRMPD1_ENST00000536622.1_Missense_Mutation_p.P556L|FRMPD1_ENST00000377765.3_Missense_Mutation_p.P734L|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.P603L			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	734						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.P734L(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGGGGAGCCCCGCCAGCCTGG	0.652													C|||	17	0.00339457	0.0083	0.0	5008	,	,		17536	0.0		0.001	False		,,,				2504	0.0051				p.P734L												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C2201T	9						.	C	LEU/PRO	22,4384	29.0+/-57.7	0,22,2181	28.0	26.0	27.0		2201	-4.1	0.0	9	dbSNP_134	27	5,8593	4.3+/-15.6	0,5,4294	yes	missense	FRMPD1	NM_014907.2	98	0,27,6475	TT,TC,CC		0.0582,0.4993,0.2076	benign	734/1579	37740726	27,12977	2203	4299	6502	37730726	SO:0001583	missense	22844	exon15			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2201C>T	9.37:g.37740726C>T	ENSP00000444411:p.Pro734Leu		37730726	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	3.131	-0.178430	0.06380	0.004993	5.82E-4	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.17370	3.26;3.26;2.28;2.29	5.53	-4.1	0.03940	.	0.715942	0.13400	N	0.390716	T	0.04497	0.0123	N	0.12746	0.255	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.06405	0.002;0.002	T	0.32981	-0.9886	10	0.25751	T	0.34	0.0257	6.0073	0.19553	0.1601:0.2757:0.0:0.5642	.	603;734	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	L	734;734;556;603	ENSP00000366995:P734L;ENSP00000444411:P734L;ENSP00000437762:P556L;ENSP00000444804:P603L	ENSP00000366995:P734L	P	+	2	0	FRMPD1	37730726	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-1.572000	0.02136	-0.533000	0.06323	-0.136000	0.14681	CCG		0.652	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
NTRK2	4915	broad.mit.edu	37	9	87549184	87549184	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr9:87549184G>A	ENST00000323115.4	+	13	2046	c.1693G>A	c.(1693-1695)Gac>Aac	p.D565N	NTRK2_ENST00000376214.1_Missense_Mutation_p.D581N|NTRK2_ENST00000376213.1_Missense_Mutation_p.D565N|NTRK2_ENST00000277120.3_Missense_Mutation_p.D581N			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	565	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)	p.D581N(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TCCTGAGCAGGACAAGATCTT	0.408										TSP Lung(25;0.17)																											p.D581N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1741A	9						.						91.0	76.0	81.0					9																	87549184		2203	4300	6503	86739004	SO:0001583	missense	4915	exon17			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1693G>A	9.37:g.87549184G>A	ENSP00000314586:p.Asp565Asn		86739004	NM_006180	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617259	0.87359	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000277120;ENST00000323115	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.090767	0.85682	D	0.000000	D	0.86727	0.6002	N	0.26092	0.79	0.80722	D	1	B;B;P	0.47484	0.043;0.035;0.896	B;B;P	0.46172	0.026;0.015;0.506	D	0.87701	0.2560	10	0.59425	D	0.04	.	19.6982	0.96039	0.0:0.0:1.0:0.0	.	565;581;611	Q16620;Q16620-4;Q59GJ1	NTRK2_HUMAN;.;.	N	581;565;581;565	ENSP00000365387:D581N;ENSP00000365386:D565N;ENSP00000277120:D581N;ENSP00000314586:D565N	ENSP00000277120:D581N	D	+	1	0	NTRK2	86739004	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.894000	0.99253	0.655000	0.94253	GAC		0.408	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1		
SEC16A	9919	broad.mit.edu	37	9	139371377	139371377	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chr9:139371377G>T	ENST00000371706.3	-	1	190	c.157C>A	c.(157-159)Ccc>Acc	p.P53T	SEC16A_ENST00000431893.2_Missense_Mutation_p.P53T|SEC16A_ENST00000313050.7_Missense_Mutation_p.P231T|SEC16A_ENST00000290037.6_Missense_Mutation_p.P53T			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	53					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.P231T(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCAGGGCAGGGTGAACGATGT	0.657																																					p.P231T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C691A	9						.						24.0	28.0	27.0					9																	139371377		2128	4216	6344	138491198	SO:0001583	missense	9919	exon3			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.157C>A	9.37:g.139371377G>T	ENSP00000360771:p.Pro53Thr		138491198	NM_014866	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37		.	.	.	.	.	.	.	.	.	.	G	16.82	3.228094	0.58777	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.28255	1.71;1.62;1.62;1.63	5.07	4.17	0.49024	.	0.099589	0.44688	D	0.000429	T	0.48960	0.1529	M	0.67953	2.075	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.996	P;P;P	0.61592	0.78;0.891;0.891	T	0.51779	-0.8662	10	0.59425	D	0.04	-12.5992	12.9574	0.58438	0.0784:0.0:0.9216:0.0	.	231;53;53	F1T0I1;O15027-5;O15027-4	.;.;.	T	231;53;53;53	ENSP00000325827:P231T;ENSP00000360771:P53T;ENSP00000290037:P53T;ENSP00000387583:P53T	ENSP00000290037:P53T	P	-	1	0	SEC16A	138491198	0.993000	0.37304	0.020000	0.16555	0.002000	0.02628	2.552000	0.45828	1.290000	0.44636	0.655000	0.94253	CCC		0.657	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459	
CACNA1F	778	broad.mit.edu	37	X	49063212	49063212	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chrX:49063212C>T	ENST00000376265.2	-	45	5430	c.5369G>A	c.(5368-5370)cGt>cAt	p.R1790H	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1779H|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1725H	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1790					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R1790H(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGCAGCAGACGGCGGCGTGG	0.612																																					p.R1790H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5369A	X						.						45.0	45.0	45.0					X																	49063212		2203	4300	6503	48950156	SO:0001583	missense	778	exon45			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5369G>A	X.37:g.49063212C>T	ENSP00000365441:p.Arg1790His		48950156	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045488	0.75846	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	T;T;T	0.61392	0.11;0.11;0.11	5.6	5.6	0.85130	.	0.767914	0.12415	N	0.470940	T	0.74230	0.3689	M	0.69358	2.11	0.51233	D	0.99991	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.987	T	0.66709	-0.5855	10	0.25106	T	0.35	.	15.8861	0.79251	0.0:1.0:0.0:0.0	.	1779;1790	F5CIQ9;O60840	.;CAC1F_HUMAN	H	1725;1779;1790	ENSP00000365427:R1725H;ENSP00000321618:R1779H;ENSP00000365441:R1790H	ENSP00000321618:R1779H	R	-	2	0	CACNA1F	48950156	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.949000	0.56668	2.350000	0.79820	0.529000	0.55759	CGT		0.612	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	
PFKFB1	5207	broad.mit.edu	37	X	54989791	54989791	+	Missense_Mutation	SNP	G	G	A	rs150213595	byFrequency	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chrX:54989791G>A	ENST00000375006.3	-	2	192	c.122C>T	c.(121-123)tCc>tTc	p.S41F	PFKFB1_ENST00000545676.1_Intron|PFKFB1_ENST00000374992.2_Missense_Mutation_p.S41F	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	41	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)	p.S41F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CATTGTGGGGGAATTGGTAAA	0.438																																					p.S41F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C122T	X						.	G	PHE/SER	0,3835		0,0,0,1632,571	139.0	117.0	124.0		122	5.2	1.0	X	dbSNP_134	124	1,6727		0,0,1,2428,1871	no	missense	PFKFB1	NM_002625.2	155	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	probably-damaging	41/472	54989791	1,10562	2203	4300	6503	55006516	SO:0001583	missense	5207	exon2				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.122C>T	X.37:g.54989791G>A	ENSP00000364145:p.Ser41Phe		55006516	NM_002625	B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062094	0.55432	0.0	1.49E-4	ENSG00000158571	ENST00000375006;ENST00000374992	T	0.47177	0.85	5.24	5.24	0.73138	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	T	0.66519	0.2797	M	0.73430	2.235	0.30373	N	0.782711	D;B	0.59767	0.986;0.032	P;B	0.60541	0.876;0.035	T	0.70163	-0.4947	10	0.72032	D	0.01	-13.282	16.8608	0.86018	0.0:0.0:1.0:0.0	.	41;41	Q4VBA9;P16118	.;F261_HUMAN	F	41	ENSP00000364131:S41F	ENSP00000364131:S41F	S	-	2	0	PFKFB1	55006516	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.736000	0.62059	2.328000	0.79073	0.600000	0.82982	TCC		0.438	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1		
PCDH11X	27328	broad.mit.edu	37	X	91131976	91131976	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chrX:91131976A>G	ENST00000373094.1	+	2	1582	c.737A>G	c.(736-738)cAc>cGc	p.H246R	PCDH11X_ENST00000361724.1_Missense_Mutation_p.H246R|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H246R|PCDH11X_ENST00000504220.2_Missense_Mutation_p.H246R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H246R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H246R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.H246R|PCDH11X_ENST00000395337.2_Missense_Mutation_p.H246R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H246R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	246	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H246R(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AATGACAACCACCCAGTCTTT	0.433																																					p.H246R	NSCLC(38;925 1092 2571 38200 45895)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A737G	X						.						156.0	138.0	144.0					X																	91131976		2203	4299	6502	91018632	SO:0001583	missense	27328	exon2			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.737A>G	X.37:g.91131976A>G	ENSP00000362186:p.His246Arg		91018632	NM_032968	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	0.644	-0.812140	0.02798	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23	4.63	-2.89	0.05665	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.364588	0.31335	N	0.007836	T	0.27098	0.0664	N	0.04724	-0.175	0.26959	N	0.965867	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001;0.0;0.001;0.001	T	0.27054	-1.0085	10	0.02654	T	1	.	13.4862	0.61366	0.2249:0.0:0.7751:0.0	.	246;246;246;246;246;246;246;246	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	R	246	ENSP00000378746:H246R;ENSP00000362186:H246R;ENSP00000362189:H246R;ENSP00000355040:H246R;ENSP00000362180:H246R;ENSP00000423762:H246R;ENSP00000355105:H246R;ENSP00000384758:H246R;ENSP00000298274:H246R	ENSP00000298274:H246R	H	+	2	0	PCDH11X	91018632	0.253000	0.23982	0.010000	0.14722	0.559000	0.35586	0.900000	0.28431	-1.436000	0.01970	0.441000	0.28932	CAC		0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
PCDH11X	27328	broad.mit.edu	37	X	91133858	91133858	+	Silent	SNP	G	G	A			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chrX:91133858G>A	ENST00000373094.1	+	2	3464	c.2619G>A	c.(2617-2619)aaG>aaA	p.K873K	PCDH11X_ENST00000361724.1_Silent_p.K873K|PCDH11X_ENST00000361655.2_Silent_p.K873K|PCDH11X_ENST00000504220.2_Silent_p.K873K|PCDH11X_ENST00000373097.1_Silent_p.K873K|PCDH11X_ENST00000373088.1_Silent_p.K873K|PCDH11X_ENST00000298274.8_Silent_p.K873K|PCDH11X_ENST00000395337.2_Silent_p.K873K|PCDH11X_ENST00000406881.1_Silent_p.K873K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	873	Poly-Lys.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K873K(5)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						agaaaaagaagaagaagCATT	0.403																																					p.K873K	NSCLC(38;925 1092 2571 38200 45895)											.	.	5	Substitution - coding silent(5)	lung(3)|large_intestine(2)	c.G2619A	X						.						71.0	66.0	68.0					X																	91133858		2203	4300	6503	91020514	SO:0001819	synonymous_variant	27328	exon2			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2619G>A	X.37:g.91133858G>A			91020514	NM_032968	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	CCDS14461.1																																																																																				0.403	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
AFF2	2334	broad.mit.edu	37	X	147743553	147743553	+	Missense_Mutation	SNP	T	T	G			TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-A6-3810-01A-01W-0995-10	TCGA-A6-3810-11A-01W-0995-10	g.chrX:147743553T>G	ENST00000370460.2	+	3	784	c.305T>G	c.(304-306)gTg>gGg	p.V102G	AFF2_ENST00000370458.1_Missense_Mutation_p.V98G|AFF2_ENST00000370457.5_Missense_Mutation_p.V98G|AFF2_ENST00000342251.3_Missense_Mutation_p.V98G	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	102					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.V102G(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAATTCTGTGCCCCAGAAT	0.398																																					p.V102G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T305G	X						.						143.0	145.0	144.0					X																	147743553		2203	4300	6503	147551245	SO:0001583	missense	2334	exon3			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.305T>G	X.37:g.147743553T>G	ENSP00000359489:p.Val102Gly		147551245	NM_002025	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.140810	0.37825	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.63	4.43	0.53597	.	0.367493	0.27210	N	0.020405	T	0.60301	0.2258	L	0.33339	1.005	0.80722	D	1	P;P;P;P;P;B	0.38677	0.589;0.589;0.589;0.589;0.642;0.196	B;B;B;B;B;B	0.43445	0.295;0.295;0.295;0.295;0.42;0.154	T	0.59690	-0.7407	10	0.56958	D	0.05	.	11.0272	0.47751	0.0:0.0746:0.0:0.9254	.	102;98;98;98;102;98	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	G	102;98;98;98	ENSP00000359489:V102G;ENSP00000359486:V98G;ENSP00000345459:V98G;ENSP00000359487:V98G	ENSP00000345459:V98G	V	+	2	0	AFF2	147551245	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	3.559000	0.53756	0.726000	0.32339	0.486000	0.48141	GTG		0.398	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
