#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TMEM51	55092	broad.mit.edu	37	1	15541865	15541865	+	Silent	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:15541865C>T	ENST00000428417.1	+	2	728	c.282C>T	c.(280-282)ggC>ggT	p.G94G	TMEM51_ENST00000434578.2_Silent_p.G94G|TMEM51_ENST00000376014.3_Silent_p.G94G|TMEM51_ENST00000376008.2_Silent_p.G94G|TMEM51_ENST00000400796.3_Silent_p.G94G	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	94						integral component of membrane (GO:0016021)		p.G94G(1)		breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		AGCGGCAGGGCGAGGACCTGG	0.652																																						uc001avw.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(280-282)GGC>GGT		transmembrane protein 51							44.0	38.0	40.0					1																	15541865		2203	4300	6503	SO:0001819	synonymous_variant	55092					integral to membrane		g.chr1:15541865C>T	AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.282C>T	1.37:g.15541865C>T						TMEM51_uc010obk.1_Silent_p.G94G|TMEM51_uc001avz.2_Silent_p.G94G|TMEM51_uc001avy.2_Silent_p.G94G|TMEM51_uc001avx.2_Silent_p.G94G	p.G94G	NM_001136216	NP_001129688	Q9NW97	TMM51_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)	3	801	+		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)	94					A8K819	Silent	SNP	ENST00000428417.1	37	c.282C>T	CCDS154.1																																																																																				PASS	0.652	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005699.3	NM_018022		15	17	15	17	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19454211	19454211	+	Missense_Mutation	SNP	C	C	T	rs568050379		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:19454211C>T	ENST00000375254.3	-	63	9161	c.9134G>A	c.(9133-9135)cGc>cAc	p.R3045H	UBR4_ENST00000375267.2_Missense_Mutation_p.R3045H|UBR4_ENST00000375226.2_Missense_Mutation_p.R3021H|UBR4_ENST00000375217.2_Missense_Mutation_p.R3038H	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3045					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R3045H(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGGGCGCTGCGCTCATTCTT	0.478																																						uc001bbi.2																			1	Substitution - Missense(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(9133-9135)CGC>CAC		retinoblastoma-associated factor 600							142.0	138.0	139.0					1																	19454211		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19454211C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9134G>A	1.37:g.19454211C>T	ENSP00000364403:p.Arg3045His					UBR4_uc001bbk.1_Missense_Mutation_p.R692H	p.R3045H	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	63	9138	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3045					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.9134G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920230	0.92249	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.38401	1.16;1.16;1.14;1.14	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.60792	0.2296	M	0.73217	2.22	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.62685	-0.6802	10	0.87932	D	0	.	18.4391	0.90658	0.0:1.0:0.0:0.0	.	3045	Q5T4S7	UBR4_HUMAN	H	3045;3045;3038;3021;653;1731	ENSP00000364403:R3045H;ENSP00000364416:R3045H;ENSP00000364365:R3038H;ENSP00000364374:R3021H	ENSP00000364365:R3038H	R	-	2	0	UBR4	19326798	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.699000	0.92147	0.591000	0.81541	CGC		PASS	0.478	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		6	155	6	155	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19478225	19478226	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:19478225_19478226CA>AT	ENST00000375254.3	-	48	7151_7152	c.7124_7125TG>AT	c.(7123-7125)aTG>aAT	p.M2375N	UBR4_ENST00000375267.2_Missense_Mutation_p.M2375N|UBR4_ENST00000375226.2_Missense_Mutation_p.M2375N|UBR4_ENST00000375217.2_Missense_Mutation_p.M2375N	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2375					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M2375N(1)|p.M2375K(1)|p.M2375I(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGTTGAGCTGCATAGTTCTGCC	0.505																																						uc001bbi.2																			3	Substitution - Missense(3)		lung(3)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(7123-7125)ATG>ATT|c.(7123-7125)ATG>AAG		retinoblastoma-associated factor 600																																				SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19478225C>A|g.chr1:19478226A>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7124_7125delinsAT	1.37:g.19478225_19478226delinsAT	ENSP00000364403:p.Met2375Asn					UBR4_uc001bbk.1_Missense_Mutation_p.M29I|UBR4_uc001bbl.1_Missense_Mutation_p.M312I|UBR4_uc001bbm.1_Missense_Mutation_p.M1587I|UBR4_uc001bbk.1_Missense_Mutation_p.M29K|UBR4_uc001bbl.1_Missense_Mutation_p.M312K|UBR4_uc001bbm.1_Missense_Mutation_p.M1587K	p.M2375I|p.M2375K	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	48	7129|7128	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2375					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.7125G>T|c.7124T>A	CCDS189.1																																																																																				PASS	0.505	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		71	113|114	71	113	---	---	---	---
KDM1A	23028	broad.mit.edu	37	1	23397826	23397826	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:23397826C>G	ENST00000356634.3	+	11	1599	c.1450C>G	c.(1450-1452)Cac>Gac	p.H484D	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.H508D|KDM1A_ENST00000400181.4_Missense_Mutation_p.H508D	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	484	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.H484D(1)|p.H508D(1)		breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GAAAAGCAAACACAGGGATCT	0.403																																						uc001bgi.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(1450-1452)CAC>GAC		lysine-specific histone demethylase 1 isoform b							127.0	125.0	126.0					1																	23397826		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23397826C>G	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1450C>G	1.37:g.23397826C>G	ENSP00000349049:p.His484Asp					KDM1A_uc001bgj.2_Missense_Mutation_p.H508D	p.H484D	NM_015013	NP_055828	O60341	KDM1A_HUMAN			11	1599	+			484			Potential.|Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.1450C>G	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321766	0.41096	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.08008	3.14;3.14;3.14	5.64	5.64	0.86602	Amine oxidase (1);	0.047357	0.85682	D	0.000000	T	0.05502	0.0145	N	0.04508	-0.205	0.80722	D	1	B;B	0.28880	0.112;0.226	B;B	0.33196	0.047;0.159	T	0.50285	-0.8846	10	0.12103	T	0.63	-14.1877	18.6845	0.91558	0.0:1.0:0.0:0.0	.	508;484	O60341-2;O60341	.;KDM1A_HUMAN	D	484;508;508	ENSP00000349049:H484D;ENSP00000383042:H508D;ENSP00000439072:H508D	ENSP00000349049:H484D	H	+	1	0	KDM1A	23270413	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.666000	0.90696	0.655000	0.94253	CAC		PASS	0.403	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		64	120	64	120	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62483535	62483535	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:62483535A>G	ENST00000371158.2	+	29	3989	c.3875A>G	c.(3874-3876)aAt>aGt	p.N1292S	INADL_ENST00000545929.1_Intron|INADL_ENST00000316485.6_Missense_Mutation_p.N1292S|INADL_ENST00000543708.1_Missense_Mutation_p.N76S	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1292	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.N1292S(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAGATAAACAATCAGATTCTG	0.333																																						uc001dab.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3874-3876)AAT>AGT		InaD-like							112.0	103.0	106.0					1																	62483535		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62483535A>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3875A>G	1.37:g.62483535A>G	ENSP00000360200:p.Asn1292Ser					INADL_uc009waf.1_Missense_Mutation_p.N1292S|INADL_uc001daa.2_Missense_Mutation_p.N1292S|INADL_uc001dad.3_Missense_Mutation_p.N989S|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Missense_Mutation_p.N76S|INADL_uc009wag.2_Missense_Mutation_p.N76S|INADL_uc010oou.1_Intron	p.N1292S	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			29	3989	+			1292			PDZ 7.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.3875A>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760821	0.49468	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.35	5.35	0.76521	PDZ/DHR/GLGF (4);	0.065941	0.64402	D	0.000019	T	0.24890	0.0604	N	0.13043	0.29	0.80722	D	1	B;B;B;B;B	0.28258	0.012;0.205;0.108;0.116;0.154	B;B;B;B;B	0.39805	0.039;0.174;0.132;0.31;0.043	T	0.10989	-1.0606	10	0.13853	T	0.58	.	15.3286	0.74186	1.0:0.0:0.0:0.0	.	76;751;1292;1292;1292	B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;INADL_HUMAN;.	S	1292;1292;1292;1292;76;76	ENSP00000360200:N1292S;ENSP00000326199:N1292S;ENSP00000307496:N76S;ENSP00000445790:N76S	ENSP00000307496:N76S	N	+	2	0	INADL	62256123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.785000	0.62418	2.029000	0.59856	0.482000	0.46254	AAT		PASS	0.333	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		64	103	64	103	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70225900	70225900	+	Missense_Mutation	SNP	C	C	T	rs150507629		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:70225900C>T	ENST00000035383.5	+	1	43	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.R43W|LRRC7_ENST00000310961.5_Missense_Mutation_p.R10W	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	5						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.R5W(2)|p.R43W(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GACCACCAAACGGAAAATCAT	0.458																																						uc001dep.2																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(13-15)CGG>TGG		leucine rich repeat containing 7		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	38.0	39.0	39.0		13	4.8	1.0	1	dbSNP_134	39	0,8596		0,0,4298	no	missense	LRRC7	NM_020794.2	101	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	5/1538	70225900	1,13001	2203	4298	6501	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70225900C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.13C>T	1.37:g.70225900C>T	ENSP00000035383:p.Arg5Trp					LRRC7_uc001deo.1_Missense_Mutation_p.R43W|LRRC7_uc009wbg.2_Translation_Start_Site	p.R5W	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			1	43	+			5					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.13C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027422	0.75390	2.27E-4	0.0	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.48522	0.95;1.05;0.81	5.77	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.50684	-0.8799	10	0.87932	D	0	.	12.9121	0.58184	0.3236:0.6764:0.0:0.0	.	5;43	Q96NW7;B1AKT2	LRRC7_HUMAN;.	W	10;43;5;5	ENSP00000309245:R10W;ENSP00000359997:R43W;ENSP00000035383:R5W	ENSP00000035383:R5W	R	+	1	2	LRRC7	69998488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.075000	0.41538	2.729000	0.93468	0.557000	0.71058	CGG		PASS	0.458	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		9	63	9	63	---	---	---	---
SRSF11	9295	broad.mit.edu	37	1	70716350	70716350	+	Silent	SNP	A	A	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:70716350A>G	ENST00000370950.3	+	13	1399	c.1317A>G	c.(1315-1317)aaA>aaG	p.K439K	SRSF11_ENST00000370949.1_Silent_p.K379K|SRSF11_ENST00000370951.1_Silent_p.K438K|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000405432.1_Silent_p.K439K			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	439					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K439K(1)		large_intestine(3)|ovary(2)|skin(1)	6						AAGAGAAAAAAGAAGAGAAGA	0.393																																						uc001des.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1315-1317)AAA>AAG		splicing factor, arginine/serine-rich 11							55.0	55.0	55.0					1																	70716350		2203	4299	6502	SO:0001819	synonymous_variant	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70716350A>G	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.1317A>G	1.37:g.70716350A>G						SFRS11_uc001det.2_Silent_p.K438K|SFRS11_uc001dev.2_Silent_p.K249K|SFRS11_uc001dew.2_Silent_p.K379K	p.K439K	NM_004768	NP_004759	Q05519	SRS11_HUMAN			13	1441	+			439					Q5T758|Q8IWE6	Silent	SNP	ENST00000370950.3	37	c.1317A>G	CCDS647.1																																																																																				PASS	0.393	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		21	49	21	49	---	---	---	---
ZNF644	84146	broad.mit.edu	37	1	91405548	91405548	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:91405548G>A	ENST00000370440.1	-	3	1580	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.R455W|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	455					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.R455W(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CGAAATGTCCGTCCACATTCT	0.403																																						uc001dnw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1363-1365)CGG>TGG		zinc finger protein 644 isoform 1							110.0	112.0	112.0					1																	91405548		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91405548G>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1363C>T	1.37:g.91405548G>A	ENSP00000359469:p.Arg455Trp					ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.R455W	p.R455W	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1505	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	455			C2H2-type 2.		A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.1363C>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364188	0.41902	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.77877	-1.13;-1.13	5.82	4.89	0.63831	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.057049	0.64402	D	0.000001	T	0.78842	0.4347	L	0.41027	1.25	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.82717	-0.0319	10	0.87932	D	0	-5.5937	13.8213	0.63322	0.0:0.0:0.6059:0.3941	.	455	Q9H582	ZN644_HUMAN	W	455;455;27	ENSP00000359469:R455W;ENSP00000337008:R455W	ENSP00000337008:R455W	R	-	1	2	ZNF644	91178136	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.137000	0.64789	1.418000	0.47098	0.655000	0.94253	CGG		PASS	0.403	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		10	231	10	231	---	---	---	---
ARHGAP29	9411	broad.mit.edu	37	1	94685819	94685819	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:94685819A>G	ENST00000260526.6	-	3	517	c.335T>C	c.(334-336)gTg>gCg	p.V112A	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.V112A	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	112					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.V112A(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CTTACCTTTCACTTTTGCAGT	0.368																																						uc001dqj.3																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(334-336)GTG>GCG		PTPL1-associated RhoGAP 1							132.0	129.0	130.0					1																	94685819		2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94685819A>G		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.335T>C	1.37:g.94685819A>G	ENSP00000260526:p.Val112Ala					ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Missense_Mutation_p.V112A	p.V112A	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	3	704	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	112					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.335T>C	CCDS748.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.441807	0.83993	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.37752	1.18;1.3	5.67	5.67	0.87782	.	0.244371	0.21295	N	0.076902	T	0.48978	0.1530	M	0.61703	1.905	0.45747	D	0.998645	P;D	0.89917	0.801;1.0	B;D	0.80764	0.183;0.994	T	0.53570	-0.8420	10	0.87932	D	0	-7.7721	14.144	0.65339	1.0:0.0:0.0:0.0	.	112;112	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	A	112	ENSP00000260526:V112A;ENSP00000359237:V112A	ENSP00000260526:V112A	V	-	2	0	ARHGAP29	94458407	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	6.667000	0.74451	2.154000	0.67381	0.533000	0.62120	GTG		PASS	0.368	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		107	152	107	152	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103474062	103474062	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:103474062C>A	ENST00000370096.3	-	15	1952	c.1640G>T	c.(1639-1641)gGt>gTt	p.G547V	COL11A1_ENST00000512756.1_Missense_Mutation_p.G431V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G508V|COL11A1_ENST00000461720.1_5'Flank|COL11A1_ENST00000358392.2_Missense_Mutation_p.G559V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	547	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G559V(1)|p.G547V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCAGATGAACCAGGCCCCCC	0.363																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1639-1641)GGT>GTT		alpha 1 type XI collagen isoform A							55.0	65.0	62.0					1																	103474062		2202	4300	6502	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103474062C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1640G>T	1.37:g.103474062C>A	ENSP00000359114:p.Gly547Val					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G559V|COL11A1_uc001dun.2_Missense_Mutation_p.G508V|COL11A1_uc009weh.2_Missense_Mutation_p.G431V	p.G547V	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	15	1958	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	547			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1640G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734282	0.69189	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-4.87	5.51	5.51	0.81932	.	0.105878	0.64402	D	0.000004	D	0.99725	0.9893	H	0.97291	3.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.97370	0.9975	10	0.87932	D	0	.	19.4122	0.94679	0.0:1.0:0.0:0.0	.	431;508;559;547	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	V	547;559;508;431;559	ENSP00000359114:G547V;ENSP00000351163:G559V;ENSP00000302551:G508V;ENSP00000426533:G431V;ENSP00000408640:G559V	ENSP00000302551:G508V	G	-	2	0	COL11A1	103246650	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.297000	0.78799	2.588000	0.87417	0.655000	0.94253	GGT		PASS	0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		58	56	58	56	---	---	---	---
RSBN1	54665	broad.mit.edu	37	1	114354481	114354481	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:114354481T>C	ENST00000261441.5	-	1	617	c.554A>G	c.(553-555)cAt>cGt	p.H185R	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	185	His-rich.					nucleus (GO:0005634)		p.H185R(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGCCCTTATGCTTGGGCCC	0.682																																						uc001edq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(553-555)CAT>CGT		round spermatid basic protein 1							54.0	47.0	50.0					1																	114354481		2203	4300	6503	SO:0001583	missense	54665					nucleus		g.chr1:114354481T>C	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.554A>G	1.37:g.114354481T>C	ENSP00000261441:p.His185Arg					RSBN1_uc001edr.2_RNA	p.H185R	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	590	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	185			His-rich.		A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.554A>G	CCDS862.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.959502	0.53400	.	.	ENSG00000081019	ENST00000261441	.	.	.	4.23	4.23	0.50019	.	0.000000	0.64402	D	0.000014	T	0.15349	0.0370	N	0.08118	0	0.28376	N	0.919771	P	0.47106	0.89	P	0.52554	0.702	T	0.03717	-1.1010	9	0.51188	T	0.08	-6.8316	9.6322	0.39787	0.0:0.0:0.0:1.0	.	185	Q5VWQ0	RSBN1_HUMAN	R	185	.	ENSP00000261441:H185R	H	-	2	0	RSBN1	114156004	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.906000	0.39887	1.775000	0.52247	0.533000	0.62120	CAT		PASS	0.682	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		19	26	19	26	---	---	---	---
IGSF3	3321	broad.mit.edu	37	1	117150571	117150571	+	Silent	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:117150571G>T	ENST00000369486.3	-	5	1980	c.1215C>A	c.(1213-1215)ctC>ctA	p.L405L	IGSF3_ENST00000318837.6_Silent_p.L405L|IGSF3_ENST00000369483.1_Silent_p.L405L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	405	Ig-like C2-type 4.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.L405L(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TACTGAGGGGGAGGACTATGA	0.517																																						uc001egr.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1213-1215)CTC>CTA		immunoglobulin superfamily, member 3 isoform 2							96.0	106.0	103.0					1																	117150571		2203	4300	6503	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117150571G>T	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1215C>A	1.37:g.117150571G>T						IGSF3_uc001egq.1_Silent_p.L405L|IGSF3_uc001egs.1_Silent_p.L78L	p.L405L	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	5	1920	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	405			Ig-like C2-type 4.|Extracellular (Potential).		A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.1215C>A	CCDS30813.1																																																																																				PASS	0.517	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		15	192	15	192	---	---	---	---
HORMAD1	84072	broad.mit.edu	37	1	150680777	150680777	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:150680777G>T	ENST00000361824.2	-	9	607	c.502C>A	c.(502-504)Cct>Act	p.P168T	HORMAD1_ENST00000368993.2_Missense_Mutation_p.P168T|HORMAD1_ENST00000368995.4_Missense_Mutation_p.P88T|HORMAD1_ENST00000322343.7_Missense_Mutation_p.P161T	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	168	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)		p.P168T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACATCATTAGGTAAAGGCCCC	0.353																																						uc001evk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(502-504)CCT>ACT		HORMA domain containing 1							121.0	116.0	118.0					1																	150680777		2203	4300	6503	SO:0001583	missense	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150680777G>T	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.502C>A	1.37:g.150680777G>T	ENSP00000355167:p.Pro168Thr					HORMAD1_uc001evl.1_Missense_Mutation_p.P161T|HORMAD1_uc001evm.1_Missense_Mutation_p.P88T	p.P168T	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		9	608	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		168			HORMA.		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	c.502C>A	CCDS967.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599529	0.87055	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824;ENST00000368987;ENST00000442853	T;T;T;T	0.75477	-0.94;0.44;0.22;0.42	5.75	5.75	0.90469	DNA-binding HORMA (4);	0.000000	0.85682	D	0.000000	D	0.88411	0.6429	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.90164	0.4230	10	0.87932	D	0	-14.703	18.5163	0.90936	0.0:0.0:1.0:0.0	.	88;161;168	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	T	88;168;97;88;161;168;97;90	ENSP00000357991:P88T;ENSP00000357989:P168T;ENSP00000326489:P161T;ENSP00000355167:P168T	ENSP00000326489:P161T	P	-	1	0	HORMAD1	148947401	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.265000	0.95647	2.719000	0.93026	0.655000	0.94253	CCT		PASS	0.353	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		8	103	8	103	---	---	---	---
SEMA6C	10500	broad.mit.edu	37	1	151109537	151109537	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:151109537C>A	ENST00000341697.3	-	11	2461	c.770G>T	c.(769-771)cGc>cTc	p.R257L				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	257	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R257L(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCGGGCTACGCGGGAGAACTG	0.582																																						uc001ewu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(769-771)CGC>CTC		semaphorin Y precursor							61.0	60.0	60.0					1																	151109537		2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151109537C>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.770G>T	1.37:g.151109537C>A	ENSP00000344148:p.Arg257Leu					SEMA6C_uc001ewv.2_Missense_Mutation_p.R257L|SEMA6C_uc001eww.2_Missense_Mutation_p.R217L|SEMA6C_uc010pcq.1_Missense_Mutation_p.R257L|SEMA6C_uc009wml.1_RNA	p.R257L	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		11	1070	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		257			Extracellular (Potential).|Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.770G>T	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006726	0.93287	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.69	4.69	0.59074	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.60792	0.2296	H	0.94734	3.575	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.97110	1.0;0.986;1.0;0.997	T	0.72981	-0.4126	10	0.87932	D	0	.	15.1613	0.72788	0.0:1.0:0.0:0.0	.	257;217;257;257	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	L	257;217;257;257;257	ENSP00000357910:R257L;ENSP00000357908:R217L;ENSP00000357909:R257L;ENSP00000344148:R257L	ENSP00000344148:R257L	R	-	2	0	SEMA6C	149376161	0.993000	0.37304	0.814000	0.32528	0.888000	0.51559	7.609000	0.82925	2.434000	0.82447	0.561000	0.74099	CGC		PASS	0.582	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		31	103	31	103	---	---	---	---
HSD17B7	51478	broad.mit.edu	37	1	162774108	162774108	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:162774108G>A	ENST00000254521.3	+	7	854	c.799G>A	c.(799-801)Gct>Act	p.A267T	HSD17B7_ENST00000367917.3_Missense_Mutation_p.A232T|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	267					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.A267T(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TGGAACAGAAGCTCTGGTATG	0.333																																						uc001gci.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(799-801)GCT>ACT		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						51.0	52.0	52.0					1																	162774108		2202	4296	6498	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162774108G>A	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.799G>A	1.37:g.162774108G>A	ENSP00000254521:p.Ala267Thr					HSD17B7_uc009wuv.2_RNA	p.A267T	NM_016371	NP_057455	P56937	DHB7_HUMAN			7	894	+	all_hematologic(112;0.115)		267			Cytoplasmic (Potential).		Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.799G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293432	0.95546	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.80909	2.85;-1.43;2.85	4.71	4.71	0.59529	NAD(P)-binding domain (1);	0.050644	0.85682	D	0.000000	T	0.79661	0.4484	M	0.78049	2.395	0.36044	D	0.840277	D	0.65815	0.995	P	0.53518	0.728	T	0.79300	-0.1860	9	0.08837	T	0.75	-40.047	16.3847	0.83501	0.0:0.0:1.0:0.0	.	267	P56937	DHB7_HUMAN	T	232;267;85	ENSP00000356894:A232T;ENSP00000254521:A267T;ENSP00000412146:A85T	ENSP00000254521:A267T	A	+	1	0	HSD17B7	161040732	1.000000	0.71417	0.978000	0.43139	0.844000	0.47949	9.137000	0.94496	2.432000	0.82394	0.561000	0.74099	GCT		PASS	0.333	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		36	60	36	60	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167097199	167097199	+	Missense_Mutation	SNP	C	C	A	rs373804090		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:167097199C>A	ENST00000361200.2	+	6	2997	c.2831C>A	c.(2830-2832)aCg>aAg	p.T944K	DUSP27_ENST00000443333.1_Missense_Mutation_p.T944K|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.T944K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	944	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.T944K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGCCTCAGGACGGAGGAAAAA	0.507																																						uc001geb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2830-2832)ACG>AAG		dual specificity phosphatase 27							52.0	48.0	50.0					1																	167097199		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097199C>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2831C>A	1.37:g.167097199C>A	ENSP00000354483:p.Thr944Lys						p.T944K	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	2831	+			944			Ser-rich.		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.2831C>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269759	0.40095	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03152	4.03;4.03;4.03	5.25	4.09	0.47781	.	0.127580	0.36555	N	0.002535	T	0.01800	0.0057	L	0.57536	1.79	0.26426	N	0.976014	P	0.40515	0.719	B	0.34418	0.182	T	0.34650	-0.9820	10	0.87932	D	0	-5.3873	11.2264	0.48886	0.0:0.8862:0.0:0.1138	.	944	Q5VZP5	DUS27_HUMAN	K	944	ENSP00000354483:T944K;ENSP00000271385:T944K;ENSP00000404874:T944K	ENSP00000271385:T944K	T	+	2	0	DUSP27	165363823	0.686000	0.27661	0.927000	0.36925	0.770000	0.43624	1.518000	0.35877	0.852000	0.35287	0.643000	0.83706	ACG		PASS	0.507	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		9	36	9	36	---	---	---	---
TRMT1L	81627	broad.mit.edu	37	1	185125643	185125643	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:185125643A>C	ENST00000367506.5	-	1	470	c.202T>G	c.(202-204)Tcc>Gcc	p.S68A	TRMT1L_ENST00000367504.3_5'UTR|SWT1_ENST00000367500.4_5'Flank|SWT1_ENST00000367501.3_5'Flank	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	68					adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)	p.S68A(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						gaggctagggacggggacagg	0.667																																						uc001grf.3																			1	Substitution - Missense(1)		lung(1)		0						c.(202-204)TCC>GCC		N2,N2-dimethylguanosine tRNA							15.0	19.0	18.0					1																	185125643		2171	4288	6459	SO:0001583	missense	81627					intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr1:185125643A>C	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.202T>G	1.37:g.185125643A>C	ENSP00000356476:p.Ser68Ala					C1orf26_uc001grg.3_5'Flank|C1orf26_uc001grh.3_5'Flank|C1orf25_uc010pon.1_Intron	p.S68A	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN			1	474	-			68					Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	c.202T>G	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.603215	0.46423	.	.	ENSG00000121486	ENST00000367506	.	.	.	3.74	3.74	0.42951	.	0.387908	0.23631	N	0.046138	T	0.47002	0.1422	N	0.24115	0.695	0.80722	D	1	P	0.44690	0.841	P	0.51170	0.661	T	0.48779	-0.9005	9	0.62326	D	0.03	0.6351	9.1321	0.36852	1.0:0.0:0.0:0.0	.	68	Q7Z2T5	TRM1L_HUMAN	A	68	.	ENSP00000356476:S68A	S	-	1	0	TRMT1L	183392266	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.218000	0.42889	1.930000	0.55929	0.379000	0.24179	TCC		PASS	0.667	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		24	23	24	23	---	---	---	---
SWT1	54823	broad.mit.edu	37	1	185153960	185153960	+	Silent	SNP	C	C	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:185153960C>G	ENST00000367500.4	+	9	1491	c.1326C>G	c.(1324-1326)gcC>gcG	p.A442A	SWT1_ENST00000367501.3_Silent_p.A442A	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	442	PINc.							p.A442A(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TAAAACGTGCCCAGCACAAAG	0.378																																						uc001grg.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1324-1326)GCC>GCG		hypothetical protein LOC54823							122.0	119.0	120.0					1																	185153960		2203	4300	6503	SO:0001819	synonymous_variant	54823							g.chr1:185153960C>G	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1326C>G	1.37:g.185153960C>G						C1orf26_uc001grh.3_Silent_p.A442A	p.A442A	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN			9	1440	+			442			PINc.		Q8NEK9|Q9BZQ7|Q9NXQ0	Silent	SNP	ENST00000367500.4	37	c.1326C>G	CCDS1367.1																																																																																				PASS	0.378	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		71	84	71	84	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201752839	201752839	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:201752839T>A	ENST00000367296.4	+	7	3083	c.2663T>A	c.(2662-2664)cTc>cAc	p.L888H	NAV1_ENST00000367295.1_Missense_Mutation_p.L497H|NAV1_ENST00000367297.4_Missense_Mutation_p.L888H|NAV1_ENST00000367302.1_Missense_Mutation_p.L901H|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Missense_Mutation_p.L888H|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.L888H	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	888					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.L888H(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						ATGGAGTCCCTCCAGATGCCA	0.602																																						uc001gwu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(2662-2664)CTC>CAC		neuron navigator 1							64.0	65.0	64.0					1																	201752839		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201752839T>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2663T>A	1.37:g.201752839T>A	ENSP00000356265:p.Leu888His					NAV1_uc001gwv.1_Missense_Mutation_p.L396H|NAV1_uc001gww.1_Missense_Mutation_p.L497H|NAV1_uc001gwx.2_Missense_Mutation_p.L497H|NAV1_uc001gwy.1_Missense_Mutation_p.L269H	p.L888H	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			7	3010	+			888					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.2663T>A	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	T	24.2	4.509173	0.85282	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	T;T;T;T;T;T	0.12361	2.69;2.74;2.74;2.74;2.7;2.77	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.34221	0.0890	L	0.59436	1.845	0.50171	D	0.999853	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.988;0.997;0.999	T	0.05716	-1.0868	10	0.87932	D	0	-29.4213	14.9611	0.71158	0.0:0.0:0.0:1.0	.	888;497;888;396;888	Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.;.;NAV1_HUMAN;.;.	H	901;888;888;888;888;396;497	ENSP00000356271:L901H;ENSP00000356265:L888H;ENSP00000295624:L888H;ENSP00000356266:L888H;ENSP00000356269:L888H;ENSP00000356264:L497H	ENSP00000295624:L888H	L	+	2	0	NAV1	200019462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.585000	0.82584	2.071000	0.62044	0.332000	0.21555	CTC		PASS	0.602	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		26	90	26	90	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207646387	207646387	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:207646387C>T	ENST00000367058.3	+	10	2030	c.1841C>T	c.(1840-1842)tCt>tTt	p.S614F	CR2_ENST00000367057.3_Missense_Mutation_p.S614F|CR2_ENST00000367059.3_Missense_Mutation_p.S614F|CR2_ENST00000458541.2_Missense_Mutation_p.S587F	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	614	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.S614F(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TACAAGATATCTGGCAAGGAA	0.453																																						uc001hfw.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(1840-1842)TCT>TTT		complement component (3d/Epstein Barr virus)							89.0	86.0	87.0					1																	207646387		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207646387C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1841C>T	1.37:g.207646387C>T	ENSP00000356025:p.Ser614Phe					CR2_uc001hfv.2_Missense_Mutation_p.S614F|CR2_uc009xch.2_Missense_Mutation_p.S614F|CR2_uc009xci.1_Missense_Mutation_p.S99F	p.S614F	NM_001877	NP_001868	P20023	CR2_HUMAN			10	1935	+			614			Sushi 10.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.1841C>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519888	0.27211	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.77	2.75	0.32379	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.67401	0.2889	M	0.84082	2.675	0.09310	N	1	B;B;B;B	0.25105	0.118;0.056;0.012;0.096	B;B;B;B	0.30646	0.118;0.071;0.046;0.072	T	0.62905	-0.6755	9	0.59425	D	0.04	.	5.7269	0.18018	0.0:0.6709:0.1585:0.1706	.	614;614;614;614	C9JHD2;Q5SR47;P20023;P20023-3	.;.;CR2_HUMAN;.	F	614;614;614;587	ENSP00000356025:S614F;ENSP00000356024:S614F;ENSP00000356026:S614F;ENSP00000404222:S587F	ENSP00000356024:S614F	S	+	2	0	CR2	205713010	0.000000	0.05858	0.403000	0.26384	0.785000	0.44390	0.273000	0.18662	0.796000	0.33947	0.655000	0.94253	TCT		PASS	0.453	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		34	108	34	108	---	---	---	---
LIN9	286826	broad.mit.edu	37	1	226475435	226475435	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:226475435G>A	ENST00000328205.5	-	5	921	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	LIN9_ENST00000481685.1_Missense_Mutation_p.R91C|LIN9_ENST00000366801.1_Missense_Mutation_p.R75C	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	110	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)		p.R126C(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		AGCAGATTACGTAATCGAAAA	0.303																																					Ovarian(197;1696 2974 11248 14117)	uc001hqa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(376-378)CGT>TGT		lin-9 homolog							121.0	127.0	125.0					1																	226475435		2202	4297	6499	SO:0001583	missense	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226475435G>A	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.376C>T	1.37:g.226475435G>A	ENSP00000329102:p.Arg126Cys					LIN9_uc001hqb.2_Missense_Mutation_p.R91C|LIN9_uc001hqc.2_Missense_Mutation_p.R58C|LIN9_uc009xel.1_Missense_Mutation_p.R91C	p.R126C	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	5	686	-	Breast(184;0.158)		110			Sufficient for interaction with RB1.		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	c.376C>T	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074902	0.76415	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807;ENST00000359525	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.77857	0.4193	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.953;0.991;0.93	T	0.77603	-0.2526	9	0.49607	T	0.09	-0.7724	19.1913	0.93667	0.0:0.0:1.0:0.0	.	91;110;260	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	C	86;126;181;75;91;260;58	.	ENSP00000329102:R126C	R	-	1	0	LIN9	224542058	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.794000	0.62482	2.527000	0.85204	0.561000	0.74099	CGT		PASS	0.303	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		99	123	99	123	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228495859	228495859	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:228495859G>A	ENST00000422127.1	+	47	12558	c.12514G>A	c.(12514-12516)Gcc>Acc	p.A4172T	OBSCN_ENST00000366709.4_Missense_Mutation_p.A1291T|OBSCN_ENST00000570156.2_Missense_Mutation_p.A5129T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4172T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1806T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4172	Ig-like 43.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.A4172T(1)|p.A4754T(1)|p.A4884T(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGGTGACGGCCGATGAGGA	0.597																																						uc009xez.1																			3	Substitution - Missense(3)		lung(3)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(12514-12516)GCC>ACC		obscurin, cytoskeletal calmodulin and							91.0	104.0	99.0					1																	228495859		2166	4259	6425	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228495859G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12514G>A	1.37:g.228495859G>A	ENSP00000409493:p.Ala4172Thr					OBSCN_uc001hsn.2_Missense_Mutation_p.A4172T	p.A4172T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			47	12558	+		Prostate(94;0.0405)	4172			Ig-like 43.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.12514G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949247	0.53186	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.04862	3.54;3.54;3.54;3.54	6.04	3.15	0.36227	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.362404	0.25313	N	0.031567	T	0.11879	0.0289	M	0.77820	2.39	0.09310	N	1	P;P	0.49559	0.925;0.841	P;B	0.48270	0.572;0.228	T	0.14755	-1.0461	10	0.19590	T	0.45	.	8.5516	0.33455	0.1319:0.0:0.7423:0.1258	.	4172;4172	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	4172;4172;1806;1291	ENSP00000284548:A4172T;ENSP00000409493:A4172T;ENSP00000355668:A1806T;ENSP00000355670:A1291T	ENSP00000284548:A4172T	A	+	1	0	OBSCN	226562482	0.476000	0.25901	0.005000	0.12908	0.002000	0.02628	3.415000	0.52700	0.430000	0.26230	0.563000	0.77884	GCC		PASS	0.597	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		20	64	20	64	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247588143	247588143	+	Silent	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:247588143C>A	ENST00000336119.3	+	3	2144	c.1398C>A	c.(1396-1398)ctC>ctA	p.L466L	NLRP3_ENST00000348069.2_Silent_p.L466L|NLRP3_ENST00000391828.3_Silent_p.L466L|NLRP3_ENST00000366496.2_Silent_p.L466L|NLRP3_ENST00000366497.2_Silent_p.L466L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.L466L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	466	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.L466L(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCGCCCACCTCTGGGGGCTCT	0.592																																						uc001icr.2																			1	Substitution - coding silent(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1396-1398)CTC>CTA		NLR family, pyrin domain containing 3 isoform a							26.0	27.0	26.0					1																	247588143		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588143C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1398C>A	1.37:g.247588143C>A						NLRP3_uc001ics.2_Silent_p.L466L|NLRP3_uc001icu.2_Silent_p.L466L|NLRP3_uc001icw.2_Silent_p.L466L|NLRP3_uc001icv.2_Silent_p.L466L|NLRP3_uc010pyw.1_Silent_p.L464L|NLRP3_uc001ict.1_Silent_p.L464L	p.L466L	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1536	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	466			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.1398C>A	CCDS1632.1																																																																																				PASS	0.592	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		11	37	11	37	---	---	---	---
OR2T10	127069	broad.mit.edu	37	1	248756875	248756875	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr1:248756875C>G	ENST00000330500.2	-	1	225	c.195G>C	c.(193-195)caG>caC	p.Q65H	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q65H(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAGTGAGAGCTGGTTTATAA	0.428																																						uc010pzn.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(193-195)CAG>CAC		olfactory receptor, family 2, subfamily T,							77.0	87.0	84.0					1																	248756875		2049	4236	6285	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756875C>G		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.195G>C	1.37:g.248756875C>G	ENSP00000329210:p.Gln65His						p.Q65H	NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	195	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		65			Helical; Name=2; (Potential).		B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.195G>C	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	9.779	1.174665	0.21704	.	.	ENSG00000184022	ENST00000330500	T	0.03004	4.08	2.34	1.28	0.21552	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.05227	0.0139	N	0.20304	0.555	0.09310	N	1	D	0.63046	0.992	P	0.60345	0.873	T	0.43442	-0.9391	9	0.44086	T	0.13	.	3.3555	0.07168	0.415:0.438:0.0:0.1471	.	65	Q8NGZ9	O2T10_HUMAN	H	65	ENSP00000329210:Q65H	ENSP00000329210:Q65H	Q	-	3	2	OR2T10	246823498	0.001000	0.12720	0.277000	0.24703	0.913000	0.54294	-0.235000	0.09016	1.118000	0.41863	0.441000	0.28932	CAG		PASS	0.428	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		33	46	33	46	---	---	---	---
SH3YL1	26751	broad.mit.edu	37	2	229996	229996	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:229996C>A	ENST00000405430.1	-	10	1127	c.751G>T	c.(751-753)Gca>Tca	p.A251S	SH3YL1_ENST00000403658.1_Missense_Mutation_p.A155S|SH3YL1_ENST00000403657.1_Missense_Mutation_p.A155S|SH3YL1_ENST00000403712.2_Missense_Mutation_p.A251S|SH3YL1_ENST00000468321.1_5'UTR|SH3YL1_ENST00000415006.2_Missense_Mutation_p.A155S|SH3YL1_ENST00000356150.5_Missense_Mutation_p.A251S			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	251					phosphatidylinositol biosynthetic process (GO:0006661)|regulation of ruffle assembly (GO:1900027)	ruffle membrane (GO:0032587)	phosphatase binding (GO:0019902)|phosphatidylinositol binding (GO:0035091)	p.A155S(1)|p.A251S(1)		large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		TGGACTGGTGCAGATGACTGC	0.313																																						uc002qvx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(751-753)GCA>TCA		SH3 domain containing, Ysc84-like 1 isoform 1							78.0	75.0	76.0					2																	229996		1864	4107	5971	SO:0001583	missense	26751							g.chr2:229996C>A		CCDS42646.1, CCDS42646.2, CCDS54332.1, CCDS62841.1	2p25.3	2013-10-18	2013-10-18		ENSG00000035115	ENSG00000035115			29546	protein-coding gene	gene with protein product			"""SH3 domain containing, Ysc84-like 1 (S. cerevisiae)"""			21624956	Standard	NM_001282687		Approved	Ray, DKFZP586F1318	uc002qvx.3	Q96HL8	OTTHUMG00000151359	ENST00000405430.1:c.751G>T	2.37:g.229996C>A	ENSP00000384269:p.Ala251Ser					SH3YL1_uc002qvy.2_Missense_Mutation_p.A251S|SH3YL1_uc002qvz.2_RNA|SH3YL1_uc002qwa.2_RNA|SH3YL1_uc010ewe.2_Missense_Mutation_p.A155S|SH3YL1_uc002qvu.2_RNA|SH3YL1_uc002qvv.2_Missense_Mutation_p.A155S|SH3YL1_uc002qvw.2_RNA	p.A251S	NM_015677	NP_056492	Q96HL8	SH3Y1_HUMAN		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)	8	835	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)	251					A8K8E7|B7WNJ4|B7WPL6|Q8NEL2|Q9H5X4|Q9Y3V5	Missense_Mutation	SNP	ENST00000405430.1	37	c.751G>T		.	.	.	.	.	.	.	.	.	.	C	9.925	1.213237	0.22289	.	.	ENSG00000035115	ENST00000415006;ENST00000403712;ENST00000403657;ENST00000405430;ENST00000356150;ENST00000403658;ENST00000451005;ENST00000431160	T;T;T;T;T;T;T	0.25749	2.09;2.01;2.02;1.91;1.91;2.02;1.78	4.92	0.919	0.19392	.	0.674693	0.13368	N	0.393160	T	0.12817	0.0311	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.13594	0.008;0.0;0.0;0.001	B;B;B;B	0.12156	0.007;0.001;0.001;0.006	T	0.37798	-0.9690	10	0.10377	T	0.69	-7.8812	5.2927	0.15735	0.0:0.4763:0.3361:0.1876	.	155;251;251;155	Q96HL8-4;Q96HL8-2;Q96HL8;Q96HL8-3	.;.;SH3Y1_HUMAN;.	S	155;251;155;251;251;155;183;207	ENSP00000404143:A155S;ENSP00000384276:A251S;ENSP00000385668:A155S;ENSP00000384269:A251S;ENSP00000348471:A251S;ENSP00000383928:A155S;ENSP00000416312:A183S	ENSP00000348471:A251S	A	-	1	0	SH3YL1	219996	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.154000	0.10130	-0.050000	0.13356	0.313000	0.20887	GCA		PASS	0.313	SH3YL1-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322352.1	NM_015677		41	61	41	61	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8938353	8938353	+	Silent	SNP	A	A	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:8938353A>C	ENST00000256707.3	-	10	1159	c.978T>G	c.(976-978)ccT>ccG	p.P326P	KIDINS220_ENST00000427284.1_Silent_p.P326P|KIDINS220_ENST00000319688.5_Silent_p.P327P|KIDINS220_ENST00000473731.1_Silent_p.P326P|KIDINS220_ENST00000418530.1_Silent_p.P284P	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	326					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.P326P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTTCAGTGTCAGGATTGCACT	0.343																																						uc002qzc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(976-978)CCT>CCG		kinase D-interacting substrate of 220 kDa							128.0	121.0	123.0					2																	8938353		1878	4100	5978	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8938353A>C	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.978T>G	2.37:g.8938353A>C						KIDINS220_uc010yiv.1_Silent_p.P92P|KIDINS220_uc002qzd.2_Silent_p.P284P|KIDINS220_uc010yiw.1_Silent_p.P327P	p.P326P	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			10	1160	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		326			Cytoplasmic (Potential).|ANK 10.		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.978T>G	CCDS42650.1																																																																																				PASS	0.343	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		45	75	45	75	---	---	---	---
FNDC4	64838	broad.mit.edu	37	2	27720154	27720154	+	5'Flank	SNP	A	A	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:27720154A>C	ENST00000264703.3	-	0	0				GCKR_ENST00000264717.2_Missense_Mutation_p.N35T|GCKR_ENST00000424318.2_5'UTR	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N35T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GAGAAGTCAAACCCACTGACC	0.537																																						uc002rky.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(103-105)AAC>ACC		glucokinase regulatory protein							147.0	134.0	139.0					2																	27720154		2203	4300	6503	SO:0001631	upstream_gene_variant	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27720154A>C	AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"""Fibronectin type III domain containing"""	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787		2.37:g.27720154A>C	Exception_encountered					FNDC4_uc002rkx.2_5'Flank|GCKR_uc010ezd.2_Missense_Mutation_p.N35T|GCKR_uc010ylu.1_5'UTR	p.N35T	NM_001486	NP_001477	Q14397	GCKR_HUMAN			2	170	+	Acute lymphoblastic leukemia(172;0.155)		35					D6W560	Missense_Mutation	SNP	ENST00000264703.3	37	c.104A>C	CCDS1756.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.533896	0.45073	.	.	ENSG00000084734	ENST00000264717;ENST00000453813	D;D	0.86030	-2.06;-2.06	4.23	3.08	0.35506	.	0.000000	0.64402	D	0.000001	D	0.91026	0.7177	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89808	0.3980	10	0.87932	D	0	-17.6434	7.6971	0.28600	0.897:0.0:0.103:0.0	.	35;35	A8K731;Q14397	.;GCKR_HUMAN	T	35;7	ENSP00000264717:N35T;ENSP00000399463:N7T	ENSP00000264717:N35T	N	+	2	0	GCKR	27573658	0.995000	0.38212	0.965000	0.40720	0.546000	0.35178	2.956000	0.49129	0.667000	0.31107	0.374000	0.22700	AAC		PASS	0.537	FNDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215031.1	NM_022823		8	174	8	174	---	---	---	---
SPDYA	245711	broad.mit.edu	37	2	29045243	29045243	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:29045243G>T	ENST00000334056.5	+	5	536	c.347G>T	c.(346-348)aGt>aTt	p.S116I	SPDYA_ENST00000462832.1_3'UTR|SPDYA_ENST00000379579.4_Missense_Mutation_p.S116I	NM_182756.3	NP_877433.2			speedy/RINGO cell cycle regulator family member A									p.S116I(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TTTACTATAAGTGAGCATACC	0.254																																						uc002rmj.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(346-348)AGT>ATT		speedy homolog A isoform 1							49.0	51.0	50.0					2																	29045243		2178	4246	6424	SO:0001583	missense	245711				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding	g.chr2:29045243G>T	AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806		"""Speedy homologs"""	30613	protein-coding gene	gene with protein product		614029	"""speedy homolog 1 (Drosophila)"", ""speedy homolog A (Xenopus laevis)"""	SPDY1		11980914, 12839962, 15611625	Standard	NM_182756		Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000334056.5:c.347G>T	2.37:g.29045243G>T	ENSP00000335628:p.Ser116Ile					SPDYA_uc002rmi.2_Missense_Mutation_p.S116I|SPDYA_uc002rmk.2_Missense_Mutation_p.S116I|SPDYA_uc002rml.2_Missense_Mutation_p.S116I	p.S116I	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN			5	553	+	Acute lymphoblastic leukemia(172;0.155)		116			Speedy/Ringo box; Required for CDK- binding (By similarity).			Missense_Mutation	SNP	ENST00000334056.5	37	c.347G>T	CCDS1767.2	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814421	0.32053	.	.	ENSG00000163806	ENST00000379579;ENST00000334056;ENST00000449210	.	.	.	5.32	-0.446	0.12238	.	1.077570	0.07241	U	0.864151	T	0.45716	0.1356	L	0.50333	1.59	0.22199	N	0.999298	B;B	0.33477	0.413;0.36	B;B	0.40444	0.329;0.128	T	0.43572	-0.9383	9	0.19147	T	0.46	-47.3041	10.7864	0.46407	0.5623:0.0:0.4377:0.0	.	116;116	Q5MJ70;Q5MJ70-1	SPDYA_HUMAN;.	I	116	.	ENSP00000335628:S116I	S	+	2	0	SPDYA	28898747	0.957000	0.32711	0.995000	0.50966	0.997000	0.91878	0.336000	0.19823	-0.245000	0.09625	0.585000	0.79938	AGT		PASS	0.254	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157171.1	NM_182756		25	34	25	34	---	---	---	---
EML4	27436	broad.mit.edu	37	2	42472648	42472648	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:42472648A>G	ENST00000318522.5	+	2	291	c.29A>G	c.(28-30)gAt>gGt	p.D10G	EML4_ENST00000402711.2_Missense_Mutation_p.D10G|EML4_ENST00000482660.1_3'UTR|EML4_ENST00000401738.3_Missense_Mutation_p.D10G	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	10					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.D10G(2)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TTTATAGATGATAGTATTTCT	0.338			T	ALK	NSCLC																																	uc002rsi.2				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(246)	2	Substitution - Missense(2)		lung(2)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						c.(28-30)GAT>GGT		echinoderm microtubule associated protein like 4							41.0	37.0	38.0					2																	42472648		2202	4300	6502	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42472648A>G	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.29A>G	2.37:g.42472648A>G	ENSP00000320663:p.Asp10Gly					EML4_uc002rsh.3_Missense_Mutation_p.D10G|EML4_uc010fap.2_Missense_Mutation_p.D10G	p.D10G	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN			2	291	+			10					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.29A>G	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.669676	0.88348	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.75938	-0.98;-0.59;-0.98	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.85362	0.5679	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.87578	0.994;0.998;0.989	D	0.86374	0.1725	10	0.56958	D	0.05	-19.4239	15.8835	0.79222	1.0:0.0:0.0:0.0	.	10;10;10	B5MCW9;Q9HC35;A6P4T4	.;EMAL4_HUMAN;.	G	10	ENSP00000320663:D10G;ENSP00000385059:D10G;ENSP00000384939:D10G	ENSP00000320663:D10G	D	+	2	0	EML4	42326152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.360000	0.90095	2.153000	0.67306	0.477000	0.44152	GAT		PASS	0.338	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		19	18	19	18	---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48035532	48035532	+	Missense_Mutation	SNP	T	T	C	rs373629400		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:48035532T>C	ENST00000403359.3	-	22	2662	c.2590A>G	c.(2590-2592)Ata>Gta	p.I864V	FBXO11_ENST00000316377.4_Missense_Mutation_p.I780V|FBXO11_ENST00000434523.2_Missense_Mutation_p.I288V|FBXO11_ENST00000402508.1_Missense_Mutation_p.I780V|MSH6_ENST00000234420.5_3'UTR|FBXO11_ENST00000405808.1_Missense_Mutation_p.I18V	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	864					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I780V(2)|p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCACACATATGGCATTTCGA	0.338			"""Mis, F, D"""		DLBCL																																	uc010fbl.2				Rec	yes		2	2p16.3	80204		F-box protein 11			L					4	Substitution - Missense(2)|Whole gene deletion(2)	p.I780V(1)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)|lung(1)	ovary(1)|lung(1)	2						c.(2338-2340)ATA>GTA		F-box only protein 11 isoform 1		T	VAL/ILE,VAL/ILE	0,4406		0,0,2203	146.0	129.0	135.0		2590,2338	5.7	1.0	2		135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FBXO11	NM_001190274.1,NM_025133.4	29,29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	864/928,780/844	48035532	1,13005	2203	4300	6503	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48035532T>C	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2590A>G	2.37:g.48035532T>C	ENSP00000384823:p.Ile864Val					FBXO11_uc002rwe.2_Missense_Mutation_p.I780V|FBXO11_uc010fbk.2_Missense_Mutation_p.I288V	p.I780V	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		22	2452	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	864			UBR-type.		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	c.2338A>G	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	T	5.321	0.244606	0.10077	0.0	1.16E-4	ENSG00000138081	ENST00000405808;ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.75072	0.3800	N	0.16016	0.355	0.80722	D	1	B	0.20671	0.047	B	0.30179	0.112	T	0.73020	-0.4114	10	0.87932	D	0	-13.1688	16.2962	0.82776	0.0:0.0:0.0:1.0	.	288	B3KUR1	.	V	18;780;864;780;288	ENSP00000385127:I18V;ENSP00000385398:I780V;ENSP00000384823:I864V;ENSP00000323822:I780V;ENSP00000397359:I288V	ENSP00000323822:I780V	I	-	1	0	FBXO11	47889036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.970000	0.88000	2.304000	0.77564	0.528000	0.53228	ATA		PASS	0.338	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		77	145	77	145	---	---	---	---
GTF2A1L	11036	broad.mit.edu	37	2	48873991	48873991	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:48873991T>A	ENST00000403751.3	+	6	825	c.788T>A	c.(787-789)gTg>gAg	p.V263E	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V967E|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.V229E|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.V967E|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V967E|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V967E|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.V920E|LHCGR_ENST00000420913.3_Intron	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	263					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.V967E(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTGGAGTCAGTGCTCAGTGGT	0.463																																						uc010yol.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(2758-2760)GTG>GAG		stonin 1							100.0	97.0	98.0					2																	48873991		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48873991T>A	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.788T>A	2.37:g.48873991T>A	ENSP00000384597:p.Val263Glu					STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.V967E|GTF2A1L_uc002rws.1_Missense_Mutation_p.V263E|GTF2A1L_uc010yom.1_Missense_Mutation_p.V229E|GTF2A1L_uc002rwt.2_Missense_Mutation_p.V263E	p.V920E	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	2806	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	920					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.2759T>A	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618305	0.28801	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T	0.53640	2.84;2.76;2.84;2.84;3.01;0.61	4.69	0.81	0.18732	.	0.823184	0.10592	N	0.656627	T	0.51924	0.1703	M	0.78049	2.395	0.09310	N	1	P;B;B;P;B	0.49559	0.925;0.039;0.299;0.662;0.174	P;B;B;B;B	0.48227	0.571;0.034;0.243;0.322;0.099	T	0.45293	-0.9271	10	0.87932	D	0	.	4.8252	0.13412	0.0:0.1086:0.3699:0.5214	.	229;920;967;263;967	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	E	967;967;967;967;920;262;272;229;263	ENSP00000385499:V967E;ENSP00000385701:V967E;ENSP00000378236:V967E;ENSP00000311493:V967E;ENSP00000378234:V920E;ENSP00000396702:V272E	ENSP00000384597:V263E	V	+	2	0	STON1-GTF2A1L;GTF2A1L	48727495	0.130000	0.22417	0.003000	0.11579	0.578000	0.36192	0.926000	0.28804	-0.017000	0.14103	-0.438000	0.05819	GTG		PASS	0.463	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		62	96	62	96	---	---	---	---
CCDC85A	114800	broad.mit.edu	37	2	56420458	56420458	+	Missense_Mutation	SNP	G	G	A	rs372992628		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:56420458G>A	ENST00000407595.2	+	2	1625	c.1123G>A	c.(1123-1125)Gga>Aga	p.G375R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	375								p.G375R(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCACAAACACGGAGGAGGCAG	0.642																																						uc002rzn.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)	5						c.(1123-1125)GGA>AGA		coiled-coil domain containing 85A		G	ARG/GLY	0,4382		0,0,2191	22.0	27.0	26.0		1123	0.6	0.0	2		26	1,8593		0,1,4296	no	missense	CCDC85A	NM_001080433.1	125	0,1,6487	AA,AG,GG		0.0116,0.0,0.0077	benign	375/554	56420458	1,12975	2191	4297	6488	SO:0001583	missense	114800							g.chr2:56420458G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1123G>A	2.37:g.56420458G>A	ENSP00000384040:p.Gly375Arg						p.G375R	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1625	+			375						Missense_Mutation	SNP	ENST00000407595.2	37	c.1123G>A	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	3.989	-0.004806	0.07773	0.0	1.16E-4	ENSG00000055813	ENST00000407595	.	.	.	5.21	0.597	0.17504	.	2.453220	0.01950	N	0.042599	T	0.14098	0.0341	N	0.14661	0.345	0.09310	N	0.999998	P	0.34412	0.453	B	0.20767	0.031	T	0.10660	-1.0620	9	0.22706	T	0.39	-31.5563	1.648	0.02766	0.1641:0.2469:0.3612:0.2278	.	375	Q96PX6	CC85A_HUMAN	R	375	.	ENSP00000384040:G375R	G	+	1	0	CCDC85A	56273962	0.030000	0.19436	0.019000	0.16419	0.638000	0.38207	0.582000	0.23834	0.177000	0.19895	0.484000	0.47621	GGA		PASS	0.642	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			15	19	15	19	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80096990	80096990	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:80096990C>A	ENST00000402739.4	+	4	519	c.514C>A	c.(514-516)Ctt>Att	p.L172I	CTNNA2_ENST00000361291.4_Missense_Mutation_p.L206I|CTNNA2_ENST00000540488.1_Missense_Mutation_p.L172I|CTNNA2_ENST00000496558.1_Missense_Mutation_p.L172I|CTNNA2_ENST00000466387.1_Missense_Mutation_p.L172I|CTNNA2_ENST00000541047.1_Missense_Mutation_p.L172I	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	172					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.L172I(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGAGCAAGACCTTGCAAACCG	0.378																																						uc010ysh.1																			2	Substitution - Missense(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(514-516)CTT>ATT		catenin, alpha 2 isoform 1							108.0	102.0	104.0					2																	80096990		1834	4112	5946	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80096990C>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.514C>A	2.37:g.80096990C>A	ENSP00000384638:p.Leu172Ile					CTNNA2_uc010yse.1_Missense_Mutation_p.L172I|CTNNA2_uc010ysf.1_Missense_Mutation_p.L172I|CTNNA2_uc010ysg.1_Missense_Mutation_p.L172I	p.L172I	NM_004389	NP_004380	P26232	CTNA2_HUMAN			4	519	+			172					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.514C>A		.	.	.	.	.	.	.	.	.	.	C	22.6	4.314467	0.81358	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25;0.25	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000003	T	0.78886	0.4354	M	0.88105	2.93	0.51482	D	0.999926	P;D;D	0.53151	0.938;0.958;0.958	D;D;D	0.70487	0.969;0.929;0.929	T	0.81782	-0.0775	10	0.66056	D	0.02	.	13.638	0.62233	0.0:0.9204:0.0:0.0796	.	172;172;172	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	I	172;172;206;172;172;172	ENSP00000418191:L172I;ENSP00000419295:L172I;ENSP00000355398:L206I;ENSP00000384638:L172I;ENSP00000444675:L172I;ENSP00000441705:L172I	ENSP00000355398:L206I	L	+	1	0	CTNNA2	79950498	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.103000	0.50298	2.728000	0.93425	0.655000	0.94253	CTT		PASS	0.378	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		70	115	70	115	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80529586	80529586	+	Silent	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:80529586G>A	ENST00000295057.3	-	2	2015	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.F453F|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	453					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.F453F(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGCTGGCTGGGAAACACTTCC	0.577										HNSCC(69;0.2)																												uc002sok.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1357-1359)TTC>TTT		leucine rich repeat transmembrane neuronal 1							103.0	91.0	95.0					2																	80529586		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529586G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1359C>T	2.37:g.80529586G>A		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.F453F	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1629	-			453			Cytoplasmic (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.1359C>T	CCDS1966.1																																																																																				PASS	0.577	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		5	50	5	50	---	---	---	---
IGKV1-9	28941	broad.mit.edu	37	2	89309488	89309488	+	RNA	SNP	A	A	G	rs576078481	byFrequency	TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:89309488A>G	ENST00000493819.1	-	0	399									immunoglobulin kappa variable 1-9																		GAGGGTAACTATTAAGCTGTT	0.507																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							138.0	133.0	134.0					2																	89309488		1886	4095	5981			0							g.chr2:89309488A>G	Z00013		2p11.2	2012-02-10			ENSG00000241755	ENSG00000241755		"""Immunoglobulins / IGK locus"""	5744	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV19, L8			OTTHUMG00000151637		2.37:g.89309488A>G						uc002stl.2_Intron								74		-									RNA	SNP	ENST00000493819.1	37	c.6859T>C																																																																																					PASS	0.507	IGKV1-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323361.1	NG_000834		96	158	96	158	---	---	---	---
IGKV1D-17	28900	broad.mit.edu	37	2	90121978	90121978	+	RNA	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:90121978C>A	ENST00000483379.1	+	0	377									immunoglobulin kappa variable 1D-17																		AGGGAAAGTCCCTAAGCACCT	0.507																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							187.0	169.0	175.0					2																	90121978		1935	4128	6063			0							g.chr2:90121978C>A	X63392		2p11.2	2012-02-08			ENSG00000242766	ENSG00000242766		"""Immunoglobulins / IGK locus"""	5749	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151610		2.37:g.90121978C>A														16		+									RNA	SNP	ENST00000483379.1	37	c.1847C>A																																																																																					PASS	0.507	IGKV1D-17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323282.1	NG_000833		112	203	112	203	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100182031	100182031	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:100182031C>T	ENST00000409236.2	-	18	3149	c.3037G>A	c.(3037-3039)Gag>Aag	p.E1013K	AFF3_ENST00000356421.2_Missense_Mutation_p.E1038K|AFF3_ENST00000317233.4_Missense_Mutation_p.E1013K|AFF3_ENST00000409579.1_Missense_Mutation_p.E1038K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1013					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.E1038K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTTCCACACTCGATAAACGAC	0.398																																						uc002tag.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(3037-3039)GAG>AAG		AF4/FMR2 family, member 3 isoform 1							180.0	165.0	170.0					2																	100182031		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100182031C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3037G>A	2.37:g.100182031C>T	ENSP00000387207:p.Glu1013Lys					AFF3_uc002taf.2_Missense_Mutation_p.E1038K	p.E1013K	NM_002285	NP_002276	P51826	AFF3_HUMAN			19	3273	-			1013					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.3037G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	36	5.600694	0.96614	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000445815	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.90170	0.6928	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.985;0.997	D	0.90161	0.4228	10	0.54805	T	0.06	.	20.1272	0.97986	0.0:1.0:0.0:0.0	.	1013;1038	P51826;P51826-2	AFF3_HUMAN;.	K	1013;1038;1038;1013;55	ENSP00000317421:E1013K;ENSP00000348793:E1038K;ENSP00000386834:E1038K;ENSP00000387207:E1013K;ENSP00000416685:E55K	ENSP00000317421:E1013K	E	-	1	0	AFF3	99548463	1.000000	0.71417	0.975000	0.42487	0.888000	0.51559	5.997000	0.70646	2.828000	0.97474	0.655000	0.94253	GAG		PASS	0.398	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		98	148	98	148	---	---	---	---
MAP3K19	80122	broad.mit.edu	37	2	135779388	135779388	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:135779388T>C	ENST00000375845.3	-	2	65	c.35A>G	c.(34-36)gAg>gGg	p.E12G	MAP3K19_ENST00000392917.3_Missense_Mutation_p.E12G|MAP3K19_ENST00000358371.4_Missense_Mutation_p.E12G|MAP3K19_ENST00000392918.3_Missense_Mutation_p.E12G|MAP3K19_ENST00000392915.1_Missense_Mutation_p.E29G|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Missense_Mutation_p.E12G	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	12							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E12G(1)									AAGCAATGACTCAGCATGTCT	0.333																																						uc002tue.1																			1	Substitution - Missense(1)		lung(1)	stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(34-36)GAG>GGG		Yeast Sps1/Ste20-related kinase 4 isoform 1							123.0	111.0	115.0					2																	135779388		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135779388T>C	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.35A>G	2.37:g.135779388T>C	ENSP00000365005:p.Glu12Gly					YSK4_uc010fne.1_5'UTR|YSK4_uc002tuf.1_Missense_Mutation_p.E12G|YSK4_uc010fnc.1_Missense_Mutation_p.E12G|YSK4_uc010fnd.1_Missense_Mutation_p.E12G|YSK4_uc010zbg.1_Missense_Mutation_p.E12G|YSK4_uc002tui.3_Missense_Mutation_p.E29G	p.E12G	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	2	66	-			12					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.35A>G	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	18.01	3.527757	0.64860	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915	T;D;T;T;T;T	0.82255	-1.07;-1.59;-1.16;-1.21;-1.03;1.28	4.34	4.34	0.51931	.	0.000000	0.38436	N	0.001698	D	0.88966	0.6581	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;0.999;1.0;0.999;1.0	D;D;D;D;D;D	0.87578	0.968;0.998;0.996;0.998;0.996;0.996	D	0.89504	0.3766	10	0.87932	D	0	.	9.847	0.41032	0.0:0.0:0.0:1.0	.	12;12;12;29;12;12	B7ZMH9;Q56UN5-3;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;YSK4_HUMAN	G	12;12;12;12;12;29	ENSP00000365005:E12G;ENSP00000351140:E12G;ENSP00000365004:E12G;ENSP00000376650:E12G;ENSP00000376649:E12G;ENSP00000376647:E29G	ENSP00000351140:E12G	E	-	2	0	YSK4	135495858	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.252000	0.43196	1.829000	0.53265	0.477000	0.44152	GAG		PASS	0.333	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		40	126	40	126	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160303316	160303316	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:160303316T>C	ENST00000392783.2	-	6	1168	c.673A>G	c.(673-675)Aga>Gga	p.R225G	BAZ2B_ENST00000392782.1_Missense_Mutation_p.R223G|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R225G|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R223G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	225	Ser-rich.				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.R225G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTGTCAACTCTAGCATCCAAA	0.358																																						uc002uao.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(673-675)AGA>GGA		bromodomain adjacent to zinc finger domain, 2B							215.0	202.0	206.0					2																	160303316		1848	4091	5939	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160303316T>C	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.673A>G	2.37:g.160303316T>C	ENSP00000376534:p.Arg225Gly					BAZ2B_uc002uap.2_Missense_Mutation_p.R223G|BAZ2B_uc002uas.1_Missense_Mutation_p.R162G|BAZ2B_uc002uau.1_Missense_Mutation_p.R223G|BAZ2B_uc002uaq.1_Missense_Mutation_p.R153G|BAZ2B_uc002uat.3_Missense_Mutation_p.R162G|BAZ2B_uc010fop.1_Missense_Mutation_p.R223G	p.R225G	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			6	1025	-			225			Ser-rich.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.673A>G	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030834	0.54790	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	5.7	4.53	0.55603	.	0.000000	0.40302	U	0.001139	T	0.24586	0.0596	L	0.57536	1.79	0.41991	D	0.990843	D;D;D;D;D;D	0.89917	0.992;1.0;0.992;0.989;0.989;0.981	D;D;D;D;D;D	0.83275	0.974;0.996;0.974;0.985;0.985;0.966	T	0.00571	-1.1665	10	0.72032	D	0.01	-18.0346	13.0285	0.58829	0.0:0.0:0.1346:0.8654	.	223;162;225;223;223;225	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	G	223;225;225;223;162	ENSP00000376533:R223G;ENSP00000376534:R225G;ENSP00000348087:R225G;ENSP00000339670:R223G	ENSP00000339670:R223G	R	-	1	2	BAZ2B	160011562	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.503000	0.53340	0.970000	0.38263	0.482000	0.46254	AGA		PASS	0.358	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			127	205	127	205	---	---	---	---
PDK1	5163	broad.mit.edu	37	2	173427012	173427012	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:173427012A>G	ENST00000282077.3	+	3	585	c.403A>G	c.(403-405)Att>Gtt	p.I135V	PDK1_ENST00000410055.1_Missense_Mutation_p.I135V|PDK1_ENST00000543905.1_Missense_Mutation_p.I59V|PDK1_ENST00000392571.2_Missense_Mutation_p.I135V|PDK1_ENST00000544863.1_5'UTR			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	135					cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.I135V(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TGCTAAAGCTATTTATGAGTA	0.333									Autosomal Dominant Polycystic Kidney Disease																													uc002uhr.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(1)	4						c.(403-405)ATT>GTT		pyruvate dehydrogenase kinase 1 precursor							141.0	147.0	145.0					2																	173427012		2203	4300	6503	SO:0001583	missense	5163	Autosomal_Dominant_Polycystic_Kidney_Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr2:173427012A>G	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"""pyruvate dehydrogenase kinase, isoenzyme 1"""			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.403A>G	2.37:g.173427012A>G	ENSP00000282077:p.Ile135Val					PDK1_uc010zdz.1_5'UTR|PDK1_uc010zea.1_RNA|PDK1_uc002uhq.1_Missense_Mutation_p.I135V|PDK1_uc002uhs.2_Missense_Mutation_p.I135V|PDK1_uc010zeb.1_Missense_Mutation_p.I135V	p.I135V	NM_002610	NP_002601	Q15118	PDK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.12)		3	503	+			135					B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	ENST00000282077.3	37	c.403A>G	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.243823	0.22796	.	.	ENSG00000152256	ENST00000443353;ENST00000543905;ENST00000282077;ENST00000392571;ENST00000410055;ENST00000439519	T;T;T;T;T;T	0.35236	1.6;1.6;1.6;1.32;1.6;1.6	5.88	-1.34	0.09143	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.483000	0.25222	N	0.032239	T	0.16471	0.0396	N	0.10733	0.035	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.10109	-1.0644	10	0.21014	T	0.42	-12.3493	12.6624	0.56822	0.5002:0.0:0.4998:0.0	.	135;135	Q15118;E9PD65	PDK1_HUMAN;.	V	59;59;135;135;135;59	ENSP00000399558:I59V;ENSP00000438567:I59V;ENSP00000282077:I135V;ENSP00000376352:I135V;ENSP00000386985:I135V;ENSP00000388366:I59V	ENSP00000282077:I135V	I	+	1	0	PDK1	173135258	0.989000	0.36119	0.906000	0.35671	0.673000	0.39480	0.608000	0.24223	-0.104000	0.12154	-0.417000	0.06048	ATT		PASS	0.333	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610		98	172	98	172	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179584771	179584771	+	Silent	SNP	A	A	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:179584771A>G	ENST00000591111.1	-	79	22871	c.22647T>C	c.(22645-22647)taT>taC	p.Y7549Y	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.Y6622Y|TTN_ENST00000589042.1_Silent_p.Y7866Y|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13103	Ig-like 57.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Y6622Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGCATATATATTTTCCAG	0.398																																						uc010zfg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(19864-19866)TAT>TAC		titin isoform N2-A							71.0	65.0	67.0					2																	179584771		1836	4091	5927	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584771A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22647T>C	2.37:g.179584771A>G						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.Y3283Y	p.Y6622Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		78	20090	-			7549					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.19866T>C																																																																																					PASS	0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	70	22	70	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187500923	187500923	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:187500923A>G	ENST00000261023.3	+	7	1020	c.746A>G	c.(745-747)gAc>gGc	p.D249G	ITGAV_ENST00000433736.2_Missense_Mutation_p.D203G|ITGAV_ENST00000374907.3_Missense_Mutation_p.D213G	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	249					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.D249G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ATTTTTGATGACAGCTATTTG	0.328																																					Melanoma(58;108 1995 6081)	uc002upq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(745-747)GAC>GGC		integrin alpha-V isoform 1 precursor							95.0	98.0	97.0					2																	187500923		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187500923A>G		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.746A>G	2.37:g.187500923A>G	ENSP00000261023:p.Asp249Gly					ITGAV_uc010frs.2_Missense_Mutation_p.D213G|ITGAV_uc010zfv.1_Missense_Mutation_p.D203G	p.D249G	NM_002210	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	7	1022	+			249			FG-GAP 4.|Extracellular (Potential).		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.746A>G	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.183033	0.57800	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.22539	1.95;1.95;1.95	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.49287	0.1548	M	0.80982	2.52	0.80722	D	1	D;D;D	0.71674	0.964;0.998;0.979	P;D;P	0.70016	0.71;0.967;0.71	T	0.54906	-0.8223	10	0.87932	D	0	.	15.843	0.78864	1.0:0.0:0.0:0.0	.	203;213;249	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	G	249;249;213;203	ENSP00000261023:D249G;ENSP00000364042:D213G;ENSP00000404291:D203G	ENSP00000261023:D249G	D	+	2	0	ITGAV	187209168	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.608000	0.82898	2.130000	0.65690	0.533000	0.62120	GAC		PASS	0.328	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		30	184	30	184	---	---	---	---
SF3B1	23451	broad.mit.edu	37	2	198281577	198281577	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:198281577T>C	ENST00000335508.6	-	6	645	c.554A>G	c.(553-555)aAt>aGt	p.N185S		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	185					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.N185S(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGCTGCTCCATTGACGACTTT	0.433			Mis		myelodysplastic syndrome																																	uc002uue.2				Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					1	Substitution - Missense(1)		lung(1)	pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(553-555)AAT>AGT		splicing factor 3b, subunit 1 isoform 1							179.0	174.0	176.0					2																	198281577		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198281577T>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.554A>G	2.37:g.198281577T>C	ENSP00000335321:p.Asn185Ser					SF3B1_uc010fsk.1_RNA	p.N185S	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		6	602	-			185					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.554A>G	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820676	0.50633	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.58669	1.825	0.80722	D	1	B	0.27229	0.172	B	0.20767	0.031	T	0.53940	-0.8367	9	0.19590	T	0.45	.	15.3288	0.74190	0.0:0.0:0.0:1.0	.	185	O75533	SF3B1_HUMAN	S	185	.	ENSP00000335321:N185S	N	-	2	0	SF3B1	197989822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.209000	0.71365	0.472000	0.43445	AAT		PASS	0.433	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			174	234	174	234	---	---	---	---
SPATS2L	26010	broad.mit.edu	37	2	201283977	201283977	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:201283977A>G	ENST00000358677.5	+	6	450	c.203A>G	c.(202-204)aAt>aGt	p.N68S	SPATS2L_ENST00000409718.1_Missense_Mutation_p.N68S|SPATS2L_ENST00000451764.2_Missense_Mutation_p.N68S|SPATS2L_ENST00000360760.5_Missense_Mutation_p.N68S|SPATS2L_ENST00000409988.3_Missense_Mutation_p.N68S|SPATS2L_ENST00000409385.1_Missense_Mutation_p.N8S|SPATS2L_ENST00000409140.3_Missense_Mutation_p.N68S|SPATS2L_ENST00000409755.3_Missense_Mutation_p.N98S|SPATS2L_ENST00000409151.1_Missense_Mutation_p.N76S	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	68						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)	p.N98S(1)|p.N68S(1)		endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TTCTAGAACAATAAAAGAAAA	0.403																																						uc002uvn.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(202-204)AAT>AGT		SPATS2-like protein isoform a							22.0	23.0	23.0					2																	201283977		1860	4100	5960	SO:0001583	missense	26010					cytoplasm|nucleolus		g.chr2:201283977A>G	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.203A>G	2.37:g.201283977A>G	ENSP00000351503:p.Asn68Ser					SPATS2L_uc010fst.2_Missense_Mutation_p.N68S|SPATS2L_uc002uvo.3_Missense_Mutation_p.N8S|SPATS2L_uc002uvp.3_Missense_Mutation_p.N68S|SPATS2L_uc002uvq.3_Missense_Mutation_p.N68S|SPATS2L_uc002uvr.3_Missense_Mutation_p.N68S|SPATS2L_uc010zhc.1_Missense_Mutation_p.N98S	p.N68S	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN			6	555	+			68					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	ENST00000358677.5	37	c.203A>G	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.578037	0.45902	.	.	ENSG00000196141	ENST00000439084;ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000439395;ENST00000451764;ENST00000360760;ENST00000423749;ENST00000457757;ENST00000453663;ENST00000409140;ENST00000409397;ENST00000409755;ENST00000409151;ENST00000421573;ENST00000449647;ENST00000438761	.	.	.	5.64	5.64	0.86602	UBA-like (1);	0.000000	0.64402	D	0.000004	T	0.65811	0.2727	L	0.43152	1.355	0.38865	D	0.956573	D;B;D	0.76494	0.999;0.154;0.992	D;B;D	0.79108	0.992;0.085;0.987	T	0.67122	-0.5750	9	0.40728	T	0.16	-24.0785	9.6635	0.39969	0.9208:0.0:0.0792:0.0	.	98;68;68	B4DT67;Q9NUQ6-2;Q9NUQ6	.;.;SPS2L_HUMAN	S	68;68;68;68;8;68;68;68;68;68;68;68;68;98;76;68;68;63	.	ENSP00000351503:N68S	N	+	2	0	SPATS2L	200992222	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.066000	0.57520	2.275000	0.75901	0.528000	0.53228	AAT		PASS	0.403	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		4	5	4	5	---	---	---	---
INO80D	54891	broad.mit.edu	37	2	206921016	206921016	+	Silent	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:206921016G>A	ENST00000403263.1	-	4	1274	c.870C>T	c.(868-870)ttC>ttT	p.F290F		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	290					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.F185F(1)|p.F290F(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AGTGTGGAGAGAAGGCTGTGG	0.537																																						uc002vaz.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(868-870)TTC>TTT		INO80 complex subunit D							101.0	108.0	106.0					2																	206921016		2019	4174	6193	SO:0001819	synonymous_variant	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206921016G>A		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.870C>T	2.37:g.206921016G>A							p.F290F	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			4	1275	-			290					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Silent	SNP	ENST00000403263.1	37	c.870C>T	CCDS46500.1																																																																																				PASS	0.537	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		29	85	29	85	---	---	---	---
ABCB6	10058	broad.mit.edu	37	2	220078648	220078648	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr2:220078648G>A	ENST00000265316.3	-	9	1794	c.1478C>T	c.(1477-1479)tCa>tTa	p.S493L	ABCB6_ENST00000439002.2_Missense_Mutation_p.S447L	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	493	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)	p.S493L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAAAACCAGTGAAGCGCTCGA	0.542																																						uc002vkc.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1477-1479)TCA>TTA		ATP-binding cassette, sub-family B, member 6							76.0	92.0	86.0					2																	220078648		2203	4300	6503	SO:0001583	missense	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220078648G>A	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1478C>T	2.37:g.220078648G>A	ENSP00000265316:p.Ser493Leu					ABCB6_uc010fwe.1_Missense_Mutation_p.S447L	p.S493L	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1755	-		Renal(207;0.0474)	493			ABC transmembrane type-1.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.1478C>T	CCDS2436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.332423|5.332423	0.95733|0.95733	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000295750|ENST00000265316;ENST00000439002	.|D;D	.|0.89050	.|-2.46;-2.46	5.16|5.16	5.16|5.16	0.70880|0.70880	.|ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95582|0.95582	0.8564|0.8564	M|M	0.90922|0.90922	3.16|3.16	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.991;0.996	.|P;D	.|0.68621	.|0.905;0.959	D|D	0.96506|0.96506	0.9375|0.9375	5|10	.|0.87932	.|D	.|0	-5.963|-5.963	18.2702|18.2702	0.90065|0.90065	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|447;493	.|Q9NP58-4;Q9NP58	.|.;ABCB6_HUMAN	Y|L	341|493;447	.|ENSP00000265316:S493L;ENSP00000394333:S447L	.|ENSP00000265316:S493L	H|S	-|-	1|2	0|0	ABCB6|ABCB6	219786892|219786892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.776000|0.776000	0.43924|0.43924	9.721000|9.721000	0.98766|0.98766	2.419000|2.419000	0.82065|0.82065	0.591000|0.591000	0.81541|0.81541	CAC|TCA		PASS	0.542	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		94	119	94	119	---	---	---	---
TIMP4	7079	broad.mit.edu	37	3	12195884	12195884	+	Silent	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr3:12195884C>A	ENST00000287814.4	-	4	930	c.420G>T	c.(418-420)ctG>ctT	p.L140L	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	140	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)	p.L140L(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						GCACCAAGGACAGGTCCTCCC	0.502																																					Melanoma(199;1446 2144 30617 38794 51714)	uc003bwo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(418-420)CTG>CTT		tissue inhibitor of metalloproteinase 4							219.0	186.0	197.0					3																	12195884		2203	4300	6503	SO:0001819	synonymous_variant	7079						metal ion binding|metalloendopeptidase inhibitor activity	g.chr3:12195884C>A	U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"""tissue inhibitor of metalloproteinase 4"""			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763	ENST00000287814.4:c.420G>T	3.37:g.12195884C>A						SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.2_Intron|SYN2_uc003bwn.2_Intron	p.L140L	NM_003256	NP_003247	Q99727	TIMP4_HUMAN			4	727	-			140			NTR.		B2R7K6	Silent	SNP	ENST00000287814.4	37	c.420G>T	CCDS2608.1																																																																																				PASS	0.502	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251978.1	NM_003256		92	53	92	53	---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19436804	19436804	+	Splice_Site	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr3:19436804G>A	ENST00000328405.2	+	7	1443		c.e7+1		KCNH8_ENST00000537696.1_Splice_Site	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8						potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.?(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGGGAAGTTGGTAAGGGCTTA	0.363																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			1	Unknown(1)		lung(1)	lung(4)|ovary(1)	5						c.e7+1		potassium voltage-gated channel, subfamily H,							114.0	118.0	117.0					3																	19436804		2203	4300	6503	SO:0001630	splice_region_variant	131096					integral to membrane	two-component sensor activity	g.chr3:19436804G>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1177+1G>A	3.37:g.19436804G>A						KCNH8_uc011awe.1_Splice_Site_p.G393_splice|KCNH8_uc010hex.1_Splice_Site|KCNH8_uc011awf.1_Splice_Site_p.G24_splice	p.G393_splice	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			7	1372	+								B7Z2I7|Q59GQ6	Splice_Site	SNP	ENST00000328405.2	37	c.1177_splice	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603252	0.87157	.	.	ENSG00000183960	ENST00000328405;ENST00000537696	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8167	0.96571	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNH8	19411808	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.831000	0.99420	2.685000	0.91497	0.557000	0.71058	.		PASS	0.363	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633	Intron	54	41	54	41	---	---	---	---
LARS2	23395	broad.mit.edu	37	3	45588957	45588957	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr3:45588957C>T	ENST00000415258.1	+	21	2788	c.2647C>T	c.(2647-2649)Cga>Tga	p.R883*	LARS2_ENST00000414984.1_Nonsense_Mutation_p.R840*|LARS2_ENST00000265537.3_Nonsense_Mutation_p.R883*			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	883					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.R883*(1)		endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TTTGCAAGGACGAAGCATCAA	0.537																																						uc003cop.1																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2647-2649)CGA>TGA		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						127.0	124.0	125.0					3																	45588957		2203	4300	6503	SO:0001587	stop_gained	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45588957C>T	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.2647C>T	3.37:g.45588957C>T	ENSP00000408576:p.Arg883*					LARS2_uc010hit.1_Nonsense_Mutation_p.R840*	p.R883*	NM_015340	NP_056155	Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	22	2832	+			883						Nonsense_Mutation	SNP	ENST00000415258.1	37	c.2647C>T	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	C	40	7.965232	0.98585	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	.	.	.	5.6	4.64	0.57946	.	0.059678	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-11.3691	14.9394	0.70980	0.1801:0.8199:0.0:0.0	.	.	.	.	X	883;883;840	.	ENSP00000265537:R883X	R	+	1	2	LARS2	45563961	0.547000	0.26465	0.971000	0.41717	0.960000	0.62799	0.981000	0.29526	1.129000	0.42072	0.655000	0.94253	CGA		PASS	0.537	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		6	161	6	161	---	---	---	---
ATXN7	6314	broad.mit.edu	37	3	63981634	63981634	+	Silent	SNP	A	A	G	rs375913531		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr3:63981634A>G	ENST00000295900.6	+	12	2686	c.2136A>G	c.(2134-2136)ccA>ccG	p.P712P	ATXN7_ENST00000538065.1_Silent_p.P712P|ATXN7_ENST00000487717.1_Silent_p.P712P|ATXN7_ENST00000484332.1_Silent_p.P567P|ATXN7_ENST00000398590.3_Silent_p.P712P	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	712	Ser-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.P712P(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		ACAGTTCCCCACTGTTGGTTC	0.502																																						uc003dlw.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(2134-2136)CCA>CCG		ataxin 7 isoform a		A	,,	1,4313		0,1,2156	60.0	71.0	68.0		2136,1701,2136	-6.0	0.1	3		68	0,8560		0,0,4280	no	coding-synonymous,coding-synonymous,coding-synonymous	ATXN7	NM_000333.3,NM_001128149.2,NM_001177387.1	,,	0,1,6436	GG,GA,AA		0.0,0.0232,0.0078	,,	712/893,567/748,712/946	63981634	1,12873	2157	4280	6437	SO:0001819	synonymous_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63981634A>G	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2136A>G	3.37:g.63981634A>G						ATXN7_uc003dlv.2_Silent_p.P712P|ATXN7_uc010hnv.2_Silent_p.P712P|ATXN7_uc011bfn.1_Silent_p.P567P	p.P712P	NM_000333	NP_000324	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	12	2689	+		Prostate(884;0.0181)	712			Ser-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Silent	SNP	ENST00000295900.6	37	c.2136A>G	CCDS43102.1																																																																																				PASS	0.502	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		36	20	36	20	---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66436511	66436511	+	Silent	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr3:66436511G>T	ENST00000273261.3	-	13	2207	c.1683C>A	c.(1681-1683)atC>atA	p.I561I	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000383703.3_Silent_p.I585I	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	561	Ig-like C2-type 1.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.I561I(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGAGGTGCAGGATGGTGGTGT	0.552																																						uc003dmx.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(1681-1683)ATC>ATA		leucine-rich repeats and immunoglobulin-like							226.0	180.0	196.0					3																	66436511		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66436511G>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1683C>A	3.37:g.66436511G>T						SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Silent_p.I181I|LRIG1_uc003dmw.2_Silent_p.I227I|LRIG1_uc010hnz.2_Silent_p.I277I|LRIG1_uc010hoa.2_Silent_p.I585I	p.I561I	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	13	1697	-		Lung NSC(201;0.0101)	561			Extracellular (Potential).|Ig-like C2-type 1.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.1683C>A	CCDS33783.1																																																																																				PASS	0.552	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		104	56	104	56	---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99649618	99649618	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr3:99649618G>T	ENST00000354552.3	-	2	717	c.247C>A	c.(247-249)Ctg>Atg	p.L83M	FILIP1L_ENST00000398326.2_Missense_Mutation_p.L83M|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.L83M	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	83						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L83M(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTGACCTGCAGTTCTCCCTCC	0.493																																						uc003dtm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(247-249)CTG>ATG		filamin A interacting protein 1-like isoform 1							100.0	93.0	96.0					3																	99649618		1917	4132	6049	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99649618G>T		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.247C>A	3.37:g.99649618G>T	ENSP00000346560:p.Leu83Met					C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.L83M|uc003dtq.2_5'Flank	p.L83M	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN			2	710	-			83					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.247C>A	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329230	0.60743	.	.	ENSG00000168386	ENST00000354552;ENST00000331335;ENST00000398326	T;T;T	0.57273	0.41;0.41;0.41	5.63	3.74	0.42951	Cortactin-binding protein-2, N-terminal (1);	0.564441	0.13197	N	0.406291	T	0.70988	0.3287	M	0.85197	2.74	0.80722	D	1	D;D	0.64830	0.992;0.994	P;D	0.65443	0.893;0.935	T	0.71636	-0.4533	10	0.87932	D	0	-1.1862	7.7465	0.28873	0.196:0.1503:0.6537:0.0	.	83;83	Q4L180-2;Q4L180	.;FIL1L_HUMAN	M	83	ENSP00000346560:L83M;ENSP00000327880:L83M;ENSP00000381371:L83M	ENSP00000327880:L83M	L	-	1	2	FILIP1L	101132308	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.392000	0.20801	1.382000	0.46385	0.591000	0.81541	CTG		PASS	0.493	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		10	39	10	39	---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136076678	136076678	+	Silent	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr3:136076678C>T	ENST00000383202.2	-	28	3205	c.2949G>A	c.(2947-2949)gaG>gaA	p.E983E	STAG1_ENST00000236698.5_Silent_p.E983E|STAG1_ENST00000434713.2_Silent_p.E723E|STAG1_ENST00000536929.1_Silent_p.E567E	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	983					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.E983E(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TAAATGCAAACTCTATGCCAT	0.323																																						uc003era.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2947-2949)GAG>GAA		stromal antigen 1							95.0	92.0	93.0					3																	136076678		2203	4298	6501	SO:0001819	synonymous_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136076678C>T	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2949G>A	3.37:g.136076678C>T						STAG1_uc003erb.1_Silent_p.E983E	p.E983E	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			28	3241	-			983					O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	c.2949G>A	CCDS3090.1																																																																																				PASS	0.323	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		44	53	44	53	---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160118637	160118637	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr3:160118637C>T	ENST00000357388.3	+	2	474	c.23C>T	c.(22-24)cCc>cTc	p.P8L	IFT80_ENST00000326448.7_5'Flank|IFT80_ENST00000496589.1_5'Flank|RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000477495.1_5'Flank|SMC4_ENST00000360111.2_Missense_Mutation_p.P8L|SMC4_ENST00000462787.1_Missense_Mutation_p.P8L|SMC4_ENST00000469762.1_Missense_Mutation_p.P8L|SMC4_ENST00000344722.5_Missense_Mutation_p.P8L	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	8					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.P8L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGCACCCAGCCCTCCACTGCC	0.771																																						uc003fdh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(22-24)CCC>CTC		SMC4 structural maintenance of chromosomes							3.0	5.0	4.0					3																	160118637		1639	3543	5182	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160118637C>T	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.23C>T	3.37:g.160118637C>T	ENSP00000349961:p.Pro8Leu					IFT80_uc003fda.2_Intron|IFT80_uc011boy.1_5'Flank|IFT80_uc003fdd.1_5'Flank|IFT80_uc003fde.1_5'Flank|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.P8L|SMC4_uc010hwc.1_5'UTR|SMC4_uc003fdi.2_Missense_Mutation_p.P8L|SMC4_uc003fdj.2_Missense_Mutation_p.P8L|SMC4_uc010hwd.2_Missense_Mutation_p.P8L	p.P8L	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		2	136	+			8					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.23C>T	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.200694	0.38905	.	.	ENSG00000113810	ENST00000497311;ENST00000357388;ENST00000465903;ENST00000485645;ENST00000360111;ENST00000392788;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000490207;ENST00000344722	T;T;T;T;T;T;T;T;T;T	0.74002	0.88;-0.78;0.88;0.88;-0.76;-0.8;0.24;-0.76;0.89;-0.78	3.23	2.35	0.29111	.	0.200238	0.39759	N	0.001263	T	0.56426	0.1984	N	0.24115	0.695	0.42515	D	0.99298	B;B;B	0.26809	0.16;0.099;0.099	B;B;B	0.24848	0.056;0.025;0.025	T	0.51276	-0.8726	10	0.34782	T	0.22	-1.5379	8.3833	0.32486	0.0:0.8828:0.0:0.1172	.	8;8;8	Q9NTJ3-2;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	L	8	ENSP00000418820:P8L;ENSP00000349961:P8L;ENSP00000419247:P8L;ENSP00000420644:P8L;ENSP00000353225:P8L;ENSP00000417964:P8L;ENSP00000420121:P8L;ENSP00000420734:P8L;ENSP00000420817:P8L;ENSP00000341382:P8L	ENSP00000341382:P8L	P	+	2	0	SMC4	161601331	0.582000	0.26749	0.989000	0.46669	0.919000	0.55068	0.303000	0.19210	0.926000	0.37118	-0.244000	0.11960	CCC		PASS	0.771	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			4	15	4	15	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	166960360	166960360	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr3:166960360T>C	ENST00000392766.2	-	20	2549	c.2209A>G	c.(2209-2211)Agt>Ggt	p.S737G	ZBBX_ENST00000455345.2_Missense_Mutation_p.S776G|ZBBX_ENST00000307529.5_Missense_Mutation_p.S776G|ZBBX_ENST00000392764.1_Missense_Mutation_p.S708G|ZBBX_ENST00000392767.2_Missense_Mutation_p.S737G	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	737						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S776G(1)|p.S737G(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GAAATCTGACTTATATTCAGT	0.368																																						uc003fep.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2209-2211)AGT>GGT		zinc finger, B-box domain containing							96.0	94.0	94.0					3																	166960360		1829	4077	5906	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:166960360T>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.2209A>G	3.37:g.166960360T>C	ENSP00000376519:p.Ser737Gly					ZBBX_uc011bpc.1_Missense_Mutation_p.S776G|ZBBX_uc003feq.2_Missense_Mutation_p.S708G	p.S737G	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			20	2532	-			737					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.2209A>G	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	11.44	1.639844	0.29157	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.48	4.31	0.51392	.	0.329510	0.26556	N	0.023712	T	0.36635	0.0974	L	0.34521	1.04	0.27287	N	0.957946	B;B	0.34372	0.356;0.451	B;B	0.31337	0.128;0.086	T	0.22452	-1.0216	10	0.31617	T	0.26	-0.8543	8.4019	0.32592	0.0:0.0913:0.0:0.9087	.	776;737	A8MT70-2;A8MT70	.;ZBBX_HUMAN	G	737;737;776;776;708	ENSP00000376519:S737G;ENSP00000376520:S737G;ENSP00000390232:S776G;ENSP00000305065:S776G;ENSP00000376517:S708G	ENSP00000305065:S776G	S	-	1	0	ZBBX	168443054	0.065000	0.20965	0.460000	0.27093	0.009000	0.06853	0.821000	0.27338	2.079000	0.62486	0.402000	0.26972	AGT		PASS	0.368	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		144	70	144	70	---	---	---	---
GHSR	2693	broad.mit.edu	37	3	172166129	172166129	+	Silent	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr3:172166129G>A	ENST00000241256.2	-	1	117	c.75C>T	c.(73-75)ccC>ccT	p.P25P	GHSR_ENST00000427970.1_Silent_p.P25P	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	25					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.P25P(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AGTCGTTGCCGGGGGAAGCAT	0.682																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.1																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(1)|central_nervous_system(1)	5						c.(73-75)CCC>CCT		growth hormone secretagogue receptor isoform 1a							26.0	26.0	26.0					3																	172166129		2202	4300	6502	SO:0001819	synonymous_variant	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172166129G>A	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.75C>T	3.37:g.172166129G>A						GHSR_uc011bpv.1_Silent_p.P25P	p.P25P	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	75	-	Ovarian(172;0.00143)|Breast(254;0.197)		25			Extracellular (Potential).		Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	c.75C>T	CCDS3218.1																																																																																				PASS	0.682	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		17	53	17	53	---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184297317	184297317	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr3:184297317T>A	ENST00000330394.2	+	10	2306	c.1854T>A	c.(1852-1854)aaT>aaA	p.N618K	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	618					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.N618K(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGGACCCTAATGAGGCTGTTC	0.552																																						uc003foz.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(1852-1854)AAT>AAA		ephrin receptor EphB3 precursor							84.0	78.0	80.0					3																	184297317		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184297317T>A	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1854T>A	3.37:g.184297317T>A	ENSP00000332118:p.Asn618Lys						p.N618K	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		10	2291	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		618			Cytoplasmic (Potential).		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.1854T>A	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.929061	0.73327	.	.	ENSG00000182580	ENST00000330394	T	0.12361	2.69	4.81	-0.407	0.12385	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.37839	0.1018	M	0.90019	3.08	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.19063	-1.0317	10	0.87932	D	0	.	8.4515	0.32873	0.0:0.3408:0.0:0.6592	.	618	P54753	EPHB3_HUMAN	K	618	ENSP00000332118:N618K	ENSP00000332118:N618K	N	+	3	2	EPHB3	185780011	0.001000	0.12720	0.994000	0.49952	0.974000	0.67602	-1.784000	0.01769	-0.235000	0.09767	-0.395000	0.06472	AAT		PASS	0.552	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		32	235	32	235	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66189926	66189926	+	Missense_Mutation	SNP	C	C	A	rs145811811		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr4:66189926C>A	ENST00000273854.3	-	18	3620	c.3020G>T	c.(3019-3021)cGg>cTg	p.R1007L	EPHA5_ENST00000354839.4_Missense_Mutation_p.R985L|EPHA5_ENST00000432638.2_Missense_Mutation_p.R844L	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	1007	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.R1007L(1)|p.R1007Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CACTCCAAGCCGTCTCAAATC	0.433										TSP Lung(17;0.13)																												uc003hcy.2																			2	Substitution - Missense(2)	p.R1007Q(1)	lung(2)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(3019-3021)CGG>CTG		ephrin receptor EphA5 isoform a precursor							101.0	90.0	94.0					4																	66189926		2203	4299	6502	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66189926C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.3020G>T	4.37:g.66189926C>A	ENSP00000273854:p.Arg1007Leu	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.R939L|EPHA5_uc003hcz.2_Missense_Mutation_p.R985L|EPHA5_uc011cah.1_Missense_Mutation_p.R1008L|EPHA5_uc011cai.1_Missense_Mutation_p.R986L	p.R1007L	NM_004439	NP_004430	P54756	EPHA5_HUMAN			18	3213	-			1007			Cytoplasmic (Potential).|SAM.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.3020G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769279	0.90020	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839	T;T;T	0.51574	0.7;0.7;0.7	5.25	5.25	0.73442	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.50627	D	0.000110	T	0.67552	0.2905	M	0.65320	2	0.80722	D	1	P;D;P;D	0.71674	0.897;0.998;0.928;0.994	P;D;P;P	0.74348	0.688;0.983;0.456;0.88	T	0.70612	-0.4824	10	0.87932	D	0	.	18.8545	0.92246	0.0:1.0:0.0:0.0	.	986;1008;985;1007	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	L	1007;844;985	ENSP00000273854:R1007L;ENSP00000389208:R844L;ENSP00000346899:R985L	ENSP00000273854:R1007L	R	-	2	0	EPHA5	65872521	0.986000	0.35501	0.990000	0.47175	0.992000	0.81027	2.925000	0.48884	2.446000	0.82766	0.557000	0.71058	CGG		PASS	0.433	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		44	47	44	47	---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94436493	94436493	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr4:94436493G>C	ENST00000282020.4	+	13	2382	c.2124G>C	c.(2122-2124)atG>atC	p.M708I	GRID2_ENST00000510992.1_Missense_Mutation_p.M613I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	708					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.M708I(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATTCCCAAATGTGGCGGATGA	0.473																																						uc011cdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(2122-2124)ATG>ATC		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						133.0	116.0	122.0					4																	94436493		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94436493G>C	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2124G>C	4.37:g.94436493G>C	ENSP00000282020:p.Met708Ile					GRID2_uc011cdu.1_Missense_Mutation_p.M613I	p.M708I	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	13	2382	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	708			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.2124G>C	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309499	0.81247	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.11277	2.79;2.79	5.1	5.1	0.69264	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.11836	0.0288	L	0.39147	1.195	0.80722	D	1	B;B	0.20550	0.046;0.046	B;B	0.18871	0.023;0.014	T	0.03534	-1.1027	10	0.87932	D	0	.	15.2695	0.73689	0.0:0.1407:0.8593:0.0	.	613;708	E9PH24;O43424	.;GRID2_HUMAN	I	708;613	ENSP00000282020:M708I;ENSP00000421257:M613I	ENSP00000282020:M708I	M	+	3	0	GRID2	94655516	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.560000	0.67332	2.529000	0.85273	0.585000	0.79938	ATG		PASS	0.473	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			34	27	34	27	---	---	---	---
CFI	3426	broad.mit.edu	37	4	110662170	110662170	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr4:110662170A>G	ENST00000394634.2	-	13	1838	c.1631T>C	c.(1630-1632)gTg>gCg	p.V544A	CFI_ENST00000394635.3_Missense_Mutation_p.V552A|CFI_ENST00000512148.1_Missense_Mutation_p.V537A	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	544	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.V544A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CCCCCAACTCACAACACCCCA	0.463																																						uc003hzr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1630-1632)GTG>GCG		complement factor I preproprotein							211.0	221.0	218.0					4																	110662170		2203	4300	6503	SO:0001583	missense	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110662170A>G	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1631T>C	4.37:g.110662170A>G	ENSP00000378130:p.Val544Ala					CFI_uc003hzq.2_Missense_Mutation_p.V341A|CFI_uc011cft.1_Missense_Mutation_p.V552A|CFI_uc003hzs.3_Missense_Mutation_p.V537A	p.V544A	NM_000204	NP_000195	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	13	1839	-		Hepatocellular(203;0.217)	544			Peptidase S1.		O60442	Missense_Mutation	SNP	ENST00000394634.2	37	c.1631T>C	CCDS34049.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.648651	0.87958	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.94537	-3.45;-3.45;-3.45	5.34	5.34	0.76211	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.96337	0.8805	M	0.71206	2.165	0.80722	D	1	D;D;D	0.69078	0.957;0.994;0.997	P;D;P	0.63877	0.807;0.919;0.905	D	0.96490	0.9363	10	0.59425	D	0.04	-17.1218	13.9661	0.64209	1.0:0.0:0.0:0.0	.	552;537;544	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	A	552;544;537	ENSP00000378131:V552A;ENSP00000378130:V544A;ENSP00000427438:V537A	ENSP00000378130:V544A	V	-	2	0	CFI	110881619	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.408000	0.90221	2.036000	0.60181	0.524000	0.50904	GTG		PASS	0.463	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		17	433	17	433	---	---	---	---
BBS12	166379	broad.mit.edu	37	4	123665027	123665027	+	Silent	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr4:123665027G>T	ENST00000314218.3	+	2	2173	c.1980G>T	c.(1978-1980)ccG>ccT	p.P660P	BBS12_ENST00000542236.1_Silent_p.P660P	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	660					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)	p.P660P(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AGCAGATTCCGAGAGTTTATG	0.368									Bardet-Biedl syndrome																													uc003ieu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1978-1980)CCG>CCT		Bardet-Biedl syndrome 12							67.0	68.0	68.0					4																	123665027		2203	4300	6503	SO:0001819	synonymous_variant	166379	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123665027G>T	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1980G>T	4.37:g.123665027G>T							p.P660P	NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN			2	2173	+			660					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Silent	SNP	ENST00000314218.3	37	c.1980G>T	CCDS3728.1																																																																																				PASS	0.368	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		3	101	3	101	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126240503	126240503	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr4:126240503T>A	ENST00000394329.3	+	1	2950	c.2937T>A	c.(2935-2937)agT>agA	p.S979R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	979	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S979R(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTCCTCTAGTGTCATCTTAA	0.448																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(2935-2937)AGT>AGA		FAT tumor suppressor homolog 4 precursor							94.0	93.0	94.0					4																	126240503		1962	4141	6103	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240503T>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2937T>A	4.37:g.126240503T>A	ENSP00000377862:p.Ser979Arg						p.S979R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	2937	+			979			Cadherin 9.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.2937T>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	2.381	-0.342093	0.05243	.	.	ENSG00000196159	ENST00000394329	T	0.02631	4.22	5.1	-3.06	0.05379	Cadherin (5);Cadherin-like (1);	0.207411	0.23330	U	0.049351	T	0.03434	0.0099	L	0.28014	0.82	0.80722	D	1	P	0.37612	0.602	P	0.47705	0.555	T	0.42515	-0.9447	10	0.15066	T	0.55	.	13.3009	0.60324	0.0:0.5719:0.0:0.4281	.	979	Q6V0I7	FAT4_HUMAN	R	979	ENSP00000377862:S979R	ENSP00000377862:S979R	S	+	3	2	FAT4	126459953	0.814000	0.29104	0.165000	0.22776	0.077000	0.17291	-0.035000	0.12205	-0.405000	0.07599	-0.899000	0.02877	AGT		PASS	0.448	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		78	66	78	66	---	---	---	---
LARP1B	55132	broad.mit.edu	37	4	129012165	129012165	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr4:129012165G>T	ENST00000326639.6	+	6	579	c.368G>T	c.(367-369)cGa>cTa	p.R123L	LARP1B_ENST00000512292.1_Missense_Mutation_p.R123L|LARP1B_ENST00000394288.3_Missense_Mutation_p.R123L|LARP1B_ENST00000427266.1_Missense_Mutation_p.R123L|LARP1B_ENST00000264584.5_Missense_Mutation_p.R76L|LARP1B_ENST00000432347.2_Missense_Mutation_p.R123L|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000441387.1_Missense_Mutation_p.R123L	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	123	Arg-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R123L(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GGTTGGAAGCGAGATAGAGAA	0.373																																						uc003iga.2																			2	Substitution - Missense(2)		lung(2)		0						c.(367-369)CGA>CTA		La ribonucleoprotein domain family member 2							81.0	85.0	83.0					4																	129012165		2203	4300	6503	SO:0001583	missense	55132						RNA binding	g.chr4:129012165G>T		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.368G>T	4.37:g.129012165G>T	ENSP00000321997:p.Arg123Leu					LARP1B_uc003ifw.1_Missense_Mutation_p.R76L|LARP1B_uc003ifx.2_Missense_Mutation_p.R123L|LARP1B_uc003ify.2_Missense_Mutation_p.R123L|LARP1B_uc003ifz.1_Missense_Mutation_p.R123L	p.R123L	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN			6	499	+			123			Arg-rich.		Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.368G>T	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	G	7.597	0.672054	0.14776	.	.	ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266	T;T;T;T;T;T;T;T	0.47528	1.88;1.44;1.41;0.86;0.84;1.84;1.86;1.44	3.85	3.01	0.34805	.	0.250440	0.35936	N	0.002887	T	0.31420	0.0796	L	0.37630	1.12	0.80722	D	1	B;B;P;P	0.43701	0.013;0.055;0.673;0.815	B;B;B;B	0.38458	0.008;0.025;0.274;0.209	T	0.03761	-1.1006	10	0.26408	T	0.33	.	6.9733	0.24660	0.0895:0.0:0.7395:0.171	.	123;123;123;123	Q659C4;G3XAJ5;Q659C4-3;G3V0E9	LAR1B_HUMAN;.;.;.	L	123;123;76;123;123;76;123;123	ENSP00000321997:R123L;ENSP00000422850:R123L;ENSP00000427281:R76L;ENSP00000377829:R123L;ENSP00000390395:R123L;ENSP00000264584:R76L;ENSP00000396521:R123L;ENSP00000403586:R123L	ENSP00000264584:R76L	R	+	2	0	LARP1B	129231615	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	3.600000	0.54052	0.963000	0.38082	-0.237000	0.12165	CGA		PASS	0.373	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		3	85	3	85	---	---	---	---
NEIL3	55247	broad.mit.edu	37	4	178272630	178272630	+	Silent	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr4:178272630C>T	ENST00000264596.3	+	7	1084	c.966C>T	c.(964-966)acC>acT	p.T322T	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	322					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)	p.T322T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AGCACTGGACCTGTGTGGTGT	0.438								Base excision repair (BER), DNA glycosylases																														uc003iut.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(964-966)ACC>ACT	BER_DNA_glycosylases	nei endonuclease VIII-like 3							217.0	198.0	204.0					4																	178272630		2203	4300	6503	SO:0001819	synonymous_variant	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178272630C>T	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.966C>T	4.37:g.178272630C>T						NEIL3_uc010irs.2_Intron	p.T322T	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	7	1083	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	322			RanBP2-type.		Q2PPJ3|Q8NG51|Q9NV95	Silent	SNP	ENST00000264596.3	37	c.966C>T	CCDS3828.1																																																																																				PASS	0.438	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		118	100	118	100	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11346612	11346612	+	Silent	SNP	C	C	A	rs370292307		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr5:11346612C>A	ENST00000304623.8	-	9	1689	c.1500G>T	c.(1498-1500)gcG>gcT	p.A500A	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.A163A|CTNND2_ENST00000359640.2_Silent_p.A500A|CTNND2_ENST00000511377.1_Silent_p.A409A|CTNND2_ENST00000458100.2_Silent_p.A67A	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	500					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A500A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTAGGGGTCCGCGTAATTGG	0.657																																						uc003jfa.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1498-1500)GCG>GCT		catenin (cadherin-associated protein), delta 2							84.0	89.0	88.0					5																	11346612		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11346612C>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1500G>T	5.37:g.11346612C>A						CTNND2_uc010itt.2_Silent_p.A409A|CTNND2_uc011cmy.1_Silent_p.A163A|CTNND2_uc011cmz.1_Silent_p.A67A|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.A67A	p.A500A	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			9	1645	-			500					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.1500G>T	CCDS3881.1																																																																																				PASS	0.657	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		177	113	177	113	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24535250	24535250	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr5:24535250A>T	ENST00000264463.4	-	5	1292	c.785T>A	c.(784-786)gTc>gAc	p.V262D		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	262	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V262D(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTTGTCATTGACATCTGTCAG	0.478										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(784-786)GTC>GAC		cadherin 10, type 2 preproprotein							183.0	148.0	160.0					5																	24535250		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535250A>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.785T>A	5.37:g.24535250A>T	ENSP00000264463:p.Val262Asp	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.V262D	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	5	1117	-			262			Cadherin 2.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.785T>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713268	0.68730	.	.	ENSG00000040731	ENST00000264463	T	0.51325	0.71	5.67	5.67	0.87782	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.65698	0.2716	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.68941	-0.5276	10	0.87932	D	0	.	15.0738	0.72059	1.0:0.0:0.0:0.0	.	262	Q9Y6N8	CAD10_HUMAN	D	262	ENSP00000264463:V262D	ENSP00000264463:V262D	V	-	2	0	CDH10	24571007	1.000000	0.71417	0.996000	0.52242	0.213000	0.24496	9.339000	0.96797	2.159000	0.67721	0.482000	0.46254	GTC		PASS	0.478	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		10	250	10	250	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156390197	156390197	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr5:156390197G>T	ENST00000274532.2	-	1	69	c.13C>A	c.(13-15)Cct>Act	p.P5T	TIMD4_ENST00000407087.3_Missense_Mutation_p.P5T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	5						integral component of membrane (GO:0016021)		p.P5T(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAATGAGAGGTTCTTTGGAC	0.453																																						uc003lwh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(13-15)CCT>ACT		T-cell immunoglobulin and mucin domain							129.0	122.0	125.0					5																	156390197		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156390197G>T	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.13C>A	5.37:g.156390197G>T	ENSP00000274532:p.Pro5Thr					TIMD4_uc010jii.2_Missense_Mutation_p.P5T	p.P5T	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	70	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	5					B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.13C>A	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	G	0.541	-0.853714	0.02630	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.17528	2.27;2.31	5.7	0.569	0.17340	.	1.321840	0.05124	N	0.491295	T	0.08935	0.0221	N	0.14661	0.345	0.09310	N	1	B;B	0.21381	0.055;0.013	B;B	0.15052	0.012;0.012	T	0.33574	-0.9863	10	0.27082	T	0.32	-1.8347	2.1271	0.03741	0.1808:0.3636:0.3178:0.1377	.	5;5	B5MCL9;Q96H15	.;TIMD4_HUMAN	T	5	ENSP00000274532:P5T;ENSP00000385973:P5T	ENSP00000274532:P5T	P	-	1	0	TIMD4	156322775	0.000000	0.05858	0.002000	0.10522	0.064000	0.16182	-0.001000	0.12947	0.065000	0.16485	-0.152000	0.13540	CCT		PASS	0.453	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		62	27	62	27	---	---	---	---
CYFIP2	26999	broad.mit.edu	37	5	156787368	156787368	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr5:156787368T>A	ENST00000521420.1	+	24	2909	c.2818T>A	c.(2818-2820)Tat>Aat	p.Y940N	CYFIP2_ENST00000318218.6_Missense_Mutation_p.Y991N|CYFIP2_ENST00000347377.6_Missense_Mutation_p.Y966N|CYFIP2_ENST00000377576.3_Missense_Mutation_p.Y966N|CYFIP2_ENST00000541131.1_Missense_Mutation_p.Y891N|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.Y665N|CYFIP2_ENST00000522463.1_Missense_Mutation_p.Y770N					cytoplasmic FMR1 interacting protein 2									p.Y991N(2)|p.Y966N(1)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCGACATGAGTATGGCTCCCC	0.502																																						uc003lwq.2																			3	Substitution - Missense(3)		lung(3)		0						c.(2896-2898)TAT>AAT		cytoplasmic FMR1 interacting protein 2							133.0	135.0	134.0					5																	156787368		2041	4223	6264	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156787368T>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.2818T>A	5.37:g.156787368T>A	ENSP00000430904:p.Tyr940Asn					CYFIP2_uc011ddn.1_Missense_Mutation_p.Y940N|CYFIP2_uc011ddo.1_Missense_Mutation_p.Y770N|CYFIP2_uc003lwr.2_Missense_Mutation_p.Y966N|CYFIP2_uc003lws.2_Missense_Mutation_p.Y966N|CYFIP2_uc003lwt.2_Missense_Mutation_p.Y869N|CYFIP2_uc011ddp.1_Missense_Mutation_p.Y700N	p.Y966N	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		27	3034	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	991						Missense_Mutation	SNP	ENST00000521420.1	37	c.2896T>A		.	.	.	.	.	.	.	.	.	.	T	26.4	4.730734	0.89390	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	M	0.88842	2.985	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.968	D;D;D;D;D;D	0.91635	0.993;0.999;0.997;0.998;0.998;0.95	T	0.67181	-0.5735	10	0.72032	D	0.01	-18.1551	15.7178	0.77681	0.0:0.0:0.0:1.0	.	830;770;940;966;966;991	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	N	991;770;940;966;966;891;665	ENSP00000325817:Y991N;ENSP00000428009:Y770N;ENSP00000430904:Y940N;ENSP00000313567:Y966N;ENSP00000366799:Y966N;ENSP00000444645:Y891N;ENSP00000403793:Y665N	ENSP00000325817:Y991N	Y	+	1	0	CYFIP2	156719946	1.000000	0.71417	0.626000	0.29213	0.982000	0.71751	7.977000	0.88081	2.099000	0.63709	0.533000	0.62120	TAT		PASS	0.502	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		54	51	54	51	---	---	---	---
GABRG2	2566	broad.mit.edu	37	5	161580117	161580117	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr5:161580117C>G	ENST00000361925.4	+	9	1367	c.1147C>G	c.(1147-1149)Cgc>Ggc	p.R383G	GABRG2_ENST00000414552.2_Missense_Mutation_p.R431G|GABRG2_ENST00000393933.4_Missense_Mutation_p.R288G|GABRG2_ENST00000356592.3_Missense_Mutation_p.R391G			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	383					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R391G(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	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)|Ginkgo biloba(DB01381)|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)	CATTGATATCCGCCCAAGATC	0.493																																						uc003lyz.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1147-1149)CGC>GGC		gamma-aminobutyric acid A receptor, gamma 2							113.0	103.0	107.0					5																	161580117		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161580117C>G		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1147C>G	5.37:g.161580117C>G	ENSP00000354651:p.Arg383Gly					GABRG2_uc010jjc.2_Missense_Mutation_p.R431G|GABRG2_uc003lyy.3_Missense_Mutation_p.R391G|GABRG2_uc011dej.1_Missense_Mutation_p.R288G	p.R383G	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	9	1505	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	383			Cytoplasmic (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.1147C>G	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776414	0.31411	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.85556	-1.99;-1.99;-2.0;-2.0	5.95	4.12	0.48240	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.176085	0.51477	D	0.000096	T	0.79616	0.4476	L	0.42581	1.335	0.58432	D	0.999997	B;B;B	0.17038	0.018;0.003;0.02	B;B;B	0.27076	0.021;0.01;0.076	T	0.73072	-0.4098	10	0.22706	T	0.39	.	11.4909	0.50381	0.1253:0.8096:0.0:0.0651	.	431;383;391	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	G	391;431;383;288	ENSP00000349000:R391G;ENSP00000410732:R431G;ENSP00000354651:R383G;ENSP00000377510:R288G	ENSP00000349000:R391G	R	+	1	0	GABRG2	161512695	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.847000	0.55895	1.526000	0.49068	0.655000	0.94253	CGC		PASS	0.493	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			53	43	53	43	---	---	---	---
SH3PXD2B	285590	broad.mit.edu	37	5	171766540	171766540	+	Silent	SNP	A	A	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr5:171766540A>T	ENST00000311601.5	-	13	1739	c.1569T>A	c.(1567-1569)ccT>ccA	p.P523P	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	523					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)	p.P523P(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTTCCGCGGAGGGAGGCTGG	0.632																																						uc003mbr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1567-1569)CCT>CCA		SH3 and PX domains 2B							67.0	65.0	65.0					5																	171766540		2203	4300	6503	SO:0001819	synonymous_variant	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171766540A>T	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1569T>A	5.37:g.171766540A>T							p.P523P	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		13	1740	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	523					B6F0V2|Q9P2Q1	Silent	SNP	ENST00000311601.5	37	c.1569T>A	CCDS34291.1																																																																																				PASS	0.632	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		60	23	60	23	---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17675990	17675990	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:17675990T>C	ENST00000262077.2	-	3	345	c.346A>G	c.(346-348)Act>Gct	p.T116A	NUP153_ENST00000537253.1_Missense_Mutation_p.T116A	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	116					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.T116A(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCAGTACTAGTTGTTGAAGGT	0.348																																						uc003ncd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(346-348)ACT>GCT		nucleoporin 153kDa							71.0	77.0	75.0					6																	17675990		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17675990T>C	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.346A>G	6.37:g.17675990T>C	ENSP00000262077:p.Thr116Ala					NUP153_uc011dje.1_Missense_Mutation_p.T116A|NUP153_uc010jpl.1_Missense_Mutation_p.T116A	p.T116A	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		3	546	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	116					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.346A>G	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.583895	0.46110	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.30448	1.53;1.53	5.26	4.09	0.47781	Nucleoporin, Nup153-like (1);	0.226724	0.30293	N	0.009952	T	0.14356	0.0347	L	0.36672	1.1	0.36429	D	0.864825	B;P;B	0.40000	0.0;0.698;0.171	B;B;B	0.40702	0.003;0.338;0.052	T	0.02868	-1.1100	10	0.59425	D	0.04	-16.2143	11.1644	0.48535	0.0:0.0725:0.0:0.9275	.	116;138;116	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	A	116;138;116	ENSP00000262077:T116A;ENSP00000444029:T116A	ENSP00000262077:T116A	T	-	1	0	NUP153	17783969	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.889000	0.56212	0.843000	0.35070	-0.274000	0.10170	ACT		PASS	0.348	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			54	98	54	98	---	---	---	---
ID4	3400	broad.mit.edu	37	6	19838206	19838206	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:19838206G>T	ENST00000378700.3	+	1	590	c.221G>T	c.(220-222)cGc>cTc	p.R74L	RP1-167F1.2_ENST00000432171.2_RNA	NM_001546.3	NP_001537.1	P47928	ID4_HUMAN	inhibitor of DNA binding 4, dominant negative helix-loop-helix protein	74	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex neuron differentiation (GO:0021895)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|hippocampus development (GO:0021766)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast proliferation (GO:0007405)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.R74L(1)		lung(1)	1	Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12)		OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621)			TGCTATAGCCGCCTGCGGAGG	0.677																																					Esophageal Squamous(13;105 518 19978 28644 46870)	uc003ncw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(220-222)CGC>CTC		inhibitor of DNA binding 4, dominant negative							34.0	35.0	35.0					6																	19838206		2201	4299	6500	SO:0001583	missense	3400						transcription corepressor activity	g.chr6:19838206G>T	U16153	CCDS4544.1	6p22.3	2013-05-21			ENSG00000172201	ENSG00000172201		"""Basic helix-loop-helix proteins"""	5363	protein-coding gene	gene with protein product		600581				7665172	Standard	NM_001546		Approved	bHLHb27	uc003ncw.4	P47928	OTTHUMG00000014333	ENST00000378700.3:c.221G>T	6.37:g.19838206G>T	ENSP00000367972:p.Arg74Leu						p.R74L	NM_001546	NP_001537	P47928	ID4_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621)		1	590	+	Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12)		74			Helix-loop-helix motif.		Q13005	Missense_Mutation	SNP	ENST00000378700.3	37	c.221G>T	CCDS4544.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157613	0.57368	.	.	ENSG00000172201	ENST00000378700	D	0.97994	-4.65	2.81	1.9	0.25705	Helix-loop-helix DNA-binding (5);	0.073236	0.56097	N	0.000030	D	0.96346	0.8808	L	0.61218	1.895	0.80722	D	1	D	0.54772	0.968	P	0.54924	0.764	D	0.94519	0.7725	9	.	.	.	-15.907	11.2907	0.49247	0.0:0.1873:0.8127:0.0	.	74	P47928	ID4_HUMAN	L	74	ENSP00000367972:R74L	.	R	+	2	0	ID4	19946185	1.000000	0.71417	0.726000	0.30738	0.294000	0.27393	2.196000	0.42686	0.493000	0.27837	0.305000	0.20034	CGC		PASS	0.677	ID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039979.1	NM_001546		6	3	6	3	---	---	---	---
BTN1A1	696	broad.mit.edu	37	6	26505264	26505264	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:26505264C>A	ENST00000244513.6	+	3	605	c.539C>A	c.(538-540)tCc>tAc	p.S180Y		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	180	Ig-like V-type 2.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.S180Y(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TGGAGAACTTCCAAGGGAGAG	0.498																																						uc003nif.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(538-540)TCC>TAC		butyrophilin, subfamily 1, member A1 precursor							103.0	99.0	100.0					6																	26505264		2203	4300	6503	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26505264C>A	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.539C>A	6.37:g.26505264C>A	ENSP00000244513:p.Ser180Tyr						p.S180Y	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			3	559	+			180			Extracellular (Potential).|Ig-like V-type 2.		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.539C>A	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495833	0.26774	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.76839	-1.05	5.63	-1.08	0.09936	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.470720	0.03878	N	0.276731	T	0.46600	0.1401	L	0.56280	1.765	0.09310	N	1	P	0.34724	0.465	B	0.40534	0.332	T	0.37033	-0.9723	10	0.02654	T	1	.	1.6538	0.02777	0.2493:0.3527:0.2442:0.1538	.	180	Q13410	BT1A1_HUMAN	Y	180	ENSP00000244513:S180Y	ENSP00000244513:S180Y	S	+	2	0	BTN1A1	26613243	0.000000	0.05858	0.000000	0.03702	0.663000	0.39108	0.356000	0.20181	0.017000	0.15025	0.655000	0.94253	TCC		PASS	0.498	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		48	94	48	94	---	---	---	---
OR12D3	81797	broad.mit.edu	37	6	29342373	29342373	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:29342373C>A	ENST00000396806.3	-	1	695	c.692G>T	c.(691-693)aGa>aTa	p.R231I	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R231I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GTGGAGTATTCTGCAGGACCT	0.463																																						uc003nme.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(691-693)AGA>ATA		olfactory receptor, family 12, subfamily D,							72.0	74.0	73.0					6																	29342373		1509	2709	4218	SO:0001583	missense	81797				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29342373C>A		CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.692G>T	6.37:g.29342373C>A	ENSP00000380023:p.Arg231Ile						p.R231I	NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN			1	696	-			231			Cytoplasmic (Potential).		A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	c.692G>T	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	C	8.782	0.928522	0.18131	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.00145	8.67	4.19	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	L	0.48174	1.505	0.09310	N	1	B	0.31174	0.311	B	0.36335	0.222	T	0.02539	-1.1144	9	0.59425	D	0.04	-3.2816	8.3501	0.32297	0.0:0.7315:0.0:0.2685	.	231	Q9UGF7	O12D3_HUMAN	I	231	ENSP00000380023:R231I	ENSP00000366348:R231I	R	-	2	0	OR12D3	29450352	0.234000	0.23783	0.001000	0.08648	0.424000	0.31475	1.599000	0.36751	0.405000	0.25532	0.205000	0.17691	AGA		PASS	0.463	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3			63	71	63	71	---	---	---	---
OR10C1	442194	broad.mit.edu	37	6	29408069	29408069	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:29408069C>T	ENST00000444197.2	+	1	987	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R93C(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCACATCTCTCGCTCTGGATG	0.592																																						uc011dlp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(277-279)CGC>TGC		olfactory receptor, family 10, subfamily C,							113.0	109.0	110.0					6																	29408069		1508	2708	4216	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408069C>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.277C>T	6.37:g.29408069C>T	ENSP00000419119:p.Arg93Cys					OR11A1_uc010jrh.1_Intron	p.R93C	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			1	277	+			93			Extracellular (Potential).		Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.277C>T	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828112	0.32329	.	.	ENSG00000206474	ENST00000444197	T	0.00330	8.08	3.32	1.23	0.21249	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33591	U	0.004760	T	0.00144	0.0004	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.69142	0.962	T	0.48175	-0.9058	10	0.87932	D	0	.	0.3445	0.00339	0.2324:0.3066:0.2295:0.2315	.	93	Q96KK4	O10C1_HUMAN	C	93	ENSP00000419119:R93C	ENSP00000419119:R93C	R	+	1	0	OR10C1	29516048	0.000000	0.05858	0.053000	0.19242	0.537000	0.34900	-0.282000	0.08445	0.704000	0.31869	0.196000	0.17591	CGC		PASS	0.592	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			63	107	63	107	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32018015	32018015	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:32018015T>A	ENST00000375244.3	-	27	9400	c.9199A>T	c.(9199-9201)Acc>Tcc	p.T3067S	TNXB_ENST00000375247.2_Missense_Mutation_p.T3065S			P22105	TENX_HUMAN	tenascin XB	3112	Fibronectin type-III 22. {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.T3132S(1)|p.T3067S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTGTCACGGTCAGCTCCCCC	0.622																																						uc003nzl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(9193-9195)ACC>TCC		tenascin XB isoform 1 precursor							94.0	106.0	102.0					6																	32018015		1290	2544	3834	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32018015T>A	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.9199A>T	6.37:g.32018015T>A	ENSP00000364393:p.Thr3067Ser						p.T3065S	NM_019105	NP_061978	P22105	TENX_HUMAN			27	9395	-			3112			Fibronectin type-III 23.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.9193A>T		.	.	.	.	.	.	.	.	.	.	t	17.72	3.460147	0.63401	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56444	0.46;0.46	3.59	0.804	0.18697	.	0.672301	0.13182	N	0.407484	T	0.17408	0.0418	L	0.49126	1.545	0.19575	N	0.999968	B	0.30634	0.288	B	0.27608	0.081	T	0.25363	-1.0134	10	0.13470	T	0.59	.	5.9115	0.19031	0.0:0.2764:0.0:0.7236	.	3065	P22105-3	.	S	3067;3065	ENSP00000364393:T3067S;ENSP00000364396:T3065S	ENSP00000364393:T3067S	T	-	1	0	TNXB	32125993	0.000000	0.05858	0.986000	0.45419	0.922000	0.55478	-0.892000	0.04131	-0.027000	0.13873	0.374000	0.22700	ACC		PASS	0.622	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		34	75	34	75	---	---	---	---
HLA-DPA1	3113	broad.mit.edu	37	6	33041344	33041344	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:33041344G>A	ENST00000419277.1	-	2	133	c.4C>T	c.(4-6)Cgc>Tgc	p.R2C	HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPB1_ENST00000418931.2_5'Flank|HLA-DPB1_ENST00000535465.1_5'Flank|HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.R2C	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	2					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)	p.R2C(1)		kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						TCTTCAGGGCGCATGTTGTGG	0.532																																						uc003ocs.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(4-6)CGC>TGC		major histocompatibility complex, class II, DP							141.0	125.0	131.0					6																	33041344		1511	2709	4220	SO:0001583	missense	3113				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:33041344G>A	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.4C>T	6.37:g.33041344G>A	ENSP00000393566:p.Arg2Cys					HLA-DPA1_uc010juk.2_Missense_Mutation_p.R2C|HLA-DPA1_uc003oct.1_Missense_Mutation_p.R2C|HLA-DPB1_uc011dqn.1_5'Flank|HLA-DPB1_uc003ocu.1_5'Flank|HLA-DPB1_uc011dqo.1_5'Flank|HLA-DPB1_uc011dqp.1_5'Flank	p.R2C	NM_033554	NP_291032	P20036	DPA1_HUMAN			1	35	-			2					A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	37	c.4C>T	CCDS4764.1	.	.	.	.	.	.	.	.	.	.	G	8.452	0.853326	0.17106	.	.	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000448544;ENST00000453337;ENST00000417724	T;T;T	0.02579	4.59;4.59;4.24	3.47	-6.95	0.01628	.	.	.	.	.	T	0.00384	0.0012	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52117	-0.8618	9	0.87932	D	0	.	10.7484	0.46194	0.4353:0.0:0.5647:0.0	.	2	P20036	DPA1_HUMAN	C	2	ENSP00000393566:R2C;ENSP00000402872:R2C;ENSP00000390929:R2C	ENSP00000398134:R2C	R	-	1	0	HLA-DPA1	33149322	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.817000	0.04472	-1.312000	0.02306	-1.138000	0.01928	CGC		PASS	0.532	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		5	192	5	192	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33137206	33137206	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:33137206G>A	ENST00000374708.4	-	49	3752	c.3494C>T	c.(3493-3495)cCa>cTa	p.P1165L	COL11A2_ENST00000361917.1_Missense_Mutation_p.P1144L|COL11A2_ENST00000374712.1_Missense_Mutation_p.P1170L|COL11A2_ENST00000374713.1_Missense_Mutation_p.P1204L|COL11A2_ENST00000374714.1_Missense_Mutation_p.P1225L|COL11A2_ENST00000357486.1_Missense_Mutation_p.P1230L|COL11A2_ENST00000395197.1_Missense_Mutation_p.P1191L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000341947.2_Missense_Mutation_p.P1251L	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1251	Collagen-like 7.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P1251L(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TTTAGGCCCTGGTGGCCCTGG	0.637																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(3751-3753)CCA>CTA		collagen, type XI, alpha 2 isoform 1							56.0	50.0	52.0					6																	33137206		1511	2707	4218	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33137206G>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3494C>T	6.37:g.33137206G>A	ENSP00000363840:p.Pro1165Leu					COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P1165L|COL11A2_uc003ocz.1_Missense_Mutation_p.P1144L	p.P1251L	NM_080680	NP_542411	P13942	COBA2_HUMAN			51	3980	-			1251			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.3752C>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345998	0.61073	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.98684	-5.07;-4.51;-4.51;-4.51;-5.07;-5.07;-5.07;-5.07	4.88	4.88	0.63580	.	0.225169	0.37012	N	0.002288	D	0.97321	0.9124	M	0.87682	2.9	0.58432	D	0.999991	B;B;B	0.25105	0.103;0.103;0.118	B;B;B	0.25140	0.058;0.058;0.026	D	0.97406	0.9999	10	0.87932	D	0	.	10.5978	0.45349	0.0:0.0:0.8082:0.1918	.	1144;1165;1251	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	L	1165;1251;1230;1225;1204;1191;1170;1144	ENSP00000363840:P1165L;ENSP00000339915:P1251L;ENSP00000350079:P1230L;ENSP00000363846:P1225L;ENSP00000363845:P1204L;ENSP00000378623:P1191L;ENSP00000363844:P1170L;ENSP00000355123:P1144L	ENSP00000339915:P1251L	P	-	2	0	COL11A2	33245184	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.132000	0.77251	2.561000	0.86390	0.549000	0.68633	CCA		PASS	0.637	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			28	41	28	41	---	---	---	---
TAPBP	6892	broad.mit.edu	37	6	33272137	33272137	+	Nonsense_Mutation	SNP	G	G	A	rs79026906		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:33272137G>A	ENST00000489157.1	-	4	1098	c.886C>T	c.(886-888)Cga>Tga	p.R296*	TAPBP_ENST00000475304.1_Nonsense_Mutation_p.R401*|TAPBP_ENST00000434618.2_Nonsense_Mutation_p.R383*|TAPBP_ENST00000456592.2_Nonsense_Mutation_p.R383*|TAPBP_ENST00000426633.2_Nonsense_Mutation_p.R383*			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	383	Ig-like C1-type.			L -> P (in Ref. 8; ACD68200). {ECO:0000305}.	amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)	p.R383*(1)		endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						TGGTGAATTCGACAGGCATAG	0.652																																						uc003odx.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1147-1149)CGA>TGA		tapasin isoform 1 precursor							44.0	46.0	45.0					6																	33272137		2203	4300	6503	SO:0001587	stop_gained	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	g.chr6:33272137G>A	Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"""Immunoglobulin superfamily / C1-set domain containing"""	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.886C>T	6.37:g.33272137G>A	ENSP00000419659:p.Arg296*					TAPBP_uc010jus.1_Nonsense_Mutation_p.R401*|TAPBP_uc003ody.2_3'UTR|TAPBP_uc003odz.2_Nonsense_Mutation_p.R383*|TAPBP_uc010jut.1_Nonsense_Mutation_p.R296*|TAPBP_uc011drc.1_Nonsense_Mutation_p.R383*	p.R383*	NM_003190	NP_003181	O15533	TPSN_HUMAN			5	1318	-			383			Ig-like C1-type.|Lumenal (Potential).		A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Nonsense_Mutation	SNP	ENST00000489157.1	37	c.1147C>T	CCDS34427.2	.	.	.	.	.	.	.	.	.	.	G	36	5.613223	0.96637	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540	.	.	.	5.57	5.57	0.84162	.	0.423915	0.23809	N	0.044350	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4827	15.0538	0.71897	0.0:0.0:1.0:0.0	.	.	.	.	X	383;401;296;383;383;383	.	ENSP00000404833:R383X	R	-	1	2	TAPBP	33380115	0.098000	0.21812	0.934000	0.37439	0.631000	0.37964	1.232000	0.32636	2.633000	0.89246	0.549000	0.68633	CGA		PASS	0.652	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276425.2			8	84	8	84	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38830121	38830121	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:38830121G>A	ENST00000359357.3	+	42	5800	c.5546G>A	c.(5545-5547)gGc>gAc	p.G1849D	DNAH8_ENST00000449981.2_Missense_Mutation_p.G2066D|DNAH8_ENST00000441566.1_Missense_Mutation_p.G1849D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1849	AAA 1. {ECO:0000250}.				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.G1849D(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						GGACCTGCTGGCACTGGCAAA	0.463																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(5545-5547)GGC>GAC		dynein, axonemal, heavy polypeptide 8							131.0	128.0	129.0					6																	38830121		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38830121G>A	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.5546G>A	6.37:g.38830121G>A	ENSP00000352312:p.Gly1849Asp						p.G1849D	NM_001371	NP_001362					42	6146	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.5546G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.272131	0.95429	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;D;D;D	0.90620	3.02;-2.7;-2.7;-2.7	6.04	6.04	0.98038	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97340	0.9130	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97704	1.0186	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	1849	Q96JB1	DYH8_HUMAN	D	2054;2054;1849;1849	ENSP00000415331:G2054D;ENSP00000333363:G2054D;ENSP00000352312:G1849D;ENSP00000402294:G1849D	ENSP00000333363:G2054D	G	+	2	0	DNAH8	38938099	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	7.836000	0.86788	2.873000	0.98535	0.563000	0.77884	GGC		PASS	0.463	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		62	129	62	129	---	---	---	---
TCTE1	202500	broad.mit.edu	37	6	44249916	44249916	+	Silent	SNP	G	G	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:44249916G>C	ENST00000371505.4	-	4	1349	c.1227C>G	c.(1225-1227)ctC>ctG	p.L409L	TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	409								p.L409L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCTGTGACAGGAGTGTGGCGG	0.602																																						uc003oxi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1225-1227)CTC>CTG		t-complex-associated testis expressed 1							131.0	108.0	116.0					6																	44249916		2203	4300	6503	SO:0001819	synonymous_variant	202500							g.chr6:44249916G>C	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1227C>G	6.37:g.44249916G>C						SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.L409L	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	1383	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		409			LRR 4.		B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	37	c.1227C>G	CCDS4910.1																																																																																				PASS	0.602	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		22	30	22	30	---	---	---	---
ENPP4	22875	broad.mit.edu	37	6	46107441	46107441	+	Silent	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:46107441C>T	ENST00000321037.4	+	2	351	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	41					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)	p.L41L(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						AGCTGATTATCTGAAGAACTA	0.338																																						uc003oxy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(121-123)CTG>TTG		ectonucleotide pyrophosphatase/phosphodiesterase							71.0	74.0	73.0					6																	46107441		2201	4297	6498	SO:0001819	synonymous_variant	22875					integral to membrane	hydrolase activity	g.chr6:46107441C>T	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.121C>T	6.37:g.46107441C>T							p.L41L	NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN			2	380	+			41			Extracellular (Potential).		A8K5G1|Q7L2N1	Silent	SNP	ENST00000321037.4	37	c.121C>T	CCDS34468.1																																																																																				PASS	0.338	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			9	235	9	235	---	---	---	---
UBE3D	90025	broad.mit.edu	37	6	83748153	83748153	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:83748153C>T	ENST00000369747.3	-	5	771	c.649G>A	c.(649-651)Gga>Aga	p.G217R		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	217					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)	p.G217R(1)									ACGGTCTCTCCCAACATTACC	0.328																																						uc003pjp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(649-651)GGA>AGA		ubiquitin-conjugating enzyme E2C binding							156.0	159.0	158.0					6																	83748153		2203	4300	6503	SO:0001583	missense	90025					cytoplasm	ligase activity	g.chr6:83748153C>T	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.649G>A	6.37:g.83748153C>T	ENSP00000358762:p.Gly217Arg					UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjr.2_Missense_Mutation_p.G185R	p.G217R	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0944)	5	757	-		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)	217					B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	ENST00000369747.3	37	c.649G>A	CCDS34491.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455138	0.84209	.	.	ENSG00000118420	ENST00000369747	D	0.88664	-2.41	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.94062	0.8097	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93955	0.7235	10	0.87932	D	0	-7.2421	19.9474	0.97186	0.0:1.0:0.0:0.0	.	217;217	D6RD24;Q7Z6J8	.;UB2CB_HUMAN	R	217	ENSP00000358762:G217R	ENSP00000358762:G217R	G	-	1	0	UBE2CBP	83804872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.733000	0.68571	2.774000	0.95407	0.655000	0.94253	GGA		PASS	0.328	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		61	112	61	112	---	---	---	---
FIG4	9896	broad.mit.edu	37	6	110056478	110056478	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:110056478G>T	ENST00000230124.3	+	6	747	c.623G>T	c.(622-624)gGa>gTa	p.G208V	FIG4_ENST00000441478.2_Missense_Mutation_p.G62V|FIG4_ENST00000368941.1_Missense_Mutation_p.G131V	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	208	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.G208V(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GAAGATGAAGGATTAATTACA	0.368																																						uc003ptt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(622-624)GGA>GTA		Sac domain-containing inositol phosphatase 3							125.0	123.0	124.0					6																	110056478		2203	4300	6503	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110056478G>T	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.623G>T	6.37:g.110056478G>T	ENSP00000230124:p.Gly208Val					FIG4_uc011eau.1_Missense_Mutation_p.G62V	p.G208V	NM_014845	NP_055660	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	6	838	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	208			SAC.		Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.623G>T	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437956	0.62955	.	.	ENSG00000112367	ENST00000441478;ENST00000230124;ENST00000454215;ENST00000368941	T;T;T	0.72167	1.78;0.64;-0.63	5.62	5.62	0.85841	Synaptojanin, N-terminal (2);	0.057096	0.64402	D	0.000001	T	0.71953	0.3401	L	0.51422	1.61	0.58432	D	0.999995	D;P	0.67145	0.996;0.722	D;B	0.64410	0.925;0.376	T	0.69355	-0.5167	10	0.33940	T	0.23	-21.5233	13.2561	0.60079	0.0726:0.0:0.9273:0.0	.	62;208	F5H8L9;Q92562	.;FIG4_HUMAN	V	62;208;187;131	ENSP00000399443:G62V;ENSP00000230124:G208V;ENSP00000412156:G187V	ENSP00000230124:G208V	G	+	2	0	FIG4	110163171	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.856000	0.86956	2.800000	0.96347	0.650000	0.86243	GGA		PASS	0.368	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		83	155	83	155	---	---	---	---
CEP85L	387119	broad.mit.edu	37	6	118801596	118801596	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:118801596T>C	ENST00000368491.3	-	9	2447	c.1826A>G	c.(1825-1827)aAt>aGt	p.N609S	CEP85L_ENST00000368488.5_Missense_Mutation_p.N612S	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	609						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.N609S(1)									GAGATTATCATTTTCATTCTG	0.343																																						uc003pxz.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1825-1827)AAT>AGT		chromosome 6 open reading frame 204 isoform a							201.0	185.0	190.0					6																	118801596		1871	4104	5975	SO:0001583	missense	387119					centrosome		g.chr6:118801596T>C	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1826A>G	6.37:g.118801596T>C	ENSP00000357477:p.Asn609Ser						p.N609S	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)	9	2414	-		all_cancers(87;0.0814)|all_epithelial(87;0.115)	609			Potential.		A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.1826A>G	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.796013	0.50208	.	.	ENSG00000111860	ENST00000368491;ENST00000368488	T;T	0.10860	2.83;2.83	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.15652	0.0377	L	0.49350	1.555	0.43342	D	0.995396	D	0.67145	0.996	D	0.77557	0.99	T	0.05582	-1.0876	10	0.22109	T	0.4	-24.151	14.7859	0.69803	0.0:0.0:0.0:1.0	.	609	Q5SZL2	CF204_HUMAN	S	609;612	ENSP00000357477:N609S;ENSP00000357474:N612S	ENSP00000357474:N612S	N	-	2	0	C6orf204	118908289	1.000000	0.71417	0.999000	0.59377	0.800000	0.45204	5.669000	0.68081	2.139000	0.66308	0.533000	0.62120	AAT		PASS	0.343	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		76	121	76	121	---	---	---	---
TXLNB	167838	broad.mit.edu	37	6	139583798	139583798	+	Missense_Mutation	SNP	C	C	T	rs147752054		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:139583798C>T	ENST00000358430.3	-	5	1032	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	267						cytoplasm (GO:0005737)		p.R267Q(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTTCATATTTCGCTCACTCTG	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		19725	0.001		0.0	False		,,,				2504	0.0					uc011eds.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(799-801)CGA>CAA		taxilin beta		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	185.0	151.0	162.0		800	5.8	1.0	6	dbSNP_134	162	0,8600		0,0,4300	no	missense	TXLNB	NM_153235.3	43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	267/685	139583798	2,13004	2203	4300	6503	SO:0001583	missense	167838					cytoplasm		g.chr6:139583798C>T		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.800G>A	6.37:g.139583798C>T	ENSP00000351206:p.Arg267Gln						p.R267Q	NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	5	965	-			267			Potential.		Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.800G>A	CCDS34545.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	34	5.301038	0.95601	4.54E-4	0.0	ENSG00000164440	ENST00000358430	T	0.31769	1.48	5.75	5.75	0.90469	.	0.056514	0.64402	D	0.000001	T	0.45256	0.1333	L	0.55743	1.74	0.53005	D	0.999966	D	0.89917	1.0	D	0.79784	0.993	T	0.11446	-1.0587	9	.	.	.	-14.8074	19.9334	0.97128	0.0:1.0:0.0:0.0	.	267	Q8N3L3	TXLNB_HUMAN	Q	267	ENSP00000351206:R267Q	.	R	-	2	0	TXLNB	139625491	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	5.958000	0.70330	2.712000	0.92718	0.655000	0.94253	CGA		PASS	0.498	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		87	123	87	123	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146720537	146720537	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:146720537G>C	ENST00000282753.1	+	7	2597	c.2362G>C	c.(2362-2364)Gcg>Ccg	p.A788P	GRM1_ENST00000392299.2_Missense_Mutation_p.A788P|GRM1_ENST00000361719.2_Missense_Mutation_p.A788P|GRM1_ENST00000492807.2_Missense_Mutation_p.A788P|GRM1_ENST00000507907.1_Missense_Mutation_p.A788P|GRM1_ENST00000355289.4_Missense_Mutation_p.A788P			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	788					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.A788P(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CAAATATATCGCGTTCACCAT	0.493																																						uc010khw.1																			2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(2362-2364)GCG>CCG		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						183.0	154.0	164.0					6																	146720537		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720537G>C	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2362G>C	6.37:g.146720537G>C	ENSP00000282753:p.Ala788Pro					GRM1_uc010khv.1_Missense_Mutation_p.A788P|GRM1_uc003qll.2_Missense_Mutation_p.A788P|GRM1_uc011edz.1_Missense_Mutation_p.A788P|GRM1_uc011eea.1_Missense_Mutation_p.A788P	p.A788P	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2832	+		Ovarian(120;0.0387)	788			Helical; Name=6; (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2362G>C	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793493	0.90453	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.68	5.68	0.88126	GPCR, family 3, conserved site (1);GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92734	0.7690	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;0.995	D	0.92933	0.6365	10	0.87932	D	0	.	19.7753	0.96389	0.0:0.0:1.0:0.0	.	788;788;788	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	P	788	ENSP00000354896:A788P;ENSP00000376119:A788P;ENSP00000424095:A788P;ENSP00000282753:A788P;ENSP00000347437:A788P;ENSP00000425599:A788P	ENSP00000282753:A788P	A	+	1	0	GRM1	146762230	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.686000	0.91538	0.585000	0.79938	GCG		PASS	0.493	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		64	117	64	117	---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151161857	151161857	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:151161857G>A	ENST00000358517.2	+	16	4194	c.3983G>A	c.(3982-3984)cGc>cAc	p.R1328H	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.R1328H			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1328							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1328H(2)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AATAGTCCGCGCACTCCAAAA	0.428																																						uc003qny.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(2)	2						c.(3982-3984)CGC>CAC		pleckstrin homology domain containing, family G							89.0	90.0	89.0					6																	151161857		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161857G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.3983G>A	6.37:g.151161857G>A	ENSP00000351318:p.Arg1328His					PLEKHG1_uc011eem.1_Missense_Mutation_p.R1387H	p.R1328H	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	17	4295	+			1328					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.3983G>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	8.636	0.894829	0.17613	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.58652	0.32;0.32	5.03	4.16	0.48862	.	0.093921	0.85682	D	0.000000	T	0.16214	0.0390	N	0.08118	0	0.09310	N	1	P;P	0.51653	0.947;0.53	B;B	0.35182	0.197;0.056	T	0.04242	-1.0966	10	0.72032	D	0.01	.	11.3754	0.49724	0.0901:0.0:0.9098:0.0	.	1135;1328	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	H	1328	ENSP00000356297:R1328H;ENSP00000351318:R1328H	ENSP00000351318:R1328H	R	+	2	0	PLEKHG1	151203550	0.106000	0.21978	0.004000	0.12327	0.009000	0.06853	2.182000	0.42556	1.100000	0.41517	0.655000	0.94253	CGC		PASS	0.428	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			13	179	13	179	---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160525909	160525909	+	Silent	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:160525909G>T	ENST00000356956.1	+	48	7417	c.7269G>T	c.(7267-7269)tcG>tcT	p.S2423S	IGF2R_ENST00000475584.1_Intron	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2423					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.S2423S(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AAGTTCACTCGGGCAGGGGAG	0.587																																						uc003qta.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(7267-7269)TCG>TCT		insulin-like growth factor 2 receptor precursor							107.0	95.0	99.0					6																	160525909		2203	4300	6503	SO:0001819	synonymous_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160525909G>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.7269G>T	6.37:g.160525909G>T							p.S2423S	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	48	7417	+		Breast(66;0.000777)|Ovarian(120;0.0305)	2423			Cytoplasmic (Potential).		Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	c.7269G>T	CCDS5273.1																																																																																				PASS	0.587	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		49	97	49	97	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21646301	21646301	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr7:21646301T>A	ENST00000409508.3	+	20	3833	c.3802T>A	c.(3802-3804)Tat>Aat	p.Y1268N	DNAH11_ENST00000328843.6_Missense_Mutation_p.Y1268N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1268	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y1268N(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATTCAGACACTATGCCCCTCT	0.333									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(3802-3804)TAT>AAT		dynein, axonemal, heavy chain 11							87.0	80.0	82.0					7																	21646301		1837	4104	5941	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21646301T>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3802T>A	7.37:g.21646301T>A	ENSP00000475939:p.Tyr1268Asn						p.Y1268N	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			20	3833	+			1268			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3802T>A		.	.	.	.	.	.	.	.	.	.	T	1.174	-0.640115	0.03557	.	.	ENSG00000105877	ENST00000328843	T	0.21361	2.01	5.46	0.0652	0.14356	.	0.674313	0.13886	N	0.355947	T	0.08268	0.0206	.	.	.	0.09310	N	1	B	0.18610	0.029	B	0.16722	0.016	T	0.37502	-0.9703	9	0.12430	T	0.62	.	3.5265	0.07761	0.1262:0.096:0.4975:0.2803	.	1268	Q96DT5	DYH11_HUMAN	N	1268	ENSP00000330671:Y1268N	ENSP00000330671:Y1268N	Y	+	1	0	DNAH11	21612826	0.003000	0.15002	0.032000	0.17829	0.141000	0.21300	1.339000	0.33885	0.348000	0.23949	0.533000	0.62120	TAT		PASS	0.333	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		18	33	18	33	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21730458	21730458	+	Silent	SNP	T	T	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr7:21730458T>A	ENST00000409508.3	+	35	6031	c.6000T>A	c.(5998-6000)gcT>gcA	p.A2000A	DNAH11_ENST00000328843.6_Silent_p.A2007A	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2007	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A2007A(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGGGTTATGCTGGTCGAACCG	0.408									Kartagener syndrome																													uc003svc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(6019-6021)GCT>GCA		dynein, axonemal, heavy chain 11							174.0	167.0	169.0					7																	21730458		1854	4093	5947	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21730458T>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6000T>A	7.37:g.21730458T>A							p.A2007A	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			36	6052	+			2007			AAA 1 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.6021T>A																																																																																					PASS	0.408	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		123	240	123	240	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21757534	21757534	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr7:21757534C>A	ENST00000409508.3	+	43	7156	c.7125C>A	c.(7123-7125)agC>agA	p.S2375R	DNAH11_ENST00000328843.6_Missense_Mutation_p.S2382R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2382					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S2382R(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGAGAGTAGCCTGGTGCAGG	0.403									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(7144-7146)AGC>AGA		dynein, axonemal, heavy chain 11							155.0	146.0	148.0					7																	21757534		1903	4138	6041	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21757534C>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7125C>A	7.37:g.21757534C>A	ENSP00000475939:p.Ser2375Arg						p.S2382R	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			44	7177	+			2382					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.7146C>A		.	.	.	.	.	.	.	.	.	.	C	19.36	3.812921	0.70912	.	.	ENSG00000105877	ENST00000328843	T	0.25414	1.8	5.82	4.01	0.46588	.	0.195438	0.50627	D	0.000120	T	0.48642	0.1511	.	.	.	0.45205	D	0.998215	D	0.76494	0.999	D	0.85130	0.997	T	0.49409	-0.8943	9	0.49607	T	0.09	.	11.7991	0.52116	0.0:0.8528:0.0:0.1472	.	2382	Q96DT5	DYH11_HUMAN	R	2382	ENSP00000330671:S2382R	ENSP00000330671:S2382R	S	+	3	2	DNAH11	21724059	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.907000	0.28531	1.465000	0.48006	0.557000	0.71058	AGC		PASS	0.403	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		69	165	69	165	---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37298804	37298804	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr7:37298804A>G	ENST00000310758.4	-	6	1042	c.395T>C	c.(394-396)aTg>aCg	p.M132T	ELMO1_ENST00000448602.1_Missense_Mutation_p.M132T|ELMO1_ENST00000442504.1_Missense_Mutation_p.M132T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	132					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.M132T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCTCTCCACCATCTGCGTGAG	0.522																																						uc003tfk.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(394-396)ATG>ACG		engulfment and cell motility 1 isoform 1							52.0	51.0	51.0					7																	37298804		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37298804A>G	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.395T>C	7.37:g.37298804A>G	ENSP00000312185:p.Met132Thr					ELMO1_uc011kbc.1_Missense_Mutation_p.M36T|ELMO1_uc010kxg.1_Missense_Mutation_p.M132T	p.M132T	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			6	702	-			132					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.395T>C	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.342561	0.41498	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40719	0.1128	L	0.33485	1.01	0.80722	D	1	B	0.24258	0.1	B	0.25405	0.06	T	0.27400	-1.0075	10	0.51188	T	0.08	.	15.7378	0.77859	1.0:0.0:0.0:0.0	.	132	Q92556	ELMO1_HUMAN	T	132;36;132;132;132;132	ENSP00000312185:M132T;ENSP00000406952:M132T;ENSP00000394458:M132T;ENSP00000406610:M132T;ENSP00000416090:M132T	ENSP00000312185:M132T	M	-	2	0	ELMO1	37265329	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.306000	0.78905	2.190000	0.69967	0.482000	0.46254	ATG		PASS	0.522	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		18	53	18	53	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43496007	43496007	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr7:43496007G>C	ENST00000395891.2	+	13	3217	c.2612G>C	c.(2611-2613)aGa>aCa	p.R871T	HECW1_ENST00000453890.1_Missense_Mutation_p.R837T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	871					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R850T(1)|p.R871T(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGCATGCGGAGATCGGGGTCC	0.582																																						uc003tid.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(2611-2613)AGA>ACA		NEDD4-like ubiquitin-protein ligase 1							46.0	49.0	48.0					7																	43496007		1977	4141	6118	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43496007G>C	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2612G>C	7.37:g.43496007G>C	ENSP00000379228:p.Arg871Thr					HECW1_uc011kbi.1_Missense_Mutation_p.R837T	p.R871T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			13	3217	+			871			Potential.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.2612G>C	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	35	5.461727	0.96240	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.34072	1.38;1.44	6.06	6.06	0.98353	.	0.041854	0.85682	D	0.000000	T	0.59932	0.2230	L	0.59436	1.845	0.80722	D	1	D;P	0.76494	0.999;0.864	D;P	0.78314	0.991;0.597	T	0.55360	-0.8153	10	0.54805	T	0.06	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	837;871	B4DH42;Q76N89	.;HECW1_HUMAN	T	871;837;871	ENSP00000379228:R871T;ENSP00000407774:R837T	ENSP00000265522:R871T	R	+	2	0	HECW1	43462532	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.882000	0.98803	0.655000	0.94253	AGA		PASS	0.582	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		11	44	11	44	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86416271	86416271	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr7:86416271C>A	ENST00000361669.2	+	3	2262	c.1163C>A	c.(1162-1164)tCc>tAc	p.S388Y	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.S388Y|GRM3_ENST00000536043.1_Missense_Mutation_p.S260Y|GRM3_ENST00000394720.2_Missense_Mutation_p.S386Y|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	388					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.S388Y(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GAGCAAGAGTCCAAGATCATG	0.542																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(1162-1164)TCC>TAC		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						156.0	129.0	138.0					7																	86416271		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86416271C>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1163C>A	7.37:g.86416271C>A	ENSP00000355316:p.Ser388Tyr					GRM3_uc010lef.2_Missense_Mutation_p.S386Y|GRM3_uc010leg.2_Missense_Mutation_p.S260Y|GRM3_uc010leh.2_Intron	p.S388Y	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	2262	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		388			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1163C>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634037	0.87660	.	.	ENSG00000198822	ENST00000361669;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.93	5.93	0.95920	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92642	0.7662	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.998	D	0.92879	0.6321	10	0.66056	D	0.02	.	19.3249	0.94258	0.0:1.0:0.0:0.0	.	260;388;388	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	Y	388;260;388;386	ENSP00000355316:S388Y;ENSP00000441407:S260Y;ENSP00000398767:S388Y;ENSP00000378209:S386Y	ENSP00000355316:S388Y	S	+	2	0	GRM3	86254207	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.764000	0.85297	2.805000	0.96524	0.655000	0.94253	TCC		PASS	0.542	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			29	137	29	137	---	---	---	---
CDK14	5218	broad.mit.edu	37	7	90419918	90419918	+	Silent	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr7:90419918G>A	ENST00000380050.3	+	5	626	c.495G>A	c.(493-495)gtG>gtA	p.V165V	CDK14_ENST00000436577.2_Silent_p.V36V|CDK14_ENST00000406263.1_Silent_p.V119V|CDK14_ENST00000265741.3_Silent_p.V147V			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.V147V(1)|p.V165V(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CTCTGAAGGTGATCAGGCTGC	0.403																																					GBM(83;1228 1256 8311 16577 31299)	uc003uky.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(1)	4						c.(493-495)GTG>GTA		PFTAIRE protein kinase 1							157.0	153.0	155.0					7																	90419918		2203	4300	6503	SO:0001819	synonymous_variant	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90419918G>A		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.495G>A	7.37:g.90419918G>A						CDK14_uc003ukt.1_Silent_p.V119V|CDK14_uc003ukv.1_Silent_p.V119V|CDK14_uc003uku.1_Silent_p.V119V|CDK14_uc003ukx.1_RNA|CDK14_uc003ukz.1_Silent_p.V147V|CDK14_uc010les.1_Silent_p.V119V|CDK14_uc011khl.1_Silent_p.V36V	p.V165V	NM_012395	NP_036527	O94921	CDK14_HUMAN			5	717	+			165			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Silent	SNP	ENST00000380050.3	37	c.495G>A																																																																																					PASS	0.403	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		43	73	43	73	---	---	---	---
FZD1	8321	broad.mit.edu	37	7	90895353	90895353	+	Silent	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr7:90895353C>T	ENST00000287934.2	+	1	1571	c.1158C>T	c.(1156-1158)gcC>gcT	p.A386A		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	386					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A386A(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			ACAAGTTCGCCGAGGACGGGG	0.602																																						uc003ula.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1156-1158)GCC>GCT		frizzled 1 precursor							90.0	87.0	88.0					7																	90895353		2203	4300	6503	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895353C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1158C>T	7.37:g.90895353C>T							p.A386A	NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1571	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		386			Extracellular (Potential).		A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.1158C>T	CCDS5620.1																																																																																				PASS	0.602	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		59	107	59	107	---	---	---	---
SLC13A1	6561	broad.mit.edu	37	7	122765635	122765635	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr7:122765635T>C	ENST00000194130.2	-	11	1267	c.1228A>G	c.(1228-1230)Aca>Gca	p.T410A	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	410					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.T410A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ATTTCTCCTGTAGGTGTAGTT	0.368																																						uc003vkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1228-1230)ACA>GCA		solute carrier family 13 (sodium/sulfate	Succinic acid(DB00139)						120.0	126.0	124.0					7																	122765635		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122765635T>C		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1228A>G	7.37:g.122765635T>C	ENSP00000194130:p.Thr410Ala					SLC13A1_uc010lks.2_Missense_Mutation_p.T286A	p.T410A	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN			11	1253	-			410					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.1228A>G	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	T	3.378	-0.127003	0.06795	.	.	ENSG00000081800	ENST00000194130	T	0.65549	-0.16	6.07	-0.667	0.11395	.	0.672309	0.15402	N	0.264261	T	0.42449	0.1203	L	0.31845	0.965	0.30665	N	0.754008	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.26608	-1.0098	10	0.22706	T	0.39	-23.549	5.5625	0.17152	0.114:0.2587:0.0:0.6273	.	410;410	A4D0X1;Q9BZW2	.;S13A1_HUMAN	A	410	ENSP00000194130:T410A	ENSP00000194130:T410A	T	-	1	0	SLC13A1	122552871	0.985000	0.35326	0.121000	0.21740	0.386000	0.30323	0.488000	0.22371	-0.322000	0.08615	0.533000	0.62120	ACA		PASS	0.368	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		87	143	87	143	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128492892	128492892	+	Silent	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr7:128492892C>T	ENST00000325888.8	+	37	6276	c.6015C>T	c.(6013-6015)ttC>ttT	p.F2005F	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.F1972F	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2005					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.F2005F(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGATCTCCTTCACCCCCAAGG	0.632																																						uc003vnz.3																			1	Substitution - coding silent(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(6013-6015)TTC>TTT		gamma filamin isoform a							57.0	64.0	62.0					7																	128492892		2043	4187	6230	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128492892C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6015C>T	7.37:g.128492892C>T						FLNC_uc003voa.3_Silent_p.F1972F	p.F2005F	NM_001458	NP_001449	Q14315	FLNC_HUMAN			37	6224	+			2005			Filamin 18.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.6015C>T	CCDS43644.1																																																																																				PASS	0.632	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			49	68	49	68	---	---	---	---
CNOT4	4850	broad.mit.edu	37	7	135048771	135048771	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr7:135048771C>A	ENST00000451834.1	-	11	1949	c.1666G>T	c.(1666-1668)Ggg>Tgg	p.G556W	CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000541284.1_Missense_Mutation_p.G559W|CNOT4_ENST00000423368.2_Intron			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G559W(2)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GCCCTTAGCCCGTCCTGCCAT	0.428																																					Ovarian(51;766 1130 5502 35047 50875)	uc011kpy.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1675-1677)GGG>TGG		CCR4-NOT transcription complex, subunit 4							242.0	214.0	223.0					7																	135048771		876	1991	2867	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135048771C>A	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.1666G>T	7.37:g.135048771C>A	ENSP00000388491:p.Gly556Trp					CNOT4_uc003vss.2_Intron|CNOT4_uc011kpz.1_Missense_Mutation_p.G556W|CNOT4_uc003vst.2_Intron	p.G559W	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			10	1767	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000451834.1	37	c.1675G>T	CCDS55167.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649963	0.67472	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000262563	T;T	0.74842	-0.85;-0.88	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.84840	0.5561	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.85139	0.0979	10	0.87932	D	0	-4.0407	20.1381	0.98040	0.0:1.0:0.0:0.0	.	556;559	E7ET38;F8VQP3	.;.	W	559;556;559	ENSP00000445508:G559W;ENSP00000388491:G556W	ENSP00000262563:G559W	G	-	1	0	CNOT4	134699311	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.487000	0.81328	2.763000	0.94921	0.650000	0.86243	GGG		PASS	0.428	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340670.1	NM_013316		70	208	70	208	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3855524	3855524	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr8:3855524G>A	ENST00000520002.1	-	5	1274	c.719C>T	c.(718-720)gCt>gTt	p.A240V	CSMD1_ENST00000537824.1_Missense_Mutation_p.A240V|CSMD1_ENST00000602723.1_Missense_Mutation_p.A240V|CSMD1_ENST00000400186.3_Missense_Mutation_p.A240V|CSMD1_ENST00000539096.1_Missense_Mutation_p.A240V|CSMD1_ENST00000602557.1_Missense_Mutation_p.A240V|CSMD1_ENST00000542608.1_Missense_Mutation_p.A240V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	240	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.A240V(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCGGGCTCAGCCAGAATGGT	0.562																																						uc011kwk.1																			1	Substitution - Missense(1)		lung(1)	breast(20)|large_intestine(5)	25						c.(718-720)GCT>GTT		CUB and Sushi multiple domains 1 precursor							53.0	56.0	55.0					8																	3855524		2113	4276	6389	SO:0001583	missense	64478					integral to membrane		g.chr8:3855524G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.719C>T	8.37:g.3855524G>A	ENSP00000430733:p.Ala240Val						p.A240V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	5	1109	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	240			Extracellular (Potential).|CUB 2.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.719C>T		.	.	.	.	.	.	.	.	.	.	G	12.78	2.041320	0.35989	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.45	5.45	0.79879	.	0.000000	0.26166	U	0.025941	T	0.36496	0.0969	L	0.39085	1.19	0.37070	D	0.898502	P	0.47484	0.896	P	0.51550	0.673	T	0.10823	-1.0613	10	0.17832	T	0.49	-19.2351	18.2724	0.90072	0.0:0.0:1.0:0.0	.	240	E5RIG2	.	V	240;240;102;240;240;240	ENSP00000383047:A240V;ENSP00000430733:A240V;ENSP00000441462:A240V;ENSP00000446243:A240V;ENSP00000441675:A240V	ENSP00000320445:A102V	A	-	2	0	CSMD1	3842932	1.000000	0.71417	0.111000	0.21465	0.599000	0.36880	7.637000	0.83313	2.551000	0.86045	0.655000	0.94253	GCT		PASS	0.562	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	7	7	7	---	---	---	---
KCTD9	54793	broad.mit.edu	37	8	25296837	25296837	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr8:25296837G>A	ENST00000221200.4	-	6	677	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C	KCTD9_ENST00000518067.1_5'Flank	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	153	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)			p.R153C(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TGTCCATGACGCAAGTAGTTC	0.353																																						uc003xeo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)CGT>TGT		potassium channel tetramerisation domain							41.0	40.0	41.0					8																	25296837		2203	4300	6503	SO:0001583	missense	54793					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:25296837G>A	BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"""BTB/POZ domain containing"""	22401	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 9"""			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.457C>T	8.37:g.25296837G>A	ENSP00000221200:p.Arg153Cys					PPP2R2A_uc003xek.2_Intron	p.R153C	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	6	615	-		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	153			BTB.		Q6NUM8|Q9NXV4	Missense_Mutation	SNP	ENST00000221200.4	37	c.457C>T	CCDS6048.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074180	0.76415	.	.	ENSG00000104756	ENST00000221200	T	0.55930	0.49	5.61	4.73	0.59995	BTB/POZ-like (2);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000001	D	0.84642	0.5517	H	0.99425	4.56	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91861	0.5499	10	0.72032	D	0.01	.	16.3263	0.82983	0.0:0.0:0.8669:0.1331	.	153	Q7L273	KCTD9_HUMAN	C	153	ENSP00000221200:R153C	ENSP00000221200:R153C	R	-	1	0	KCTD9	25352754	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.285000	0.51716	1.491000	0.48482	0.655000	0.94253	CGT		PASS	0.353	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634		7	67	7	67	---	---	---	---
GSR	2936	broad.mit.edu	37	8	30567337	30567337	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr8:30567337T>C	ENST00000221130.5	-	3	506	c.416A>G	c.(415-417)aAt>aGt	p.N139S	GSR_ENST00000414019.1_Missense_Mutation_p.N96S|GSR_ENST00000546342.1_Missense_Mutation_p.N139S|GSR_ENST00000541648.1_Missense_Mutation_p.N139S|GSR_ENST00000537535.1_Missense_Mutation_p.N139S	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	139					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)	p.N139S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	TTACCGCCAATTGAATTTACC	0.368																																						uc003xih.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(415-417)AAT>AGT		glutathione reductase precursor	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)						79.0	69.0	73.0					8																	30567337		2203	4300	6503	SO:0001583	missense	2936				cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30567337T>C		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.416A>G	8.37:g.30567337T>C	ENSP00000221130:p.Asn139Ser						p.N139S	NM_000637	NP_000628	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	3	507	-			139					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	37	c.416A>G	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752928	0.31046	.	.	ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535;ENST00000521479	T;T;T;T;T;D	0.82167	-0.26;-0.24;-0.27;-0.65;-0.66;-1.58	5.47	1.63	0.23807	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.211532	0.56097	N	0.000025	T	0.68613	0.3020	L	0.28504	0.86	0.34126	D	0.664655	B	0.09022	0.002	B	0.04013	0.001	T	0.60459	-0.7259	10	0.38643	T	0.18	-9.432	4.9033	0.13786	0.0:0.2423:0.1475:0.6101	.	139	P00390	GSHR_HUMAN	S	139;96;139;139;139;27	ENSP00000221130:N139S;ENSP00000390065:N96S;ENSP00000445516:N139S;ENSP00000444559:N139S;ENSP00000438845:N139S;ENSP00000430825:N27S	ENSP00000221130:N139S	N	-	2	0	GSR	30686879	1.000000	0.71417	0.982000	0.44146	0.988000	0.76386	1.064000	0.30579	0.046000	0.15833	0.477000	0.44152	AAT		PASS	0.368	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1			47	21	47	21	---	---	---	---
TRAM1	23471	broad.mit.edu	37	8	71506818	71506818	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr8:71506818T>C	ENST00000262213.2	-	6	662	c.493A>G	c.(493-495)Atg>Gtg	p.M165V	TRAM1_ENST00000536748.1_Missense_Mutation_p.M134V|TRAM1_ENST00000521425.1_Missense_Mutation_p.M79V|TRAM1_ENST00000521049.1_Intron	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	165	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.M165V(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AAAAACTTCATTTGAAATCTG	0.308																																					Ovarian(85;984 1334 5116 12432 40638)	uc003xyo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(493-495)ATG>GTG		translocation associated membrane protein 1							65.0	67.0	67.0					8																	71506818		2203	4298	6501	SO:0001583	missense	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71506818T>C	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.493A>G	8.37:g.71506818T>C	ENSP00000262213:p.Met165Val					TRAM1_uc011lfc.1_Missense_Mutation_p.M134V	p.M165V	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		6	663	-			165			Helical; (Potential).|TLC.		B4E0K2	Missense_Mutation	SNP	ENST00000262213.2	37	c.493A>G	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.559157	0.00910	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	D;D;D	0.84589	-1.87;-1.87;-1.87	6.05	4.9	0.64082	TRAM/LAG1/CLN8 homology domain (3);	0.071702	0.85682	D	0.000000	T	0.71013	0.3290	N	0.16602	0.42	0.46749	D	0.999184	B	0.06786	0.001	B	0.13407	0.009	T	0.62539	-0.6833	10	0.06099	T	0.92	-14.2942	12.1212	0.53893	0.0:0.0666:0.0:0.9334	.	165	Q15629	TRAM1_HUMAN	V	79;165;134	ENSP00000428052:M79V;ENSP00000262213:M165V;ENSP00000439359:M134V	ENSP00000262213:M165V	M	-	1	0	TRAM1	71669372	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	0.712000	0.25779	1.113000	0.41760	0.528000	0.53228	ATG		PASS	0.308	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294		52	106	52	106	---	---	---	---
FABP5	2171	broad.mit.edu	37	8	82195650	82195650	+	Silent	SNP	T	T	C	rs143988575		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr8:82195650T>C	ENST00000297258.6	+	2	362	c.129T>C	c.(127-129)tgT>tgC	p.C43C	FABP5_ENST00000396359.1_Silent_p.C9C|RP11-363E6.3_ENST00000517670.1_RNA|RP11-363E6.3_ENST00000518880.1_RNA	NM_001444.2	NP_001435.1	Q01469	FABP5_HUMAN	fatty acid binding protein 5 (psoriasis-associated)	43					epidermis development (GO:0008544)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|response to wounding (GO:0009611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	fatty acid binding (GO:0005504)|lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.C43C(1)		large_intestine(1)|lung(3)	4	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		Epithelial(68;0.102)			AGCCAGATTGTATCATCACTT	0.388																																						uc003yca.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(127-129)TGT>TGC		fatty acid binding protein 5							41.0	39.0	39.0					8																	82195650		2203	4297	6500	SO:0001819	synonymous_variant	2171				epidermis development	cytoplasm	fatty acid binding|protein binding|transporter activity	g.chr8:82195650T>C	M94856	CCDS6228.1	8q21.13	2013-03-01			ENSG00000164687	ENSG00000164687		"""Fatty acid binding protein family"""	3560	protein-coding gene	gene with protein product		605168				1512466	Standard	NM_001444		Approved	E-FABP, PA-FABP, KFABP	uc003yca.2	Q01469	OTTHUMG00000134313	ENST00000297258.6:c.129T>C	8.37:g.82195650T>C							p.C43C	NM_001444	NP_001435	Q01469	FABP5_HUMAN	Epithelial(68;0.102)		2	177	+	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		43					B2R4K0	Silent	SNP	ENST00000297258.6	37	c.129T>C	CCDS6228.1																																																																																				PASS	0.388	FABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259329.1	NM_001444		58	55	58	55	---	---	---	---
DCAF4L2	138009	broad.mit.edu	37	8	88885116	88885116	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr8:88885116C>A	ENST00000319675.3	-	1	1180	c.1084G>T	c.(1084-1086)Gac>Tac	p.D362Y		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	362								p.D362Y(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTGGGAATGTCGTTCTCCGAG	0.627																																						uc003ydz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1084-1086)GAC>TAC		WD repeat domain 21C							72.0	80.0	77.0					8																	88885116		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885116C>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1084G>T	8.37:g.88885116C>A	ENSP00000316496:p.Asp362Tyr						p.D362Y	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	1181	-			362						Missense_Mutation	SNP	ENST00000319675.3	37	c.1084G>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	5.320	0.244396	0.10077	.	.	ENSG00000176566	ENST00000319675	T	0.25085	1.82	1.37	-1.17	0.09648	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.580733	0.19481	N	0.113205	T	0.22551	0.0544	L	0.50333	1.59	0.09310	N	1	P	0.49307	0.922	P	0.53689	0.732	T	0.28427	-1.0044	10	0.05959	T	0.93	.	2.6819	0.05096	0.4725:0.3467:0.0:0.1807	.	362	Q8NA75	DC4L2_HUMAN	Y	362	ENSP00000316496:D362Y	ENSP00000316496:D362Y	D	-	1	0	DCAF4L2	88954232	0.988000	0.35896	0.001000	0.08648	0.035000	0.12851	-0.094000	0.11094	-0.770000	0.04614	-1.510000	0.00946	GAC		PASS	0.627	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		9	172	9	172	---	---	---	---
KCNS2	3788	broad.mit.edu	37	8	99440386	99440386	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr8:99440386A>G	ENST00000287042.4	+	2	529	c.179A>G	c.(178-180)gAt>gGt	p.D60G	KCNS2_ENST00000521839.1_Missense_Mutation_p.D60G	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	60					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.D60G(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GAGCTCTGCGATGACTACGAC	0.627																																					Pancreas(138;844 2489 9202 24627)	uc003yin.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(178-180)GAT>GGT		potassium voltage-gated channel,							100.0	82.0	88.0					8																	99440386		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440386A>G	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.179A>G	8.37:g.99440386A>G	ENSP00000287042:p.Asp60Gly						p.D60G	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	529	+	Breast(36;2.4e-06)		60			Cytoplasmic (Potential).		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.179A>G	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	a	21.7	4.188439	0.78789	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.78003	-1.14;-1.14	5.4	5.4	0.78164	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.89438	0.6715	M	0.88031	2.925	0.58432	D	0.999993	D	0.89917	1.0	D	0.87578	0.998	D	0.90405	0.4405	10	0.46703	T	0.11	.	15.1053	0.72315	1.0:0.0:0.0:0.0	.	60	Q9ULS6	KCNS2_HUMAN	G	60	ENSP00000287042:D60G;ENSP00000430712:D60G	ENSP00000287042:D60G	D	+	2	0	KCNS2	99509562	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	9.336000	0.96533	2.041000	0.60428	0.456000	0.33151	GAT		PASS	0.627	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		25	165	25	165	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139180147	139180147	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr8:139180147G>A	ENST00000395297.1	-	12	1419	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	417								p.P417S(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)			CCTGTCGCAGGGCAGTCCACG	0.507										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(1249-1251)CCT>TCT		hypothetical protein LOC51059							93.0	94.0	94.0					8																	139180147		1993	4173	6166	SO:0001583	missense	51059							g.chr8:139180147G>A	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.1249C>T	8.37:g.139180147G>A	ENSP00000378710:p.Pro417Ser	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.P318S|FAM135B_uc003yuz.2_RNA	p.P417S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		12	1420	-	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)		417					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1249C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572873	0.65765	.	.	ENSG00000147724	ENST00000395297	T	0.16196	2.36	5.78	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.35307	0.0927	M	0.75264	2.295	0.52099	D	0.999945	D	0.61697	0.99	P	0.54889	0.763	T	0.21245	-1.0251	10	0.54805	T	0.06	-14.3214	15.1995	0.73122	0.0:0.0:0.8579:0.1421	.	417	Q49AJ0	F135B_HUMAN	S	417	ENSP00000378710:P417S	ENSP00000276737:P417S	P	-	1	0	FAM135B	139249329	1.000000	0.71417	0.986000	0.45419	0.410000	0.31052	8.688000	0.91260	1.562000	0.49601	0.655000	0.94253	CCT		PASS	0.507	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		68	238	68	238	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143956549	143956549	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr8:143956549A>G	ENST00000292427.4	-	8	1254	c.1222T>C	c.(1222-1224)Tac>Cac	p.Y408H	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Missense_Mutation_p.Y479H	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	408					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.Y408H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CCCAGAGAGTAGAGGAACACG	0.632									Familial Hyperaldosteronism type I																													uc003yxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1222-1224)TAC>CAC		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						96.0	90.0	92.0					8																	143956549		2203	4300	6503	SO:0001583	missense	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143956549A>G	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1222T>C	8.37:g.143956549A>G	ENSP00000292427:p.Tyr408His					CYP11B1_uc010mex.2_Missense_Mutation_p.Y107H|CYP11B1_uc003yxh.2_Intron|CYP11B1_uc003yxj.2_Intron|CYP11B1_uc010mey.2_Missense_Mutation_p.Y479H	p.Y408H	NM_000497	NP_000488	P15538	C11B1_HUMAN			8	1229	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		408					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1222T>C	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	12.83	2.054976	0.36277	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000377675	T;T;T	0.70869	-0.52;-0.5;-0.5	4.22	3.0	0.34707	.	0.146295	0.31784	N	0.007063	T	0.80232	0.4585	M	0.75264	2.295	0.47511	D	0.999446	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.988	T	0.77472	-0.2575	10	0.49607	T	0.09	.	7.3809	0.26856	0.8794:0.0:0.1206:0.0	.	479;408;408	Q4VAR0;Q8TDD0;P15538	.;.;C11B1_HUMAN	H	86;408;479	ENSP00000430144:Y86H;ENSP00000292427:Y408H;ENSP00000366903:Y479H	ENSP00000292427:Y408H	Y	-	1	0	CYP11B1	143953551	0.999000	0.42202	0.179000	0.23059	0.005000	0.04900	5.621000	0.67743	0.547000	0.28938	-0.366000	0.07423	TAC		PASS	0.632	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			98	83	98	83	---	---	---	---
GRHPR	9380	broad.mit.edu	37	9	37424897	37424897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr9:37424897C>T	ENST00000318158.6	+	2	224	c.139C>T	c.(139-141)Cga>Tga	p.R47*	GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000607784.1_Nonsense_Mutation_p.R47*	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	47					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)	p.R47*(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GGAGCTAGAGCGAGGTGTGGC	0.667																																						uc003zzu.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(139-141)CGA>TGA		glyoxylate reductase/hydroxypyruvate reductase							51.0	48.0	49.0					9																	37424897		2203	4300	6503	SO:0001587	stop_gained	9380				cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	g.chr9:37424897C>T	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.139C>T	9.37:g.37424897C>T	ENSP00000313432:p.Arg47*					GRHPR_uc010mlu.2_5'UTR|GRHPR_uc010mlv.1_5'UTR|GRHPR_uc003zzt.1_5'UTR	p.R47*	NM_012203	NP_036335	Q9UBQ7	GRHPR_HUMAN		GBM - Glioblastoma multiforme(29;0.00687)	2	180	+			47					Q5T945|Q9H3E9|Q9H636|Q9UKX1	Nonsense_Mutation	SNP	ENST00000318158.6	37	c.139C>T	CCDS6609.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949608	0.53186	.	.	ENSG00000137106	ENST00000377824;ENST00000318158	.	.	.	5.98	5.02	0.67125	.	0.541377	0.19737	N	0.107208	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-7.4094	8.3544	0.32321	0.3461:0.5374:0.1164:0.0	.	.	.	.	X	47	.	ENSP00000313432:R47X	R	+	1	2	GRHPR	37414897	0.270000	0.24152	0.932000	0.37286	0.022000	0.10575	0.812000	0.27211	2.861000	0.98227	0.650000	0.86243	CGA		PASS	0.667	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		16	26	16	26	---	---	---	---
C9orf135	138255	broad.mit.edu	37	9	72459523	72459523	+	Silent	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr9:72459523G>T	ENST00000377197.3	+	2	330	c.243G>T	c.(241-243)ctG>ctT	p.L81L	C9orf135_ENST00000466872.2_Intron|C9orf135_ENST00000527647.1_Silent_p.L81L	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	81						integral component of membrane (GO:0016021)		p.L81L(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						ATCGGCGACTGGGAACCGATG	0.388																																						uc004ahl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(241-243)CTG>CTT		hypothetical protein LOC138255							78.0	81.0	80.0					9																	72459523		2203	4300	6503	SO:0001819	synonymous_variant	138255					integral to membrane		g.chr9:72459523G>T		CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.243G>T	9.37:g.72459523G>T						C9orf135_uc011lrw.1_Intron|C9orf135_uc010moq.2_Intron|C9orf135_uc011lrx.1_Intron|C9orf135_uc010mop.2_Silent_p.L81L	p.L81L	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN			2	308	+			81			Extracellular (Potential).		A7E2U4|B2RN61	Silent	SNP	ENST00000377197.3	37	c.243G>T	CCDS35041.1	.	.	.	.	.	.	.	.	.	.	T	0.654	-0.808218	0.02819	.	.	ENSG00000204711	ENST00000480564	.	.	.	5.35	3.04	0.35103	.	.	.	.	.	T	0.52901	0.1763	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41070	-0.9529	4	.	.	.	-10.1871	4.4576	0.11650	0.0:0.1623:0.1694:0.6683	.	.	.	.	W	55	.	.	G	+	1	0	C9orf135	71649343	0.942000	0.31987	0.996000	0.52242	0.253000	0.25986	0.146000	0.16180	0.153000	0.19213	-0.256000	0.11100	GGG		PASS	0.388	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052591.1	NM_001010940		5	89	5	89	---	---	---	---
SLC27A4	10999	broad.mit.edu	37	9	131110861	131110861	+	Silent	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr9:131110861C>T	ENST00000300456.4	+	4	711	c.594C>T	c.(592-594)ctC>ctT	p.L198L	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	198					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.L198L(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						ACCCCTCGCTCAGCCTCTTCT	0.627																																					Pancreas(107;1554 2241 10946 12953)	uc004but.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(592-594)CTC>CTT		solute carrier family 27 (fatty acid							65.0	68.0	67.0					9																	131110861		2203	4300	6503	SO:0001819	synonymous_variant	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131110861C>T	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.594C>T	9.37:g.131110861C>T						SLC27A4_uc004buu.2_Intron	p.L198L	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN			4	878	+			198					A8K2F7|O95186|Q96G53	Silent	SNP	ENST00000300456.4	37	c.594C>T	CCDS6899.1																																																																																				PASS	0.627	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			50	35	50	35	---	---	---	---
POMT1	10585	broad.mit.edu	37	9	134393912	134393912	+	Silent	SNP	C	C	T	rs144385159	byFrequency	TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr9:134393912C>T	ENST00000372228.3	+	14	1598	c.1419C>T	c.(1417-1419)tcC>tcT	p.S473S	RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000423007.1_Silent_p.S451S|POMT1_ENST00000354713.4_Silent_p.S421S|POMT1_ENST00000404875.2_Silent_p.S334S|POMT1_ENST00000541219.1_Silent_p.S229S|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000341012.7_Silent_p.S397S|POMT1_ENST00000419118.2_Silent_p.S299S|POMT1_ENST00000402686.3_Silent_p.S451S	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	473	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)	p.S473S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TGAACACTTCCGCTGTCTTAA	0.537																																						uc004cav.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1417-1419)TCC>TCT		protein-O-mannosyltransferase 1 isoform a							187.0	177.0	180.0					9																	134393912		2203	4300	6503	SO:0001819	synonymous_variant	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134393912C>T	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.1419C>T	9.37:g.134393912C>T						POMT1_uc004cax.2_Silent_p.S451S|POMT1_uc011mcj.1_Silent_p.S229S|POMT1_uc004cau.2_Silent_p.S451S|POMT1_uc004caw.2_Silent_p.S397S|POMT1_uc011mck.1_Silent_p.S334S|POMT1_uc011mcl.1_Silent_p.S299S|POMT1_uc011mcm.1_Silent_p.S421S|POMT1_uc011mcn.1_Silent_p.S176S	p.S473S	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	14	1621	+		Myeloproliferative disorder(178;0.204)	473			MIR 3.		B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	c.1419C>T	CCDS6943.1																																																																																				PASS	0.537	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		183	107	183	107	---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140880881	140880881	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr9:140880881C>T	ENST00000371372.1	+	14	1931	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	CACNA1B_ENST00000371357.1_Missense_Mutation_p.R597W|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R596W|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R597W|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R596W	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	596					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.R596W(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGCTCCCTGCGGAACCTGGT	0.587																																						uc004cog.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|large_intestine(2)|ovary(1)	6						c.(1786-1788)CGG>TGG		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						53.0	60.0	57.0					9																	140880881		2131	4257	6388	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140880881C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1786C>T	9.37:g.140880881C>T	ENSP00000360423:p.Arg596Trp					CACNA1B_uc011mfd.1_Missense_Mutation_p.R127W	p.R596W	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	14	1931	+	all_cancers(76;0.166)		596			Cytoplasmic (Potential).|II.		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1786C>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153266	0.57259	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23;-5.23	4.35	-0.358	0.12575	.	0.000000	0.85682	D	0.000000	D	0.99411	0.9792	H	0.98314	4.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99505	1.0954	10	0.87932	D	0	.	14.1787	0.65559	0.6365:0.3635:0.0:0.0	.	596;596	B1AQK4;B1AQK6	.;.	W	596;596;596;597;597	ENSP00000360423:R596W;ENSP00000277551:R596W;ENSP00000360414:R596W;ENSP00000360408:R597W;ENSP00000360406:R597W	ENSP00000277551:R596W	R	+	1	2	CACNA1B	140000702	0.998000	0.40836	0.873000	0.34254	0.877000	0.50540	0.796000	0.26986	0.016000	0.14998	-0.704000	0.03662	CGG		PASS	0.587	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		3	25	3	25	---	---	---	---
FRMD4A	55691	broad.mit.edu	37	10	13900908	13900908	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr10:13900908G>A	ENST00000357447.2	-	3	418	c.50C>T	c.(49-51)aCg>aTg	p.T17M	FRMD4A_ENST00000358621.4_Missense_Mutation_p.T2M|FRMD4A_ENST00000342409.2_Missense_Mutation_p.T33M|FRMD4A_ENST00000378503.1_Missense_Mutation_p.T17M	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	17					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.T17M(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCGGCCCTCCGTCATCTAAGA	0.498																																						uc001ims.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)|pancreas(1)	3						c.(49-51)ACG>ATG		FERM domain containing 4A							121.0	118.0	119.0					10																	13900908		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13900908G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.50C>T	10.37:g.13900908G>A	ENSP00000350032:p.Thr17Met					FRMD4A_uc009xjf.1_Missense_Mutation_p.T17M|FRMD4A_uc001imt.1_Missense_Mutation_p.T50M|FRMD4A_uc001imu.1_Missense_Mutation_p.T33M	p.T17M	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN			3	402	-			17					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.50C>T	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489144	0.84962	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	D;D;D;D;D	0.84146	-1.81;-1.78;-1.78;-1.75;-1.77	5.4	5.4	0.78164	Band 4.1 domain (1);	0.000000	0.85682	D	0.000000	D	0.88206	0.6374	L	0.32530	0.975	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71656	0.912;0.932;0.974	D	0.86936	0.2076	10	0.34782	T	0.22	-9.7152	18.0047	0.89207	0.0:0.0:1.0:0.0	.	33;50;17	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	M	2;17;17;50;33	ENSP00000351438:T2M;ENSP00000350032:T17M;ENSP00000367764:T17M;ENSP00000264546:T50M;ENSP00000344237:T33M	ENSP00000264546:T50M	T	-	2	0	FRMD4A	13940914	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.341000	0.79300	2.538000	0.85594	0.585000	0.79938	ACG		PASS	0.498	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		9	147	9	147	---	---	---	---
MLLT10	8028	broad.mit.edu	37	10	21959404	21959404	+	Silent	SNP	T	T	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr10:21959404T>A	ENST00000307729.7	+	10	1000	c.822T>A	c.(820-822)tcT>tcA	p.S274S	MLLT10_ENST00000377072.3_Silent_p.S274S|MLLT10_ENST00000446906.2_Silent_p.S274S|MLLT10_ENST00000377059.3_Silent_p.S274S			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	274	Self-association.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S274S(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GCAACAACTCTATATCTGGAT	0.368			T	"""MLL, PICALM, CDK6"""	AL																																	uc001iqs.2				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	MLL|PICALM|CDK6		AL		2	Substitution - coding silent(2)		lung(2)	lung(1)|skin(1)	2						c.(820-822)TCT>TCA		myeloid/lymphoid or mixed-lineage leukemia							53.0	51.0	52.0					10																	21959404		2203	4300	6503	SO:0001819	synonymous_variant	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21959404T>A	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.822T>A	10.37:g.21959404T>A						MLLT10_uc001iqt.2_Silent_p.S274S|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Silent_p.S274S|MLLT10_uc001ira.2_5'UTR|MLLT10_uc001iqz.2_Silent_p.S29S	p.S274S	NM_004641	NP_004632	P55197	AF10_HUMAN			10	1170	+			274			Self-association.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Silent	SNP	ENST00000307729.7	37	c.822T>A	CCDS55708.1																																																																																				PASS	0.368	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			33	23	33	23	---	---	---	---
SLC18A2	6571	broad.mit.edu	37	10	119013587	119013587	+	Silent	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr10:119013587C>T	ENST00000298472.5	+	5	695	c.552C>T	c.(550-552)ttC>ttT	p.F184F	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	184					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)	p.F184F(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GCTATGCCTTCCTGCTGATTG	0.602																																						uc001ldd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(550-552)TTC>TTT		solute carrier family 18 (vesicular monoamine),	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						148.0	131.0	137.0					10																	119013587		2203	4300	6503	SO:0001819	synonymous_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119013587C>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.552C>T	10.37:g.119013587C>T						SLC18A2_uc009xyy.1_5'UTR	p.F184F	NM_003054	NP_003045	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	5	583	+		Colorectal(252;0.19)	184			Lumenal, vesicle (Potential).		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	c.552C>T	CCDS7599.1																																																																																				PASS	0.602	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		146	76	146	76	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1016826	1016826	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr11:1016826G>T	ENST00000421673.2	-	31	6025	c.5975C>A	c.(5974-5976)aCc>aAc	p.T1992N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1992	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.T1992N(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATAGGTAGTGGTGGTCTGGAA	0.552																																						uc001lsw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(5974-5976)ACC>AAC		mucin 6, gastric							1499.0	1490.0	1493.0					11																	1016826		2203	4298	6501	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016826G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5975C>A	11.37:g.1016826G>T	ENSP00000406861:p.Thr1992Asn						p.T1992N	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6026	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1992			Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.5975C>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078293	0.36662	.	.	ENSG00000184956	ENST00000421673	T	0.24908	1.83	3.08	3.08	0.35506	.	.	.	.	.	T	0.23370	0.0565	L	0.28458	0.855	0.09310	N	1	D	0.54207	0.965	P	0.47864	0.559	T	0.07597	-1.0764	9	0.21014	T	0.42	.	12.447	0.55657	0.0:0.0:1.0:0.0	.	1992	Q6W4X9	MUC6_HUMAN	N	1992	ENSP00000406861:T1992N	ENSP00000406861:T1992N	T	-	2	0	MUC6	1006826	0.041000	0.20044	0.006000	0.13384	0.007000	0.05969	1.102000	0.31050	1.712000	0.51347	0.306000	0.20318	ACC		PASS	0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		19	676	19	676	---	---	---	---
OR51A4	401666	broad.mit.edu	37	11	4967668	4967668	+	Silent	SNP	C	C	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr11:4967668C>G	ENST00000380373.2	-	1	688	c.663G>C	c.(661-663)ctG>ctC	p.L221L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L221L(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTGAGGATCAGGGTGTAAG	0.428																																						uc010qys.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(661-663)CTG>CTC		olfactory receptor, family 51, subfamily A,							90.0	78.0	82.0					11																	4967668		2200	4295	6495	SO:0001819	synonymous_variant	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967668C>G	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.663G>C	11.37:g.4967668C>G							p.L221L	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	663	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	221			Cytoplasmic (Potential).			Silent	SNP	ENST00000380373.2	37	c.663G>C	CCDS31367.1																																																																																				PASS	0.428	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		45	101	45	101	---	---	---	---
OR56A4	120793	broad.mit.edu	37	11	6023374	6023374	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr11:6023374G>T	ENST00000330728.4	-	1	1050	c.1005C>A	c.(1003-1005)caC>caA	p.H335Q		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H335Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAATGAGGTGGTGCAGGATGT	0.493																																						uc010qzv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1003-1005)CAC>CAA		olfactory receptor, family 56, subfamily A,							87.0	86.0	87.0					11																	6023374		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023374G>T	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.1005C>A	11.37:g.6023374G>T	ENSP00000328215:p.His335Gln						p.H335Q	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	1005	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	283			Helical; Name=7; (Potential).		B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.1005C>A	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232220	0.39498	.	.	ENSG00000183389	ENST00000330728	T	0.00084	8.75	3.87	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38326	U	0.001733	T	0.00496	0.0016	M	0.89095	3.005	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.24368	-1.0162	10	0.87932	D	0	.	9.6492	0.39886	0.194:0.0:0.806:0.0	.	283	Q8NGH8	O56A4_HUMAN	Q	335	ENSP00000328215:H335Q	ENSP00000328215:H335Q	H	-	3	2	OR56A4	5979950	0.000000	0.05858	0.999000	0.59377	0.953000	0.61014	-0.635000	0.05471	0.920000	0.36970	0.655000	0.94253	CAC		PASS	0.493	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		38	55	38	55	---	---	---	---
OR6A2	8590	broad.mit.edu	37	11	6816012	6816012	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr11:6816012G>C	ENST00000332601.3	-	1	1116	c.928C>G	c.(928-930)Ctg>Gtg	p.L310V		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	310					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L310V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TACAGGTGCAGAGTACAGCAT	0.448																																						uc001mes.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(928-930)CTG>GTG		olfactory receptor, family 6, subfamily A,							124.0	121.0	122.0					11																	6816012		2201	4296	6497	SO:0001583	missense	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816012G>C	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.928C>G	11.37:g.6816012G>C	ENSP00000330384:p.Leu310Val						p.L310V	NM_003696	NP_003687	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	1128	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	310			Cytoplasmic (Potential).		Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	c.928C>G	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859357	0.51376	.	.	ENSG00000184933	ENST00000332601	T	0.48836	0.8	4.92	-0.107	0.13592	.	0.656582	0.12554	N	0.458824	T	0.33059	0.0850	L	0.48877	1.53	0.09310	N	1	B	0.31318	0.319	B	0.25884	0.064	T	0.14924	-1.0455	10	0.23302	T	0.38	.	7.1655	0.25687	0.4861:0.0:0.5139:0.0	.	310	O95222	OR6A2_HUMAN	V	310	ENSP00000330384:L310V	ENSP00000330384:L310V	L	-	1	2	OR6A2	6772588	.	.	0.377000	0.26055	0.944000	0.59088	.	.	0.100000	0.17581	0.655000	0.94253	CTG		PASS	0.448	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		56	92	56	92	---	---	---	---
OR10A4	283297	broad.mit.edu	37	11	6898608	6898608	+	Missense_Mutation	SNP	G	G	A	rs199861369		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr11:6898608G>A	ENST00000379829.2	+	1	753	c.730G>A	c.(730-732)Gcc>Acc	p.A244T		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	244					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A244T(2)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCTGTTCCGCCCACCTCTT	0.527																																						uc010rat.1																			2	Substitution - Missense(2)		prostate(1)|lung(1)	ovary(1)	1						c.(730-732)GCC>ACC		olfactory receptor, family 10, subfamily A,			THR/ALA	1,4401	2.1+/-5.4	0,1,2200	200.0	149.0	167.0		730	3.2	1.0	11		167	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR10A4	NM_207186.2	58	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	benign	244/316	6898608	2,12992	2201	4296	6497	SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898608G>A	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.730G>A	11.37:g.6898608G>A	ENSP00000369157:p.Ala244Thr						p.A244T	NM_207186	NP_997069	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	730	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	244			Helical; Name=6; (Potential).		B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	c.730G>A	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	g	12.73	2.025628	0.35701	2.27E-4	1.16E-4	ENSG00000170782	ENST00000379829	T	0.37235	1.21	4.32	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000447	T	0.33990	0.0882	L	0.59436	1.845	0.22601	N	0.998948	B	0.09022	0.002	B	0.17098	0.017	T	0.36578	-0.9742	10	0.87932	D	0	.	9.8659	0.41142	0.0:0.0:0.1728:0.8271	.	244	Q9H209	O10A4_HUMAN	T	244	ENSP00000369157:A244T	ENSP00000369157:A244T	A	+	1	0	OR10A4	6855184	0.615000	0.27026	1.000000	0.80357	0.964000	0.63967	0.780000	0.26760	0.982000	0.38575	-0.272000	0.10252	GCC		PASS	0.527	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		82	115	82	115	---	---	---	---
AMPD3	272	broad.mit.edu	37	11	10503750	10503750	+	Silent	SNP	A	A	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr11:10503750A>G	ENST00000396554.3	+	4	935	c.594A>G	c.(592-594)gcA>gcG	p.A198A	AMPD3_ENST00000444303.2_Silent_p.A30A	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	189					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.A198A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CGGATACTGCACCTCCGGAAG	0.622																																						uc001mio.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(565-567)GCA>GCG		adenosine monophosphate deaminase 3 isoform 1B							41.0	46.0	45.0					11																	10503750		2199	4294	6493	SO:0001819	synonymous_variant	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10503750A>G	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.594A>G	11.37:g.10503750A>G						AMPD3_uc010rbz.1_Silent_p.A30A|AMPD3_uc001min.1_Silent_p.A198A|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Silent_p.A189A|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Silent_p.A196A|AMPD3_uc009yfy.2_Silent_p.A189A	p.A189A	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	4	902	+			189					A0AUX0|B7Z2S2|B7Z763|B7Z877	Silent	SNP	ENST00000396554.3	37	c.567A>G	CCDS7802.1																																																																																				PASS	0.622	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		43	73	43	73	---	---	---	---
INSC	387755	broad.mit.edu	37	11	15247263	15247263	+	Silent	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr11:15247263G>A	ENST00000379554.3	+	9	1246	c.1200G>A	c.(1198-1200)acG>acA	p.T400T	INSC_ENST00000530161.1_Silent_p.T353T|INSC_ENST00000528567.1_Silent_p.T353T|INSC_ENST00000379556.3_Silent_p.T353T|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Silent_p.T311T|INSC_ENST00000424273.1_Silent_p.T311T	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	400					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.T400T(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CCAACATCACGTTCTTTGACA	0.527																																						uc001mly.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(1198-1200)ACG>ACA		inscuteable isoform a							71.0	69.0	70.0					11																	15247263		1982	4166	6148	SO:0001819	synonymous_variant	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15247263G>A	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1200G>A	11.37:g.15247263G>A						INSC_uc001mlz.2_Silent_p.T353T|INSC_uc001mma.2_Silent_p.T353T|INSC_uc010rcs.1_Silent_p.T388T|INSC_uc001mmb.2_Silent_p.T353T|INSC_uc001mmc.2_Silent_p.T311T	p.T400T	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			9	1246	+			400					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Silent	SNP	ENST00000379554.3	37	c.1200G>A	CCDS41621.1																																																																																				PASS	0.527	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		24	31	24	31	---	---	---	---
WT1	7490	broad.mit.edu	37	11	32421532	32421532	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr11:32421532A>C	ENST00000379079.2	-	6	697	c.424T>G	c.(424-426)Tac>Gac	p.Y142D	WT1_ENST00000332351.3_Missense_Mutation_p.Y354D|WT1_ENST00000448076.3_Missense_Mutation_p.Y354D|WT1_ENST00000530998.1_Missense_Mutation_p.Y125D	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	286					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Y142D(1)|p.Y142N(1)|p.Y286D(1)|p.Y286N(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGTATTCTGTATTGGGCTCCG	0.577			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													uc001mtn.1			yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	D|Mis|N|F|S	Wilms tumour 1 gene			O	EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	EWSR1/WT1(231)	4	Substitution - Missense(4)		lung(2)|kidney(2)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687						c.(1060-1062)TAC>GAC		Wilms tumor 1 isoform D							283.0	235.0	252.0					11																	32421532		2202	4299	6501	SO:0001583	missense	7490	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32421532A>C		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.424T>G	11.37:g.32421532A>C	ENSP00000368370:p.Tyr142Asp					WT1_uc001mtl.1_Missense_Mutation_p.Y142D|WT1_uc001mtm.1_Missense_Mutation_p.Y125D|WT1_uc001mto.1_Missense_Mutation_p.Y354D|WT1_uc001mtp.1_Missense_Mutation_p.Y337D|WT1_uc001mtq.1_Missense_Mutation_p.Y337D|WT1_uc009yjs.1_RNA	p.Y354D	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		6	1256	-	Breast(20;0.247)		286					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	c.1060T>G	CCDS55751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.94|17.94	3.512330|3.512330	0.64522|0.64522	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000527882|ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076;ENST00000527775	.|D;D;D;D;D;D	.|0.89875	.|-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	5.98|5.98	5.98|5.98	0.97165|0.97165	.|Wilm&apos (1);s tumour protein, N-terminal (1);	.|0.000000	.|0.64402	.|U	.|0.000008	D|D	0.93350|0.93350	0.7880|0.7880	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0;0.999	.|D;D;D;D;D	.|0.97110	.|0.999;1.0;0.999;0.999;0.999	D|D	0.93893|0.93893	0.7181|0.7181	5|10	.|0.87932	.|D	.|0	.|.	16.4781|16.4781	0.84144|0.84144	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|342;286;359;125;142	.|P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.|.;WT1_HUMAN;.;.;.	R|D	44|142;354;125;337;354;105	.|ENSP00000368370:Y142D;ENSP00000331327:Y354D;ENSP00000435307:Y125D;ENSP00000415516:Y337D;ENSP00000413452:Y354D;ENSP00000435351:Y105D	.|ENSP00000331327:Y354D	I|Y	-|-	2|1	0|0	WT1|WT1	32378108|32378108	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.113000|0.113000	0.19764|0.19764	8.495000|8.495000	0.90481|0.90481	2.288000|2.288000	0.76882|0.76882	0.528000|0.528000	0.53228|0.53228	ATA|TAC		PASS	0.577	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		50	86	50	86	---	---	---	---
PEX16	9409	broad.mit.edu	37	11	45935463	45935463	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr11:45935463C>A	ENST00000378750.5	-	9	1037	c.794G>T	c.(793-795)gGc>gTc	p.G265V	PEX16_ENST00000241041.3_Missense_Mutation_p.G265V|PEX16_ENST00000532554.1_5'Flank|PEX16_ENST00000532681.1_Missense_Mutation_p.G170V			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	265	Interaction with PEX19.				ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)	p.G265V(1)		large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CCGGGTCAGGCCCTTTCTGTC	0.652																																						uc001nbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(793-795)GGC>GTC		peroxisomal biogenesis factor 16 isoform 1							34.0	36.0	35.0					11																	45935463		2203	4298	6501	SO:0001583	missense	9409				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding	g.chr11:45935463C>A	AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.794G>T	11.37:g.45935463C>A	ENSP00000368024:p.Gly265Val					PEX16_uc001nbt.2_Missense_Mutation_p.G265V	p.G265V	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN		GBM - Glioblastoma multiforme(35;0.223)	9	1106	-			265			Interaction with PEX19.|Cytoplasmic (Potential).		Q9BWB9	Missense_Mutation	SNP	ENST00000378750.5	37	c.794G>T	CCDS31472.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806402	0.31961	.	.	ENSG00000121680	ENST00000241041;ENST00000378750;ENST00000532681;ENST00000533151	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.37	3.48	0.39840	.	0.814025	0.11784	N	0.529919	T	0.16938	0.0407	L	0.43152	1.355	0.38024	D	0.934944	B;B	0.28584	0.036;0.216	B;B	0.30401	0.032;0.115	T	0.07233	-1.0783	10	0.16420	T	0.52	-6.7905	6.7024	0.23232	0.0:0.5856:0.0:0.4144	.	265;265	Q9Y5Y5;Q9Y5Y5-2	PEX16_HUMAN;.	V	265;265;170;161	ENSP00000241041:G265V;ENSP00000368024:G265V;ENSP00000434654:G170V;ENSP00000433045:G161V	ENSP00000241041:G265V	G	-	2	0	PEX16	45892039	0.932000	0.31603	1.000000	0.80357	0.980000	0.70556	1.050000	0.30404	0.626000	0.30322	0.478000	0.44815	GGC		PASS	0.652	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	NM_057174		10	15	10	15	---	---	---	---
OR8H1	219469	broad.mit.edu	37	11	56058339	56058339	+	Nonsense_Mutation	SNP	G	G	T	rs371274663		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr11:56058339G>T	ENST00000313022.2	-	1	227	c.200C>A	c.(199-201)tCa>tAa	p.S67*		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S67*(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GTCAATAAATGACAAGTGAGT	0.418																																						uc010rje.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(199-201)TCA>TAA		olfactory receptor, family 8, subfamily H,							267.0	255.0	259.0					11																	56058339		2201	4296	6497	SO:0001587	stop_gained	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058339G>T	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.200C>A	11.37:g.56058339G>T	ENSP00000323595:p.Ser67*						p.S67*	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	200	-	Esophageal squamous(21;0.00448)		67			Helical; Name=2; (Potential).		B2RNI7|Q6IFC5	Nonsense_Mutation	SNP	ENST00000313022.2	37	c.200C>A	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	G	8.879	0.951115	0.18431	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	.	.	.	3.94	3.94	0.45596	.	0.000000	0.43110	D	0.000607	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.41	0.55461	0.0:0.1703:0.8297:0.0	.	.	.	.	X	67;63	.	ENSP00000323595:S67X	S	-	2	0	OR8H1	55814915	0.806000	0.28996	0.263000	0.24496	0.002000	0.02628	4.564000	0.60830	2.147000	0.66899	0.544000	0.68410	TCA		PASS	0.418	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		223	391	223	391	---	---	---	---
USP28	57646	broad.mit.edu	37	11	113675696	113675696	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr11:113675696G>A	ENST00000003302.4	-	20	2541	c.2473C>T	c.(2473-2475)Ctt>Ttt	p.L825F	USP28_ENST00000545540.1_Missense_Mutation_p.L668F|USP28_ENST00000260188.5_Missense_Mutation_p.L793F|USP28_ENST00000544967.1_Missense_Mutation_p.L501F	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	825					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L825F(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACATGCTGAAGTCGAGGATCA	0.433																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(2473-2475)CTT>TTT		ubiquitin specific protease 28							95.0	89.0	91.0					11																	113675696		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113675696G>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2473C>T	11.37:g.113675696G>A	ENSP00000003302:p.Leu825Phe					USP28_uc001pog.2_Missense_Mutation_p.L501F|USP28_uc010rwy.1_Missense_Mutation_p.L668F|USP28_uc001poi.2_Missense_Mutation_p.L148F	p.L825F	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	20	2506	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	825					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.2473C>T	CCDS31680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.843756|4.843756	0.91197|0.91197	.|.	.|.	ENSG00000048028|ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540|ENST00000538224	T;T;T;T|.	0.73897|.	-0.16;-0.25;-0.79;-0.21|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73171|0.73171	0.3553|0.3553	M|M	0.69358|0.69358	2.11|2.11	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;0.999|.	T|T	0.71182|0.71182	-0.4668|-0.4668	10|5	0.87932|.	D|.	0|.	-18.0767|-18.0767	15.5057|15.5057	0.75739|0.75739	0.0678:0.0:0.9322:0.0|0.0678:0.0:0.9322:0.0	.|.	668;825;501|.	B4E3L3;Q96RU2;G3V1N5|.	.;UBP28_HUMAN;.|.	F|I	825;793;501;668|179	ENSP00000003302:L825F;ENSP00000260188:L793F;ENSP00000442431:L501F;ENSP00000444991:L668F|.	ENSP00000003302:L825F|.	L|T	-|-	1|2	0|0	USP28|USP28	113180906|113180906	1.000000|1.000000	0.71417|0.71417	0.912000|0.912000	0.35992|0.35992	0.988000|0.988000	0.76386|0.76386	4.281000|4.281000	0.58965|0.58965	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	CTT|ACT		PASS	0.433	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			53	88	53	88	---	---	---	---
OR8D2	283160	broad.mit.edu	37	11	124189986	124189986	+	Silent	SNP	C	C	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr11:124189986C>G	ENST00000357438.2	-	1	198	c.108G>C	c.(106-108)gtG>gtC	p.V36V		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V36V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CCACTGTGACCACATATATTC	0.453																																						uc010sah.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)|pancreas(1)	3						c.(106-108)GTG>GTC		olfactory receptor, family 8, subfamily D,							87.0	86.0	86.0					11																	124189986		2201	4299	6500	SO:0001819	synonymous_variant	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189986C>G	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.108G>C	11.37:g.124189986C>G							p.V36V	NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	108	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	36			Helical; Name=1; (Potential).		B9EH49|Q6IFR0	Silent	SNP	ENST00000357438.2	37	c.108G>C	CCDS31707.1																																																																																				PASS	0.453	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		49	120	49	120	---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128843255	128843255	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr11:128843255G>A	ENST00000310343.9	-	21	3103	c.3104C>T	c.(3103-3105)cCt>cTt	p.P1035L	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P686L|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P686L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1035	Poly-Pro.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.P686L(1)|p.P1035L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATTTTTCGGAGGCGGTGGTGG	0.527																																						uc009zcp.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)	5						c.(3103-3105)CCT>CTT		Rho GTPase-activating protein isoform 1							108.0	118.0	114.0					11																	128843255		2198	4297	6495	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128843255G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.3104C>T	11.37:g.128843255G>A	ENSP00000310561:p.Pro1035Leu					ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Missense_Mutation_p.P686L	p.P1035L	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			21	3104	-			1035			Poly-Pro.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.3104C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409303	0.83340	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.19250	2.16;2.16;2.16	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.04440	-1.0951	10	0.54805	T	0.06	.	20.0027	0.97425	0.0:0.0:1.0:0.0	.	1035	A7KAX9	RHG32_HUMAN	L	1035;686;686	ENSP00000310561:P1035L;ENSP00000376425:P686L;ENSP00000432862:P686L	ENSP00000310561:P1035L	P	-	2	0	ARHGAP32	128348465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.710000	0.74670	2.733000	0.93635	0.655000	0.94253	CCT		PASS	0.527	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		121	157	121	157	---	---	---	---
SLC2A3	6515	broad.mit.edu	37	12	8077098	8077098	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr12:8077098C>T	ENST00000075120.7	-	8	1216	c.976G>A	c.(976-978)Gtg>Atg	p.V326M		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	326					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.V326M(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GCCCTTTCCACCAGAAATAGC	0.433																																					Colon(96;424 1461 14416 20933 23688)	uc001qtr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(976-978)GTG>ATG		solute carrier family 2 (facilitated glucose							26.0	29.0	28.0					12																	8077098		2191	4278	6469	SO:0001583	missense	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8077098C>T	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.976G>A	12.37:g.8077098C>T	ENSP00000075120:p.Val326Met						p.V326M	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	8	1238	-			326			Cytoplasmic (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.976G>A	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756396	0.49362	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.78595	-1.19	4.0	4.0	0.46444	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.199198	0.43110	D	0.000609	D	0.82884	0.5134	L	0.55213	1.73	0.58432	D	0.999996	D	0.63046	0.992	D	0.67900	0.954	T	0.80086	-0.1529	10	0.25106	T	0.35	.	13.9989	0.64421	0.0:1.0:0.0:0.0	.	326	P11169	GTR3_HUMAN	M	326;252	ENSP00000075120:V326M	ENSP00000075120:V326M	V	-	1	0	SLC2A3	7968365	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.802000	0.75175	2.217000	0.71921	0.563000	0.77884	GTG		PASS	0.433	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		27	114	27	114	---	---	---	---
KLRC1	3821	broad.mit.edu	37	12	10601872	10601872	+	Silent	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr12:10601872G>A	ENST00000359151.3	-	5	634	c.453C>T	c.(451-453)aaC>aaT	p.N151N	KLRC1_ENST00000536188.1_Silent_p.N151N|KLRC1_ENST00000544822.1_Silent_p.N151N|KLRC1_ENST00000347831.5_Silent_p.N133N|KLRC1_ENST00000408006.3_Silent_p.N133N	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	151	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.N151N(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						GCAGACTGGAGTTCTTCGAAG	0.353																																						uc001qyl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(451-453)AAC>AAT		killer cell lectin-like receptor subfamily C,							167.0	175.0	172.0					12																	10601872		2203	4297	6500	SO:0001819	synonymous_variant	3821				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10601872G>A	U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"""Killer cell lectin-like receptors"", ""CD molecules"""	6374	protein-coding gene	gene with protein product	"""NKG2-1/B activating NK receptor"""	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.453C>T	12.37:g.10601872G>A						KLRC1_uc009zhm.1_Silent_p.N151N|KLRC1_uc001qym.2_Silent_p.N133N|KLRC1_uc001qyn.2_Silent_p.N151N|KLRC1_uc001qyo.2_Silent_p.N133N	p.N151N	NM_002259	NP_002250	P26715	NKG2A_HUMAN			5	617	-			151			C-type lectin.|Extracellular (Potential).			Silent	SNP	ENST00000359151.3	37	c.453C>T	CCDS8625.1	.	.	.	.	.	.	.	.	.	.	G	2.238	-0.374601	0.05034	.	.	ENSG00000134545	ENST00000543893	.	.	.	4.46	-3.98	0.04082	.	.	.	.	.	T	0.16557	0.0398	.	.	.	0.20563	N	0.999885	.	.	.	.	.	.	T	0.26573	-1.0099	4	.	.	.	.	0.6602	0.00841	0.4076:0.1263:0.1949:0.2712	.	.	.	.	I	31	.	.	T	-	2	0	KLRC1	10493139	0.031000	0.19500	0.009000	0.14445	0.004000	0.04260	-0.368000	0.07543	-0.516000	0.06470	-0.251000	0.11542	ACT		PASS	0.353	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400115.1	NM_002259		154	246	154	246	---	---	---	---
ST8SIA1	6489	broad.mit.edu	37	12	22487151	22487151	+	Silent	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr12:22487151G>T	ENST00000396037.4	-	1	497	c.16C>A	c.(16-18)Cgg>Agg	p.R6R	ST8SIA1_ENST00000404299.3_Silent_p.R6R|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000539510.1_5'Flank|ST8SIA1_ENST00000381424.3_Silent_p.R6R	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	6					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.R6R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CGCCGGGCCCGCCCGCAGGGG	0.731																																						uc001rfo.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(16-18)CGG>AGG		alpha-2,8-sialyltransferase 1							25.0	28.0	27.0					12																	22487151		2202	4298	6500	SO:0001819	synonymous_variant	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22487151G>T	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.16C>A	12.37:g.22487151G>T						ST8SIA1_uc009zix.2_5'UTR|uc001rfp.1_Intron	p.R6R	NM_003034	NP_003025	Q92185	SIA8A_HUMAN			1	498	-			6			Cytoplasmic (Potential).		A8K4H6|Q17RL0|Q6PZN5|Q93064	Silent	SNP	ENST00000396037.4	37	c.16C>A	CCDS8697.1																																																																																				PASS	0.731	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		26	45	26	45	---	---	---	---
CAPRIN2	65981	broad.mit.edu	37	12	30888129	30888129	+	Silent	SNP	C	C	G	rs145888176		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr12:30888129C>G	ENST00000395805.2	-	4	1129	c.582G>C	c.(580-582)gcG>gcC	p.A194A	CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000251071.5_Silent_p.A194A|CAPRIN2_ENST00000538387.1_5'Flank|CAPRIN2_ENST00000298892.5_Silent_p.A194A|CAPRIN2_ENST00000417045.1_Silent_p.A194A	NM_001206856.1	NP_001193785.1			caprin family member 2									p.A194A(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTTCTTTTGCGCTTTTAGTA	0.378																																						uc001rji.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(580-582)GCG>GCC		C1q domain containing 1 isoform 1							127.0	123.0	125.0					12																	30888129		2203	4300	6503	SO:0001819	synonymous_variant	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30888129C>G	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.582G>C	12.37:g.30888129C>G						CAPRIN2_uc001rjf.1_5'UTR|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Silent_p.A194A|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjk.3_Silent_p.A194A|CAPRIN2_uc001rjl.3_Silent_p.A194A	p.A194A	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN			4	1333	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		194			Potential.			Silent	SNP	ENST00000395805.2	37	c.582G>C	CCDS55816.1																																																																																				PASS	0.378	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		78	171	78	171	---	---	---	---
PPHLN1	51535	broad.mit.edu	37	12	42792791	42792791	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr12:42792791G>A	ENST00000395568.2	+	9	988	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	PPHLN1_ENST00000432191.2_Missense_Mutation_p.E247K|PPHLN1_ENST00000552761.1_Missense_Mutation_p.E254K|PPHLN1_ENST00000256678.8_Missense_Mutation_p.E182K|PPHLN1_ENST00000395580.3_Missense_Mutation_p.E309K|PPHLN1_ENST00000549190.1_Missense_Mutation_p.E320K|RNU6-249P_ENST00000363016.1_RNA|PPHLN1_ENST00000317560.9_Missense_Mutation_p.E235K|PPHLN1_ENST00000449194.2_Missense_Mutation_p.E283K|PPHLN1_ENST00000337898.6_Missense_Mutation_p.E247K|PPHLN1_ENST00000358314.7_Missense_Mutation_p.E302K	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	302					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E302K(2)|p.E309K(1)		breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		CAAAGAGATTGAACAGGTGAG	0.343																																						uc001rng.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|breast(1)	2						c.(904-906)GAA>AAA		periphilin 1 isoform 1							131.0	133.0	132.0					12																	42792791		2203	4300	6503	SO:0001583	missense	51535				keratinization	cytoplasm|nucleus		g.chr12:42792791G>A	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.904G>A	12.37:g.42792791G>A	ENSP00000378935:p.Glu302Lys					PPHLN1_uc001rmy.2_Missense_Mutation_p.E320K|PPHLN1_uc001rna.2_Missense_Mutation_p.E254K|PPHLN1_uc001rne.2_Missense_Mutation_p.E290K|PPHLN1_uc001rnb.2_Missense_Mutation_p.E309K|PPHLN1_uc001rnd.2_Missense_Mutation_p.E254K|PPHLN1_uc001rnc.2_Missense_Mutation_p.E302K|PPHLN1_uc001rnf.2_Missense_Mutation_p.E283K|PPHLN1_uc010skq.1_Missense_Mutation_p.E228K|PPHLN1_uc010skr.1_Missense_Mutation_p.E247K|PPHLN1_uc010sks.1_Missense_Mutation_p.E228K|PPHLN1_uc010skt.1_Missense_Mutation_p.E182K|PPHLN1_uc001rni.1_Missense_Mutation_p.E247K|PPHLN1_uc001rnh.1_RNA|PPHLN1_uc010sku.1_Missense_Mutation_p.E235K|PPHLN1_uc001rnj.2_Missense_Mutation_p.E118K	p.E302K	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	9	1009	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	302					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	c.904G>A	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527721	0.85706	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000337898;ENST00000358314;ENST00000395568;ENST00000256678;ENST00000449194;ENST00000552761;ENST00000317560;ENST00000432191	.	.	.	6.17	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	M	0.79475	2.455	0.50313	D	0.999862	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.69078	0.976;0.997;0.997;0.995;0.99;0.984;0.984;0.995;0.971;0.976;0.976;0.976;0.988;0.976	P;P;D;D;D;P;P;D;P;D;D;D;D;P	0.72075	0.873;0.904;0.942;0.942;0.923;0.765;0.844;0.942;0.872;0.943;0.956;0.956;0.976;0.903	T	0.79342	-0.1843	9	0.49607	T	0.09	-22.0663	12.7696	0.57412	0.076:0.0:0.924:0.0	.	235;182;228;247;235;118;247;302;283;302;254;309;254;320	F8WF16;F8W6A0;B7Z695;B7Z8L1;B7Z615;Q8NEY8-7;Q8NEY8-3;Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-6;Q8NEY8-2;Q8NEY8-5;F8W0Q9	.;.;.;.;.;.;.;PPHLN_HUMAN;.;.;.;.;.;.	K	320;309;247;302;302;182;283;254;235;247	.	ENSP00000256678:E182K	E	+	1	0	PPHLN1	41079058	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	5.890000	0.69774	1.635000	0.50512	0.655000	0.94253	GAA		PASS	0.343	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		61	98	61	98	---	---	---	---
ZDHHC17	23390	broad.mit.edu	37	12	77216233	77216233	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr12:77216233G>T	ENST00000426126.2	+	8	1468	c.819G>T	c.(817-819)atG>atT	p.M273I	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.M273I	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	273					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.M273I(1)		breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ATGTGTGGATGATCAACCACT	0.368																																						uc001syk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(817-819)ATG>ATT		huntingtin interacting protein 14							74.0	69.0	71.0					12																	77216233		1861	4108	5969	SO:0001583	missense	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77216233G>T	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.819G>T	12.37:g.77216233G>T	ENSP00000403397:p.Met273Ile					ZDHHC17_uc001syi.1_RNA|ZDHHC17_uc001syj.2_RNA	p.M273I	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN			8	982	+			273			Cytoplasmic (Potential).		B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	c.819G>T	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278637	0.23307	.	.	ENSG00000186908	ENST00000426126;ENST00000334822;ENST00000550876	T;T;T	0.60920	0.89;0.89;0.15	6.06	6.06	0.98353	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	N	0.03194	-0.395	0.80722	D	1	B	0.18013	0.025	B	0.19148	0.024	T	0.40270	-0.9572	10	0.02654	T	1	-16.9456	20.6397	0.99537	0.0:0.0:1.0:0.0	.	273	Q8IUH5	ZDH17_HUMAN	I	273;273;110	ENSP00000403397:M273I;ENSP00000334868:M273I;ENSP00000449734:M110I	ENSP00000334868:M273I	M	+	3	0	ZDHHC17	75740364	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.062000	0.89475	2.880000	0.98712	0.650000	0.86243	ATG		PASS	0.368	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		17	43	17	43	---	---	---	---
MYF6	4618	broad.mit.edu	37	12	81101662	81101662	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr12:81101662A>T	ENST00000228641.3	+	1	386	c.164A>T	c.(163-165)gAc>gTc	p.D55V		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	55					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D55V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GCGGGGAGCGACAGCAGCGGA	0.617																																						uc001szf.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(163-165)GAC>GTC		myogenic factor 6							51.0	57.0	55.0					12																	81101662		2203	4300	6503	SO:0001583	missense	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101662A>T		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.164A>T	12.37:g.81101662A>T	ENSP00000228641:p.Asp55Val						p.D55V	NM_002469	NP_002460	P23409	MYF6_HUMAN			1	217	+			55					B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	c.164A>T	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123417	0.56613	.	.	ENSG00000111046	ENST00000228641	T	0.77489	-1.1	5.62	4.45	0.53987	Myogenic basic muscle-specific protein (2);	0.242762	0.48286	D	0.000184	T	0.77246	0.4102	L	0.44542	1.39	0.80722	D	1	D	0.54772	0.968	P	0.55303	0.773	T	0.71781	-0.4489	10	0.11794	T	0.64	.	12.7933	0.57547	0.863:0.1369:0.0:0.0	.	55	P23409	MYF6_HUMAN	V	55	ENSP00000228641:D55V	ENSP00000228641:D55V	D	+	2	0	MYF6	79625793	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.972000	0.70448	0.949000	0.37715	0.533000	0.62120	GAC		PASS	0.617	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		41	57	41	57	---	---	---	---
TMEM119	338773	broad.mit.edu	37	12	108985855	108985855	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr12:108985855C>A	ENST00000392806.3	-	2	473	c.305G>T	c.(304-306)gGc>gTc	p.G102V		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	102					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.G102V(1)		large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GGCCAGGGAGCCCACCACAGC	0.602																																						uc001tng.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(304-306)GGC>GTC		transmembrane protein 119 precursor							105.0	105.0	105.0					12																	108985855		2203	4300	6503	SO:0001583	missense	338773					integral to membrane		g.chr12:108985855C>A	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.305G>T	12.37:g.108985855C>A	ENSP00000376553:p.Gly102Val					TMEM119_uc001tnf.2_RNA	p.G102V	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN			2	468	-			102			Helical; (Potential).		Q6UXE5|Q8N2F5	Missense_Mutation	SNP	ENST00000392806.3	37	c.305G>T	CCDS9119.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547796	0.65311	.	.	ENSG00000183160	ENST00000392806;ENST00000433191;ENST00000549031	T;T	0.55413	0.52;0.62	4.59	4.59	0.56863	.	0.247748	0.40469	N	0.001083	T	0.71281	0.3321	M	0.67953	2.075	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	T	0.75451	-0.3313	10	0.72032	D	0.01	-22.7074	17.8056	0.88600	0.0:1.0:0.0:0.0	.	102	Q4V9L6	TM119_HUMAN	V	102;36;102	ENSP00000376553:G102V;ENSP00000448583:G102V	ENSP00000376553:G102V	G	-	2	0	TMEM119	107509984	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.240000	0.51368	2.286000	0.76751	0.400000	0.26472	GGC		PASS	0.602	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724		36	54	36	54	---	---	---	---
FBXW8	26259	broad.mit.edu	37	12	117402577	117402577	+	Silent	SNP	C	C	T	rs369575497		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr12:117402577C>T	ENST00000309909.5	+	5	835	c.753C>T	c.(751-753)gaC>gaT	p.D251D	FBXW8_ENST00000455858.2_Silent_p.D185D			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	251					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)		p.D251D(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		AATCAGAGGACGAGGAGGATG	0.517																																						uc001twg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(751-753)GAC>GAT		F-box and WD repeat domain containing 8 isoform		C	,	1,4405	2.1+/-5.4	0,1,2202	183.0	161.0	169.0		555,753	0.3	1.0	12		169	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FBXW8	NM_012174.1,NM_153348.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	185/533,251/599	117402577	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26259						protein binding	g.chr12:117402577C>T	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.753C>T	12.37:g.117402577C>T						FBXW8_uc001twf.1_Silent_p.D185D|FBXW8_uc009zwp.1_RNA	p.D251D	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0353)	5	835	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		251					Q9UK95	Silent	SNP	ENST00000309909.5	37	c.753C>T	CCDS9182.1																																																																																				PASS	0.517	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		93	220	93	220	---	---	---	---
CDK2AP1	8099	broad.mit.edu	37	12	123751808	123751808	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr12:123751808G>A	ENST00000261692.2	-	2	598	c.77C>T	c.(76-78)tCc>tTc	p.S26F	CDK2AP1_ENST00000542174.1_5'UTR|CDK2AP1_ENST00000538446.1_5'UTR|CDK2AP1_ENST00000544658.1_5'UTR|CDK2AP1_ENST00000535979.1_5'UTR	NM_001270433.1|NM_001270434.1|NM_004642.3	NP_001257362.1|NP_001257363.1|NP_004633.1	O14519	CDKA1_HUMAN	cyclin-dependent kinase 2 associated protein 1	26	intrinsically disordered.				cell cycle (GO:0007049)|DNA-dependent DNA replication (GO:0006261)|positive regulation of protein phosphorylation (GO:0001934)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA polymerase binding (GO:0070182)	p.S26F(1)		lung(2)|stomach(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000554)|Epithelial(86;0.00178)		CATGCTGGTGGAAGGCGAGTG	0.612																																						uc001ueq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(76-78)TCC>TTC		CDK2-associated protein  1							155.0	122.0	133.0					12																	123751808		2203	4300	6503	SO:0001583	missense	8099				DNA-dependent DNA replication|protein phosphorylation|S phase of mitotic cell cycle	cytoplasm|nucleus	DNA binding|protein binding	g.chr12:123751808G>A	AB006077	CCDS9245.1, CCDS58289.1	12q24	2008-11-04	2008-11-04		ENSG00000111328	ENSG00000111328			14002	protein-coding gene	gene with protein product		602198	"""CDK2-associated protein 1"""			9331572, 9506968	Standard	NM_004642		Approved	DORC1, doc-1, DOC1, ST19, p12DOC-1	uc001ueq.4	O14519	OTTHUMG00000168854	ENST00000261692.2:c.77C>T	12.37:g.123751808G>A	ENSP00000261692:p.Ser26Phe					CDK2AP1_uc001uep.2_RNA	p.S26F	NM_004642	NP_004633	O14519	CDKA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000554)|Epithelial(86;0.00178)	2	599	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		26					F5GYA4	Missense_Mutation	SNP	ENST00000261692.2	37	c.77C>T	CCDS9245.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816822	0.90790	.	.	ENSG00000111328	ENST00000261692	.	.	.	5.63	5.63	0.86233	.	0.065345	0.64402	D	0.000006	T	0.69324	0.3098	M	0.67953	2.075	0.80722	D	1	P	0.46327	0.876	P	0.46253	0.509	T	0.73241	-0.4045	9	0.72032	D	0.01	-6.8564	19.6703	0.95910	0.0:0.0:1.0:0.0	.	26	O14519	CDKA1_HUMAN	F	26	.	ENSP00000261692:S26F	S	-	2	0	CDK2AP1	122317761	1.000000	0.71417	0.970000	0.41538	0.888000	0.51559	9.034000	0.93747	2.659000	0.90383	0.561000	0.74099	TCC		PASS	0.612	CDK2AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401387.1	NM_004642		38	66	38	66	---	---	---	---
CLYBL	171425	broad.mit.edu	37	13	100518606	100518606	+	Silent	SNP	A	A	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr13:100518606A>T	ENST00000376360.1	+	6	774	c.747A>T	c.(745-747)cgA>cgT	p.R249R	CLYBL_ENST00000339105.4_Silent_p.R249R|CLYBL_ENST00000376354.1_Silent_p.R215R|CLYBL_ENST00000376355.3_Silent_p.R215R|CLYBL_ENST00000444838.2_Silent_p.R215R			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	249						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)	p.R249R(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGACTTTCGAGATGGAGCTG	0.468																																						uc001vok.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(745-747)CGA>CGT		citrate lyase beta like precursor							92.0	90.0	91.0					13																	100518606		2203	4300	6503	SO:0001819	synonymous_variant	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100518606A>T	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.747A>T	13.37:g.100518606A>T						CLYBL_uc010tix.1_3'UTR|CLYBL_uc010tiy.1_Silent_p.R215R	p.R249R	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN			6	761	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		249					Q5W0F7|Q8TDH8	Silent	SNP	ENST00000376360.1	37	c.747A>T	CCDS32002.1																																																																																				PASS	0.468	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			43	30	43	30	---	---	---	---
OR4Q3	441669	broad.mit.edu	37	14	20216294	20216294	+	Missense_Mutation	SNP	G	G	T	rs138111427		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr14:20216294G>T	ENST00000331723.1	+	1	708	c.708G>T	c.(706-708)aaG>aaT	p.K236N		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K236N(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCAGAACAAGGTCTTCTCTA	0.483																																						uc010tkt.1																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(706-708)AAG>AAT		olfactory receptor, family 4, subfamily Q,							166.0	150.0	155.0					14																	20216294		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216294G>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.708G>T	14.37:g.20216294G>T	ENSP00000330049:p.Lys236Asn						p.K236N	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	708	+	all_cancers(95;0.00108)		236			Cytoplasmic (Potential).		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.708G>T	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	9.380	1.072827	0.20147	.	.	ENSG00000182652	ENST00000331723	T	0.00374	7.72	4.1	-0.0437	0.13858	GPCR, rhodopsin-like superfamily (1);	0.164884	0.27668	U	0.018344	T	0.01320	0.0043	H	0.97240	3.965	0.22552	N	0.99899	D	0.69078	0.997	D	0.73708	0.981	T	0.28073	-1.0055	10	0.87932	D	0	.	7.6589	0.28392	0.4975:0.0:0.5025:0.0	.	236	Q8NH05	OR4Q3_HUMAN	N	236	ENSP00000330049:K236N	ENSP00000330049:K236N	K	+	3	2	OR4Q3	19286134	0.946000	0.32159	0.961000	0.40146	0.007000	0.05969	0.111000	0.15458	0.047000	0.15862	-0.355000	0.07637	AAG		PASS	0.483	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			56	404	56	404	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23895275	23895275	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr14:23895275G>T	ENST00000355349.3	-	19	2222	c.2060C>A	c.(2059-2061)cCc>cAc	p.P687H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	687	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.P687H(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGACCAGGGGGTTGTCCAT	0.572																																						uc001wjx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2059-2061)CCC>CAC		myosin, heavy chain 7, cardiac muscle, beta							40.0	37.0	38.0					14																	23895275		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23895275G>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2060C>A	14.37:g.23895275G>T	ENSP00000347507:p.Pro687His						p.P687H	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	19	2166	-	all_cancers(95;2.54e-05)		687			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2060C>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057323	0.36277	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.87179	-2.22	4.75	4.75	0.60458	Myosin head, motor domain (2);	.	.	.	.	T	0.80270	0.4592	N	0.03050	-0.425	0.46376	D	0.999013	P	0.36660	0.564	P	0.58577	0.841	T	0.75393	-0.3333	9	0.02654	T	1	.	10.3525	0.43945	0.0:0.1444:0.7062:0.1494	.	687	P12883	MYH7_HUMAN	H	687	ENSP00000347507:P687H	ENSP00000347507:P687H	P	-	2	0	MYH7	22965115	0.319000	0.24607	1.000000	0.80357	0.996000	0.88848	1.205000	0.32308	2.471000	0.83476	0.655000	0.94253	CCC		PASS	0.572	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		22	45	22	45	---	---	---	---
CTSG	1511	broad.mit.edu	37	14	25043635	25043635	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr14:25043635C>T	ENST00000216336.2	-	4	446	c.410G>A	c.(409-411)aGa>aAa	p.R137K		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	137	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.R137K(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CGTCCCGGGTCTCAGTCCCTC	0.607																																						uc001wpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(409-411)AGA>AAA		cathepsin G preproprotein							108.0	104.0	105.0					14																	25043635		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043635C>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.410G>A	14.37:g.25043635C>T	ENSP00000216336:p.Arg137Lys						p.R137K	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	4	447	-			137			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.410G>A	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	C	2.892	-0.229354	0.06022	.	.	ENSG00000100448	ENST00000216336	D	0.87650	-2.28	5.14	-2.65	0.06095	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.189730	0.02420	N	0.082440	T	0.63390	0.2507	N	0.01446	-0.86	0.09310	N	1	B	0.02656	0.0	B	0.18263	0.021	T	0.66594	-0.5884	10	0.02654	T	1	.	5.0243	0.14376	0.0:0.2627:0.2883:0.449	.	137	P08311	CATG_HUMAN	K	137	ENSP00000216336:R137K	ENSP00000216336:R137K	R	-	2	0	CTSG	24113475	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.777000	0.01780	-0.391000	0.07763	0.655000	0.94253	AGA		PASS	0.607	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		69	106	69	106	---	---	---	---
ZC3H14	79882	broad.mit.edu	37	14	89037457	89037457	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr14:89037457C>G	ENST00000251038.5	+	4	449	c.224C>G	c.(223-225)tCt>tGt	p.S75C	ZC3H14_ENST00000393514.5_Missense_Mutation_p.S75C|ZC3H14_ENST00000302216.8_Missense_Mutation_p.S75C|ZC3H14_ENST00000359301.3_Missense_Mutation_p.S41C|ZC3H14_ENST00000555755.1_Missense_Mutation_p.S75C|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000336693.4_Missense_Mutation_p.S41C|ZC3H14_ENST00000556945.1_Missense_Mutation_p.S75C	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	75						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S75C(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						AAACTTCGCTCTGTTACAACT	0.308																																						uc001xww.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(223-225)TCT>TGT		zinc finger CCCH-type containing 14 isoform 1							88.0	89.0	89.0					14																	89037457		2202	4295	6497	SO:0001583	missense	79882					cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89037457C>G	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.224C>G	14.37:g.89037457C>G	ENSP00000251038:p.Ser75Cys					ZC3H14_uc010twd.1_Missense_Mutation_p.S75C|ZC3H14_uc010twe.1_Missense_Mutation_p.S75C|ZC3H14_uc001xwx.2_Missense_Mutation_p.S75C|ZC3H14_uc010twf.1_5'UTR|ZC3H14_uc001xwy.2_Missense_Mutation_p.S41C|ZC3H14_uc010twg.1_5'Flank	p.S75C	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN			4	449	+			75					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.224C>G	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954897	0.73902	.	.	ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000554602;ENST00000380684;ENST00000556945;ENST00000556158;ENST00000555799;ENST00000555755;ENST00000393514;ENST00000336693;ENST00000557693;ENST00000555120	T;T;T;T;T;T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	5.91	5.91	0.95273	.	0.110120	0.64402	D	0.000005	D	0.84202	0.5420	L	0.53249	1.67	0.44439	D	0.997367	D;D;D;D	0.89917	1.0;1.0;0.996;1.0	D;D;D;D	0.78314	0.991;0.974;0.921;0.974	D	0.84567	0.0653	10	0.72032	D	0.01	-16.5885	18.479	0.90804	0.0:1.0:0.0:0.0	.	75;75;75;75	G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.;.;.;ZC3HE_HUMAN	C	75;75;75;41;75;41;75;75;62;41;75;75;41;41;41	ENSP00000251038:S75C;ENSP00000352250:S41C;ENSP00000307025:S75C;ENSP00000451638:S41C;ENSP00000450474:S75C;ENSP00000451389:S62C;ENSP00000451489:S41C;ENSP00000452475:S75C;ENSP00000377150:S75C;ENSP00000338002:S41C;ENSP00000452210:S41C;ENSP00000450451:S41C	ENSP00000251038:S75C	S	+	2	0	ZC3H14	88107210	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.586000	0.60984	2.793000	0.96121	0.655000	0.94253	TCT		PASS	0.308	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		51	48	51	48	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94088544	94088544	+	Silent	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr14:94088544C>T	ENST00000393151.2	+	30	4965	c.4965C>T	c.(4963-4965)ggC>ggT	p.G1655G	UNC79_ENST00000553484.1_Silent_p.G1677G|UNC79_ENST00000256339.4_Silent_p.G1478G|UNC79_ENST00000555664.1_Silent_p.G1655G			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1655					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1478G(1)|p.G1677G(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGAACCAAGGCGATGACGGCC	0.552																																						uc001ybv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(4498-4500)GGC>GGT		hypothetical protein LOC57578							94.0	100.0	98.0					14																	94088544		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94088544C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4965C>T	14.37:g.94088544C>T						KIAA1409_uc001ybs.1_Silent_p.G1478G	p.G1500G	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	28	4583	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1655					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.4500C>T																																																																																					PASS	0.552	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		21	62	21	62	---	---	---	---
SERPINA1	5265	broad.mit.edu	37	14	94845910	94845910	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr14:94845910C>A	ENST00000448921.1	-	6	1528	c.956G>T	c.(955-957)gGa>gTa	p.G319V	SERPINA1_ENST00000440909.1_Missense_Mutation_p.G319V|SERPINA1_ENST00000404814.4_Missense_Mutation_p.G319V|SERPINA1_ENST00000393087.4_Missense_Mutation_p.G319V|SERPINA1_ENST00000402629.1_Missense_Mutation_p.G319V|SERPINA1_ENST00000393088.4_Missense_Mutation_p.G319V|SERPINA1_ENST00000437397.1_Missense_Mutation_p.G319V|SERPINA1_ENST00000355814.4_Missense_Mutation_p.G319V|SERPINA1_ENST00000449399.3_Missense_Mutation_p.G319V	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	319					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G319V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ATCATAGGTTCCAGTAATGGA	0.522																																						uc001ycx.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(955-957)GGA>GTA		serine proteinase inhibitor, clade A, member 1	Alpha-1-proteinase inhibitor(DB00058)						153.0	137.0	142.0					14																	94845910		2203	4300	6503	SO:0001583	missense	5265	Alpha-1-Antitrypsin_Deficiency			acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94845910C>A	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.956G>T	14.37:g.94845910C>A	ENSP00000416066:p.Gly319Val					SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Missense_Mutation_p.G319V|SERPINA1_uc010aux.2_Missense_Mutation_p.G319V|SERPINA1_uc001ycy.3_Missense_Mutation_p.G319V|SERPINA1_uc010auy.2_Missense_Mutation_p.G319V|SERPINA1_uc001ycz.3_Missense_Mutation_p.G319V|SERPINA1_uc010auz.2_Missense_Mutation_p.G319V|SERPINA1_uc010ava.2_Missense_Mutation_p.G319V|SERPINA1_uc001ydb.3_Missense_Mutation_p.G319V|SERPINA1_uc010avb.2_Missense_Mutation_p.G319V|SERPINA1_uc001ydc.3_Missense_Mutation_p.G319V|SERPINA1_uc001yda.1_Missense_Mutation_p.G319V	p.G319V	NM_000295	NP_000286	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	4	1217	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	319					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	c.956G>T	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778249	0.49786	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629	D;D;D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.38	3.54	0.40534	Serpin domain (3);	0.186761	0.37178	N	0.002201	D	0.90428	0.7003	M	0.73962	2.25	0.54753	D	0.999985	P;D	0.89917	0.82;1.0	P;D	0.91635	0.45;0.999	D	0.89579	0.3819	10	0.87932	D	0	.	8.782	0.34798	0.0:0.7676:0.1508:0.0816	.	319;319	P01009-2;P01009	.;A1AT_HUMAN	V	319	ENSP00000390299:G319V;ENSP00000416066:G319V;ENSP00000408474:G319V;ENSP00000348068:G319V;ENSP00000376802:G319V;ENSP00000376803:G319V;ENSP00000385960:G319V;ENSP00000416354:G319V;ENSP00000386094:G319V	ENSP00000348068:G319V	G	-	2	0	SERPINA1	93915663	0.011000	0.17503	1.000000	0.80357	0.326000	0.28443	0.695000	0.25527	0.753000	0.32945	0.655000	0.94253	GGA		PASS	0.522	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		101	69	101	69	---	---	---	---
GABRG3	2567	broad.mit.edu	37	15	27725806	27725806	+	Silent	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr15:27725806C>T	ENST00000333743.6	+	6	839	c.585C>T	c.(583-585)ccC>ccT	p.P195P	RP11-100M12.3_ENST00000556642.1_RNA|GABRG3_ENST00000555083.1_Silent_p.P195P	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	195					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.P195P(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)	ATGGCTATCCCAAAGAAGAAA	0.353																																					NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(583-585)CCC>CCT		gamma-aminobutyric acid (GABA) A receptor, gamma							50.0	50.0	50.0					15																	27725806		1853	4096	5949	SO:0001819	synonymous_variant	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27725806C>T		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.585C>T	15.37:g.27725806C>T						GABRG3_uc001zbf.2_Silent_p.P195P	p.P195P	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	6	751	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	195			Extracellular (Probable).		G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	c.585C>T	CCDS45195.1																																																																																				PASS	0.353	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			3	33	3	33	---	---	---	---
ACTC1	70	broad.mit.edu	37	15	35085622	35085622	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr15:35085622T>C	ENST00000290378.4	-	3	933	c.278A>G	c.(277-279)tAc>tGc	p.Y93C	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'Flank	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	93					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)	p.Y93C(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GAGCTCATTGTAGAAGGTGTG	0.572																																						uc001ziu.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(277-279)TAC>TGC		cardiac muscle alpha actin 1 proprotein							92.0	84.0	87.0					15																	35085622		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35085622T>C	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.278A>G	15.37:g.35085622T>C	ENSP00000290378:p.Tyr93Cys					uc001zit.1_Intron	p.Y93C	NM_005159	NP_005150	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	3	521	-		all_lung(180;2.3e-08)	93					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.278A>G	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.776978	0.49786	.	.	ENSG00000159251	ENST00000290378	D	0.94576	-3.46	5.63	5.63	0.86233	.	0.000000	0.49916	U	0.000139	D	0.98311	0.9440	H	0.96861	3.895	0.80722	D	1	P	0.49961	0.93	D	0.76071	0.987	D	0.99597	1.0977	10	0.87932	D	0	.	16.1339	0.81465	0.0:0.0:0.0:1.0	.	93	P68032	ACTC_HUMAN	C	93	ENSP00000290378:Y93C	ENSP00000290378:Y93C	Y	-	2	0	ACTC1	32872914	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.271000	0.75665	0.533000	0.62120	TAC		PASS	0.572	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		71	120	71	120	---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42144471	42144471	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr15:42144471C>T	ENST00000320955.6	-	62	10720	c.10493G>A	c.(10492-10494)gGg>gAg	p.G3498E	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3498					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.G3498E(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCCAGCTCTCCCGGGCTTCAG	0.647																																						uc001zos.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(10387-10389)GGG>GAG		spectrin, beta, non-erythrocytic 5							18.0	24.0	22.0					15																	42144471		2116	4252	6368	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42144471C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10493G>A	15.37:g.42144471C>T	ENSP00000317790:p.Gly3498Glu						p.G3463E	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	62	10721	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	3498						Missense_Mutation	SNP	ENST00000320955.6	37	c.10388G>A		.	.	.	.	.	.	.	.	.	.	.	0.020	-1.433985	0.01108	.	.	ENSG00000137877	ENST00000320955	T	0.69806	-0.43	3.01	1.44	0.22558	.	1.229190	0.06261	N	0.693921	T	0.43700	0.1259	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.29027	-1.0025	10	0.09084	T	0.74	.	4.3983	0.11374	0.0:0.6974:0.0:0.3026	.	3498	Q9NRC6	SPTN5_HUMAN	E	3498	ENSP00000317790:G3498E	ENSP00000317790:G3498E	G	-	2	0	SPTBN5	39931763	0.000000	0.05858	0.004000	0.12327	0.013000	0.08279	-0.069000	0.11542	0.585000	0.29608	0.655000	0.94253	GGG		PASS	0.647	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		8	13	8	13	---	---	---	---
SPATA5L1	79029	broad.mit.edu	37	15	45697670	45697670	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr15:45697670G>T	ENST00000305560.6	+	2	1341	c.1242G>T	c.(1240-1242)gaG>gaT	p.E414D	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.E414D	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	414						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.E414D(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TCTGTAGGGAGGCTGCCATGC	0.428																																						uc001zve.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1240-1242)GAG>GAT		spermatogenesis associated 5-like 1							105.0	88.0	94.0					15																	45697670		2198	4298	6496	SO:0001583	missense	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45697670G>T	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.1242G>T	15.37:g.45697670G>T	ENSP00000305494:p.Glu414Asp					SPATA5L1_uc001zvf.2_RNA	p.E414D	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	2	1351	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	414					C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	c.1242G>T	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457023	0.43634	.	.	ENSG00000171763	ENST00000305560	D	0.95205	-3.64	5.47	1.55	0.23275	.	0.000000	0.85682	D	0.000000	D	0.92358	0.7575	M	0.77486	2.375	0.37470	D	0.915579	B	0.28584	0.216	B	0.32342	0.144	D	0.87693	0.2555	10	0.87932	D	0	-27.3202	4.708	0.12858	0.3788:0.0:0.4835:0.1377	.	414	Q9BVQ7	SPA5L_HUMAN	D	414	ENSP00000305494:E414D	ENSP00000305494:E414D	E	+	3	2	SPATA5L1	43484962	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	0.975000	0.29449	0.039000	0.15632	-0.122000	0.15005	GAG		PASS	0.428	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		75	84	75	84	---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48063194	48063194	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr15:48063194A>G	ENST00000316364.5	+	19	2873	c.2434A>G	c.(2434-2436)Agt>Ggt	p.S812G	SEMA6D_ENST00000358066.4_Missense_Mutation_p.S750G|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S793G|SEMA6D_ENST00000389432.2_Missense_Mutation_p.S769G|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S812G|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.S737G|SEMA6D_ENST00000537942.1_Missense_Mutation_p.S750G|SEMA6D_ENST00000354744.4_Missense_Mutation_p.S756G|SEMA6D_ENST00000558014.1_Missense_Mutation_p.S750G	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	812					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S750G(1)|p.S812G(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTTTCCGTCTAGTCCGCCACC	0.502																																						uc010bek.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|breast(1)	4						c.(2434-2436)AGT>GGT		semaphorin 6D isoform 4 precursor							91.0	90.0	90.0					15																	48063194		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063194A>G	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2434A>G	15.37:g.48063194A>G	ENSP00000324857:p.Ser812Gly					SEMA6D_uc001zvw.2_Missense_Mutation_p.S750G|SEMA6D_uc001zvy.2_Missense_Mutation_p.S812G|SEMA6D_uc001zvz.2_Missense_Mutation_p.S756G|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.S750G|SEMA6D_uc001zwc.2_Missense_Mutation_p.S737G	p.S812G	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	2794	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	812			Cytoplasmic (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.2434A>G	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.356313	0.24598	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.20200	2.1;2.16;2.16;2.12;2.09;2.1;2.1;2.11	5.19	5.19	0.71726	.	0.302469	0.40908	D	0.000986	T	0.34077	0.0885	L	0.36672	1.1	0.80722	D	1	B;B;D;D	0.58620	0.4;0.317;0.983;0.982	B;B;P;D	0.68943	0.225;0.228;0.837;0.961	T	0.02567	-1.1140	10	0.23891	T	0.37	.	15.1953	0.73081	1.0:0.0:0.0:0.0	.	737;756;812;750	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	G	750;812;812;793;769;756;750;737	ENSP00000442040:S750G;ENSP00000446152:S812G;ENSP00000324857:S812G;ENSP00000374084:S793G;ENSP00000374083:S769G;ENSP00000346786:S756G;ENSP00000350770:S750G;ENSP00000374079:S737G	ENSP00000324857:S812G	S	+	1	0	SEMA6D	45850486	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	4.520000	0.60524	2.165000	0.68154	0.533000	0.62120	AGT		PASS	0.502	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		66	117	66	117	---	---	---	---
DYX1C1	161582	broad.mit.edu	37	15	55790004	55790004	+	Silent	SNP	A	A	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr15:55790004A>G	ENST00000321149.3	-	3	544	c.177T>C	c.(175-177)gaT>gaC	p.D59D	DYX1C1_ENST00000380679.1_Silent_p.D59D|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Silent_p.D59D|DYX1C1_ENST00000457155.2_Silent_p.D59D|DYX1C1_ENST00000348518.3_Silent_p.D59D	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	59	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Mediates interaction with ESR1 and STUB1.				cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)	p.D59D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TGCTGCTCTCATCGTCTATGG	0.408																																						uc002adc.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(175-177)GAT>GAC		dyslexia susceptibility 1 candidate 1 isoform a							122.0	123.0	123.0					15																	55790004		2193	4292	6485	SO:0001819	synonymous_variant	161582				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	g.chr15:55790004A>G		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.177T>C	15.37:g.55790004A>G						CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Silent_p.D59D|DYX1C1_uc002add.2_Silent_p.D59D	p.D59D	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	3	545	-			59			CS.|Mediates interaction with ESR1 and STUB1.		Q6P5Y9|Q8N1S6	Silent	SNP	ENST00000321149.3	37	c.177T>C	CCDS10154.1																																																																																				PASS	0.408	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		101	160	101	160	---	---	---	---
RBPMS2	348093	broad.mit.edu	37	15	65054705	65054705	+	Intron	SNP	T	T	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr15:65054705T>C	ENST00000300069.4	-	2	355				RBPMS2_ENST00000560606.1_5'Flank|MIR1272_ENST00000408106.1_RNA	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2								nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						CGCACCCAGATCTGATCTGGC	0.493																																						hsa-mir-1272|MI0006408																			0					0															120.0	103.0	108.0					15																	65054705		1567	3581	5148	SO:0001627	intron_variant	100302184							g.chr15:65054705T>C	AY369207	CCDS32271.1	15q22.31	2014-05-15			ENSG00000166831	ENSG00000166831		"""RNA binding motif (RRM) containing"""	19098	protein-coding gene	gene with protein product							Standard	NM_194272		Approved		uc002anq.3	Q6ZRY4	OTTHUMG00000172423	ENST00000300069.4:c.88-10868A>G	15.37:g.65054705T>C						RBPMS2_uc002anq.2_Intron										-								A2RRG0	RNA	SNP	ENST00000300069.4	37	c.10T>C	CCDS32271.1																																																																																				PASS	0.493	RBPMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418466.1			54	94	54	94	---	---	---	---
IGDCC4	57722	broad.mit.edu	37	15	65680905	65680905	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr15:65680905C>A	ENST00000352385.2	-	16	2936	c.2727G>T	c.(2725-2727)gaG>gaT	p.E909D	IGDCC4_ENST00000558048.1_5'Flank	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	909	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E909D(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGCCATGGACCTCAGCACTGA	0.637																																						uc002aou.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2725-2727)GAG>GAT		immunoglobulin superfamily, DCC subclass, member							84.0	78.0	80.0					15																	65680905		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65680905C>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2727G>T	15.37:g.65680905C>A	ENSP00000319623:p.Glu909Asp					IGDCC4_uc002aot.1_Missense_Mutation_p.E497D	p.E909D	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			16	2937	-			909			Extracellular (Potential).|Fibronectin type-III 5.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.2727G>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845035	0.51164	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.57436	0.4	5.16	4.24	0.50183	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	L	0.33137	0.985	0.44380	D	0.997288	D	0.89917	1.0	D	0.91635	0.999	T	0.51012	-0.8759	10	0.21540	T	0.41	-26.2849	8.6652	0.34116	0.0:0.7784:0.0:0.2216	.	909	Q8TDY8	IGDC4_HUMAN	D	909;638	ENSP00000319623:E909D	ENSP00000319623:E909D	E	-	3	2	IGDCC4	63467958	0.991000	0.36638	0.999000	0.59377	0.984000	0.73092	0.354000	0.20146	1.180000	0.42898	0.561000	0.74099	GAG		PASS	0.637	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		67	122	67	122	---	---	---	---
ITGA11	22801	broad.mit.edu	37	15	68603377	68603377	+	Silent	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr15:68603377G>A	ENST00000315757.7	-	26	3215	c.3129C>T	c.(3127-3129)taC>taT	p.Y1043Y	ITGA11_ENST00000423218.2_Silent_p.Y1044Y	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	1043					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.Y1043Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GGGTGGGCCGGTACTCAGTGC	0.587																																						uc002ari.2																			1	Substitution - coding silent(1)		lung(1)	kidney(2)|pancreas(1)	3						c.(3127-3129)TAC>TAT		integrin, alpha 11 precursor	Tirofiban(DB00775)						45.0	46.0	45.0					15																	68603377		2084	4209	6293	SO:0001819	synonymous_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68603377G>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.3129C>T	15.37:g.68603377G>A						ITGA11_uc010bib.2_Silent_p.Y1044Y	p.Y1043Y	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			26	3216	-			1043			Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	c.3129C>T	CCDS45291.1																																																																																				PASS	0.587	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		9	18	9	18	---	---	---	---
PKM	5315	broad.mit.edu	37	15	72499082	72499082	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr15:72499082C>A	ENST00000335181.5	-	8	1230	c.1127G>T	c.(1126-1128)cGc>cTc	p.R376L	PKM_ENST00000389093.3_Missense_Mutation_p.R376L|PKM_ENST00000449901.2_Missense_Mutation_p.R361L|PKM_ENST00000568459.1_Missense_Mutation_p.R376L|PKM_ENST00000565184.1_Missense_Mutation_p.R376L|PKM_ENST00000568883.1_Missense_Mutation_p.R211L|PKM_ENST00000319622.6_Missense_Mutation_p.R376L|PKM_ENST00000565154.1_Missense_Mutation_p.R376L	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	376	Interaction with POU5F1.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.R376L(2)		endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	GTGCTGCATGCGCACAGCCTC	0.592																																						uc002atx.1																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1126-1128)CGC>CTC		pyruvate kinase, muscle isoform M1	Pyruvic acid(DB00119)						55.0	52.0	53.0					15																	72499082		2199	4297	6496	SO:0001583	missense	5315				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity	g.chr15:72499082C>A	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.1127G>T	15.37:g.72499082C>A	ENSP00000334983:p.Arg376Leu					PKM2_uc002ats.1_Missense_Mutation_p.R43L|PKM2_uc002att.1_Missense_Mutation_p.R142L|PKM2_uc002atu.1_Missense_Mutation_p.R142L|PKM2_uc010bit.1_Missense_Mutation_p.R381L|PKM2_uc010uki.1_Missense_Mutation_p.R450L|PKM2_uc002atv.1_Missense_Mutation_p.R411L|PKM2_uc002atw.1_Missense_Mutation_p.R376L|PKM2_uc002aty.1_Missense_Mutation_p.R376L|PKM2_uc010ukj.1_Missense_Mutation_p.R361L|PKM2_uc010ukk.1_Missense_Mutation_p.R302L|PKM2_uc010biu.1_Missense_Mutation_p.R397L|PKM2_uc002atz.1_RNA	p.R376L	NM_182471	NP_872271	P14618	KPYM_HUMAN			8	1368	-			376			Interaction with POU5F1.		A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	37	c.1127G>T	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.284100	0.40394	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000434220;ENST00000327974;ENST00000389093;ENST00000449901	D;D;D;D	0.99409	-5.85;-5.85;-5.85;-5.85	5.23	4.29	0.51040	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.000000	0.85682	D	0.000000	D	0.97739	0.9258	L	0.37897	1.145	0.80722	D	1	B;B;B;B;B;B;B;B;B	0.18741	0.014;0.013;0.002;0.012;0.015;0.001;0.002;0.03;0.002	B;B;B;B;B;B;B;B;B	0.20384	0.02;0.029;0.015;0.008;0.012;0.009;0.006;0.02;0.006	D	0.97231	0.9884	10	0.21014	T	0.42	-14.6334	14.7	0.69150	0.0:0.9263:0.0:0.0737	.	302;361;356;356;376;376;211;303;211	B4DNK4;B4DUU6;B4DRT3;E7EUQ8;P14618;P14618-2;Q504U3;E9PF79;E7EUJ4	.;.;.;.;KPYM_HUMAN;.;.;.;.	L	376;376;303;211;376;361	ENSP00000320171:R376L;ENSP00000334983:R376L;ENSP00000373745:R376L;ENSP00000403365:R361L	ENSP00000320171:R376L	R	-	2	0	PKM2	70286136	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.926000	0.63433	2.596000	0.87737	0.561000	0.74099	CGC		PASS	0.592	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			39	63	39	63	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3828022	3828022	+	Silent	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr16:3828022C>T	ENST00000262367.5	-	10	2912	c.2103G>A	c.(2101-2103)gtG>gtA	p.V701V	CREBBP_ENST00000382070.3_Silent_p.V663V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	701					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V701V(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGGAGGTCTCACAGGTTGTG	0.502			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(2101-2103)GTG>GTA		CREB binding protein isoform a							96.0	110.0	105.0					16																	3828022		2197	4300	6497	SO:0001819	synonymous_variant	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3828022C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2103G>A	16.37:g.3828022C>T						CREBBP_uc002cvw.2_Silent_p.V663V	p.V701V	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	10	2307	-		Ovarian(90;0.0266)	701					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.2103G>A	CCDS10509.1																																																																																				PASS	0.502	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		103	74	103	74	---	---	---	---
CRYM	1428	broad.mit.edu	37	16	21281170	21281170	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr16:21281170C>A	ENST00000219599.3	-	6	695	c.430G>T	c.(430-432)Gct>Tct	p.A144S	CRYM_ENST00000415987.2_Missense_Mutation_p.A102S|CRYM_ENST00000396023.2_Missense_Mutation_p.A144S|CRYM_ENST00000543948.1_Missense_Mutation_p.A144S	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	144					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)	p.A144S(1)		large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		TGGACCCCAGCCCCAAGGATG	0.527																																						uc002dik.2																			1	Substitution - Missense(1)		lung(1)		0						c.(430-432)GCT>TCT		crystallin, mu isoform 1	Levothyroxine(DB00451)						77.0	80.0	79.0					16																	21281170		2199	4300	6499	SO:0001583	missense	1428				negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity	g.chr16:21281170C>A		CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"""thiomorpholine-carboxylate dehydrogenase"""	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.430G>T	16.37:g.21281170C>A	ENSP00000219599:p.Ala144Ser					CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Missense_Mutation_p.A102S|CRYM_uc002dim.2_Missense_Mutation_p.A144S	p.A144S	NM_001888	NP_001879	Q14894	CRYM_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	4	515	-			144			NADP.		D5MNX0|Q5HYB7	Missense_Mutation	SNP	ENST00000219599.3	37	c.430G>T	CCDS10597.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340933	0.24339	.	.	ENSG00000103316	ENST00000543948;ENST00000219599;ENST00000396023;ENST00000415987	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.24	5.15	5.15	0.70609	NAD(P)-binding domain (1);	0.142073	0.52532	D	0.000067	T	0.65780	0.2724	N	0.20986	0.625	0.47584	D	0.99946	B	0.14438	0.01	B	0.28385	0.089	T	0.59144	-0.7509	10	0.20046	T	0.44	-1.8319	12.4477	0.55659	0.1676:0.8324:0.0:0.0	.	144	Q14894	CRYM_HUMAN	S	144;144;144;102	ENSP00000440227:A144S;ENSP00000219599:A144S;ENSP00000379341:A144S;ENSP00000390928:A102S	ENSP00000219599:A144S	A	-	1	0	CRYM	21188671	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	2.644000	0.46613	2.654000	0.90174	0.655000	0.94253	GCT		PASS	0.527	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207398.1			46	40	46	40	---	---	---	---
TEPP	374739	broad.mit.edu	37	16	58011824	58011824	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr16:58011824C>A	ENST00000441824.2	+	2	306	c.269C>A	c.(268-270)gCg>gAg	p.A90E	TEPP_ENST00000569996.1_Intron|TEPP_ENST00000290871.5_Missense_Mutation_p.A90E	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	90						extracellular region (GO:0005576)		p.A90E(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						AACCAGCTGGCGGGCGTGAAG	0.657																																						uc002emw.3																			1	Substitution - Missense(1)		lung(1)	kidney(1)|central_nervous_system(1)|skin(1)	3						c.(268-270)GCG>GAG		testis/prostate/placenta-expressed protein							62.0	53.0	56.0					16																	58011824		2198	4300	6498	SO:0001583	missense	374739					extracellular region		g.chr16:58011824C>A	BC104458	CCDS10790.1, CCDS45496.1	16q13	2009-04-20			ENSG00000159648	ENSG00000159648			33745	protein-coding gene	gene with protein product		610264				14652002	Standard	NM_199456		Approved		uc002emv.4	Q6URK8	OTTHUMG00000133463	ENST00000441824.2:c.269C>A	16.37:g.58011824C>A	ENSP00000401917:p.Ala90Glu					TEPP_uc002emv.3_Missense_Mutation_p.A90E	p.A90E	NM_199456	NP_955535	Q6URK8	TEPP_HUMAN			2	306	+			90					Q6URK7	Missense_Mutation	SNP	ENST00000441824.2	37	c.269C>A	CCDS45496.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678255	0.68042	.	.	ENSG00000159648	ENST00000290871;ENST00000441824	T;T	0.59364	0.27;0.29	4.26	4.26	0.50523	.	0.201621	0.32175	N	0.006478	T	0.73110	0.3545	M	0.83953	2.67	0.29549	N	0.851468	D;D	0.67145	0.983;0.996	P;P	0.60345	0.823;0.873	T	0.73347	-0.4011	10	0.87932	D	0	-2.2743	12.5356	0.56140	0.0:1.0:0.0:0.0	.	90;90	Q6URK8;Q6URK8-2	TEPP_HUMAN;.	E	90	ENSP00000290871:A90E;ENSP00000401917:A90E	ENSP00000290871:A90E	A	+	2	0	TEPP	56569325	0.934000	0.31675	0.835000	0.33067	0.607000	0.37147	1.795000	0.38784	2.063000	0.61619	0.423000	0.28283	GCG		PASS	0.657	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000431966.1	NM_199456		51	19	51	19	---	---	---	---
FANCA	2175	broad.mit.edu	37	16	89809333	89809333	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr16:89809333C>G	ENST00000389301.3	-	37	3670	c.3640G>C	c.(3640-3642)Gag>Cag	p.E1214Q	FANCA_ENST00000568369.1_Missense_Mutation_p.E1214Q	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1214					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E1214Q(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GAGGCAGCCTCAGGGGAGAGG	0.542			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002fou.1			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	D|Mis|N|F|S	"""Fanconi anemia, complementation group A"""			L		AML|leukemia			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(3640-3642)GAG>CAG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group A isoform							68.0	68.0	68.0					16																	89809333		2198	4300	6498	SO:0001583	missense	2175	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89809333C>G	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3640G>C	16.37:g.89809333C>G	ENSP00000373952:p.Glu1214Gln					FANCA_uc010vpn.1_Missense_Mutation_p.E1214Q|FANCA_uc010vpo.1_Missense_Mutation_p.E300Q	p.E1214Q	NM_000135	NP_000126	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	37	3682	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	1214					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.3640G>C	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	C	8.198	0.797537	0.16327	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.84223	-1.82	4.85	2.85	0.33270	.	1.501120	0.03791	N	0.262898	T	0.73481	0.3592	N	0.14661	0.345	0.19775	N	0.999954	B;B;B	0.28128	0.037;0.201;0.09	B;B;B	0.23419	0.019;0.046;0.046	T	0.61792	-0.6990	10	0.21540	T	0.41	-2.1817	7.5923	0.28027	0.0:0.7315:0.1781:0.0904	.	191;1214;1214	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	Q	1214;191	ENSP00000373952:E1214Q	ENSP00000306281:E191Q	E	-	1	0	FANCA	88336834	0.000000	0.05858	0.005000	0.12908	0.214000	0.24535	-0.179000	0.09768	1.172000	0.42781	0.555000	0.69702	GAG		PASS	0.542	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			48	22	48	22	---	---	---	---
KIF1C	10749	broad.mit.edu	37	17	4910576	4910576	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr17:4910576G>C	ENST00000320785.5	+	15	1711	c.1354G>C	c.(1354-1356)Gct>Cct	p.A452P		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	452					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)	p.A452P(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GAAGATTATAGCTGAGCTGAA	0.582																																					Melanoma(96;1023 1447 10250 19259 33730)	uc002gan.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1354-1356)GCT>CCT		kinesin family member 1C							65.0	55.0	58.0					17																	4910576		2203	4300	6503	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4910576G>C	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1354G>C	17.37:g.4910576G>C	ENSP00000320821:p.Ala452Pro						p.A452P	NM_006612	NP_006603	O43896	KIF1C_HUMAN			15	1680	+			452			Potential.		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.1354G>C	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119823	0.94385	.	.	ENSG00000129250	ENST00000320785	T	0.72615	-0.67	5.19	5.19	0.71726	.	.	.	.	.	D	0.84705	0.5531	M	0.81112	2.525	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.86165	0.1596	9	0.72032	D	0.01	.	17.017	0.86422	0.0:0.0:1.0:0.0	.	452	O43896	KIF1C_HUMAN	P	452	ENSP00000320821:A452P	ENSP00000320821:A452P	A	+	1	0	KIF1C	4851300	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.808000	0.96608	0.655000	0.94253	GCT		PASS	0.582	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			13	7	13	7	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578272	7578272	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr17:7578272G>C	ENST00000269305.4	-	6	766	c.577C>G	c.(577-579)Cat>Gat	p.H193D	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.H193D|TP53_ENST00000359597.4_Missense_Mutation_p.H193D|TP53_ENST00000420246.2_Missense_Mutation_p.H193D|TP53_ENST00000455263.2_Missense_Mutation_p.H193D|TP53_ENST00000413465.2_Missense_Mutation_p.H193D	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(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)	CGGATAAGATGCTGAGGAGGG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		85	Substitution - Missense(52)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(67)|p.H193L(29)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191fs*53(2)|p.H193H(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(1)	breast(14)|lung(12)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(7)|ovary(6)|upper_aerodigestive_tract(5)|liver(5)|oesophagus(5)|central_nervous_system(4)|skin(4)|bone(4)|large_intestine(3)|stomach(2)|urinary_tract(2)|pancreas(2)|adrenal_gland(1)|soft_tissue(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(577-579)CAT>GAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							95.0	85.0	88.0					17																	7578272		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578272G>C	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.577C>G	17.37:g.7578272G>C	ENSP00000269305:p.His193Asp	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)				TP53_uc002gig.1_Missense_Mutation_p.H193D|TP53_uc002gih.2_Missense_Mutation_p.H193D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61D|TP53_uc010cng.1_Missense_Mutation_p.H61D|TP53_uc002gii.1_Missense_Mutation_p.H61D|TP53_uc010cnh.1_Missense_Mutation_p.H193D|TP53_uc010cni.1_Missense_Mutation_p.H193D|TP53_uc002gij.2_Missense_Mutation_p.H193D|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100D|TP53_uc002gio.2_Missense_Mutation_p.H61D|TP53_uc010vug.1_Missense_Mutation_p.H154D	p.H193D	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	771	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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	c.577C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254324	0.59212	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	5.41	0.78517	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	0.99889	0.9947	M	0.92738	3.34	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96480	0.9355	10	0.87932	D	0	-29.0766	17.0767	0.86588	0.0:0.0:1.0:0.0	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193D;ENSP00000352610:H193D;ENSP00000269305:H193D;ENSP00000398846:H193D;ENSP00000391127:H193D;ENSP00000391478:H193D;ENSP00000425104:H61D;ENSP00000423862:H100D	ENSP00000269305:H193D	H	-	1	0	TP53	7518997	1.000000	0.71417	0.971000	0.41717	0.032000	0.12392	9.813000	0.99286	2.702000	0.92279	0.655000	0.94253	CAT		PASS	0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		43	23	43	23	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10431192	10431192	+	Splice_Site	SNP	C	C	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr17:10431192C>G	ENST00000245503.5	-	28	4129		c.e28-1		CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Splice_Site	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.?(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTAGGTTTCCCTATAGAAGAA	0.398																																						uc010coi.2																			1	Unknown(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.e28-1		myosin heavy chain IIa							60.0	63.0	62.0					17																	10431192		2203	4300	6503	SO:0001630	splice_region_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10431192C>G		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3745-1G>C	17.37:g.10431192C>G						uc002gml.1_Intron|MYH2_uc002gmp.3_Splice_Site_p.G1249_splice|MYH2_uc010coj.2_Intron	p.G1249_splice	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			28	3873	-								A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Splice_Site	SNP	ENST00000245503.5	37	c.3745_splice	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104656	0.37145	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3692	0.90401	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH2	10371917	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	7.347000	0.79356	2.643000	0.89663	0.462000	0.41574	.		PASS	0.398	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	Intron	94	39	94	39	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18023903	18023903	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr17:18023903G>C	ENST00000205890.5	+	2	2127	c.1789G>C	c.(1789-1791)Gcg>Ccg	p.A597P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	597					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A597P(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAAGGCCCGGGCGGGCGGCCC	0.697																																						uc010vxh.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(1789-1791)GCG>CCG		myosin XV							5.0	6.0	6.0					17																	18023903		1637	3642	5279	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023903G>C	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1789G>C	17.37:g.18023903G>C	ENSP00000205890:p.Ala597Pro						p.A597P	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			2	2127	+	all_neural(463;0.228)		597			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.1789G>C	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	3.064	-0.192613	0.06259	.	.	ENSG00000091536	ENST00000205890	D	0.87729	-2.29	4.63	-3.74	0.04385	.	.	.	.	.	T	0.71065	0.3296	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55667	-0.8105	9	0.30854	T	0.27	.	10.8827	0.46948	0.0:0.1564:0.6494:0.1941	.	597	Q9UKN7	MYO15_HUMAN	P	597	ENSP00000205890:A597P	ENSP00000205890:A597P	A	+	1	0	MYO15A	17964628	0.000000	0.05858	0.001000	0.08648	0.134000	0.20937	-0.018000	0.12568	-0.271000	0.09272	0.448000	0.29417	GCG		PASS	0.697	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		5	1	5	1	---	---	---	---
FBXO47	494188	broad.mit.edu	37	17	37119235	37119235	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr17:37119235T>C	ENST00000378079.2	-	2	243	c.44A>G	c.(43-45)cAg>cGg	p.Q15R		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	15								p.Q15R(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TCTAAGTTTCTGGTTGGGAAT	0.373																																						uc002hrc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(43-45)CAG>CGG		F-box protein 47							161.0	167.0	165.0					17																	37119235		2203	4300	6503	SO:0001583	missense	494188							g.chr17:37119235T>C		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.44A>G	17.37:g.37119235T>C	ENSP00000367319:p.Gln15Arg						p.Q15R	NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN			2	244	-			15					B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	37	c.44A>G	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	T	10.26	1.299951	0.23650	.	.	ENSG00000204952	ENST00000378079	T	0.45276	0.9	4.69	3.59	0.41128	.	0.094472	0.45867	D	0.000328	T	0.27063	0.0663	L	0.32530	0.975	0.26095	N	0.9809	P	0.35433	0.501	B	0.27608	0.081	T	0.09862	-1.0655	10	0.40728	T	0.16	-0.1653	9.3242	0.37982	0.0:0.0:0.1804:0.8196	.	15	Q5MNV8	FBX47_HUMAN	R	15	ENSP00000367319:Q15R	ENSP00000367319:Q15R	Q	-	2	0	FBXO47	34372761	1.000000	0.71417	0.981000	0.43875	0.671000	0.39405	1.537000	0.36083	0.616000	0.30141	0.260000	0.18958	CAG		PASS	0.373	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		137	65	137	65	---	---	---	---
CDC42EP4	23580	broad.mit.edu	37	17	71281876	71281876	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr17:71281876T>C	ENST00000335793.3	-	2	1158	c.764A>G	c.(763-765)tAc>tGc	p.Y255C	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Missense_Mutation_p.Y185C			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	255					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)	p.Y255C(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CGCCACGGCGTACGGGGGAGC	0.687																																						uc002jjn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(763-765)TAC>TGC		Cdc42 effector protein 4							17.0	18.0	18.0					17																	71281876		2203	4295	6498	SO:0001583	missense	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71281876T>C	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.764A>G	17.37:g.71281876T>C	ENSP00000338258:p.Tyr255Cys					CDC42EP4_uc002jjo.2_Missense_Mutation_p.Y255C|CDC42EP4_uc002jjp.1_Missense_Mutation_p.Y185C	p.Y255C	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	911	-			255					B3KUS7|O95828|Q96FT3	Missense_Mutation	SNP	ENST00000335793.3	37	c.764A>G	CCDS11695.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.162157	0.00318	.	.	ENSG00000179604	ENST00000335793;ENST00000439510	T;T	0.30182	1.55;1.54	3.41	-6.82	0.01698	.	19.181500	0.00166	N	0.000002	T	0.13756	0.0333	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14755	-1.0461	10	0.38643	T	0.18	1.8217	2.6273	0.04933	0.2413:0.4274:0.1587:0.1726	.	185;255	B3KUS7;Q9H3Q1	.;BORG4_HUMAN	C	255;185	ENSP00000338258:Y255C;ENSP00000404270:Y185C	ENSP00000338258:Y255C	Y	-	2	0	CDC42EP4	68793471	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.208000	0.09371	-4.737000	0.00034	-0.636000	0.03981	TAC		PASS	0.687	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		10	10	10	10	---	---	---	---
DSC1	1823	broad.mit.edu	37	18	28721973	28721973	+	Missense_Mutation	SNP	A	A	G	rs372473569		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr18:28721973A>G	ENST00000257198.5	-	9	1510	c.1249T>C	c.(1249-1251)Tgt>Cgt	p.C417R	DSC1_ENST00000257197.3_Missense_Mutation_p.C417R|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	417	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C417R(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTGACAACACACAGCACTCCT	0.323																																						uc002kwn.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(1249-1251)TGT>CGT		desmocollin 1 isoform Dsc1a preproprotein		A	ARG/CYS,ARG/CYS	0,4404		0,0,2202	169.0	175.0	173.0		1249,1249	5.5	1.0	18		173	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DSC1	NM_004948.3,NM_024421.2	180,180	0,1,6501	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging	417/841,417/895	28721973	1,13003	2202	4300	6502	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28721973A>G	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1249T>C	18.37:g.28721973A>G	ENSP00000257198:p.Cys417Arg					DSC1_uc002kwm.2_Missense_Mutation_p.C417R	p.C417R	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		9	1511	-			417			Extracellular (Potential).|Cadherin 3.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.1249T>C	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702458	0.48307	0.0	1.16E-4	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.49432	0.78;0.78	5.46	5.46	0.80206	Cadherin (5);Cadherin-like (1);	0.000000	0.56097	D	0.000027	T	0.51958	0.1705	L	0.37850	1.14	0.53688	D	0.999971	D;D	0.58970	0.984;0.984	P;P	0.62184	0.899;0.899	T	0.54146	-0.8337	10	0.54805	T	0.06	.	7.5226	0.27637	0.7143:0.1457:0.0:0.1399	.	417;417	Q08554;Q9HB00	DSC1_HUMAN;.	R	417	ENSP00000257197:C417R;ENSP00000257198:C417R	ENSP00000257197:C417R	C	-	1	0	DSC1	26975971	0.771000	0.28555	1.000000	0.80357	0.997000	0.91878	1.784000	0.38674	2.188000	0.69820	0.528000	0.53228	TGT		PASS	0.323	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		39	117	39	117	---	---	---	---
MAPRE2	10982	broad.mit.edu	37	18	32677486	32677486	+	Silent	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr18:32677486G>A	ENST00000300249.5	+	3	507	c.327G>A	c.(325-327)aaG>aaA	p.K109K	MAPRE2_ENST00000588910.1_Silent_p.K109K|MAPRE2_ENST00000436190.2_Silent_p.K97K|MAPRE2_ENST00000589699.1_Silent_p.K66K|MAPRE2_ENST00000413393.1_Silent_p.K66K|MAPRE2_ENST00000538170.2_Silent_p.K56K	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	109	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)		p.K109K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						TTCAAGCAAAGCTGGAACATG	0.378																																						uc002kyg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(325-327)AAG>AAA		microtubule-associated protein, RP/EB family,							85.0	82.0	83.0					18																	32677486		2203	4300	6503	SO:0001819	synonymous_variant	10982				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding	g.chr18:32677486G>A	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.327G>A	18.37:g.32677486G>A						MAPRE2_uc010xcb.1_Silent_p.K66K|MAPRE2_uc010xcc.1_Silent_p.K97K|MAPRE2_uc002kyf.2_Silent_p.K109K|MAPRE2_uc002kyh.2_Silent_p.K56K|MAPRE2_uc010xcd.1_Silent_p.K66K	p.K109K	NM_014268	NP_055083	Q15555	MARE2_HUMAN			3	507	+			109			CH.		B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Silent	SNP	ENST00000300249.5	37	c.327G>A	CCDS11910.1																																																																																				PASS	0.378	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268		44	58	44	58	---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67741225	67741225	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr18:67741225C>A	ENST00000255674.6	-	34	4856	c.4570G>T	c.(4570-4572)Gat>Tat	p.D1524Y	RTTN_ENST00000437017.1_Missense_Mutation_p.D1524Y|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1524					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.D1524Y(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AATGAGTCATCTAAACCTGCA	0.413																																						uc002lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(4570-4572)GAT>TAT		rotatin							97.0	86.0	90.0					18																	67741225		1862	4102	5964	SO:0001583	missense	25914						binding	g.chr18:67741225C>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4570G>T	18.37:g.67741225C>A	ENSP00000255674:p.Asp1524Tyr					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.D612Y	p.D1524Y	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			34	4638	-		Esophageal squamous(42;0.129)	1524					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.4570G>T	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225679	0.79576	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.69040	0.36;-0.37	5.58	5.58	0.84498	.	0.053925	0.85682	D	0.000000	T	0.80497	0.4634	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.81046	-0.1110	10	0.66056	D	0.02	.	18.0976	0.89496	0.0:1.0:0.0:0.0	.	1524	Q86VV8	RTTN_HUMAN	Y	1524	ENSP00000255674:D1524Y;ENSP00000399520:D1524Y	ENSP00000255674:D1524Y	D	-	1	0	RTTN	65892205	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.805000	0.62561	2.773000	0.95371	0.591000	0.81541	GAT		PASS	0.413	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		35	64	35	64	---	---	---	---
TLE2	7089	broad.mit.edu	37	19	3006571	3006572	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr19:3006571_3006572CC>AG	ENST00000262953.6	-	15	1608_1609	c.1346_1347GG>CT	c.(1345-1347)cGG>cCT	p.R449P	TLE2_ENST00000426948.2_Missense_Mutation_p.R463P|TLE2_ENST00000443826.3_Missense_Mutation_p.R327P|TLE2_ENST00000447365.2_Missense_Mutation_p.R116P|TLE2_ENST00000455444.2_Missense_Mutation_p.R327P|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Missense_Mutation_p.R450P|TLE2_ENST00000591529.1_Missense_Mutation_p.R463P	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	449					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.R449P(2)|p.R449R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCAGCTGCCGGGCGTGCCG	0.678																																						uc002lww.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(1345-1347)CGG>CGT|c.(1345-1347)CGG>CCG		transducin-like enhancer protein 2 isoform 1																																				SO:0001583	missense	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3006571C>A|g.chr19:3006572C>G	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1346_1347delinsAG	19.37:g.3006571_3006572delinsAG	ENSP00000262953:p.Arg449Pro					TLE2_uc010xhb.1_Silent_p.R116R|TLE2_uc010dth.2_Silent_p.R450R|TLE2_uc010xhc.1_Silent_p.R327R|TLE2_uc010dti.2_Silent_p.R463R|TLE2_uc010xhd.1_Silent_p.R357R|TLE2_uc010xhb.1_Missense_Mutation_p.R116P|TLE2_uc010dth.2_Missense_Mutation_p.R450P|TLE2_uc010xhc.1_Missense_Mutation_p.R327P|TLE2_uc010dti.2_Missense_Mutation_p.R463P|TLE2_uc010xhd.1_Missense_Mutation_p.R357P	p.R449R|p.R449P	NM_003260	NP_003251	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	1610|1609	-			449					B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Silent|Missense_Mutation	SNP	ENST00000262953.6	37	c.1347G>T|c.1346G>C	CCDS45911.1																																																																																				PASS	0.678	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		4	5	4	5	---	---	---	---
C3	718	broad.mit.edu	37	19	6707088	6707088	+	Splice_Site	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr19:6707088C>A	ENST00000245907.6	-	17	2336	c.2244G>T	c.(2242-2244)agG>agT	p.R748S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	748		Cleavage; by C3 convertase.|Cleavage; by carboxypeptidases.			complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.R748S(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GGGACCTACTCCTGGCCAGGC	0.697																																						uc002mfm.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)	5						c.(2242-2244)AGG>AGT		complement component 3 precursor							19.0	20.0	20.0					19																	6707088		2173	4236	6409	SO:0001630	splice_region_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6707088C>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2245+1G>T	19.37:g.6707088C>A							p.R748S	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	17	2306	-			748				Cleavage; by C3 convertase.	A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2244G>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914891	0.72983	.	.	ENSG00000125730	ENST00000245907	T	0.36157	1.27	4.93	-0.204	0.13200	.	0.774034	0.13249	N	0.402271	T	0.45155	0.1328	M	0.88450	2.955	0.48571	D	0.999673	P	0.49358	0.923	P	0.52823	0.71	T	0.58154	-0.7686	10	0.08179	T	0.78	.	3.333	0.07091	0.0:0.3232:0.2157:0.461	.	748	P01024	CO3_HUMAN	S	748	ENSP00000245907:R748S	ENSP00000245907:R748S	R	-	3	2	C3	6658088	0.996000	0.38824	0.995000	0.50966	0.870000	0.49936	0.983000	0.29552	0.127000	0.18452	0.651000	0.88453	AGG		PASS	0.697	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	Missense_Mutation	16	20	16	20	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9090002	9090002	+	Missense_Mutation	SNP	C	C	A	rs540756541		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr19:9090002C>A	ENST00000397910.4	-	1	2016	c.1813G>T	c.(1813-1815)Gtt>Ttt	p.V605F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	605	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V605F(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGTGGGAACAGCAAACTGA	0.547													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20608	0.0		0.0	False		,,,				2504	0.0					uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(1813-1815)GTT>TTT		mucin 16							63.0	66.0	65.0					19																	9090002		2181	4282	6463	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090002C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1813G>T	19.37:g.9090002C>A	ENSP00000381008:p.Val605Phe						p.V605F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	2017	-			605			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1813G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.164	-0.391543	0.04932	.	.	ENSG00000181143	ENST00000397910	T	0.02837	4.14	1.68	-3.35	0.04928	.	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	.	.	.	P	0.46912	0.886	B	0.38327	0.271	T	0.36286	-0.9754	8	0.87932	D	0	.	1.0265	0.01529	0.1913:0.226:0.3803:0.2023	.	605	B5ME49	.	F	605	ENSP00000381008:V605F	ENSP00000381008:V605F	V	-	1	0	MUC16	8951002	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-2.293000	0.01145	-1.730000	0.01362	0.205000	0.17691	GTT		PASS	0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		30	73	30	73	---	---	---	---
ZNF700	90592	broad.mit.edu	37	19	12060436	12060436	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr19:12060436G>C	ENST00000254321.5	+	4	1740	c.1597G>C	c.(1597-1599)Gag>Cag	p.E533Q	ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.E515Q|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	533					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.E533Q(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCACACTGGAGAGAAACCCTA	0.398																																						uc002msu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1597-1599)GAG>CAG		zinc finger protein 700							70.0	71.0	71.0					19																	12060436		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060436G>C	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1597G>C	19.37:g.12060436G>C	ENSP00000254321:p.Glu533Gln					ZNF700_uc010xme.1_Missense_Mutation_p.E551Q|ZNF763_uc010xmf.1_Intron	p.E533Q	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN			4	1723	+			533					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1597G>C	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	10.75	1.438041	0.25900	.	.	ENSG00000196757	ENST00000254321	T	0.25912	1.77	0.615	0.615	0.17608	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23806	0.0576	L	0.42686	1.345	0.24512	N	0.994204	P	0.41498	0.752	B	0.42555	0.391	T	0.16247	-1.0409	9	0.72032	D	0.01	.	8.6873	0.34245	0.0:0.0:1.0:0.0	.	533	Q9H0M5	ZN700_HUMAN	Q	533	ENSP00000254321:E533Q	ENSP00000254321:E533Q	E	+	1	0	ZNF700	11921436	0.000000	0.05858	0.042000	0.18584	0.081000	0.17604	0.516000	0.22817	0.582000	0.29556	0.205000	0.17691	GAG		PASS	0.398	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		58	89	58	89	---	---	---	---
CEP89	84902	broad.mit.edu	37	19	33424558	33424558	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr19:33424558G>A	ENST00000305768.5	-	8	773	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	CEP89_ENST00000590597.2_Missense_Mutation_p.R229C	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	229					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.R229C(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TATCTTTGACGTGCTCTACCA	0.318																																						uc002nty.2																			1	Substitution - Missense(1)		lung(1)		0						c.(685-687)CGT>TGT		coiled-coil domain containing 123							175.0	166.0	169.0					19																	33424558		2202	4299	6501	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33424558G>A	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.685C>T	19.37:g.33424558G>A	ENSP00000306105:p.Arg229Cys					CCDC123_uc002ntx.2_Translation_Start_Site|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Missense_Mutation_p.R229C|CCDC123_uc002nua.2_Missense_Mutation_p.R229C	p.R229C	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN			8	774	-	Esophageal squamous(110;0.137)		229					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.685C>T	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035989	0.54896	.	.	ENSG00000121289	ENST00000305768	T	0.34667	1.35	5.09	5.09	0.68999	.	0.528195	0.19427	N	0.114557	T	0.56819	0.2011	M	0.67953	2.075	0.18873	N	0.999987	D;D	0.89917	1.0;1.0	D;D	0.67382	0.951;0.923	T	0.51317	-0.8721	10	0.66056	D	0.02	-1.2805	14.3481	0.66680	0.0:0.0:1.0:0.0	.	229;229	Q96ST8-3;Q96ST8	.;CEP89_HUMAN	C	229	ENSP00000306105:R229C	ENSP00000306105:R229C	R	-	1	0	CEP89	38116398	0.170000	0.23016	0.037000	0.18230	0.010000	0.07245	2.052000	0.41316	2.526000	0.85167	0.467000	0.42956	CGT		PASS	0.318	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		75	166	75	166	---	---	---	---
NPHS1	4868	broad.mit.edu	37	19	36330456	36330456	+	Missense_Mutation	SNP	C	C	A	rs114849139	byFrequency	TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr19:36330456C>A	ENST00000378910.5	-	21	2868	c.2869G>T	c.(2869-2871)Gtg>Ttg	p.V957L	NPHS1_ENST00000353632.6_Missense_Mutation_p.V957L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	957	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.V957L(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCAGCCCCACGGAGTGTGGG	0.572																																						uc002oby.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2869-2871)GTG>TTG		nephrin precursor							65.0	67.0	66.0					19																	36330456		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36330456C>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2869G>T	19.37:g.36330456C>A	ENSP00000368190:p.Val957Leu					NPHS1_uc010eem.1_5'Flank	p.V957L	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		21	2869	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		957			Fibronectin type-III.|Extracellular (Potential).		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.2869G>T	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569472	0.45798	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.53857	0.6;0.6	5.3	4.27	0.50696	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.139333	0.47093	D	0.000242	T	0.62183	0.2407	L	0.41906	1.305	0.37016	D	0.895987	D	0.89917	1.0	D	0.76071	0.987	T	0.69423	-0.5149	10	0.87932	D	0	-14.256	11.5842	0.50908	0.0:0.9132:0.0:0.0868	.	957	O60500	NPHN_HUMAN	L	957	ENSP00000368190:V957L;ENSP00000343634:V957L	ENSP00000343634:V957L	V	-	1	0	NPHS1	41022296	0.993000	0.37304	0.841000	0.33234	0.081000	0.17604	3.183000	0.50918	1.254000	0.44035	0.585000	0.79938	GTG		PASS	0.572	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			36	90	36	90	---	---	---	---
GMFG	9535	broad.mit.edu	37	19	39819164	39819164	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr19:39819164C>T	ENST00000597595.1	-	7	590	c.382G>A	c.(382-384)Gac>Aac	p.D128N	GMFG_ENST00000601387.1_Missense_Mutation_p.D87N|GMFG_ENST00000253054.8_Missense_Mutation_p.D95N|GMFG_ENST00000600322.1_Missense_Mutation_p.D95N|GMFG_ENST00000598034.1_3'UTR|GMFG_ENST00000595636.1_3'UTR|GMFG_ENST00000594700.1_Missense_Mutation_p.D59N|GMFG_ENST00000602185.1_Missense_Mutation_p.D79N	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma	128	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)	p.D128N(1)		breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCAGTGAGGTCATCAGTGGTG	0.532																																						uc002okz.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(382-384)GAC>AAC		glia maturation factor, gamma							112.0	99.0	104.0					19																	39819164		2203	4300	6503	SO:0001583	missense	9535				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity	g.chr19:39819164C>T	AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.382G>A	19.37:g.39819164C>T	ENSP00000472249:p.Asp128Asn					GMFG_uc002okx.3_3'UTR	p.D128N	NM_004877	NP_004868	O60234	GMFG_HUMAN	Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		7	492	-	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		128			ADF-H.		Q6IB37	Missense_Mutation	SNP	ENST00000597595.1	37	c.382G>A	CCDS12532.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282454	0.59867	.	.	ENSG00000130755	ENST00000253054	.	.	.	4.74	4.74	0.60224	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	M	0.85542	2.76	0.80722	D	1	P	0.38195	0.622	B	0.37144	0.242	T	0.75499	-0.3296	9	0.87932	D	0	-34.4299	15.5969	0.76590	0.0:1.0:0.0:0.0	.	128	O60234	GMFG_HUMAN	N	128	.	ENSP00000253054:D128N	D	-	1	0	GMFG	44511004	1.000000	0.71417	0.958000	0.39756	0.498000	0.33706	6.464000	0.73534	2.615000	0.88500	0.650000	0.86243	GAC		PASS	0.532	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463839.1			41	167	41	167	---	---	---	---
EXOC3L2	90332	broad.mit.edu	37	19	45731017	45731017	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr19:45731017C>A	ENST00000252482.3	-	4	334	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L	EXOC3L2_ENST00000413988.1_Missense_Mutation_p.V103L			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	103					exocytosis (GO:0006887)	exocyst (GO:0000145)		p.V103L(1)		endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		AATCGCTCCACACGCTGCTGG	0.632																																						uc002pay.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(307-309)GTG>TTG		exocyst complex component 3-like 2							81.0	77.0	78.0					19																	45731017		2203	4300	6503	SO:0001583	missense	90332							g.chr19:45731017C>A	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.307G>T	19.37:g.45731017C>A	ENSP00000252482:p.Val103Leu						p.V103L	NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	5	348	-		all_neural(266;0.224)|Ovarian(192;0.231)	103					Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	37	c.307G>T	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630916	0.87660	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.06068	3.35;3.35	4.92	4.92	0.64577	.	0.218601	0.37261	N	0.002172	T	0.09113	0.0225	N	0.21373	0.66	0.38796	D	0.955095	D	0.63046	0.992	P	0.58077	0.832	T	0.34229	-0.9837	10	0.08179	T	0.78	.	13.5966	0.61994	0.0:1.0:0.0:0.0	.	103	Q2M3D2	EX3L2_HUMAN	L	103	ENSP00000252482:V103L;ENSP00000400713:V103L	ENSP00000252482:V103L	V	-	1	0	EXOC3L2	50422857	1.000000	0.71417	0.955000	0.39395	0.930000	0.56654	5.810000	0.69179	2.298000	0.77334	0.491000	0.48974	GTG		PASS	0.632	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		13	6	13	6	---	---	---	---
PPP2R1A	5518	broad.mit.edu	37	19	52723042	52723043	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr19:52723042_52723043GG>TT	ENST00000322088.6	+	10	1285_1286	c.1227_1228GG>TT	c.(1225-1230)gtGGag>gtTTag	p.E410*	CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000444322.2_Nonsense_Mutation_p.E355*|PPP2R1A_ENST00000462990.1_Nonsense_Mutation_p.E231*	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	410	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.E410*(2)|p.V409V(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTGCCATTGTGGAGCTGGCTGA	0.624			Mis		clear cell ovarian carcinoma																																	uc002pyp.2				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(1225-1227)GTG>GTT|c.(1228-1230)GAG>TAG		alpha isoform of regulatory subunit A, protein																																				SO:0001587	stop_gained	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52723042G>T|g.chr19:52723043G>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	Exception_encountered	19.37:g.52723042_52723043delinsTT	ENSP00000324804:p.Glu410*					PPP2R1A_uc010ydk.1_Silent_p.V354V|PPP2R1A_uc002pyq.2_Silent_p.V230V|PPP2R1A_uc010ydk.1_Nonsense_Mutation_p.E355*|PPP2R1A_uc002pyq.2_Nonsense_Mutation_p.E231*	p.V409V|p.E410*	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	10	1386|1387	+			409|410			HEAT 11.|PP2A subunit C binding.		Q13773|Q6ICQ3|Q96DH3	Silent|Nonsense_Mutation	SNP	ENST00000322088.6	37	c.1227G>T|c.1228G>T	CCDS12849.1																																																																																				PASS	0.624	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		5|4	45|47	4	45	---	---	---	---
PPP1R12C	54776	broad.mit.edu	37	19	55602904	55602904	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr19:55602904T>A	ENST00000263433.3	-	22	2300	c.2285A>T	c.(2284-2286)gAc>gTc	p.D762V	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.D699V|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.D687V	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C									p.D762V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCGCTGGTTGTCAGCGCGGAG	0.647																																						uc002qix.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2284-2286)GAC>GTC		protein phosphatase 1, regulatory subunit 12C							53.0	49.0	51.0					19																	55602904		2203	4300	6503	SO:0001583	missense	54776					cytoplasm		g.chr19:55602904T>A	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.2285A>T	19.37:g.55602904T>A	ENSP00000263433:p.Asp762Val					PPP1R12C_uc010yfs.1_Missense_Mutation_p.D687V|PPP1R12C_uc002qiy.2_Missense_Mutation_p.D760V	p.D762V	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	22	2301	-			762			Potential.			Missense_Mutation	SNP	ENST00000263433.3	37	c.2285A>T	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.161424	0.57368	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.16743	2.32;2.32;2.32	4.35	3.32	0.38043	.	0.264417	0.30374	N	0.009764	T	0.37892	0.1020	M	0.81341	2.54	0.53688	D	0.999977	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.83275	0.996;0.976;0.996	T	0.21314	-1.0249	10	0.87932	D	0	.	5.9853	0.19430	0.0:0.117:0.0:0.883	.	687;760;762	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	V	762;699;687	ENSP00000263433:D762V;ENSP00000365573:D699V;ENSP00000387833:D687V	ENSP00000263433:D762V	D	-	2	0	PPP1R12C	60294716	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.590000	0.53979	1.746000	0.51805	0.459000	0.35465	GAC		PASS	0.647	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		29	11	29	11	---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56520216	56520216	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr19:56520216C>T	ENST00000390649.3	+	3	505	c.505C>T	c.(505-507)Cca>Tca	p.P169S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	169					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.P169S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGAAAAAGTGCCAGGTTAGAG	0.468																																						uc002qmj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(505-507)CCA>TCA		NACHT, LRR and PYD containing protein 5							69.0	69.0	69.0					19																	56520216		1936	4151	6087	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56520216C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.505C>T	19.37:g.56520216C>T	ENSP00000375063:p.Pro169Ser					NLRP5_uc002qmi.2_Missense_Mutation_p.P169S	p.P169S	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	3	505	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	169					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.505C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	6.215	0.407900	0.11754	.	.	ENSG00000171487	ENST00000390649	T	0.72167	-0.63	2.56	0.222	0.15288	.	.	.	.	.	T	0.37839	0.1018	N	0.14661	0.345	0.09310	N	1	P	0.42827	0.791	B	0.32393	0.145	T	0.33214	-0.9877	9	0.07644	T	0.81	.	2.8702	0.05615	0.2728:0.5688:0.0:0.1584	.	169	P59047	NALP5_HUMAN	S	169	ENSP00000375063:P169S	ENSP00000375063:P169S	P	+	1	0	NLRP5	61212028	0.013000	0.17824	0.074000	0.20217	0.032000	0.12392	-0.651000	0.05372	0.130000	0.18549	-0.362000	0.07510	CCA		PASS	0.468	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		3	22	3	22	---	---	---	---
SLC27A5	10998	broad.mit.edu	37	19	59012686	59012686	+	Silent	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr19:59012686G>A	ENST00000263093.2	-	4	1258	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	SLC27A5_ENST00000601355.1_Silent_p.G299G|SLC27A5_ENST00000599700.1_5'Flank|SLC27A5_ENST00000594786.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	383					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.G383G(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GCAGGAGCTCGCCCACATACA	0.542																																						uc002qtc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1147-1149)GGC>GGT		solute carrier family 27 (fatty acid							119.0	120.0	119.0					19																	59012686		2203	4300	6503	SO:0001819	synonymous_variant	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59012686G>A	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1149C>T	19.37:g.59012686G>A						SLC27A5_uc002qtb.2_5'Flank	p.G383G	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	4	1259	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	383			Cytoplasmic (Probable).		B3KVP6|B4DPQ1	Silent	SNP	ENST00000263093.2	37	c.1149C>T	CCDS12983.1																																																																																				PASS	0.542	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		6	199	6	199	---	---	---	---
CPXM1	56265	broad.mit.edu	37	20	2774852	2774852	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr20:2774852C>A	ENST00000380605.2	-	14	2253	c.2189G>T	c.(2188-2190)aGg>aTg	p.R730M		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	730					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R730M(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTTCTGTCCCCTTAGCCGCTC	0.607																																						uc002wgu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(2188-2190)AGG>ATG		carboxypeptidase X, member 1 precursor							38.0	43.0	42.0					20																	2774852		2202	4296	6498	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2774852C>A	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.2189G>T	20.37:g.2774852C>A	ENSP00000369979:p.Arg730Met					CPXM1_uc010gas.2_Missense_Mutation_p.R656M	p.R730M	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN			14	2253	-			730					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.2189G>T	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164809	0.78339	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	D	0.96334	-3.98	5.65	4.71	0.59529	.	0.225800	0.44285	D	0.000465	D	0.96306	0.8795	M	0.62723	1.935	0.34606	D	0.717036	D	0.61697	0.99	P	0.52710	0.707	D	0.99819	1.1046	10	0.87932	D	0	-30.6143	12.6253	0.56626	0.0:0.9192:0.0:0.0808	.	730	Q96SM3	CPXM1_HUMAN	M	730;426	ENSP00000369979:R730M	ENSP00000369979:R730M	R	-	2	0	CPXM1	2722852	0.080000	0.21391	0.999000	0.59377	0.943000	0.58893	2.732000	0.47352	1.521000	0.48983	0.655000	0.94253	AGG		PASS	0.607	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		45	83	45	83	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20180530	20180530	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr20:20180530C>T	ENST00000245957.5	+	17	1992	c.1916C>T	c.(1915-1917)gCg>gTg	p.A639V	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		639								p.A639V(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCATCAAAGGCGGTCTCCAAG	0.617																																						uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1915-1917)GCG>GTG		hypothetical protein LOC26074							108.0	100.0	103.0					20																	20180530		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20180530C>T																												ENST00000245957.5:c.1916C>T	20.37:g.20180530C>T	ENSP00000245957:p.Ala639Val					C20orf26_uc010zse.1_Missense_Mutation_p.A619V	p.A639V	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	17	1992	+			639					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1916C>T	CCDS33447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.53|14.53	2.561771|2.561771	0.45590|0.45590	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957|ENST00000431753	T|.	0.22539|.	1.95|.	5.57|5.57	0.324|0.324	0.15898|0.15898	.|.	0.427305|.	0.22287|.	N|.	0.062057|.	T|T	0.46560|0.46560	0.1399|0.1399	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	P;P|.	0.42039|.	0.769;0.709|.	B;B|.	0.36504|.	0.145;0.226|.	T|T	0.20672|0.20672	-1.0268|-1.0268	10|5	0.33141|.	T|.	0.24|.	.|.	17.4128|17.4128	0.87491|0.87491	0.8541:0.1459:0.0:0.0|0.8541:0.1459:0.0:0.0	.|.	619;639|.	F8W6K4;Q8NHU2|.	.;CT026_HUMAN|.	V|W	579;207;619;639|179	ENSP00000245957:A639V|.	ENSP00000245957:A639V|.	A|R	+|+	2|1	0|2	C20orf26|C20orf26	20128530|20128530	0.999000|0.999000	0.42202|0.42202	0.996000|0.996000	0.52242|0.52242	0.998000|0.998000	0.95712|0.95712	0.597000|0.597000	0.24059|0.24059	-0.203000|-0.203000	0.10251|0.10251	0.563000|0.563000	0.77884|0.77884	GCG|CGG		PASS	0.617	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			62	146	62	146	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20269293	20269293	+	Missense_Mutation	SNP	C	C	T	rs140045830		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr20:20269293C>T	ENST00000245957.5	+	23	2913	c.2837C>T	c.(2836-2838)aCg>aTg	p.T946M	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		946								p.T946M(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GATTATGAAACGTTTAAAGCC	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		22606	0.0		0.0	False		,,,				2504	0.001					uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2836-2838)ACG>ATG		hypothetical protein LOC26074		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	210.0	201.0	204.0		2837	5.6	1.0	20	dbSNP_134	204	0,8600		0,0,4300	no	missense	C20orf26	NM_015585.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	946/1238	20269293	1,13005	2203	4300	6503	SO:0001583	missense	26074							g.chr20:20269293C>T																												ENST00000245957.5:c.2837C>T	20.37:g.20269293C>T	ENSP00000245957:p.Thr946Met					C20orf26_uc002wrw.2_Intron	p.T946M	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	23	2913	+			946					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2837C>T	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720955	0.68959	2.27E-4	0.0	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.42900	0.96	5.6	5.6	0.85130	.	0.131333	0.56097	D	0.000032	T	0.63988	0.2558	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.63341	-0.6659	10	0.54805	T	0.06	.	19.6154	0.95632	0.0:1.0:0.0:0.0	.	946	Q8NHU2	CT026_HUMAN	M	886;912;946	ENSP00000245957:T946M	ENSP00000245957:T946M	T	+	2	0	C20orf26	20217293	1.000000	0.71417	0.953000	0.39169	0.732000	0.41865	4.709000	0.61867	2.652000	0.90054	0.650000	0.86243	ACG		PASS	0.408	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			146	328	146	328	---	---	---	---
CST8	10047	broad.mit.edu	37	20	23472353	23472353	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr20:23472353G>T	ENST00000246012.1	+	2	406	c.49G>T	c.(49-51)Gcc>Tcc	p.A17S		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	17					negative regulation of endopeptidase activity (GO:0010951)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.A17S(1)|p.A17T(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CATTCCCCTGGCCCTGGTGGC	0.567																																						uc002wth.1																			2	Substitution - Missense(2)		lung(1)|skin(1)		0						c.(49-51)GCC>TCC		cystatin 8 precursor							106.0	105.0	105.0					20																	23472353		2203	4300	6503	SO:0001583	missense	10047					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23472353G>T	AF059244	CCDS13156.1	20p11.21	2012-08-14			ENSG00000125815	ENSG00000125815			2480	protein-coding gene	gene with protein product		608683				7619504, 20565543	Standard	NM_005492		Approved	CRES, CTES5	uc002wth.1	O60676	OTTHUMG00000032071	ENST00000246012.1:c.49G>T	20.37:g.23472353G>T	ENSP00000246012:p.Ala17Ser						p.A17S	NM_005492	NP_005483	O60676	CST8_HUMAN			2	406	+	Colorectal(13;0.0431)|Lung NSC(19;0.235)		17					Q2M2X6	Missense_Mutation	SNP	ENST00000246012.1	37	c.49G>T	CCDS13156.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.431069	0.25726	.	.	ENSG00000125815	ENST00000449810;ENST00000246012	T;T	0.11821	2.74;3.03	4.05	2.09	0.27110	.	0.499396	0.20822	N	0.085042	T	0.12347	0.0300	L	0.58101	1.795	0.09310	N	1	P	0.37061	0.58	B	0.37601	0.254	T	0.15665	-1.0429	10	0.21014	T	0.42	-1.503	6.5999	0.22695	0.2185:0.0:0.7815:0.0	.	17	O60676	CST8_HUMAN	S	17	ENSP00000399144:A17S;ENSP00000246012:A17S	ENSP00000246012:A17S	A	+	1	0	CST8	23420353	0.102000	0.21896	0.010000	0.14722	0.012000	0.07955	0.178000	0.16820	0.664000	0.31047	-0.136000	0.14681	GCC		PASS	0.567	CST8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078336.1			74	162	74	162	---	---	---	---
NPBWR2	2832	broad.mit.edu	37	20	62737573	62737573	+	Silent	SNP	G	G	C	rs548325567	byFrequency	TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr20:62737573G>C	ENST00000369768.1	-	1	951	c.612C>G	c.(610-612)ccC>ccG	p.P204P		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	204					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.P204P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					AGACCTGCTCGGGCCACGGGA	0.627																																						uc011abt.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(610-612)CCC>CCG		neuropeptides B/W receptor 2							48.0	43.0	44.0					20																	62737573		2201	4293	6494	SO:0001819	synonymous_variant	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737573G>C	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.612C>G	20.37:g.62737573G>C							p.P204P	NM_005286	NP_005277	P48146	NPBW2_HUMAN			1	612	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		204			Extracellular (Potential).		Q6NWQ6|Q9H4K3	Silent	SNP	ENST00000369768.1	37	c.612C>G	CCDS13557.1																																																																																				PASS	0.627	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		13	22	13	22	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22804589	22804589	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr21:22804589C>A	ENST00000400546.1	+	12	1891	c.1642C>A	c.(1642-1644)Cat>Aat	p.H548N	NCAM2_ENST00000284894.7_Missense_Mutation_p.H406N	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	548	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H548N(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGTACGCTCCCATGGAGTTCA	0.408																																						uc002yld.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1642-1644)CAT>AAT		neural cell adhesion molecule 2 precursor							78.0	75.0	76.0					21																	22804589		1852	4090	5942	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22804589C>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1642C>A	21.37:g.22804589C>A	ENSP00000383392:p.His548Asn					NCAM2_uc011acb.1_Missense_Mutation_p.H406N	p.H548N	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	12	1891	+		Lung NSC(9;0.195)	548			Fibronectin type-III 1.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1642C>A	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992630	0.54041	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.56444	0.46;0.46	5.58	5.58	0.84498	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.101356	0.64402	D	0.000002	T	0.47488	0.1448	L	0.34521	1.04	0.80722	D	1	B;B	0.30542	0.284;0.284	B;B	0.36608	0.229;0.229	T	0.33111	-0.9881	10	0.19590	T	0.45	-24.6899	18.1381	0.89627	0.0:1.0:0.0:0.0	.	406;548	B7Z5K2;O15394	.;NCAM2_HUMAN	N	548;406	ENSP00000383392:H548N;ENSP00000284894:H406N	ENSP00000284894:H406N	H	+	1	0	NCAM2	21726460	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.319000	0.51983	2.611000	0.88343	0.655000	0.94253	CAT		PASS	0.408	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		53	23	53	23	---	---	---	---
GRIK1	2897	broad.mit.edu	37	21	31023582	31023582	+	Silent	SNP	A	A	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr21:31023582A>G	ENST00000399907.1	-	6	1221	c.810T>C	c.(808-810)taT>taC	p.Y270Y	GRIK1_ENST00000389124.2_Silent_p.Y270Y|GRIK1_ENST00000399914.1_Silent_p.Y270Y|GRIK1_ENST00000389125.3_Silent_p.Y270Y|GRIK1_ENST00000399909.1_Silent_p.Y270Y|GRIK1_ENST00000399913.1_Silent_p.Y270Y|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000327783.4_Silent_p.Y270Y|GRIK1_ENST00000535441.1_Silent_p.Y270Y|GRIK1_ENST00000309434.7_Silent_p.Y270Y	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	270					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.Y270Y(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CACTGTACCTATAGAGTTCCA	0.383																																						uc002yno.1																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(808-810)TAT>TAC		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						66.0	56.0	60.0					21																	31023582		2203	4300	6503	SO:0001819	synonymous_variant	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31023582A>G		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.810T>C	21.37:g.31023582A>G						GRIK1_uc002ynn.2_Silent_p.Y270Y|GRIK1_uc011acs.1_Silent_p.Y270Y|GRIK1_uc011act.1_Silent_p.Y214Y|GRIK1_uc010glq.1_Silent_p.Y128Y|GRIK1_uc002ynr.2_Silent_p.Y270Y	p.Y270Y	NM_000830	NP_000821	P39086	GRIK1_HUMAN			6	1274	-			270			Extracellular (Potential).		Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	c.810T>C	CCDS42913.1																																																																																				PASS	0.383	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			61	23	61	23	---	---	---	---
XKR3	150165	broad.mit.edu	37	22	17264895	17264895	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr22:17264895C>T	ENST00000331428.5	-	4	1096	c.994G>A	c.(994-996)Gac>Aac	p.D332N		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	332						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D332N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ATTATTTTGTCATCTGACAAC	0.408																																						uc002zlv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(994-996)GAC>AAC		X Kell blood group precursor-related family,							61.0	55.0	57.0					22																	17264895		1526	3497	5023	SO:0001583	missense	150165					integral to membrane|plasma membrane		g.chr22:17264895C>T	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.994G>A	22.37:g.17264895C>T	ENSP00000331704:p.Asp332Asn					XKR3_uc011agf.1_Missense_Mutation_p.D332N	p.D332N	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN			4	1092	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	332					B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	c.994G>A	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	12.47	1.947368	0.34377	.	.	ENSG00000172967	ENST00000331428	T	0.59224	0.28	0.771	0.771	0.18504	.	0.817659	0.10715	U	0.642380	T	0.30541	0.0768	N	0.08118	0	0.19945	N	0.999947	B	0.21309	0.054	B	0.16722	0.016	T	0.18085	-1.0348	10	0.22706	T	0.39	.	4.7237	0.12931	0.0:0.5935:0.4065:0.0	.	332	Q5GH77	XKR3_HUMAN	N	332	ENSP00000331704:D332N	ENSP00000331704:D332N	D	-	1	0	XKR3	15644895	0.115000	0.22152	0.229000	0.23960	0.048000	0.14542	0.242000	0.18087	0.757000	0.33036	0.297000	0.19635	GAC		PASS	0.408	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		70	200	70	200	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26164516	26164516	+	Silent	SNP	G	G	A	rs200084480		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr22:26164516G>A	ENST00000407587.2	+	4	802	c.633G>A	c.(631-633)ccG>ccA	p.P211P	MYO18B_ENST00000536101.1_Silent_p.P211P|MYO18B_ENST00000335473.7_Silent_p.P211P			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	211						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P211P(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCTTGGCCCCGAAAGCTGAGA	0.597																																						uc003abz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(631-633)CCG>CCA		myosin XVIIIB		G		0,3682		0,0,1841	18.0	21.0	20.0		633	-6.3	0.0	22		20	1,8161		0,1,4080	no	coding-synonymous	MYO18B	NM_032608.5		0,1,5921	AA,AG,GG		0.0123,0.0,0.0084		211/2568	26164516	1,11843	1841	4081	5922	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26164516G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.633G>A	22.37:g.26164516G>A						MYO18B_uc003aca.1_Silent_p.P92P|MYO18B_uc010guy.1_Silent_p.P92P|MYO18B_uc010guz.1_Silent_p.P92P|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	p.P211P	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			4	883	+			211					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.633G>A																																																																																					PASS	0.597	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		14	9	14	9	---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31289967	31289967	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr22:31289967T>C	ENST00000332585.6	+	12	2458	c.2354T>C	c.(2353-2355)cTg>cCg	p.L785P	OSBP2_ENST00000403222.3_Missense_Mutation_p.L619P|OSBP2_ENST00000407373.1_Missense_Mutation_p.L612P|OSBP2_ENST00000496575.1_3'UTR|OSBP2_ENST00000535268.1_Missense_Mutation_p.L329P|OSBP2_ENST00000446658.2_Missense_Mutation_p.L784P|OSBP2_ENST00000437268.2_Missense_Mutation_p.L527P|OSBP2_ENST00000382310.3_Missense_Mutation_p.L736P|OSBP2_ENST00000401475.1_Missense_Mutation_p.L418P	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	785					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)	p.L785P(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GCCAAGCTGCTGTGGAAGAAG	0.592																																						uc003aiy.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(2353-2355)CTG>CCG		oxysterol binding protein 2 isoform a							22.0	25.0	24.0					22																	31289967		2033	4185	6218	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31289967T>C		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.2354T>C	22.37:g.31289967T>C	ENSP00000332576:p.Leu785Pro					OSBP2_uc011ala.1_Missense_Mutation_p.L619P|OSBP2_uc010gwc.1_Missense_Mutation_p.L612P|OSBP2_uc011alb.1_Missense_Mutation_p.L736P|OSBP2_uc003aiz.1_Missense_Mutation_p.L784P|OSBP2_uc003aja.1_Missense_Mutation_p.L418P|OSBP2_uc011alc.1_Missense_Mutation_p.L527P|OSBP2_uc003ajb.2_Missense_Mutation_p.L330P|OSBP2_uc011ald.1_Missense_Mutation_p.L329P|OSBP2_uc010gwd.1_Intron	p.L785P	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN			12	2458	+			785					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.2354T>C	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.2|21.2	4.114230|4.114230	0.77210|0.77210	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000431368|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000401475;ENST00000437268;ENST00000535268	.|T;T;T;T;T;T;T;T	.|0.35973	.|1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.71888|0.71888	0.3393|0.3393	H|H	0.96080|0.96080	3.765|3.765	0.80722|0.80722	D|D	1|1	.|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	.|0.87578	.|0.994;0.997;0.997;0.997;0.998;0.998	T|T	0.82061|0.82061	-0.0644|-0.0644	5|10	.|0.87932	.|D	.|0	-1.2523|-1.2523	14.8514|14.8514	0.70300|0.70300	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|527;736;619;612;784;785	.|F5H2A3;B4DFA8;B4DKE4;Q6ZN50;Q0VF99;Q969R2	.|.;.;.;.;.;OSBP2_HUMAN	R|P	457|619;612;785;736;784;418;527;329	.|ENSP00000384213:L619P;ENSP00000385237:L612P;ENSP00000332576:L785P;ENSP00000371747:L736P;ENSP00000392080:L784P;ENSP00000385254:L418P;ENSP00000389200:L527P;ENSP00000438713:L329P	.|ENSP00000332576:L785P	C|L	+|+	1|2	0|0	OSBP2|OSBP2	29619967|29619967	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.757000|0.757000	0.42996|0.42996	7.997000|7.997000	0.88414|0.88414	1.990000|1.990000	0.58119|0.58119	0.459000|0.459000	0.35465|0.35465	TGT|CTG		PASS	0.592	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		4	8	4	8	---	---	---	---
CERK	64781	broad.mit.edu	37	22	47087573	47087573	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr22:47087573C>G	ENST00000216264.8	-	11	1340	c.1228G>C	c.(1228-1230)Gct>Cct	p.A410P	CERK_ENST00000541677.1_Missense_Mutation_p.A212P|CERK_ENST00000471929.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	410					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)	p.A410P(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AAGTGGGCAGCCGGGGAGAGG	0.572																																						uc003bia.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1228-1230)GCT>CCT		ceramide kinase							43.0	42.0	42.0					22																	47087573		2203	4300	6503	SO:0001583	missense	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47087573C>G	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1228G>C	22.37:g.47087573C>G	ENSP00000216264:p.Ala410Pro					CERK_uc010hae.2_Missense_Mutation_p.A212P	p.A410P	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	11	1335	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	410					A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	ENST00000216264.8	37	c.1228G>C	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	c	8.720	0.914197	0.17907	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.44482	0.92;0.92	4.68	2.48	0.30137	.	0.554145	0.19655	N	0.109107	T	0.37237	0.0996	L	0.60455	1.87	0.09310	N	1	P	0.41159	0.74	B	0.43386	0.418	T	0.12293	-1.0553	10	0.29301	T	0.29	-20.8617	5.0489	0.14497	0.1723:0.6492:0.0:0.1786	.	410	Q8TCT0	CERK1_HUMAN	P	410;212	ENSP00000216264:A410P;ENSP00000438659:A212P	ENSP00000216264:A410P	A	-	1	0	CERK	45466237	0.142000	0.22610	0.012000	0.15200	0.028000	0.11728	0.819000	0.27308	0.899000	0.36444	0.563000	0.77884	GCT		PASS	0.572	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		30	43	30	43	---	---	---	---
GPR143	4935	broad.mit.edu	37	X	9728759	9728759	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:9728759C>G	ENST00000467482.1	-	2	504	c.358G>C	c.(358-360)Gcg>Ccg	p.A120P	GPR143_ENST00000380929.2_Missense_Mutation_p.A140P			P51810	GP143_HUMAN	G protein-coupled receptor 143	120					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)	p.A140P(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				GGACTCACCGCACTCCCCACG	0.542																																						uc004cst.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(418-420)GCG>CCG		G protein-coupled receptor 143							82.0	59.0	67.0					X																	9728759		2202	4297	6499	SO:0001583	missense	4935				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	g.chrX:9728759C>G	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.358G>C	X.37:g.9728759C>G	ENSP00000417161:p.Ala120Pro						p.A140P	NM_000273	NP_000264	P51810	GP143_HUMAN			2	418	-		Hepatocellular(5;0.000888)	120			Extracellular (Potential).		Q6NTI7	Missense_Mutation	SNP	ENST00000467482.1	37	c.418G>C	CCDS14134.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.43|17.43	3.387109|3.387109	0.61956|0.61956	.|.	.|.	ENSG00000101850|ENSG00000101850	ENST00000467482;ENST00000380929;ENST00000431126|ENST00000447366	D;D;D|.	0.99413|.	-5.86;-5.86;-5.86|.	4.47|4.47	4.47|4.47	0.54385|0.54385	.|.	0.182166|.	0.46442|.	D|.	0.000291|.	T|T	0.71039|0.71039	0.3293|0.3293	M|M	0.68593|0.68593	2.085|2.085	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.62365|.	0.991|.	P|.	0.62184|.	0.899|.	T|T	0.71609|0.71609	-0.4541|-0.4541	10|5	0.72032|.	D|.	0.01|.	-9.2385|-9.2385	13.7309|13.7309	0.62787|0.62787	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	120|.	P51810|.	GP143_HUMAN|.	P|S	120;140;36|55	ENSP00000417161:A120P;ENSP00000370316:A140P;ENSP00000406138:A36P|.	ENSP00000370316:A140P|.	A|C	-|-	1|2	0|0	GPR143|GPR143	9688759|9688759	1.000000|1.000000	0.71417|0.71417	0.600000|0.600000	0.28864|0.28864	0.538000|0.538000	0.34931|0.34931	3.664000|3.664000	0.54525|0.54525	1.805000|1.805000	0.52779|0.52779	0.466000|0.466000	0.42574|0.42574	GCG|TGC		PASS	0.542	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273		7	21	7	21	---	---	---	---
CLCN4	1183	broad.mit.edu	37	X	10182002	10182002	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:10182002G>A	ENST00000380833.4	+	11	2249	c.1858G>A	c.(1858-1860)Gag>Aag	p.E620K	AC003666.1_ENST00000410201.1_RNA|CLCN4_ENST00000421085.2_Missense_Mutation_p.E526K|CLCN4_ENST00000380829.1_Missense_Mutation_p.E589K	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	620	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.E620K(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CATGACTGTCGAGGACGTGGA	0.632																																					Melanoma(74;1050 1296 1576 30544 38374)	uc004csy.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1858-1860)GAG>AAG		chloride channel 4							38.0	31.0	34.0					X																	10182002		2203	4300	6503	SO:0001583	missense	1183					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10182002G>A	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1858G>A	X.37:g.10182002G>A	ENSP00000370213:p.Glu620Lys					CLCN4_uc011mid.1_Missense_Mutation_p.E526K	p.E620K	NM_001830	NP_001821	P51793	CLCN4_HUMAN			11	2288	+			620			CBS 1.|Cytoplasmic (By similarity).		A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.1858G>A	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728669	0.48833	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.93426	-3.22;-3.22;-3.22	5.29	5.29	0.74685	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.90116	0.6912	L	0.48174	1.505	0.80722	D	1	P	0.35600	0.511	B	0.28232	0.087	D	0.89427	0.3714	10	0.40728	T	0.16	-40.9425	18.0653	0.89389	0.0:0.0:1.0:0.0	.	620	P51793	CLCN4_HUMAN	K	620;589;526	ENSP00000370213:E620K;ENSP00000370209:E589K;ENSP00000405754:E526K	ENSP00000370209:E589K	E	+	1	0	CLCN4	10142002	1.000000	0.71417	0.901000	0.35422	0.045000	0.14185	9.653000	0.98506	2.202000	0.70862	0.513000	0.50165	GAG		PASS	0.632	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			7	84	7	84	---	---	---	---
AMELX	265	broad.mit.edu	37	X	11316790	11316790	+	Silent	SNP	A	A	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:11316790A>G	ENST00000380714.3	+	5	335	c.267A>G	c.(265-267)ccA>ccG	p.P89P	ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000380712.3_Silent_p.P103P|AMELX_ENST00000348912.4_Silent_p.P73P|ARHGAP6_ENST00000380718.1_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	89					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)	p.P103P(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CAGTGGTGCCAGCTCAGCAGC	0.622																																						uc004cut.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(265-267)CCA>CCG		amelogenin (X chromosome) isoform 1 precursor							150.0	124.0	133.0					X																	11316790		2203	4300	6503	SO:0001819	synonymous_variant	265				cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	g.chrX:11316790A>G		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.267A>G	X.37:g.11316790A>G						ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cus.2_Silent_p.P103P|AMELX_uc004cuu.2_Silent_p.P73P	p.P89P	NM_001142	NP_001133	Q99217	AMELX_HUMAN			5	335	+			89					Q96NW6|Q9UCA7	Silent	SNP	ENST00000380714.3	37	c.267A>G	CCDS14144.1																																																																																				PASS	0.622	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142		79	199	79	199	---	---	---	---
EGFL6	25975	broad.mit.edu	37	X	13651197	13651197	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:13651197T>G	ENST00000361306.1	+	12	1902	c.1645T>G	c.(1645-1647)Tta>Gta	p.L549V	EGFL6_ENST00000380602.3_Missense_Mutation_p.L550V	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	549					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.L550V(1)|p.L549V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AGATAGCCTTTTATCTGTGGA	0.398																																						uc004cvi.2																			2	Substitution - Missense(2)		lung(2)	breast(2)	2						c.(1645-1647)TTA>GTA		epidermal growth factor-like protein 6							192.0	155.0	168.0					X																	13651197		2203	4300	6503	SO:0001583	missense	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13651197T>G	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.1645T>G	X.37:g.13651197T>G	ENSP00000355126:p.Leu549Val					EGFL6_uc004cvj.2_Missense_Mutation_p.L550V	p.L549V	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN			12	1885	+			549					B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	ENST00000361306.1	37	c.1645T>G	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.704184	0.48412	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	T;T	0.70399	-0.48;-0.36	4.5	-0.155	0.13395	.	0.955458	0.08567	N	0.926621	T	0.55114	0.1900	L	0.28740	0.885	0.09310	N	1	B;B	0.18968	0.008;0.032	B;B	0.17722	0.011;0.019	T	0.44221	-0.9342	10	0.52906	T	0.07	.	5.2066	0.15295	0.0:0.4722:0.1722:0.3556	.	550;549	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	V	549;550	ENSP00000355126:L549V;ENSP00000369976:L550V	ENSP00000355126:L549V	L	+	1	2	EGFL6	13561118	0.000000	0.05858	0.003000	0.11579	0.898000	0.52572	-0.012000	0.12699	-0.228000	0.09869	0.376000	0.23039	TTA		PASS	0.398	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		9	263	9	263	---	---	---	---
PHEX	5251	broad.mit.edu	37	X	22245715	22245715	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:22245715T>C	ENST00000379374.4	+	20	2622	c.2057T>C	c.(2056-2058)cTg>cCg	p.L686P	PHEX_ENST00000535894.1_Missense_Mutation_p.L589P|PHEX_ENST00000418858.3_Missense_Mutation_p.L389P|PHEX_ENST00000537599.1_Missense_Mutation_p.L686P	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	686					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L686P(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTCTTCTTCCTGAGTTATGCT	0.458																																						uc004dah.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(2056-2058)CTG>CCG		phosphate-regulating neutral endopeptidase							113.0	82.0	92.0					X																	22245715		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22245715T>C	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.2057T>C	X.37:g.22245715T>C	ENSP00000368682:p.Leu686Pro					PHEX_uc011mjr.1_Missense_Mutation_p.L686P|PHEX_uc011mjs.1_Missense_Mutation_p.L589P	p.L686P	NM_000444	NP_000435	P78562	PHEX_HUMAN			20	2260	+			686					O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.2057T>C	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.563568	0.65651	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.38	5.38	0.77491	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.378995	0.27206	N	0.020436	D	0.92616	0.7654	M	0.92122	3.275	0.80722	D	1	D;D	0.56287	0.969;0.975	P;P	0.57846	0.736;0.828	D	0.94004	0.7278	10	0.87932	D	0	.	13.0068	0.58710	0.0:0.0:0.0:1.0	.	686;686	F5GXU4;P78562	.;PHEX_HUMAN	P	686;686;589;389	ENSP00000368682:L686P;ENSP00000440362:L686P;ENSP00000439418:L589P;ENSP00000443531:L389P	ENSP00000368682:L686P	L	+	2	0	PHEX	22155636	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.013000	0.76373	1.786000	0.52430	0.486000	0.48141	CTG		PASS	0.458	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		104	138	104	138	---	---	---	---
PDK3	5165	broad.mit.edu	37	X	24483633	24483633	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:24483633C>T	ENST00000379162.4	+	1	296	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	PDK3_ENST00000441463.2_Missense_Mutation_p.R21C	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	21					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.R21C(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCGCTACTCGCGCTTTTCGCC	0.697																																						uc004dbg.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(61-63)CGC>TGC		pyruvate dehydrogenase kinase 3 isoform 2							17.0	19.0	18.0					X																	24483633		2200	4294	6494	SO:0001583	missense	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24483633C>T	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.61C>T	X.37:g.24483633C>T	ENSP00000368460:p.Arg21Cys					PDK3_uc004dbh.2_Missense_Mutation_p.R21C	p.R21C	NM_005391	NP_005382	Q15120	PDK3_HUMAN			1	290	+			21					B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	c.61C>T	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391270	0.42410	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.46451	0.87;1.48	3.91	3.03	0.35002	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (2);	0.120549	0.51477	D	0.000090	T	0.41696	0.1170	M	0.76328	2.33	0.54753	D	0.999983	B;B	0.15719	0.004;0.014	B;B	0.08055	0.003;0.003	T	0.36286	-0.9754	10	0.48119	T	0.1	.	10.3327	0.43831	0.3549:0.6451:0.0:0.0	.	21;21	B4DXG6;Q15120	.;PDK3_HUMAN	C	21	ENSP00000368460:R21C;ENSP00000387536:R21C	ENSP00000368460:R21C	R	+	1	0	PDK3	24393554	0.999000	0.42202	0.908000	0.35775	0.901000	0.52897	2.520000	0.45554	0.775000	0.33450	0.292000	0.19580	CGC		PASS	0.697	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		13	27	13	27	---	---	---	---
CYBB	1536	broad.mit.edu	37	X	37663354	37663354	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:37663354G>T	ENST00000378588.4	+	9	1189	c.1122G>T	c.(1120-1122)caG>caT	p.Q374H	CYBB_ENST00000536160.1_Missense_Mutation_p.Q107H|CYBB_ENST00000545017.1_Missense_Mutation_p.Q342H|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	374	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				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)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)	p.Q374H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	GTGATAAGCAGGAGTTTCAAG	0.453																																						uc004ddr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1120-1122)CAG>CAT		cytochrome b-245 beta polypeptide							72.0	67.0	69.0					X																	37663354		2202	4300	6502	SO:0001583	missense	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37663354G>T	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1122G>T	X.37:g.37663354G>T	ENSP00000367851:p.Gln374His					CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.Q342H|CYBB_uc011mkg.1_Missense_Mutation_p.Q107H	p.Q374H	NM_000397	NP_000388	P04839	CY24B_HUMAN			9	1183	+			374			Cytoplasmic (Potential).|FAD-binding FR-type.		A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	c.1122G>T	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055864	0.36277	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	D;D;D	0.93906	-3.31;-3.31;-3.31	5.77	3.68	0.42216	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.519131	0.18107	N	0.151470	D	0.89567	0.6752	L	0.40543	1.245	0.39054	D	0.960385	P;P	0.40107	0.654;0.703	B;B	0.43478	0.296;0.421	D	0.87304	0.2307	10	0.46703	T	0.11	.	5.8092	0.18457	0.2678:0.0:0.5826:0.1496	.	342;374	F5GWD2;P04839	.;CY24B_HUMAN	H	374;342;107	ENSP00000367851:Q374H;ENSP00000441896:Q342H;ENSP00000441958:Q107H	ENSP00000367851:Q374H	Q	+	3	2	CYBB	37548298	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.466000	0.22019	1.197000	0.43143	0.544000	0.68410	CAG		PASS	0.453	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			61	121	61	121	---	---	---	---
SYTL5	94122	broad.mit.edu	37	X	37969625	37969625	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:37969625T>A	ENST00000357972.5	+	13	2032	c.1486T>A	c.(1486-1488)Tgg>Agg	p.W496R	SYTL5_ENST00000297875.2_Missense_Mutation_p.W496R|SYTL5_ENST00000456733.2_Missense_Mutation_p.W518R|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	496	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.W496R(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GCTCTCAGTCTGGCACTATGA	0.448																																						uc004ddu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1486-1488)TGG>AGG		synaptotagmin-like 5 isoform 1							155.0	123.0	134.0					X																	37969625		2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37969625T>A		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1486T>A	X.37:g.37969625T>A	ENSP00000350657:p.Trp496Arg					SYTL5_uc004ddv.2_Missense_Mutation_p.W496R|SYTL5_uc004ddx.2_Missense_Mutation_p.W518R	p.W496R	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			14	2020	+			496			C2 1.		A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.1486T>A	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.272503	0.80580	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.70749	-0.51;-0.51;-0.51	5.79	5.79	0.91817	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.89132	0.6628	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92450	0.5969	10	0.87932	D	0	-14.7471	15.109	0.72340	0.0:0.0:0.0:1.0	.	518;496	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	R	496;496;518	ENSP00000297875:W496R;ENSP00000350657:W496R;ENSP00000395220:W518R	ENSP00000297875:W496R	W	+	1	0	SYTL5	37854569	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	7.671000	0.83941	1.951000	0.56629	0.430000	0.28490	TGG		PASS	0.448	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		175	194	175	194	---	---	---	---
PORCN	64840	broad.mit.edu	37	X	48372703	48372703	+	Silent	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:48372703G>T	ENST00000326194.6	+	8	838	c.795G>T	c.(793-795)acG>acT	p.T265T	PORCN_ENST00000361988.3_Silent_p.T254T|PORCN_ENST00000359882.4_Silent_p.T259T|PORCN_ENST00000367574.4_Silent_p.T183T|PORCN_ENST00000355961.4_Silent_p.T260T|PORCN_ENST00000355092.3_Silent_p.T259T|PORCN_ENST00000537758.1_Silent_p.T265T	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	265					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)	p.T265T(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCGAGGCCACGGCCACGTTGG	0.627																																						uc010nie.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(793-795)ACG>ACT		porcupine isoform D							49.0	42.0	45.0					X																	48372703		2203	4300	6503	SO:0001819	synonymous_variant	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48372703G>T	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.795G>T	X.37:g.48372703G>T						PORCN_uc004djr.1_Silent_p.T260T|PORCN_uc004djs.1_Silent_p.T254T|PORCN_uc004djt.1_Silent_p.T183T|PORCN_uc011mlx.1_Silent_p.T183T|PORCN_uc004dju.1_Silent_p.T123T|PORCN_uc004djv.1_Silent_p.T265T|PORCN_uc004djw.1_Silent_p.T259T	p.T265T	NM_203475	NP_982301	Q9H237	PORCN_HUMAN			9	953	+			265			Helical; (Potential).		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Silent	SNP	ENST00000326194.6	37	c.795G>T	CCDS14299.1																																																																																				PASS	0.627	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		68	77	68	77	---	---	---	---
TBC1D25	4943	broad.mit.edu	37	X	48418069	48418069	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:48418069T>A	ENST00000376771.4	+	6	1114	c.773T>A	c.(772-774)aTg>aAg	p.M258K	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000476141.1_3'UTR|TBC1D25_ENST00000537536.1_Missense_Mutation_p.M4K	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	258	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)	p.M258K(1)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ATGGACTACATGAAACGCAAG	0.592																																						uc004dka.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(772-774)ATG>AAG		TBC1 domain family, member 25							70.0	65.0	67.0					X																	48418069		2203	4300	6503	SO:0001583	missense	4943					intracellular	Rab GTPase activator activity	g.chrX:48418069T>A	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.773T>A	X.37:g.48418069T>A	ENSP00000365962:p.Met258Lys					TBC1D25_uc011mly.1_Missense_Mutation_p.M200K|TBC1D25_uc004dkb.1_Missense_Mutation_p.M4K|TBC1D25_uc011mlz.1_Missense_Mutation_p.M4K|TBC1D25_uc011mma.1_Missense_Mutation_p.M4K|TBC1D25_uc004dkc.1_Missense_Mutation_p.M4K|TBC1D25_uc011mmb.1_Missense_Mutation_p.M262K|TBC1D25_uc011mmc.1_Missense_Mutation_p.M4K|TBC1D25_uc011mmd.1_Missense_Mutation_p.M4K	p.M258K	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN			6	884	+			258			Rab-GAP TBC.		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	c.773T>A	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.057261	0.76074	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.42513	3.08;0.97	5.68	5.68	0.88126	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.50103	0.1596	L	0.41415	1.275	0.58432	D	0.999994	D;D;P	0.63046	0.992;0.978;0.757	P;P;P	0.57846	0.828;0.828;0.58	T	0.52653	-0.8547	10	0.72032	D	0.01	-4.7394	12.7643	0.57383	0.0:0.0:0.0:1.0	.	262;200;258	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	K	258;4	ENSP00000365962:M258K;ENSP00000444091:M4K	ENSP00000365962:M258K	M	+	2	0	TBC1D25	48303013	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.394000	0.79862	1.921000	0.55644	0.430000	0.28490	ATG		PASS	0.592	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		43	66	43	66	---	---	---	---
CACNA1F	778	broad.mit.edu	37	X	49074999	49074999	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:49074999G>A	ENST00000376265.2	-	24	2937	c.2876C>T	c.(2875-2877)tCc>tTc	p.S959F	CACNA1F_ENST00000323022.5_Missense_Mutation_p.S948F|CACNA1F_ENST00000376251.1_Missense_Mutation_p.S894F	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	959					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.S959F(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)	GATGGCGCTGGAGCTGGGGAA	0.622																																						uc004dnb.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(2875-2877)TCC>TTC		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						33.0	29.0	30.0					X																	49074999		2199	4292	6491	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49074999G>A	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.2876C>T	X.37:g.49074999G>A	ENSP00000365441:p.Ser959Phe					CACNA1F_uc010nip.2_Missense_Mutation_p.S948F	p.S959F	NM_005183	NP_005174	O60840	CAC1F_HUMAN			24	2938	-			959			III.|Extracellular (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.2876C>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	25.5	4.642489	0.87859	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97731	-4.51;-4.51;-4.51	5.39	5.39	0.77823	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98823	0.9603	M	0.87682	2.9	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99802	1.1036	10	0.66056	D	0.02	.	16.9192	0.86159	0.0:0.0:1.0:0.0	.	948;959	F5CIQ9;O60840	.;CAC1F_HUMAN	F	894;948;959	ENSP00000365427:S894F;ENSP00000321618:S948F;ENSP00000365441:S959F	ENSP00000321618:S948F	S	-	2	0	CACNA1F	48961943	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.869000	0.99810	2.257000	0.74773	0.529000	0.55759	TCC		PASS	0.622	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		7	26	7	26	---	---	---	---
FAM120C	54954	broad.mit.edu	37	X	54161493	54161493	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:54161493C>G	ENST00000375180.2	-	7	1443	c.1387G>C	c.(1387-1389)Gga>Cga	p.G463R	FAM120C_ENST00000328235.4_Missense_Mutation_p.G463R	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	463							poly(A) RNA binding (GO:0044822)	p.G463R(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GAGTTGGGTCCCACTGGGAAT	0.458																																						uc004dsz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1387-1389)GGA>CGA		hypothetical protein LOC54954							80.0	76.0	77.0					X																	54161493		2203	4300	6503	SO:0001583	missense	54954							g.chrX:54161493C>G	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.1387G>C	X.37:g.54161493C>G	ENSP00000364324:p.Gly463Arg					FAM120C_uc011moh.1_Missense_Mutation_p.G463R	p.G463R	NM_017848	NP_060318	Q9NX05	F120C_HUMAN			7	1470	-			463					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.1387G>C	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005543	0.35415	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.45668	0.89;0.89	5.82	4.04	0.47022	.	0.376195	0.28317	N	0.015793	T	0.31544	0.0800	L	0.27053	0.805	0.80722	D	1	B;B	0.23377	0.084;0.035	B;B	0.28011	0.085;0.015	T	0.10497	-1.0627	10	0.44086	T	0.13	-4.638	11.2612	0.49085	0.0:0.8416:0.0:0.1584	.	463;463	F8W881;Q9NX05	.;F120C_HUMAN	R	463	ENSP00000364324:G463R;ENSP00000329896:G463R	ENSP00000329896:G463R	G	-	1	0	FAM120C	54178218	0.977000	0.34250	1.000000	0.80357	0.992000	0.81027	1.972000	0.40540	1.227000	0.43598	0.600000	0.82982	GGA		PASS	0.458	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		62	73	62	73	---	---	---	---
ZC3H12B	340554	broad.mit.edu	37	X	64721936	64721936	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:64721936T>C	ENST00000338957.4	+	5	1425	c.1358T>C	c.(1357-1359)aTt>aCt	p.I453T	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.I442T	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	453							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.I303T(1)|p.I389T(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGCTGTCCATTGCCCGTAAG	0.567																																						uc010nko.2																			2	Substitution - Missense(2)		lung(2)	lung(1)|kidney(1)|pancreas(1)	3						c.(1324-1326)ATT>ACT		zinc finger CCCH-type containing 12B							72.0	77.0	75.0					X																	64721936		2073	4186	6259	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64721936T>C	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1358T>C	X.37:g.64721936T>C	ENSP00000340839:p.Ile453Thr						p.I442T	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			5	1334	+			442					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.1325T>C	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.692446	0.00731	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.21932	1.99;1.98	4.56	4.56	0.56223	.	0.423542	0.25890	N	0.027637	T	0.07052	0.0179	N	0.04508	-0.205	0.09310	N	1	B	0.29716	0.255	B	0.19666	0.026	T	0.28170	-1.0052	10	0.15066	T	0.55	-57.4883	5.0393	0.14451	0.0:0.2135:0.0:0.7865	.	442	Q5HYM0	ZC12B_HUMAN	T	453;442;389	ENSP00000340839:I453T;ENSP00000408077:I442T	ENSP00000218172:I389T	I	+	2	0	ZC3H12B	64638661	0.482000	0.25948	0.987000	0.45799	0.964000	0.63967	1.587000	0.36622	1.683000	0.51011	0.417000	0.27973	ATT		PASS	0.567	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		19	21	19	21	---	---	---	---
RPS6KA6	27330	broad.mit.edu	37	X	83362666	83362666	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:83362666C>G	ENST00000262752.2	-	13	1083	c.1076G>C	c.(1075-1077)tGt>tCt	p.C359S	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.C359S|RPS6KA6_ENST00000495332.1_5'Flank	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	359	AGC-kinase C-terminal.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.C359S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AGGATCAAAACAAAAAGTATC	0.299																																						uc004eej.1																			1	Substitution - Missense(1)		lung(1)	lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						c.(1075-1077)TGT>TCT		ribosomal protein S6 kinase polypeptide 6							53.0	50.0	51.0					X																	83362666		2202	4294	6496	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83362666C>G	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1076G>C	X.37:g.83362666C>G	ENSP00000262752:p.Cys359Ser					RPS6KA6_uc011mqt.1_Missense_Mutation_p.C359S|RPS6KA6_uc011mqu.1_Missense_Mutation_p.C256S	p.C359S	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			13	1153	-			359			AGC-kinase C-terminal.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.1076G>C	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	C	8.435	0.849433	0.17034	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.57273	0.41;0.41	4.26	2.48	0.30137	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.103037	0.64402	D	0.000002	T	0.34629	0.0904	N	0.22421	0.69	0.54753	D	0.999983	B;B	0.18461	0.028;0.028	B;B	0.14578	0.011;0.011	T	0.06338	-1.0832	10	0.27785	T	0.31	.	9.7745	0.40609	0.0:0.824:0.0:0.176	.	359;359	B7ZL90;Q9UK32	.;KS6A6_HUMAN	S	359	ENSP00000262752:C359S;ENSP00000440830:C359S	ENSP00000262752:C359S	C	-	2	0	RPS6KA6	83249322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.897000	0.48664	0.228000	0.21019	0.600000	0.82982	TGT		PASS	0.299	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		3	77	3	77	---	---	---	---
NAP1L3	4675	broad.mit.edu	37	X	92927456	92927456	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:92927456C>A	ENST00000373079.3	-	1	1111	c.848G>T	c.(847-849)aGa>aTa	p.R283I	FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.R276I|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000332647.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	283					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.R283I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CTCAGGAACTCTTTTATGAGT	0.453																																						uc004efq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(847-849)AGA>ATA		nucleosome assembly protein 1-like 3							102.0	95.0	97.0					X																	92927456		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927456C>A		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.848G>T	X.37:g.92927456C>A	ENSP00000362171:p.Arg283Ile					FAM133A_uc004efr.1_5'Flank	p.R283I	NM_004538	NP_004529	Q99457	NP1L3_HUMAN			1	1153	-			283					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.848G>T	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437472	0.25900	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.32988	1.43	3.2	3.2	0.36748	.	0.000000	0.38663	N	0.001617	T	0.36936	0.0985	L	0.40543	1.245	0.46078	D	0.998852	D	0.65815	0.995	D	0.66351	0.943	T	0.09552	-1.0669	10	0.36615	T	0.2	.	5.5677	0.17180	0.0:0.8485:0.0:0.1515	.	283	Q99457	NP1L3_HUMAN	I	283;276	ENSP00000362171:R283I	ENSP00000362171:R283I	R	-	2	0	NAP1L3	92814112	0.984000	0.35163	0.729000	0.30791	0.751000	0.42716	1.346000	0.33964	1.863000	0.54032	0.529000	0.55759	AGA		PASS	0.453	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		107	129	107	129	---	---	---	---
CENPI	2491	broad.mit.edu	37	X	100402956	100402956	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:100402956A>T	ENST00000372927.1	+	19	2177	c.1900A>T	c.(1900-1902)Agc>Tgc	p.S634C	CENPI_ENST00000218507.5_Missense_Mutation_p.S634C|CENPI_ENST00000423383.1_Missense_Mutation_p.S634C	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	634					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.S634C(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						CAATTTCAGCAGCAAGACTTA	0.358																																						uc004egx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1900-1902)AGC>TGC		centromere protein I							102.0	106.0	105.0					X																	100402956		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100402956A>T	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1900A>T	X.37:g.100402956A>T	ENSP00000362018:p.Ser634Cys					CENPI_uc011mrg.1_Missense_Mutation_p.S634C	p.S634C	NM_006733	NP_006724	Q92674	CENPI_HUMAN			19	2170	+			634					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.1900A>T	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.253500	0.59212	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372927	.	.	.	4.85	4.85	0.62838	.	0.232574	0.51477	D	0.000083	T	0.52008	0.1708	L	0.59436	1.845	0.35813	D	0.824027	D;D	0.58620	0.983;0.97	P;P	0.45913	0.497;0.497	T	0.67181	-0.5735	9	0.72032	D	0.01	-0.6026	10.368	0.44035	0.9165:0.0:0.0835:0.0	.	634;634	B4DZL4;Q92674	.;CENPI_HUMAN	C	634	.	ENSP00000218507:S634C	S	+	1	0	CENPI	100289612	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	2.971000	0.49248	1.855000	0.53841	0.339000	0.21740	AGC		PASS	0.358	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		89	133	89	133	---	---	---	---
MUM1L1	139221	broad.mit.edu	37	X	105449901	105449901	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:105449901A>T	ENST00000357175.2	+	4	1125	c.476A>T	c.(475-477)gAg>gTg	p.E159V	MUM1L1_ENST00000337685.2_Missense_Mutation_p.E159V|MUM1L1_ENST00000372552.1_Missense_Mutation_p.E159V	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	159						extracellular vesicular exosome (GO:0070062)		p.E159V(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCATCTTCAGAGAGTGATGAT	0.428																																						uc004emf.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(475-477)GAG>GTG		melanoma associated antigen (mutated) 1-like 1							67.0	55.0	59.0					X																	105449901		1925	4110	6035	SO:0001583	missense	139221							g.chrX:105449901A>T	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.476A>T	X.37:g.105449901A>T	ENSP00000349699:p.Glu159Val					MUM1L1_uc004emg.1_Missense_Mutation_p.E159V	p.E159V	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN			4	1125	+			159					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.476A>T	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384168	0.61845	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.25749	1.78;1.78;1.78	4.96	4.96	0.65561	.	0.577808	0.15282	N	0.270631	T	0.43634	0.1256	M	0.64997	1.995	0.34191	D	0.672045	D	0.61080	0.989	D	0.64877	0.93	T	0.52895	-0.8514	10	0.34782	T	0.22	-34.8751	10.3197	0.43758	1.0:0.0:0.0:0.0	.	159	Q5H9M0	MUML1_HUMAN	V	159	ENSP00000349699:E159V;ENSP00000338641:E159V;ENSP00000361632:E159V	ENSP00000338641:E159V	E	+	2	0	MUM1L1	105336557	1.000000	0.71417	0.858000	0.33744	0.679000	0.39708	2.512000	0.45485	1.899000	0.54978	0.486000	0.48141	GAG		PASS	0.428	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		20	47	20	47	---	---	---	---
VSIG1	340547	broad.mit.edu	37	X	107316490	107316490	+	Silent	SNP	C	C	A	rs370374581		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:107316490C>A	ENST00000217957.5	+	5	696	c.579C>A	c.(577-579)acC>acA	p.T193T	VSIG1_ENST00000415430.3_Silent_p.T229T|VSIG1_ENST00000485533.1_3'UTR	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	193	Ig-like C2-type 2.					integral component of membrane (GO:0016021)		p.T229T(2)|p.T193T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						ACCCAACCACCGGGATTTTGG	0.428																																						uc004eno.2																			3	Substitution - coding silent(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(577-579)ACC>ACA		V-set and immunoglobulin domain containing 1							194.0	183.0	187.0					X																	107316490		2203	4300	6503	SO:0001819	synonymous_variant	340547					integral to membrane		g.chrX:107316490C>A	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.579C>A	X.37:g.107316490C>A						VSIG1_uc011msk.1_Silent_p.T229T	p.T193T	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN			5	740	+			193			Extracellular (Potential).|Ig-like C2-type 2.		C9J4P2|Q6MZS4	Silent	SNP	ENST00000217957.5	37	c.579C>A	CCDS14535.1																																																																																				PASS	0.428	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		146	377	146	377	---	---	---	---
LONRF3	79836	broad.mit.edu	37	X	118124510	118124510	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:118124510G>A	ENST00000371628.3	+	5	1433	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.A427T|LONRF3_ENST00000422289.2_Missense_Mutation_p.A212T	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	468							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.A468T(1)|p.A427T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CCTTGAATGCGCTCTATGTAT	0.468																																						uc004eqw.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(1402-1404)GCT>ACT		LON peptidase N-terminal domain and ring finger							310.0	194.0	233.0					X																	118124510		2203	4300	6503	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118124510G>A	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1402G>A	X.37:g.118124510G>A	ENSP00000360690:p.Ala468Thr					LONRF3_uc004eqx.2_Missense_Mutation_p.A427T|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.A212T	p.A468T	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN			5	1433	+			468			RING-type 2.		Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.1402G>A	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.986|8.986	0.976562|0.976562	0.18736|0.18736	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	T;T;T;T|.	0.17854|.	2.25;2.25;2.25;2.25|.	5.3|5.3	-5.59|-5.59	0.02505|0.02505	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);|.	0.351869|.	0.29791|.	N|.	0.011184|.	T|T	0.31670|0.31670	0.0804|0.0804	L|L	0.38649|0.38649	1.16|1.16	0.09310|0.09310	N|N	1|1	P;B;B|.	0.38677|.	0.642;0.068;0.069|.	B;B;B|.	0.37239|.	0.244;0.044;0.074|.	T|T	0.37502|0.37502	-0.9703|-0.9703	10|5	0.22109|.	T|.	0.4|.	-8.8695|-8.8695	9.621|9.621	0.39721|0.39721	0.0:0.1402:0.5615:0.2983|0.0:0.1402:0.5615:0.2983	.|.	212;427;468|.	B3KUN7;Q496Y0-2;Q496Y0|.	.;.;LONF3_HUMAN|.	T|H	427;427;468;212|233	ENSP00000360691:A427T;ENSP00000307732:A427T;ENSP00000360690:A468T;ENSP00000408894:A212T|.	ENSP00000307732:A427T|.	A|R	+|+	1|2	0|0	LONRF3|LONRF3	118008538|118008538	0.511000|0.511000	0.26179|0.26179	0.004000|0.004000	0.12327|0.12327	0.150000|0.150000	0.21749|0.21749	0.373000|0.373000	0.20484|0.20484	-1.134000|-1.134000	0.02899|0.02899	-1.144000|-1.144000	0.01866|0.01866	GCT|CGC		PASS	0.468	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		86	115	86	115	---	---	---	---
KIAA1210	57481	broad.mit.edu	37	X	118222607	118222607	+	Silent	SNP	A	A	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:118222607A>C	ENST00000402510.2	-	11	2585	c.2586T>G	c.(2584-2586)acT>acG	p.T862T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	862								p.T862T(1)|p.T686T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AATCATCAGAAGTGTTGTACT	0.498																																						uc004era.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(1)	5						c.(2584-2586)ACT>ACG		hypothetical protein LOC57481							57.0	52.0	54.0					X																	118222607		1934	4114	6048	SO:0001819	synonymous_variant	57481							g.chrX:118222607A>C	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2586T>G	X.37:g.118222607A>C							p.T862T	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	2586	-			862					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.2586T>G	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	A	2.943	-0.218484	0.06101	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.43	0.64	0.17752	.	.	.	.	.	T	0.23133	0.0559	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23904	-1.0175	4	.	.	.	.	3.2418	0.06783	0.5612:0.2098:0.229:0.0	.	.	.	.	V	269	.	.	F	-	1	0	KIAA1210	118106635	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.379000	0.20585	0.001000	0.14605	-0.314000	0.08810	TTC		PASS	0.498	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		24	45	24	45	---	---	---	---
SEPT6	23157	broad.mit.edu	37	X	118763348	118763348	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:118763348G>T	ENST00000343984.5	-	9	1477	c.1213C>A	c.(1213-1215)Ctg>Atg	p.L405M	SEPT6_ENST00000394610.1_Missense_Mutation_p.L405M|SEPT6_ENST00000360156.7_Missense_Mutation_p.L405M|SEPT6_ENST00000489216.1_Missense_Mutation_p.L405M|SEPT6_ENST00000354416.3_Missense_Mutation_p.L405M|SEPT6_ENST00000394616.4_Missense_Mutation_p.L347M|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000354228.4_Missense_Mutation_p.L405M|SEPT6_ENST00000394617.2_Missense_Mutation_p.L435M	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	405					cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)	p.L405M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GACTGGAGCAGCTCAGCCGCC	0.512			T	MLL	AML																																	uc004erv.2				Dom	yes		X	Xq24	23157		septin 6			L					1	Substitution - Missense(1)		lung(1)	lung(1)|ovary(1)|prostate(1)|kidney(1)	4						c.(1213-1215)CTG>ATG		septin 6 isoform B							126.0	123.0	124.0					X																	118763348		2203	4300	6503	SO:0001583	missense	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118763348G>T	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.1213C>A	X.37:g.118763348G>T	ENSP00000341524:p.Leu405Met					SEPT6_uc010nqk.2_RNA|SEPT6_uc004ers.2_Missense_Mutation_p.L405M|SEPT6_uc004ert.2_Missense_Mutation_p.L405M|SEPT6_uc004eru.2_Missense_Mutation_p.L405M|SEPT6_uc004erw.2_Missense_Mutation_p.L347M|SEPT6_uc011mtv.1_Missense_Mutation_p.L347M|SEPT6_uc011mtw.1_Missense_Mutation_p.L435M	p.L405M	NM_015129	NP_055944	Q14141	SEPT6_HUMAN			9	1478	-			405			Potential.		Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	c.1213C>A	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083139	0.55861	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617	D;D;D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.41	5.41	0.78517	.	0.067420	0.64402	D	0.000012	D	0.85978	0.5823	L	0.49350	1.555	0.52501	D	0.999959	D;D;D;B	0.89917	1.0;0.985;0.999;0.228	D;P;D;B	0.91635	0.999;0.713;0.997;0.133	D	0.83835	0.0254	10	0.30854	T	0.27	.	7.1422	0.25562	0.1972:0.0:0.8028:0.0	.	435;347;405;405	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	M	405;405;405;405;405;405;347;435	ENSP00000353278:L405M;ENSP00000346169:L405M;ENSP00000418715:L405M;ENSP00000346397:L405M;ENSP00000378108:L405M;ENSP00000341524:L405M;ENSP00000378114:L347M;ENSP00000378115:L435M	ENSP00000341524:L405M	L	-	1	2	SEPT6	118647376	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	3.251000	0.51453	2.259000	0.74868	0.600000	0.82982	CTG		PASS	0.512	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		115	134	115	134	---	---	---	---
ENOX2	10495	broad.mit.edu	37	X	129837178	129837178	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:129837178T>C	ENST00000370927.1	-	2	121	c.100A>G	c.(100-102)Atg>Gtg	p.M34V	ENOX2_ENST00000370935.1_Missense_Mutation_p.M5V|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000394363.1_Missense_Mutation_p.M5V|ENOX2_ENST00000338144.3_Missense_Mutation_p.M34V			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	34					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)	p.M34V(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GGATCAGACATAGGTAGTGTC	0.403																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(100-102)ATG>GTG		ecto-NOX disulfide-thiol exchanger 2 isoform b							149.0	119.0	129.0					X																	129837178		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129837178T>C	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.100A>G	X.37:g.129837178T>C	ENSP00000359965:p.Met34Val					ENOX2_uc004evx.2_Missense_Mutation_p.M5V|ENOX2_uc004evy.2_Missense_Mutation_p.M5V	p.M34V	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			5	518	-			34					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.100A>G	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	T	1.284	-0.609449	0.03690	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	.	.	.	5.01	3.85	0.44370	.	0.047609	0.85682	N	0.000000	T	0.12646	0.0307	N	0.02539	-0.55	0.28189	N	0.927825	B	0.02656	0.0	B	0.04013	0.001	T	0.20505	-1.0273	8	.	.	.	-8.4208	6.1329	0.20215	0.0:0.1165:0.0:0.8835	.	34	Q16206	ENOX2_HUMAN	V	5;5;34;5;62;34;5	.	.	M	-	1	0	ENOX2	129664859	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.074000	0.50065	0.842000	0.35045	0.486000	0.48141	ATG		PASS	0.403	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		57	164	57	164	---	---	---	---
ARHGAP36	158763	broad.mit.edu	37	X	130218282	130218282	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:130218282C>A	ENST00000276211.5	+	5	994	c.649C>A	c.(649-651)Caa>Aaa	p.Q217K	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.Q205K|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.Q81K	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	217					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.Q217K(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TCCAATTGGCCAACGACTTCT	0.498																																						uc004evz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(649-651)CAA>AAA		hypothetical protein LOC158763 precursor							45.0	44.0	44.0					X																	130218282		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130218282C>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.649C>A	X.37:g.130218282C>A	ENSP00000276211:p.Gln217Lys					ARHGAP36_uc004ewa.2_Missense_Mutation_p.Q205K|ARHGAP36_uc004ewb.2_Missense_Mutation_p.Q186K|ARHGAP36_uc004ewc.2_Missense_Mutation_p.Q81K	p.Q217K	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			5	994	+			217					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.649C>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.994250	0.00435	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432;ENST00000370921	T;T;T;T	0.09350	3.03;3.03;3.04;2.99	4.99	3.08	0.35506	Rho GTPase activation protein (1);	0.329025	0.22473	N	0.059595	T	0.04407	0.0121	N	0.08118	0	0.19300	N	0.999973	B;B;B	0.17268	0.021;0.021;0.012	B;B;B	0.17979	0.02;0.02;0.009	T	0.42832	-0.9428	10	0.06099	T	0.92	.	8.8878	0.35414	0.4058:0.5942:0.0:0.0	.	186;205;217	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	K	217;205;169;186;81	ENSP00000276211:Q217K;ENSP00000359960:Q205K;ENSP00000408515:Q186K;ENSP00000359959:Q81K	ENSP00000276211:Q217K	Q	+	1	0	ARHGAP36	130045963	0.001000	0.12720	0.941000	0.38009	0.013000	0.08279	0.501000	0.22578	1.205000	0.43262	-0.351000	0.07748	CAA		PASS	0.498	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		28	69	28	69	---	---	---	---
ZNF75D	7626	broad.mit.edu	37	X	134427658	134427658	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:134427658C>T	ENST00000370766.3	-	3	3118	c.409G>A	c.(409-411)Gag>Aag	p.E137K	ZNF75D_ENST00000370764.1_Missense_Mutation_p.E137K|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	137					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E137K(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTTCTTACCTCATTCTTTGTT	0.438																																						uc004eyp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)GAG>AAG		zinc finger protein 75							89.0	90.0	89.0					X																	134427658		2203	4300	6503	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134427658C>T	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.409G>A	X.37:g.134427658C>T	ENSP00000359802:p.Glu137Lys					ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'Flank|ZNF75D_uc004eyo.2_Missense_Mutation_p.E137K	p.E137K	NM_007131	NP_009062	P51815	ZN75D_HUMAN			3	3064	-			137					A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.409G>A	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492918	0.26774	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.04234	3.67;5.72	2.98	2.12	0.27331	Transcription regulator SCAN (2);	.	.	.	.	T	0.04363	0.0120	L	0.29908	0.895	0.09310	N	1	B;B	0.17852	0.013;0.024	B;B	0.17098	0.014;0.017	T	0.38023	-0.9680	9	0.48119	T	0.1	.	7.5806	0.27963	0.0:0.8611:0.0:0.1389	.	137;137	P51815;A6NK62	ZN75D_HUMAN;.	K	137	ENSP00000359802:E137K;ENSP00000359800:E137K	ENSP00000359800:E137K	E	-	1	0	ZNF75D	134255324	0.956000	0.32656	0.023000	0.16930	0.109000	0.19521	0.201000	0.17276	0.670000	0.31165	0.509000	0.49947	GAG		PASS	0.438	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		110	94	110	94	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149638838	149638838	+	Silent	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:149638838G>T	ENST00000370401.2	+	4	1303	c.993G>T	c.(991-993)ctG>ctT	p.L331L	MAMLD1_ENST00000262858.5_Silent_p.L331L|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000432680.2_Silent_p.L306L|MAMLD1_ENST00000426613.2_Silent_p.L306L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	331					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L331L(1)|p.L306L(1)|p.L258L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCTGGTCTGCCTCCTCCAG	0.652																																						uc004fee.1																			3	Substitution - coding silent(3)		lung(3)		0						c.(991-993)CTG>CTT		mastermind-like domain containing 1							105.0	63.0	77.0					X																	149638838		2203	4300	6503	SO:0001819	synonymous_variant	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149638838G>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.993G>T	X.37:g.149638838G>T						MAMLD1_uc011mxt.1_Silent_p.L293L|MAMLD1_uc011mxu.1_Silent_p.L306L|MAMLD1_uc011mxv.1_Silent_p.L306L|MAMLD1_uc011mxw.1_Silent_p.L258L	p.L331L	NM_005491	NP_005482	Q13495	MAMD1_HUMAN			3	1069	+	Acute lymphoblastic leukemia(192;6.56e-05)		331					B2RCQ4|B4DG93|B9EGA5	Silent	SNP	ENST00000370401.2	37	c.993G>T	CCDS14693.2																																																																																				PASS	0.652	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		30	66	30	66	---	---	---	---
MTMR1	8776	broad.mit.edu	37	X	149895709	149895709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:149895709C>A	ENST00000370390.3	+	4	508	c.351C>A	c.(349-351)tgC>tgA	p.C117*	MTMR1_ENST00000542156.1_Nonsense_Mutation_p.C117*|MTMR1_ENST00000538506.1_Nonsense_Mutation_p.C4*|MTMR1_ENST00000544228.1_Nonsense_Mutation_p.C117*|MTMR1_ENST00000541925.1_Nonsense_Mutation_p.C23*|MTMR1_ENST00000445323.2_Nonsense_Mutation_p.C125*|MTMR1_ENST00000451863.2_Nonsense_Mutation_p.C117*	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	117	GRAM.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.P118fs*6(1)|p.C117*(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGTATATCTGCCCATTTATGG	0.383																																						uc004fei.2																			2	Substitution - Nonsense(1)|Deletion - Frameshift(1)		lung(2)	ovary(1)	1						c.(349-351)TGC>TGA		myotubularin-related protein 1							152.0	126.0	135.0					X																	149895709		2203	4300	6503	SO:0001587	stop_gained	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149895709C>A	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.351C>A	X.37:g.149895709C>A	ENSP00000359417:p.Cys117*					MTMR1_uc011mya.1_Nonsense_Mutation_p.C23*|MTMR1_uc004feg.1_Nonsense_Mutation_p.C117*|MTMR1_uc004feh.1_Nonsense_Mutation_p.C125*|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_RNA	p.C117*	NM_003828	NP_003819	Q13613	MTMR1_HUMAN			4	486	+	Acute lymphoblastic leukemia(192;6.56e-05)		117			GRAM.		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Nonsense_Mutation	SNP	ENST00000370390.3	37	c.351C>A	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	c	35	5.567500	0.96540	.	.	ENSG00000063601	ENST00000541925;ENST00000493995;ENST00000439546;ENST00000429965;ENST00000434699;ENST00000542156;ENST00000370390;ENST00000490316;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000438018;ENST00000436701;ENST00000538506	.	.	.	5.44	-0.298	0.12814	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	10.1583	0.42836	0.0:0.3562:0.0:0.6438	.	.	.	.	X	23;23;23;23;23;117;117;134;125;117;117;81;98;4	.	ENSP00000359417:C117X	C	+	3	2	MTMR1	149646367	1.000000	0.71417	0.872000	0.34217	0.760000	0.43138	1.175000	0.31944	-0.342000	0.08363	-2.104000	0.00359	TGC		PASS	0.383	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		61	87	61	87	---	---	---	---
GABRQ	55879	broad.mit.edu	37	X	151821678	151821678	+	Silent	SNP	C	C	A			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:151821678C>A	ENST00000370306.2	+	9	1853	c.1833C>A	c.(1831-1833)tcC>tcA	p.S611S		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	611					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.S611S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|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)	ACAAGTGGTCCCGGTTCCTCT	0.527																																						uc004ffp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1831-1833)TCC>TCA		gamma-aminobutyric acid (GABA) receptor, theta							84.0	82.0	83.0					X																	151821678		2203	4300	6503	SO:0001819	synonymous_variant	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151821678C>A	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1833C>A	X.37:g.151821678C>A							p.S611S	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			9	1853	+	Acute lymphoblastic leukemia(192;6.56e-05)		611					A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	ENST00000370306.2	37	c.1833C>A	CCDS14707.1																																																																																				PASS	0.527	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		116	128	116	128	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153577267	153577267	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:153577267A>T	ENST00000369850.3	-	48	8130	c.7894T>A	c.(7894-7896)Tgg>Agg	p.W2632R	FLNA_ENST00000360319.4_Missense_Mutation_p.W2624R|FLNA_ENST00000422373.1_Missense_Mutation_p.W2624R|FLNA_ENST00000344736.4_Missense_Mutation_p.W2592R|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000369856.3_Missense_Mutation_p.W765R	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2632	Self-association site, tail.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.W2632R(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCGTCCCCCCATTTGACCACC	0.667																																						uc004fkk.2																			1	Substitution - Missense(1)		lung(1)	breast(6)	6						c.(7894-7896)TGG>AGG		filamin A, alpha isoform 2							86.0	93.0	91.0					X																	153577267		2126	4200	6326	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153577267A>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.7894T>A	X.37:g.153577267A>T	ENSP00000358866:p.Trp2632Arg					FLNA_uc004fki.2_Missense_Mutation_p.W672R|FLNA_uc011mzn.1_Missense_Mutation_p.W765R|FLNA_uc010nuu.1_Missense_Mutation_p.W2624R	p.W2632R	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			48	8143	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2632			Self-association site, tail.|Filamin 24.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.7894T>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.438514	0.83885	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.74	5.74	0.90152	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94262	0.8157	M	0.93462	3.42	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.87578	0.996;0.997;0.998;0.998	D	0.95554	0.8623	10	0.87932	D	0	.	15.0617	0.71961	1.0:0.0:0.0:0.0	.	765;2624;2632;2632	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	R	2624;2300;2624;2632;765;2592	ENSP00000353467:W2624R;ENSP00000416926:W2624R;ENSP00000358866:W2632R;ENSP00000358872:W765R;ENSP00000358863:W2592R	ENSP00000358863:W2592R	W	-	1	0	FLNA	153230461	1.000000	0.71417	0.999000	0.59377	0.714000	0.41099	9.323000	0.96364	1.940000	0.56252	0.430000	0.28490	TGG		PASS	0.667	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			50	60	50	60	---	---	---	---
MPP1	4354	broad.mit.edu	37	X	154009998	154009998	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chrX:154009998G>T	ENST00000369534.3	-	10	1173	c.1026C>A	c.(1024-1026)aaC>aaA	p.N342K	MPP1_ENST00000462825.1_5'Flank|MPP1_ENST00000393531.1_Missense_Mutation_p.N322K|MPP1_ENST00000413259.3_Missense_Mutation_p.N312K	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	342	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.|Interaction with MPP5.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.N342K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGCAGAGATGTTCCTCGTCA	0.468																																						uc004fmp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1024-1026)AAC>AAA		palmitoylated membrane protein 1							344.0	252.0	283.0					X																	154009998		2203	4300	6503	SO:0001583	missense	4354				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	g.chrX:154009998G>T		CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.1026C>A	X.37:g.154009998G>T	ENSP00000358547:p.Asn342Lys					MPP1_uc010nvg.1_Missense_Mutation_p.N322K|MPP1_uc011mzv.1_Missense_Mutation_p.N312K|MPP1_uc004fmq.1_Missense_Mutation_p.N296K|MPP1_uc011mzw.1_Missense_Mutation_p.N325K	p.N342K	NM_002436	NP_002427	Q00013	EM55_HUMAN			10	1141	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		342			Guanylate kinase-like.|Interaction with MPP5.		B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	c.1026C>A	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437339	0.25900	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531	T;T;T	0.16073	2.37;2.37;2.37	5.39	1.1	0.20463	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.529823	0.23165	N	0.051188	T	0.07098	0.0180	N	0.03983	-0.305	0.26087	N	0.981013	P;B;B;B	0.44139	0.827;0.38;0.119;0.145	B;B;B;B	0.40659	0.336;0.286;0.107;0.286	T	0.21930	-1.0231	10	0.66056	D	0.02	.	7.402	0.26969	0.1685:0.0:0.6944:0.1371	.	325;312;322;342	B4E325;B4DZV5;G3XAI1;Q00013	.;.;.;EM55_HUMAN	K	342;312;322	ENSP00000358547:N342K;ENSP00000400155:N312K;ENSP00000377165:N322K	ENSP00000358547:N342K	N	-	3	2	MPP1	153663192	1.000000	0.71417	0.239000	0.24122	0.336000	0.28762	3.135000	0.50546	0.132000	0.18615	0.594000	0.82650	AAC		PASS	0.468	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		166	207	166	207	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43190552	43190552	+	Frame_Shift_Del	DEL	C	C	-			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr6:43190552delC	ENST00000252050.4	+	38	7152	c.7068delC	c.(7066-7068)agcfs	p.S2356fs	CUL9_ENST00000354495.3_Frame_Shift_Del_p.S2246fs|CUL9_ENST00000372647.2_Frame_Shift_Del_p.S2328fs|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2356					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCTTCTACAGCCAGGACGCAG	0.627																																						uc003ouk.2																			0				ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(7066-7068)AGCfs		p53-associated parkin-like cytoplasmic protein							80.0	83.0	82.0					6																	43190552		2203	4300	6503	SO:0001589	frameshift_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43190552delC	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.7068delC	6.37:g.43190552delC	ENSP00000252050:p.Ser2356fs					CUL9_uc003oul.2_Frame_Shift_Del_p.S2328fs|CUL9_uc010jyk.2_Frame_Shift_Del_p.S1508fs|CUL9_uc003oun.2_Frame_Shift_Del_p.S151fs	p.S2356fs	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			38	7143	+			2356					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Frame_Shift_Del	DEL	ENST00000252050.4	37	c.7068delC	CCDS4890.1																																																																																					0.627	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		106	52	106	52	---	---	---	---
LCN15	389812	broad.mit.edu	37	9	139651601	139651602	+	IGR	INS	-	-	C			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr9:139651601_139651602insC	ENST00000316144.5	-	0	762				LCN8_ENST00000482893.1_5'UTR|LCN15_ENST00000482511.1_5'Flank|LCN8_ENST00000371688.3_Frame_Shift_Ins_p.E15fs	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15						lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						CACACCGACTTCCCTCCAGAAT	0.624																																						uc004cjb.1																			0				pancreas(1)	1						c.(43-45)GAAfs		lipocalin 8																																				SO:0001628	intergenic_variant	138307				transport	extracellular region	binding	g.chr9:139651601_139651602insC		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"""Lipocalins"""	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943		9.37:g.139651604_139651604dupC						LCN8_uc004cja.2_5'Flank|LCN8_uc004cjc.1_Frame_Shift_Ins_p.E15fs	p.E15fs	NM_178469	NP_848564	Q6JVE9	LCN8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)	2	392_393	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	38						Frame_Shift_Ins	INS	ENST00000316144.5	37	c.43_44insG	CCDS7006.1																																																																																					0.624	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2	NM_203347		13	17	13	17	---	---	---	---
OR4D6	219983	broad.mit.edu	37	11	59225269	59225269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr11:59225269delC	ENST00000300127.2	+	1	859	c.836delC	c.(835-837)accfs	p.T279fs		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ACGGTCATTACCCCCATGCTG	0.502																																						uc010rku.1																			0				ovary(1)	1						c.(835-837)ACCfs		olfactory receptor, family 4, subfamily D,							127.0	126.0	126.0					11																	59225269		2201	4295	6496	SO:0001589	frameshift_variant	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59225269delC	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.836delC	11.37:g.59225269delC	ENSP00000300127:p.Thr279fs						p.T279fs	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	836	+			279			Helical; Name=7; (Potential).		B2RNP7|Q6IFF5|Q96R74	Frame_Shift_Del	DEL	ENST00000300127.2	37	c.836delC	CCDS31562.1																																																																																					0.502	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		252	112	252	112	---	---	---	---
NEURL4	84461	broad.mit.edu	37	17	7231109	7231109	+	Frame_Shift_Del	DEL	C	C	-			TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr17:7231109delC	ENST00000399464.2	-	2	392	c.377delG	c.(376-378)ggcfs	p.G126fs	NEURL4_ENST00000315614.7_Frame_Shift_Del_p.G126fs|NEURL4_ENST00000570460.1_Frame_Shift_Del_p.G126fs	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	126	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TACCCACGAGCCCCCCTTCAG	0.622																																						uc002gga.1																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(376-378)GGCfs		neuralized homolog 4 isoform 1							39.0	46.0	44.0					17																	7231109		2086	4226	6312	SO:0001589	frameshift_variant	84461						protein binding	g.chr17:7231109delC		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.377delG	17.37:g.7231109delC	ENSP00000382390:p.Gly126fs					NEURL4_uc002ggb.1_Frame_Shift_Del_p.G126fs|NEURL4_uc002ggc.1_5'Flank	p.G126fs	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN			2	384	-			126			NHR 1.		Q6GPI8|Q96IU9|Q9H0B0	Frame_Shift_Del	DEL	ENST00000399464.2	37	c.377delG	CCDS42251.1																																																																																					0.622	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		26	50	26	50	---	---	---	---
CBX4	8535	broad.mit.edu	37	17	77808241	77808249	+	In_Frame_Del	DEL	GTGGTGGTG	GTGGTGGTG	-	rs3833850		TCGA-60-2719-01A-01D-1522-08	TCGA-60-2719-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259	7efd4b88-beed-4e5e-b434-2bc0103084e6	g.chr17:77808241_77808249delGTGGTGGTG	ENST00000269397.4	-	5	1369_1377	c.1192_1200delCACCACCAC	c.(1192-1200)caccaccacdel	p.HHH398del		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	398	His-rich.|Interaction with BMI1.|Poly-His.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCGACGGCgtggtggtggtggtggtgg	0.703																																						uc002jxe.2																			0				skin(2)	2						c.(1192-1200)CACCACCACdel		chromobox homolog 4																																				SO:0001651	inframe_deletion	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808241_77808249delGTGGTGGTG	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1192_1200delCACCACCAC	17.37:g.77808250_77808258delGTGGTGGTG	ENSP00000269397:p.His398_His400del						p.HHH398del	NM_003655	NP_003646	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1355_1363	-			398_400			His-rich.|Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	In_Frame_Del	DEL	ENST00000269397.4	37	c.1192_1200delCACCACCAC	CCDS32758.1																																																																																					0.703	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		13	6	13	6	---	---	---	---
