#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_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
TMCO4	255104	broad.mit.edu	37	1	20107156	20107156	+	Silent	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:20107156C>T	ENST00000294543.6	-	4	337	c.96G>A	c.(94-96)cgG>cgA	p.R32R	TMCO4_ENST00000375127.1_Silent_p.R32R|TMCO4_ENST00000375122.2_Silent_p.R32R	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	32						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CAGTCAGCTCCCGGCCCGTGG	0.612																																						uc001bcn.2																			0					0						c.(94-96)CGG>CGA		transmembrane and coiled-coil domains 4							48.0	49.0	49.0					1																	20107156		2203	4300	6503	SO:0001819	synonymous_variant	255104					integral to membrane		g.chr1:20107156C>T		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.96G>A	1.37:g.20107156C>T						TMCO4_uc001bcm.2_Silent_p.R32R|TMCO4_uc001bco.1_Silent_p.R32R|TMCO4_uc001bcp.1_Silent_p.R32R|TMCO4_uc009vpn.1_Silent_p.R32R|TMCO4_uc001bcq.1_Silent_p.R32R	p.R32R	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	4	338	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	32					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Silent	SNP	ENST00000294543.6	37	c.96G>A	CCDS198.1																																																																																				0.612	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719	
ARID1A	8289	broad.mit.edu	37	1	27101098	27101098	+	Silent	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:27101098C>T	ENST00000324856.7	+	18	4751	c.4380C>T	c.(4378-4380)ggC>ggT	p.G1460G	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Silent_p.G1077G|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1460					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCAGTTTGGCCGAGACCGTG	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(4378-4380)GGC>GGT		AT rich interactive domain 1A isoform a							69.0	73.0	71.0					1																	27101098		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101098C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4380C>T	1.37:g.27101098C>T						ARID1A_uc001bmt.1_Silent_p.G1459G|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Silent_p.G1077G|ARID1A_uc001bmx.1_Silent_p.G306G|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	p.G1460G	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	4753	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1460					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.4380C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	6.392	0.440456	0.12104	.	.	ENSG00000117713	ENST00000430799	.	.	.	5.54	4.62	0.57501	.	.	.	.	.	T	0.62998	0.2474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61720	-0.7005	4	.	.	.	-10.3623	11.4825	0.50333	0.1412:0.7231:0.1357:0.0	.	.	.	.	S	357	.	.	P	+	1	0	ARID1A	26973685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.537000	0.36083	1.558000	0.49541	0.650000	0.86243	CCG		0.582	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
GNL2	29889	broad.mit.edu	37	1	38049466	38049466	+	Splice_Site	DEL	A	A	-			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:38049466delA	ENST00000373062.3	-	6	735		c.e6+1			NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)						GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TAGGAGTCTTACCTTGTAGAG	0.383																																						uc001cbk.2																			0				ovary(1)|central_nervous_system(1)	2						c.e6+1		guanine nucleotide binding protein-like 2							182.0	164.0	170.0					1																	38049466		2203	4300	6503	SO:0001630	splice_region_variant	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38049466delA	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.636+1T>-	1.37:g.38049466delA						GNL2_uc010oif.1_Splice_Site_p.K53_splice|GNL2_uc009vve.2_3'UTR	p.K212_splice	NM_013285	NP_037417	Q13823	NOG2_HUMAN			6	799	-		Myeloproliferative disorder(586;0.0393)						Q9BWN7	Splice_Site	DEL	ENST00000373062.3	37	c.636_splice	CCDS421.1																																																																																				0.383	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285	Intron
ISG20L2	81875	broad.mit.edu	37	1	156697400	156697400	+	Silent	SNP	G	G	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:156697400G>C	ENST00000313146.6	-	1	827	c.45C>G	c.(43-45)ccC>ccG	p.P15P	ISG20L2_ENST00000472824.2_5'Flank|RRNAD1_ENST00000368218.4_5'Flank|RRNAD1_ENST00000524343.1_5'Flank|RRNAD1_ENST00000368216.4_5'Flank|ISG20L2_ENST00000368219.1_Silent_p.P15P	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	15					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGCCTTTTTGGGAGGAGGTT	0.458																																						uc001fps.1																			0				ovary(1)|central_nervous_system(1)	2						c.(43-45)CCC>CCG		interferon stimulated exonuclease gene							69.0	77.0	74.0					1																	156697400		2203	4300	6503	SO:0001819	synonymous_variant	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156697400G>C	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.45C>G	1.37:g.156697400G>C						ISG20L2_uc001fpt.1_Silent_p.P15P|C1orf66_uc001fpu.2_5'Flank|C1orf66_uc001fpv.2_5'Flank	p.P15P	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN			1	306	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		15					D3DVC6|Q64KA2	Silent	SNP	ENST00000313146.6	37	c.45C>G	CCDS1153.1																																																																																				0.458	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980	
NFASC	23114	broad.mit.edu	37	1	204943900	204943900	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:204943900G>A	ENST00000401399.1	+	13	1706	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	NFASC_ENST00000539706.1_Missense_Mutation_p.A514T|NFASC_ENST00000513543.1_Missense_Mutation_p.A514T|NFASC_ENST00000367169.4_Missense_Mutation_p.A503T|NFASC_ENST00000367170.4_Missense_Mutation_p.A503T|NFASC_ENST00000338586.6_Missense_Mutation_p.A503T|NFASC_ENST00000367171.4_Missense_Mutation_p.A503T|NFASC_ENST00000338515.6_Missense_Mutation_p.A503T|NFASC_ENST00000404907.1_Missense_Mutation_p.A514T|NFASC_ENST00000367172.4_Missense_Mutation_p.A503T|NFASC_ENST00000404076.1_Missense_Mutation_p.A497T|NFASC_ENST00000339876.6_Missense_Mutation_p.A503T|NFASC_ENST00000403080.1_Missense_Mutation_p.A503T|NFASC_ENST00000360049.4_Missense_Mutation_p.A514T			O94856	NFASC_HUMAN	neurofascin	503	Ig-like C2-type 5.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.A503T(2)|p.A514T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACCTGTGTCGCCACCAACAT	0.532																																						uc001hbj.2																			3	Substitution - Missense(3)		endometrium(3)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(1507-1509)GCC>ACC		neurofascin isoform 1 precursor							132.0	122.0	125.0					1																	204943900		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204943900G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1507G>A	1.37:g.204943900G>A	ENSP00000385637:p.Ala503Thr					NFASC_uc001hbh.2_Missense_Mutation_p.A503T|NFASC_uc010pqz.1_Missense_Mutation_p.A497T|NFASC_uc010pra.1_Missense_Mutation_p.A514T|NFASC_uc001hbi.2_Missense_Mutation_p.A514T|NFASC_uc010prb.1_Missense_Mutation_p.A514T|NFASC_uc010prc.1_Missense_Mutation_p.A70T|NFASC_uc001hbk.1_Missense_Mutation_p.A324T	p.A503T	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		14	1835	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		503			Extracellular (Potential).|Ig-like C2-type 5.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.1507G>A	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	G	36	5.878651	0.97055	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000069	D	0.91700	0.7376	M	0.93720	3.45	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.988;0.974;0.997;0.974;0.963;0.983	D	0.93077	0.6488	10	0.87932	D	0	.	19.7118	0.96099	0.0:0.0:1.0:0.0	.	503;514;514;503;503;514;503	O94856;O94856-11;O94856-8;F8W791;O94856-9;O94856-3;O94856-2	NFASC_HUMAN;.;.;.;.;.;.	T	503;503;503;503;503;503;514;514;514;503;503;497;503;514;514;490	ENSP00000356140:A503T;ENSP00000356139:A503T;ENSP00000356138:A503T;ENSP00000342128:A503T;ENSP00000344786:A503T;ENSP00000343509:A503T;ENSP00000438614:A514T;ENSP00000353154:A514T;ENSP00000356137:A503T;ENSP00000384875:A503T;ENSP00000385676:A497T;ENSP00000385637:A503T;ENSP00000384061:A514T;ENSP00000425908:A514T;ENSP00000415031:A490T	ENSP00000295776:A514T	A	+	1	0	NFASC	203210523	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.869000	0.99810	2.764000	0.94973	0.485000	0.47835	GCC		0.532	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	
OBSCN	84033	broad.mit.edu	37	1	228520994	228520994	+	Missense_Mutation	SNP	C	C	T	rs564170262		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:228520994C>T	ENST00000422127.1	+	58	15870	c.15826C>T	c.(15826-15828)Cgc>Tgc	p.R5276C	OBSCN_ENST00000366709.4_Missense_Mutation_p.R2395C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2910C|OBSCN_ENST00000570156.2_Missense_Mutation_p.R6233C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5276C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5276	Ig-like 50.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCTGGCACACGCCTGGCCAA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		17603	0.001		0.0	False		,,,				2504	0.0					uc009xez.1																			0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(15826-15828)CGC>TGC		obscurin, cytoskeletal calmodulin and							11.0	14.0	13.0					1																	228520994		1999	4132	6131	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.chr1:228520994C>T	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.15826C>T	1.37:g.228520994C>T	ENSP00000409493:p.Arg5276Cys					OBSCN_uc001hsn.2_Missense_Mutation_p.R5276C|OBSCN_uc001hsr.1_5'Flank	p.R5276C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			58	15870	+		Prostate(94;0.0405)	5276			Ig-like 50.		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.15826C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958704	0.92726	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.29	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.149514	0.43579	D	0.000550	T	0.60483	0.2272	M	0.74467	2.265	0.44366	D	0.99726	D;D	0.76494	0.999;0.998	P;P	0.60609	0.877;0.804	T	0.61535	-0.7043	10	0.51188	T	0.08	.	14.3599	0.66764	0.0:0.9273:0.0:0.0727	.	5276;5276	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	5276;5276;2910;2395	ENSP00000284548:R5276C;ENSP00000409493:R5276C;ENSP00000355668:R2910C;ENSP00000355670:R2395C	ENSP00000284548:R5276C	R	+	1	0	OBSCN	226587617	0.528000	0.26314	1.000000	0.80357	0.972000	0.66771	2.567000	0.45956	2.745000	0.94114	0.561000	0.74099	CGC		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OR2W5	441932	broad.mit.edu	37	1	247654765	247654765	+	RNA	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:247654765C>T	ENST00000522351.1	+	0	396							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCACCGAGTGCGTCCTCCTGG	0.602																																						uc001icz.1																			0				ovary(1)|breast(1)|skin(1)	3						c.(334-336)TGC>TGT		olfactory receptor, family 2, subfamily W,							101.0	94.0	96.0					1																	247654765		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654765C>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654765C>T							p.C112C	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	336	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	112			Helical; Name=3; (Potential).		B9EH85	Silent	SNP	ENST00000522351.1	37	c.336C>T																																																																																					0.602	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698	
ACTA2	59	broad.mit.edu	37	10	90699345	90699345	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr10:90699345C>T	ENST00000458208.1	-	7	1201	c.727G>A	c.(727-729)Gag>Aag	p.E243K	ACTA2_ENST00000480297.1_5'Flank|ACTA2_ENST00000224784.6_Missense_Mutation_p.E243K|ACTA2-AS1_ENST00000596007.1_RNA|STAMBPL1_ENST00000371927.3_Intron|ACTA2-AS1_ENST00000437930.4_RNA	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	243					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TCAGGCAACTCGTAACTCTTC	0.512																																						uc001kfp.2																			0					0						c.(727-729)GAG>AAG		alpha 2 actin							140.0	110.0	120.0					10																	90699345		2203	4300	6503	SO:0001583	missense	59				response to virus	cytosol	ATP binding	g.chr10:90699345C>T	X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.727G>A	10.37:g.90699345C>T	ENSP00000402373:p.Glu243Lys					STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.E198K|ACTA2_uc001kfq.2_Missense_Mutation_p.E243K|uc001kfo.1_RNA	p.E243K	NM_001613	NP_001604	P62736	ACTA_HUMAN		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	7	843	-		Colorectal(252;0.0161)	243					B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	ENST00000458208.1	37	c.727G>A	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479742	0.84747	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.95103	-3.61;-3.61	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.95297	0.8474	M	0.77820	2.39	0.80722	D	1	B	0.18968	0.032	B	0.31869	0.137	D	0.92242	0.5801	10	0.87932	D	0	.	19.2286	0.93827	0.0:1.0:0.0:0.0	.	243	P62736	ACTA_HUMAN	K	243;243;198	ENSP00000224784:E243K;ENSP00000402373:E243K	ENSP00000224784:E243K	E	-	1	0	ACTA2	90689325	1.000000	0.71417	0.989000	0.46669	0.916000	0.54674	7.818000	0.86416	2.890000	0.99128	0.655000	0.94253	GAG		0.512	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613	
OR51E2	81285	broad.mit.edu	37	11	4703067	4703067	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:4703067C>G	ENST00000396950.3	-	2	1114	c.875G>C	c.(874-876)gGt>gCt	p.G292A		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	292					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGTTTTGGCACCATAGATGAT	0.507																																						uc001lzk.2																			0				lung(3)|ovary(2)	5						c.(874-876)GGT>GCT		olfactory receptor, family 51, subfamily E,							162.0	129.0	140.0					11																	4703067		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703067C>G	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.875G>C	11.37:g.4703067C>G	ENSP00000380153:p.Gly292Ala						p.G292A	NM_030774	NP_110401	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	1119	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	292			Helical; Name=7; (Potential).		B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.875G>C	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269415	0.40095	.	.	ENSG00000167332	ENST00000396950	T	0.35236	1.32	5.18	3.2	0.36748	.	0.313431	0.23137	N	0.051507	T	0.33933	0.0880	L	0.43701	1.375	0.34504	D	0.706392	B	0.22276	0.067	B	0.24974	0.057	T	0.51395	-0.8711	10	0.62326	D	0.03	.	15.6117	0.76727	0.0:0.7236:0.2764:0.0	.	292	Q9H255	O51E2_HUMAN	A	292	ENSP00000380153:G292A	ENSP00000380153:G292A	G	-	2	0	OR51E2	4659643	0.046000	0.20272	0.976000	0.42696	0.938000	0.57974	2.987000	0.49378	1.389000	0.46526	0.655000	0.94253	GGT		0.507	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774	
OR5I1	10798	broad.mit.edu	37	11	55703533	55703533	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:55703533A>T	ENST00000301532.3	-	1	343	c.344T>A	c.(343-345)tTc>tAc	p.F115Y		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	115					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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGCCAGGATGAAGGATTCTGT	0.433																																						uc010ris.1																			0				ovary(1)	1						c.(343-345)TTC>TAC		olfactory receptor, family 5, subfamily I,							49.0	51.0	51.0					11																	55703533		2201	4292	6493	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703533A>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.344T>A	11.37:g.55703533A>T	ENSP00000301532:p.Phe115Tyr						p.F115Y	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	344	-			115			Helical; Name=3; (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.344T>A	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.732969	0.30684	.	.	ENSG00000167825	ENST00000301532	T	0.05649	3.41	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000183	T	0.15435	0.0372	L	0.48260	1.515	0.09310	N	1	D	0.63880	0.993	D	0.67548	0.952	T	0.13361	-1.0512	10	0.20046	T	0.44	.	12.8531	0.57869	1.0:0.0:0.0:0.0	.	115	Q13606	OR5I1_HUMAN	Y	115	ENSP00000301532:F115Y	ENSP00000301532:F115Y	F	-	2	0	OR5I1	55460109	0.000000	0.05858	0.260000	0.24451	0.050000	0.14768	0.270000	0.18607	1.970000	0.57323	0.519000	0.50382	TTC		0.433	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637	
AHNAK	79026	broad.mit.edu	37	11	62285595	62285595	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:62285595C>T	ENST00000378024.4	-	5	16568	c.16294G>A	c.(16294-16296)Gaa>Aaa	p.E5432K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5432					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCTTCAGTTCGCCAGAAACC	0.527																																						uc001ntl.2																			0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(16294-16296)GAA>AAA		AHNAK nucleoprotein isoform 1							74.0	75.0	75.0					11																	62285595		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62285595C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16294G>A	11.37:g.62285595C>T	ENSP00000367263:p.Glu5432Lys					AHNAK_uc001ntk.1_Intron	p.E5432K	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	16594	-		Melanoma(852;0.155)	5432					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.16294G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	9.414	1.081348	0.20309	.	.	ENSG00000124942	ENST00000378024	T	0.00932	5.53	4.69	4.69	0.59074	.	0.203842	0.23807	U	0.044368	T	0.02012	0.0063	N	0.17674	0.51	0.26697	N	0.971233	D	0.76494	0.999	P	0.61940	0.896	T	0.63152	-0.6701	10	0.19147	T	0.46	-13.7006	17.2349	0.86996	0.0:1.0:0.0:0.0	.	5432	Q09666	AHNK_HUMAN	K	5432	ENSP00000367263:E5432K	ENSP00000367263:E5432K	E	-	1	0	AHNAK	62042171	0.481000	0.25941	0.194000	0.23346	0.138000	0.21146	1.192000	0.32150	2.132000	0.65825	0.453000	0.30009	GAA		0.527	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
SLC22A9	114571	broad.mit.edu	37	11	63174115	63174115	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:63174115G>A	ENST00000279178.3	+	7	1469	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	407					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ATGAACCGTCGAGCAAGCCAG	0.483																																						uc001nww.2																			0				breast(2)|large_intestine(1)	3						c.(1219-1221)CGA>CAA		solute carrier family 22 (organic anion/cation							169.0	128.0	142.0					11																	63174115		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63174115G>A	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1220G>A	11.37:g.63174115G>A	ENSP00000279178:p.Arg407Gln					SLC22A9_uc001nwx.2_RNA	p.R407Q	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN			7	1488	+			407			Cytoplasmic (Potential).		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.1220G>A	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.232676	0.58777	.	.	ENSG00000149742	ENST00000279178	T	0.62788	-0.0	3.05	-1.29	0.09288	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.070621	0.64402	N	0.000017	T	0.71178	0.3309	M	0.79343	2.45	0.09310	N	1	D	0.65815	0.995	D	0.63793	0.918	T	0.63765	-0.6563	10	0.72032	D	0.01	.	7.4477	0.27221	0.5528:0.0:0.4472:0.0	.	407	Q8IVM8	S22A9_HUMAN	Q	407	ENSP00000279178:R407Q	ENSP00000279178:R407Q	R	+	2	0	SLC22A9	62930691	0.002000	0.14202	0.000000	0.03702	0.461000	0.32589	1.132000	0.31418	-0.424000	0.07382	0.205000	0.17691	CGA		0.483	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866	
KIAA1377	57562	broad.mit.edu	37	11	101815013	101815013	+	Missense_Mutation	SNP	G	G	A	rs145886481		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:101815013G>A	ENST00000263468.8	+	3	536	c.266G>A	c.(265-267)cGa>cAa	p.R89Q		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	89										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAGGAGAAACGAAAAGAACAG	0.313																																						uc001pgm.2																			0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(265-267)CGA>CAA		hypothetical protein LOC57562							59.0	62.0	61.0					11																	101815013		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101815013G>A	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.266G>A	11.37:g.101815013G>A	ENSP00000263468:p.Arg89Gln					KIAA1377_uc001pgn.2_Missense_Mutation_p.R45Q|KIAA1377_uc009yxa.1_5'UTR	p.R89Q	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	3	536	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	89			Potential.		Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.266G>A	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241594	0.39598	.	.	ENSG00000110318	ENST00000263468	T	0.11277	2.79	5.92	3.0	0.34707	.	0.217453	0.28420	N	0.015409	T	0.24624	0.0597	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	T	0.00686	-1.1610	10	0.59425	D	0.04	-5.2409	7.5734	0.27922	0.1449:0.0:0.7189:0.1362	.	89	Q9P2H0	K1377_HUMAN	Q	89	ENSP00000263468:R89Q	ENSP00000263468:R89Q	R	+	2	0	KIAA1377	101320223	0.932000	0.31603	0.910000	0.35882	0.942000	0.58702	0.813000	0.27225	0.798000	0.33994	0.650000	0.86243	CGA		0.313	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802	
UBASH3B	84959	broad.mit.edu	37	11	122653798	122653798	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:122653798G>A	ENST00000284273.5	+	5	1014	c.639G>A	c.(637-639)gtG>gtA	p.V213V		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	213					negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AGCTACATGTGACCCTGGCTT	0.473																																						uc001pyi.3																			0				central_nervous_system(1)	1						c.(637-639)GTG>GTA		ubiquitin associated and SH3 domain containing,							253.0	245.0	248.0					11																	122653798		2202	4299	6501	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122653798G>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.639G>A	11.37:g.122653798G>A							p.V213V	NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	5	999	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	213					Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.639G>A	CCDS31694.1																																																																																				0.473	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873	
APLP2	334	broad.mit.edu	37	11	130005535	130005535	+	Missense_Mutation	SNP	G	G	A	rs373551122		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:130005535G>A	ENST00000263574.5	+	13	1834	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	APLP2_ENST00000338167.5_Missense_Mutation_p.V588M|APLP2_ENST00000539648.1_Missense_Mutation_p.V376M|APLP2_ENST00000278756.7_Missense_Mutation_p.V598M|APLP2_ENST00000345598.5_Missense_Mutation_p.V359M|APLP2_ENST00000543137.1_Missense_Mutation_p.V495M|APLP2_ENST00000528499.1_Missense_Mutation_p.V532M	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	588					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GGACGTCCGGGTGAGCTCTGA	0.592																																						uc010sby.1																			0				ovary(3)	3						c.(1762-1764)GTG>ATG		amyloid beta (A4) precursor-like protein 2							120.0	106.0	111.0					11																	130005535		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:130005535G>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1762G>A	11.37:g.130005535G>A	ENSP00000263574:p.Val588Met					APLP2_uc001qfp.2_Missense_Mutation_p.V588M|APLP2_uc001qfq.2_Missense_Mutation_p.V532M|APLP2_uc010sbz.1_Missense_Mutation_p.V376M|APLP2_uc001qfr.2_Missense_Mutation_p.V354M|APLP2_uc001qfs.2_Missense_Mutation_p.V359M|APLP2_uc001qfv.2_Missense_Mutation_p.V479M	p.V588M	NM_001642	NP_001633	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	13	1919	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	588			Extracellular (Potential).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.1762G>A	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888377	0.91814	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.68586	0.3017	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.999;0.997;0.993;0.981;0.985;0.999	T	0.70901	-0.4746	10	0.72032	D	0.01	-34.2236	18.2456	0.89984	0.0:0.0:1.0:0.0	.	376;588;532;359;526;532;588	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	M	532;376;588;359;588;598;495	ENSP00000435914:V532M;ENSP00000443728:V376M;ENSP00000263574:V588M;ENSP00000263575:V359M;ENSP00000345444:V588M;ENSP00000278756:V598M;ENSP00000444122:V495M	ENSP00000263574:V588M	V	+	1	0	APLP2	129510745	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.357000	0.97099	2.558000	0.86282	0.585000	0.79938	GTG		0.592	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642	
CAPRIN2	65981	broad.mit.edu	37	12	30888067	30888067	+	Missense_Mutation	SNP	C	C	T	rs139487645	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:30888067C>T	ENST00000395805.2	-	4	1191	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.R215Q|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.R215Q|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.R215Q|CAPRIN2_ENST00000308433.5_5'UTR	NM_001206856.1	NP_001193785.1			caprin family member 2									p.R215Q(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)					AAGTATAGTTCGAAGCTTTTT	0.413																																						uc001rji.1																			1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|central_nervous_system(1)	2						c.(643-645)CGA>CAA		C1q domain containing 1 isoform 1		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	182.0	172.0	175.0		644,644,644,644	3.7	1.0	12	dbSNP_134	175	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CAPRIN2	NM_001002259.1,NM_001206856.1,NM_023925.3,NM_032156.3	43,43,43,43	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	215/1128,215/906,215/1078,215/961	30888067	5,13001	2203	4300	6503	SO:0001583	missense	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.chr12:30888067C>T	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.644G>A	12.37:g.30888067C>T	ENSP00000379150:p.Arg215Gln					CAPRIN2_uc001rjf.1_Missense_Mutation_p.R12Q|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R215Q|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjk.3_Missense_Mutation_p.R215Q|CAPRIN2_uc001rjl.3_Missense_Mutation_p.R215Q	p.R215Q	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN			4	1395	-	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)		215			Potential.			Missense_Mutation	SNP	ENST00000395805.2	37	c.644G>A	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817715	0.71028	9.08E-4	1.16E-4	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045;ENST00000537108;ENST00000541765;ENST00000543380;ENST00000542550	T;T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0	4.61	3.72	0.42706	.	0.400491	0.26594	N	0.023513	T	0.21468	0.0517	L	0.49126	1.545	0.80722	D	1	D;D;D;D;P	0.60575	0.988;0.979;0.98;0.971;0.891	B;P;P;P;B	0.44897	0.336;0.463;0.462;0.455;0.273	T	0.01951	-1.1241	10	0.62326	D	0.03	-2.0219	9.0864	0.36584	0.0:0.8335:0.0:0.1665	.	215;215;215;215;215	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	Q	215;215;215;215;134;12;12;134	ENSP00000298892:R215Q;ENSP00000379150:R215Q;ENSP00000251071:R215Q;ENSP00000391479:R215Q;ENSP00000438010:R134Q;ENSP00000444137:R12Q;ENSP00000440785:R12Q;ENSP00000443353:R134Q	ENSP00000251071:R215Q	R	-	2	0	CAPRIN2	30779334	0.994000	0.37717	0.985000	0.45067	0.983000	0.72400	1.955000	0.40372	1.155000	0.42497	-0.218000	0.12543	CGA		0.413	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925	
OR6C3	254786	broad.mit.edu	37	12	55725701	55725701	+	Missense_Mutation	SNP	G	G	A	rs139430640	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:55725701G>A	ENST00000379667.1	+	1	217	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	73					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATTTACAACCGTATGCATCCC	0.428																																						uc010spj.1																			0				skin(1)	1						c.(217-219)GTA>ATA		olfactory receptor, family 6, subfamily C,			ILE/VAL	0,4406		0,0,2203	95.0	105.0	102.0		217	4.1	0.4	12	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR6C3	NM_054104.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	73/312	55725701	1,13005	2203	4300	6503	SO:0001583	missense	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55725701G>A	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.217G>A	12.37:g.55725701G>A	ENSP00000368989:p.Val73Ile						p.V73I	NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN			1	217	+			73			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000379667.1	37	c.217G>A	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446486	0.43429	0.0	1.16E-4	ENSG00000205329	ENST00000379667	T	0.01234	5.13	5.02	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.158118	0.29424	N	0.012191	T	0.02047	0.0064	L	0.45581	1.43	0.09310	N	1	D	0.54772	0.968	P	0.46629	0.522	T	0.49303	-0.8954	10	0.49607	T	0.09	.	6.1286	0.20194	0.1514:0.0:0.6839:0.1648	.	73	Q9NZP0	OR6C3_HUMAN	I	73	ENSP00000368989:V73I	ENSP00000368989:V73I	V	+	1	0	OR6C3	54011968	0.000000	0.05858	0.410000	0.26471	0.610000	0.37248	0.690000	0.25451	2.771000	0.95319	0.461000	0.40582	GTA		0.428	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1		
PPFIA2	8499	broad.mit.edu	37	12	81747072	81747072	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:81747072C>A	ENST00000549396.1	-	17	1980	c.1820G>T	c.(1819-1821)gGa>gTa	p.G607V	PPFIA2_ENST00000550584.2_Missense_Mutation_p.G607V|PPFIA2_ENST00000552948.1_Missense_Mutation_p.G607V|PPFIA2_ENST00000548586.1_Missense_Mutation_p.G607V|PPFIA2_ENST00000550359.2_Missense_Mutation_p.G454V|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G533V|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G174V|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G508V|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G589V|PPFIA2_ENST00000333447.7_Missense_Mutation_p.G589V	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	607					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCTTAGTACTCCAATCTGTTG	0.368																																						uc001szo.1																			0		p.G607G(1)		ovary(3)|lung(2)|pancreas(1)	6						c.(1819-1821)GGA>GTA		PTPRF interacting protein alpha 2							137.0	130.0	132.0					12																	81747072		1885	4124	6009	SO:0001583	missense	8499							g.chr12:81747072C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1820G>T	12.37:g.81747072C>A	ENSP00000450337:p.Gly607Val					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.G607V	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			17	1981	-			533					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.1820G>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744087	0.49151	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058	T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.44	4.53	0.55603	.	0.118193	0.56097	D	0.000027	T	0.45054	0.1323	L	0.50333	1.59	0.80722	D	1	B	0.23249	0.082	B	0.24394	0.053	T	0.39210	-0.9625	10	0.51188	T	0.08	-20.7501	15.2418	0.73476	0.0:0.734:0.266:0.0	.	607	O75334	LIPA2_HUMAN	V	607;589;174;533;618;589;607;508;607;188	ENSP00000450337:G607V;ENSP00000450298:G589V;ENSP00000438337:G174V;ENSP00000385093:G533V;ENSP00000327416:G589V;ENSP00000449338:G607V;ENSP00000388373:G508V;ENSP00000447868:G607V;ENSP00000448941:G188V	ENSP00000327416:G589V	G	-	2	0	PPFIA2	80271203	0.998000	0.40836	0.999000	0.59377	0.984000	0.73092	3.257000	0.51500	1.239000	0.43787	0.585000	0.79938	GGA		0.368	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
ANO4	121601	broad.mit.edu	37	12	101520783	101520783	+	Missense_Mutation	SNP	C	C	T	rs139827573		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:101520783C>T	ENST00000392977.3	+	27	3013	c.2803C>T	c.(2803-2805)Cgt>Tgt	p.R935C	ANO4_ENST00000550015.1_Missense_Mutation_p.R455C|ANO4_ENST00000299222.9_Missense_Mutation_p.R455C|ANO4_ENST00000392979.3_Missense_Mutation_p.R900C			Q32M45	ANO4_HUMAN	anoctamin 4	935					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R900S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGAACTGGAACGTCTCCAGAA	0.483										HNSCC(74;0.22)																												uc010svm.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(2803-2805)CGT>TGT		anoctamin 4		C	CYS/ARG	0,4406		0,0,2203	125.0	96.0	106.0		2698	5.6	1.0	12	dbSNP_134	106	2,8598	2.2+/-6.3	0,2,4298	no	missense	ANO4	NM_178826.3	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	900/921	101520783	2,13004	2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101520783C>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2803C>T	12.37:g.101520783C>T	ENSP00000376703:p.Arg935Cys	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.R900C|ANO4_uc001thx.2_Missense_Mutation_p.R935C|ANO4_uc001thy.2_Missense_Mutation_p.R455C	p.R935C	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			27	3375	+			935			Extracellular (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2803C>T		.	.	.	.	.	.	.	.	.	.	C	22.3	4.271693	0.80469	0.0	2.33E-4	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.70631	-0.49;-0.36;-0.5;-0.36	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	N	0.14661	0.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;P;P	0.62184	0.899;0.871;0.899	T	0.74466	-0.3656	10	0.66056	D	0.02	.	14.7364	0.69419	0.1447:0.8553:0.0:0.0	.	455;935;900	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	C	900;455;935;455	ENSP00000376705:R900C;ENSP00000299222:R455C;ENSP00000376703:R935C;ENSP00000450192:R455C	ENSP00000299222:R455C	R	+	1	0	ANO4	100044914	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.442000	0.44873	2.769000	0.95229	0.655000	0.94253	CGT		0.483	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	
TMEM132D	121256	broad.mit.edu	37	12	130184923	130184923	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:130184923G>C	ENST00000422113.2	-	2	726	c.400C>G	c.(400-402)Ctg>Gtg	p.L134V	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	134					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTGTCCCGCAGGATGTGGGCT	0.537																																						uc009zyl.1																			0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(400-402)CTG>GTG		transmembrane protein 132D precursor							46.0	46.0	46.0					12																	130184923		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184923G>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.400C>G	12.37:g.130184923G>C	ENSP00000408581:p.Leu134Val						p.L134V	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	728	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	134			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.400C>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	3.065	-0.192388	0.06259	.	.	ENSG00000151952	ENST00000422113	T	0.09817	2.94	5.33	-0.947	0.10382	.	0.493567	0.16548	N	0.209626	T	0.06826	0.0174	L	0.38733	1.17	0.28063	N	0.932875	B	0.12013	0.005	B	0.11329	0.006	T	0.33007	-0.9885	9	.	.	.	-9.71	5.3048	0.15797	0.0707:0.1625:0.4613:0.3055	.	134	Q14C87	T132D_HUMAN	V	134	ENSP00000408581:L134V	.	L	-	1	2	TMEM132D	128750876	1.000000	0.71417	0.814000	0.32528	0.677000	0.39632	0.640000	0.24705	-0.053000	0.13289	0.555000	0.69702	CTG		0.537	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
FLT1	2321	broad.mit.edu	37	13	28931760	28931760	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr13:28931760C>A	ENST00000282397.4	-	15	2430	c.2179G>T	c.(2179-2181)Ggt>Tgt	p.G727C		NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	727	Ig-like C2-type 7.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.G727C(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGATAGACACCTTCATCCTCT	0.448																																						uc001usb.3																			1	Substitution - Missense(1)	p.G727C(1)	central_nervous_system(1)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(2179-2181)GGT>TGT		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						212.0	195.0	201.0					13																	28931760		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28931760C>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2179G>T	13.37:g.28931760C>A	ENSP00000282397:p.Gly727Cys						p.G727C	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	15	2464	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	727			Ig-like C2-type 7.|Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.2179G>T	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510309	0.85282	.	.	ENSG00000102755	ENST00000282397	T	0.81415	-1.49	6.07	6.07	0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94729	0.8299	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96390	0.9288	10	0.87932	D	0	.	18.8245	0.92111	0.0:1.0:0.0:0.0	.	727	P17948	VGFR1_HUMAN	C	727	ENSP00000282397:G727C	ENSP00000282397:G727C	G	-	1	0	FLT1	27829760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.201000	0.72124	2.884000	0.98904	0.655000	0.94253	GGT		0.448	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
BIVM	54841	broad.mit.edu	37	13	103491945	103491945	+	Silent	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr13:103491945C>T	ENST00000257336.1	+	11	1921	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	BIVM_ENST00000419638.1_3'UTR|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.H386Y|BIVM_ENST00000448849.2_Silent_p.I192I	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	414						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGCATTGCATCATAGCATTCC	0.398																																						uc001vpu.1										Mis|N|F						skin basal cell|skin squamous cell|melanoma			0				ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(1240-1242)ATC>ATT	Direct_reversal_of_damage|NER	XPG-complementing protein							84.0	86.0	85.0					13																	103491945		2203	4300	6503	SO:0001819	synonymous_variant	2073	Xeroderma_Pigmentosum			negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103491945C>T	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.1242C>T	13.37:g.103491945C>T						BIVM_uc001vps.2_Silent_p.I414I|BIVM_uc010agc.2_Silent_p.I192I|BIVM_uc001vpv.2_Silent_p.I185I	p.I414I	NM_000123	NP_000114	P28715	ERCC5_HUMAN			9	1364	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		Error:Variant_position_missing_in_P28715_after_alignment					Q2M1J2|Q9NXM4	Silent	SNP	ENST00000257336.1	37	c.1242C>T	CCDS9505.1																																																																																				0.398	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2		
ANKRD10	55608	broad.mit.edu	37	13	111532388	111532388	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr13:111532388G>A	ENST00000267339.2	-	6	993	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	ANKRD10_ENST00000375758.5_3'UTR	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	287										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			GTCGTGGAGGGGAAGTCCAAA	0.473																																						uc001vrn.2																			0				central_nervous_system(1)	1						c.(859-861)CCC>TCC		ankyrin repeat domain 10							75.0	76.0	76.0					13																	111532388		2203	4300	6503	SO:0001583	missense	55608							g.chr13:111532388G>A	AK000100	CCDS9520.1, CCDS66580.1	13q33.3	2013-01-10			ENSG00000088448	ENSG00000088448		"""Ankyrin repeat domain containing"""	20265	protein-coding gene	gene with protein product							Standard	NM_017664		Approved	FLJ20093	uc001vrn.3	Q9NXR5	OTTHUMG00000017349	ENST00000267339.2:c.859C>T	13.37:g.111532388G>A	ENSP00000267339:p.Pro287Ser					ANKRD10_uc001vrm.2_Missense_Mutation_p.P24S|ANKRD10_uc001vrl.2_RNA	p.P287S	NM_017664	NP_060134	Q9NXR5	ANR10_HUMAN	all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)		6	994	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		287					Q5VW12|Q9BV12	Missense_Mutation	SNP	ENST00000267339.2	37	c.859C>T	CCDS9520.1	.	.	.	.	.	.	.	.	.	.	G	3.198	-0.164252	0.06502	.	.	ENSG00000088448	ENST00000267339	T	0.68903	-0.36	5.03	0.987	0.19790	.	0.748585	0.12967	N	0.424516	T	0.53012	0.1770	L	0.56769	1.78	0.80722	D	1	B	0.17852	0.024	B	0.10450	0.005	T	0.40961	-0.9535	10	0.23302	T	0.38	-7.3401	1.281	0.02040	0.1746:0.1273:0.3362:0.362	.	287	Q9NXR5	ANR10_HUMAN	S	287	ENSP00000267339:P287S	ENSP00000267339:P287S	P	-	1	0	ANKRD10	110330389	1.000000	0.71417	0.971000	0.41717	0.952000	0.60782	1.296000	0.33389	0.141000	0.18875	-0.391000	0.06502	CCC		0.473	ANKRD10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045783.1		
TGM5	9333	broad.mit.edu	37	15	43552685	43552685	+	Missense_Mutation	SNP	G	G	A	rs370983556		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr15:43552685G>A	ENST00000220420.5	-	2	110	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	TGM5_ENST00000349114.4_Missense_Mutation_p.R35W	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	35					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCCTGGCCCCGGCGAACAAGC	0.572																																						uc001zrd.1																			0				central_nervous_system(1)	1						c.(103-105)CGG>TGG		transglutaminase 5 isoform 1	L-Glutamine(DB00130)	G	TRP/ARG,TRP/ARG	0,4404		0,0,2202	107.0	111.0	110.0		103,103	2.5	1.0	15		110	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	TGM5	NM_004245.3,NM_201631.3	101,101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	35/639,35/721	43552685	1,13001	2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43552685G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.103C>T	15.37:g.43552685G>A	ENSP00000220420:p.Arg35Trp					TGM5_uc001zre.1_Missense_Mutation_p.R35W	p.R35W	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	2	111	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	35					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.103C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.537117	0.45176	0.0	1.16E-4	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.98958	-5.27;-5.27	5.64	2.49	0.30216	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	M	0.91196	3.185	0.27203	N	0.960122	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96408	0.9302	10	0.87932	D	0	-30.4928	12.6995	0.57024	0.0:0.0:0.4354:0.5646	.	35;35	O43548-2;O43548	.;TGM5_HUMAN	W	35;35;34	ENSP00000220420:R35W;ENSP00000220419:R35W	ENSP00000220420:R35W	R	-	1	2	TGM5	41339977	0.240000	0.23847	0.995000	0.50966	0.130000	0.20726	0.259000	0.18405	0.670000	0.31165	0.555000	0.69702	CGG		0.572	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245	
PML	5371	broad.mit.edu	37	15	74315385	74315385	+	Silent	SNP	C	C	T	rs112627818	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr15:74315385C>T	ENST00000268058.3	+	3	915	c.819C>T	c.(817-819)gcC>gcT	p.A273A	PML_ENST00000567543.1_Silent_p.A273A|PML_ENST00000569161.1_3'UTR|PML_ENST00000569965.1_Silent_p.A273A|PML_ENST00000395135.3_Silent_p.A273A|PML_ENST00000268059.6_Silent_p.A273A|PML_ENST00000395132.2_Silent_p.A273A|PML_ENST00000354026.6_Silent_p.A273A|PML_ENST00000563500.1_Silent_p.A273A|PML_ENST00000564428.1_Silent_p.A273A|PML_ENST00000565898.1_Silent_p.A273A|PML_ENST00000436891.3_Silent_p.A273A|PML_ENST00000359928.4_Silent_p.A273A|PML_ENST00000569477.1_Silent_p.A273A|PML_ENST00000435786.2_Silent_p.A273A	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	273					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A273A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCGCGCGTGCCGAGACCGAGG	0.716			T	"""RARA, PAX5"""	"""APL, ALL"""																																	uc002awv.2				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	RARA|PAX5		APL|ALL		1	Substitution - coding silent(1)	p.A273A(1)	central_nervous_system(1)	central_nervous_system(2)|kidney(2)|breast(1)	5						c.(817-819)GCC>GCT		promyelocytic leukemia protein isoform 1							12.0	13.0	13.0					15																	74315385		2174	4239	6413	SO:0001819	synonymous_variant	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding	g.chr15:74315385C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.819C>T	15.37:g.74315385C>T						PML_uc002awm.2_Silent_p.A273A|PML_uc002awl.2_Silent_p.A273A|PML_uc002awj.1_Silent_p.A273A|PML_uc002awk.2_Silent_p.A273A|PML_uc002awn.2_Silent_p.A273A|PML_uc002awo.2_Silent_p.A273A|PML_uc002awp.2_Silent_p.A273A|PML_uc002awq.2_Silent_p.A273A|PML_uc002awr.2_Silent_p.A273A|PML_uc002aws.2_Silent_p.A273A|PML_uc002awt.2_Silent_p.A273A|PML_uc002awu.2_Silent_p.A273A|PML_uc010ule.1_Intron|PML_uc002aww.1_Silent_p.A188A|PML_uc002awx.2_Silent_p.A31A|PML_uc002awy.2_5'Flank	p.A273A	NM_033238	NP_150241	P29590	PML_HUMAN			3	959	+			273					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	37	c.819C>T	CCDS10255.1																																																																																				0.716	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675	
ZNF597	146434	broad.mit.edu	37	16	3490932	3490932	+	Splice_Site	SNP	C	C	A	rs139189056	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:3490932C>A	ENST00000301744.4	-	3	270	c.35G>T	c.(34-36)gGa>gTa	p.G12V	NAA60_ENST00000573580.1_5'Flank|NAA60_ENST00000608722.1_5'Flank|NAA60_ENST00000407558.4_5'Flank|NAA60_ENST00000424546.2_5'Flank	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GAGTATTGGTCCCTGAAACAC	0.507																																						uc002cvd.2																			0					0						c.(34-36)GGA>GTA		zinc finger protein 597							60.0	59.0	60.0					16																	3490932		2197	4300	6497	SO:0001630	splice_region_variant	146434				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3490932C>A	AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"""Zinc fingers, C2H2-type"", ""-"""	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.34-1G>T	16.37:g.3490932C>A						NAT15_uc002cvh.3_5'Flank|NAT15_uc010uxb.1_5'Flank	p.G12V	NM_152457	NP_689670	Q96LX8	ZN597_HUMAN			3	219	-			12						Missense_Mutation	SNP	ENST00000301744.4	37	c.35G>T	CCDS10505.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897046	0.52121	.	.	ENSG00000167981	ENST00000301744	T	0.00873	5.59	4.27	2.31	0.28768	Krueppel-associated box (1);	0.410836	0.18084	N	0.152207	T	0.02610	0.0079	L	0.57536	1.79	0.46823	D	0.999216	D	0.67145	0.996	P	0.61132	0.884	T	0.58228	-0.7673	10	0.56958	D	0.05	-2.8434	6.4788	0.22051	0.0:0.7787:0.0:0.2213	.	12	Q96LX8	ZN597_HUMAN	V	12	ENSP00000301744:G12V	ENSP00000301744:G12V	G	-	2	0	ZNF597	3430933	0.002000	0.14202	0.798000	0.32154	0.849000	0.48306	-0.437000	0.06914	0.553000	0.29044	0.563000	0.77884	GGA		0.507	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457	Missense_Mutation
RBFOX1	54715	broad.mit.edu	37	16	7568246	7568246	+	Missense_Mutation	SNP	C	C	T	rs146499343		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:7568246C>T	ENST00000550418.1	+	5	1113	c.125C>T	c.(124-126)aCg>aTg	p.T42M	RBFOX1_ENST00000436368.2_Missense_Mutation_p.T62M|RBFOX1_ENST00000422070.4_Missense_Mutation_p.T85M|RBFOX1_ENST00000535565.2_Missense_Mutation_p.T78M|RBFOX1_ENST00000547372.1_Missense_Mutation_p.T85M|RBFOX1_ENST00000553186.1_Missense_Mutation_p.T42M|RBFOX1_ENST00000552089.1_Missense_Mutation_p.T78M|RBFOX1_ENST00000340209.4_Missense_Mutation_p.T47M|RBFOX1_ENST00000311745.5_Missense_Mutation_p.T62M|RBFOX1_ENST00000547338.1_Missense_Mutation_p.T42M|RBFOX1_ENST00000355637.4_Missense_Mutation_p.T62M	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	42					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCGGAATACACGGCCCCTCAT	0.637																																					Ovarian(157;934 2567 15163 39509)	uc002cys.2																			0					0						c.(124-126)ACG>ATG		ataxin 2-binding protein 1 isoform 4		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4394		0,0,2197	121.0	118.0	119.0		125,125,125,185,185,185	4.8	1.0	16	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	RBFOX1	NM_001142333.1,NM_001142334.1,NM_018723.3,NM_145891.2,NM_145892.2,NM_145893.2	81,81,81,81,81,81	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	42/371,42/398,42/398,62/419,62/393,62/396	7568246	1,12993	2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568246C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.125C>T	16.37:g.7568246C>T	ENSP00000450031:p.Thr42Met					A2BP1_uc010buf.1_Missense_Mutation_p.T42M|A2BP1_uc002cyr.1_Missense_Mutation_p.T42M|A2BP1_uc002cyt.2_Missense_Mutation_p.T42M|A2BP1_uc010uxz.1_Missense_Mutation_p.T85M|A2BP1_uc010uya.1_Missense_Mutation_p.T78M|A2BP1_uc002cyv.1_Missense_Mutation_p.T42M|A2BP1_uc010uyb.1_Missense_Mutation_p.T42M|A2BP1_uc002cyw.2_Missense_Mutation_p.T62M|A2BP1_uc002cyy.2_Missense_Mutation_p.T62M|A2BP1_uc002cyx.2_Missense_Mutation_p.T62M|A2BP1_uc010uyc.1_Missense_Mutation_p.T62M	p.T42M	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	5	1113	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	42					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.125C>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643869	0.87859	0.0	1.16E-4	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.32753	1.9;1.44;1.74;1.7;1.71;1.85;1.44;1.57;1.77;1.75;1.46	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.46600	0.1401	L	0.36672	1.1	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.992;1.0;0.978;0.962;0.999	D;D;D;D;P;D;P;P;D	0.87578	0.977;0.994;0.952;0.97;0.796;0.998;0.796;0.629;0.949	T	0.33343	-0.9872	10	0.34782	T	0.22	-7.3313	17.9952	0.89181	0.0:1.0:0.0:0.0	.	62;78;85;62;62;62;42;42;85	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	M	42;42;42;85;85;78;78;42;42;62;62;62;62;47	ENSP00000450402:T42M;ENSP00000450031:T42M;ENSP00000447753:T42M;ENSP00000446842:T85M;ENSP00000391269:T85M;ENSP00000447281:T42M;ENSP00000447717:T42M;ENSP00000402745:T62M;ENSP00000309117:T62M;ENSP00000347855:T62M;ENSP00000344196:T47M	ENSP00000309117:T62M	T	+	2	0	RBFOX1	7508247	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.041000	0.76558	2.222000	0.72286	0.557000	0.71058	ACG		0.637	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891	
ACSM1	116285	broad.mit.edu	37	16	20702408	20702408	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:20702408A>G	ENST00000307493.4	-	1	170	c.103T>C	c.(103-105)Ttt>Ctt	p.F35L	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.F35L	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	35					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGGGCTCCAAATTCTGATAAA	0.498																																						uc002dhm.1																			0				central_nervous_system(1)|skin(1)	2						c.(103-105)TTT>CTT		acyl-CoA synthetase medium-chain family member							135.0	143.0	140.0					16																	20702408		2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20702408A>G	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.103T>C	16.37:g.20702408A>G	ENSP00000301956:p.Phe35Leu					ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.F35L	p.F35L	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN			1	171	-			35					Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	c.103T>C	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	a	5.843	0.339715	0.11069	.	.	ENSG00000166743	ENST00000307493;ENST00000520010;ENST00000523065	T;T;T	0.39787	1.06;1.06;1.65	4.43	-8.85	0.00799	.	1.607420	0.03624	N	0.236819	T	0.19805	0.0476	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.13737	-1.0498	10	0.41790	T	0.15	-25.5596	2.3853	0.04364	0.1851:0.1146:0.3793:0.321	.	35	Q08AH1	ACSM1_HUMAN	L	35	ENSP00000301956:F35L;ENSP00000428047:F35L;ENSP00000428830:F35L	ENSP00000301956:F35L	F	-	1	0	ACSM1	20609909	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.611000	0.00059	-3.034000	0.00265	-4.098000	0.00011	TTT		0.498	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956	
VWA3A	146177	broad.mit.edu	37	16	22142922	22142922	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:22142922C>T	ENST00000389398.5	+	19	1840	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	582	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCTGAACCTGCGGTGTCGGGG	0.577																																						uc010vbq.1																			0				skin(1)	1						c.(1744-1746)CGG>TGG		von Willebrand factor A domain containing 3A							47.0	49.0	48.0					16																	22142922		1987	4166	6153	SO:0001583	missense	146177					extracellular region		g.chr16:22142922C>T	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1744C>T	16.37:g.22142922C>T	ENSP00000374049:p.Arg582Trp					VWA3A_uc010bxd.2_RNA|VWA3A_uc010bxc.2_Missense_Mutation_p.R590W	p.R582W	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	19	1840	+			582			VWFA 1.		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.1744C>T	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506269	0.44558	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.08193	3.12	5.36	2.1	0.27182	.	0.992462	0.08191	N	0.983840	T	0.12689	0.0308	N	0.24115	0.695	0.36916	D	0.891146	D;D	0.76494	0.999;0.997	P;P	0.56916	0.809;0.711	T	0.34875	-0.9811	10	0.87932	D	0	.	9.078	0.36534	0.3687:0.5132:0.1181:0.0	.	582;206	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	W	582;205	ENSP00000374049:R582W	ENSP00000299840:R205W	R	+	1	2	VWA3A	22050423	0.097000	0.21791	0.656000	0.29637	0.335000	0.28730	0.258000	0.18387	1.222000	0.43521	0.563000	0.77884	CGG		0.577	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1		
CD19	930	broad.mit.edu	37	16	28948983	28948983	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:28948983C>T	ENST00000324662.3	+	11	1455	c.1411C>T	c.(1411-1413)Ccg>Tcg	p.P471S	CD19_ENST00000567541.1_Missense_Mutation_p.P471S|CD19_ENST00000538922.1_Missense_Mutation_p.P471S			P15391	CD19_HUMAN	CD19 molecule	471					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GCTGACCCAGCCGGTCGCCAG	0.577																																						uc002drs.2																			0				ovary(2)|central_nervous_system(1)	3						c.(1411-1413)CCG>TCG		CD19 antigen precursor							80.0	82.0	81.0					16																	28948983		2197	4300	6497	SO:0001583	missense	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28948983C>T		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1411C>T	16.37:g.28948983C>T	ENSP00000313419:p.Pro471Ser					uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.P471S	p.P471S	NM_001770	NP_001761	P15391	CD19_HUMAN			11	1473	+			471			Cytoplasmic (Potential).		A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	c.1411C>T	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537940	0.85917	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662;ENST00000537306	T;T	0.48836	0.8;0.8	4.36	3.38	0.38709	.	0.163222	0.29145	N	0.013002	T	0.39279	0.1072	L	0.29908	0.895	0.19775	N	0.999951	P;P	0.46064	0.872;0.798	P;B	0.45856	0.495;0.3	T	0.21655	-1.0239	10	0.62326	D	0.03	-7.1174	9.7212	0.40304	0.2077:0.7922:0.0:0.0	.	471;471	F5H635;P15391	.;CD19_HUMAN	S	471;278;471;320	ENSP00000437940:P471S;ENSP00000313419:P471S	ENSP00000313419:P471S	P	+	1	0	CD19	28856484	0.025000	0.19082	0.277000	0.24703	0.892000	0.51952	1.308000	0.33528	0.925000	0.37094	0.313000	0.20887	CCG		0.577	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2		
MYBBP1A	10514	broad.mit.edu	37	17	4455265	4455265	+	Silent	SNP	C	C	T	rs149464957		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:4455265C>T	ENST00000254718.4	-	8	1239	c.933G>A	c.(931-933)gcG>gcA	p.A311A	MYBBP1A_ENST00000381556.2_Silent_p.A311A			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	311	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGGGCAGGGCCGCGCCCAGCA	0.632													c|||	1	0.000199681	0.0	0.0	5008	,	,		17801	0.001		0.0	False		,,,				2504	0.0					uc002fyb.3																			0				ovary(1)|skin(1)	2						c.(931-933)GCG>GCA		MYB binding protein 1a isoform 2			,	0,4406		0,0,2203	78.0	77.0	78.0		933,933	-10.2	0.0	17	dbSNP_134	78	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	MYBBP1A	NM_001105538.1,NM_014520.3	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	311/1333,311/1329	4455265	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4455265C>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.933G>A	17.37:g.4455265C>T						MYBBP1A_uc002fxz.3_Silent_p.A311A	p.A311A	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN			8	995	-			311			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	c.933G>A	CCDS11046.1																																																																																				0.632	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520	
DVL2	1856	broad.mit.edu	37	17	7132476	7132476	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:7132476T>C	ENST00000005340.5	-	8	1217	c.935A>G	c.(934-936)gAg>gGg	p.E312G	DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Missense_Mutation_p.E306G	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	312	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GTCCCCTGGCTCAATGCGCCC	0.637																																						uc002gez.1																			0				lung(1)|kidney(1)	2						c.(934-936)GAG>GGG		dishevelled 2							66.0	64.0	65.0					17																	7132476		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7132476T>C	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.935A>G	17.37:g.7132476T>C	ENSP00000005340:p.Glu312Gly					DVL2_uc010vtr.1_Missense_Mutation_p.E306G|DVL2_uc010vts.1_3'UTR	p.E312G	NM_004422	NP_004413	O14641	DVL2_HUMAN			8	1217	-			312			PDZ.		D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.935A>G	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377810	0.82682	.	.	ENSG00000004975	ENST00000005340	T	0.29655	1.56	5.26	4.19	0.49359	PDZ/DHR/GLGF (4);	0.105172	0.64402	D	0.000007	T	0.53965	0.1829	M	0.80508	2.5	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.80764	0.965;0.994	T	0.56220	-0.8015	10	0.87932	D	0	-19.5356	9.1575	0.37000	0.0:0.087:0.0:0.913	.	306;312	B4DLQ0;O14641	.;DVL2_HUMAN	G	312	ENSP00000005340:E312G	ENSP00000005340:E312G	E	-	2	0	DVL2	7073200	1.000000	0.71417	0.957000	0.39632	0.960000	0.62799	7.989000	0.88205	0.860000	0.35481	0.459000	0.35465	GAG		0.637	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422	
DNAH2	146754	broad.mit.edu	37	17	7674216	7674216	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:7674216A>T	ENST00000572933.1	+	27	5787	c.4327A>T	c.(4327-4329)Att>Ttt	p.I1443F	DNAH2_ENST00000389173.2_Missense_Mutation_p.I1443F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1443	Stem. {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)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TATTGAGATGATTCTCACAGT	0.493																																						uc002giu.1																			0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(4327-4329)ATT>TTT		dynein heavy chain domain 3							133.0	111.0	119.0					17																	7674216		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7674216A>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4327A>T	17.37:g.7674216A>T	ENSP00000458355:p.Ile1443Phe						p.I1443F	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			26	4341	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1443			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.4327A>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.876864	0.51801	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.61392	0.11	4.96	0.635	0.17723	Dynein heavy chain, domain-2 (1);	0.346446	0.28109	N	0.016565	T	0.51907	0.1702	L	0.51914	1.62	0.80722	D	1	B	0.26483	0.15	B	0.41813	0.367	T	0.50600	-0.8809	10	0.72032	D	0.01	.	1.207	0.01896	0.2447:0.2781:0.3344:0.1428	.	1443	Q9P225	DYH2_HUMAN	F	1443	ENSP00000373825:I1443F	ENSP00000353818:I1443F	I	+	1	0	DNAH2	7614941	1.000000	0.71417	0.890000	0.34922	0.990000	0.78478	1.174000	0.31932	0.073000	0.16731	-0.248000	0.11899	ATT		0.493	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH9	1770	broad.mit.edu	37	17	11523026	11523026	+	Missense_Mutation	SNP	G	G	T	rs371049893		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:11523026G>T	ENST00000262442.4	+	6	1346	c.1278G>T	c.(1276-1278)aaG>aaT	p.K426N	DNAH9_ENST00000454412.2_Missense_Mutation_p.K426N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	426	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGAAGTCAAGGAATGGGATT	0.502																																						uc002gne.2																			0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(1276-1278)AAG>AAT		dynein, axonemal, heavy chain 9 isoform 2							137.0	131.0	133.0					17																	11523026		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11523026G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1278G>T	17.37:g.11523026G>T	ENSP00000262442:p.Lys426Asn						p.K426N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	6	1346	+		Breast(5;0.0122)|all_epithelial(5;0.131)	426			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.1278G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116207	0.37339	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.56776	0.44;0.44	5.98	2.9	0.33743	Dynein heavy chain, domain-1 (1);	0.554923	0.19169	N	0.120972	T	0.45716	0.1356	L	0.39898	1.24	0.09310	N	0.999998	P	0.41498	0.752	P	0.45794	0.493	T	0.28490	-1.0042	10	0.45353	T	0.12	.	6.224	0.20698	0.199:0.2553:0.5457:0.0	.	426	Q9NYC9	DYH9_HUMAN	N	426	ENSP00000262442:K426N;ENSP00000414874:K426N	ENSP00000262442:K426N	K	+	3	2	DNAH9	11463751	0.000000	0.05858	0.192000	0.23308	0.994000	0.84299	0.523000	0.22925	0.420000	0.25954	0.591000	0.81541	AAG		0.502	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
FOXN1	8456	broad.mit.edu	37	17	26861357	26861357	+	Silent	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:26861357C>T	ENST00000226247.2	+	6	965	c.936C>T	c.(934-936)ccC>ccT	p.P312P	FOXN1_ENST00000579795.1_Silent_p.P312P	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	312					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AGACAGCACCCGATGGCTGGA	0.552																																						uc010crm.2																			0				skin(1)	1						c.(934-936)CCC>CCT		forkhead box N1							69.0	69.0	69.0					17																	26861357		2203	4300	6503	SO:0001819	synonymous_variant	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26861357C>T	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.936C>T	17.37:g.26861357C>T						FOXN1_uc002hbj.2_Silent_p.P312P	p.P312P	NM_003593	NP_003584	O15353	FOXN1_HUMAN			7	1134	+	Lung NSC(42;0.00431)		312			Fork-head.		B2R9Q7|O15352	Silent	SNP	ENST00000226247.2	37	c.936C>T	CCDS11232.1																																																																																				0.552	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1		
SLFN13	146857	broad.mit.edu	37	17	33768202	33768202	+	Silent	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:33768202C>T	ENST00000285013.6	-	6	2381	c.2106G>A	c.(2104-2106)ctG>ctA	p.L702L	SLFN13_ENST00000542635.1_Silent_p.L702L|SLFN13_ENST00000526861.1_Silent_p.L702L|SLFN13_ENST00000534689.1_Silent_p.L384L|SLFN13_ENST00000360502.2_Silent_p.L384L|SLFN13_ENST00000533791.1_Silent_p.L702L	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	702						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAAAGTAGTCCAGAAAGATCC	0.483																																						uc002hjk.1																			0				ovary(1)|breast(1)	2						c.(2104-2106)CTG>CTA		schlafen family member 13							128.0	135.0	133.0					17																	33768202		2203	4300	6503	SO:0001819	synonymous_variant	146857					intracellular	ATP binding	g.chr17:33768202C>T	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2106G>A	17.37:g.33768202C>T						SLFN13_uc010wch.1_Silent_p.L702L|SLFN13_uc002hjl.2_Silent_p.L702L|SLFN13_uc010ctt.2_Silent_p.L384L|SLFN13_uc002hjm.2_Silent_p.L371L	p.L702L	NM_144682	NP_653283	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	4	2436	-			702					E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	ENST00000285013.6	37	c.2106G>A	CCDS32620.1																																																																																				0.483	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682	
MYOM1	8736	broad.mit.edu	37	18	3067533	3067533	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:3067533G>A	ENST00000356443.4	-	38	5118	c.4785C>T	c.(4783-4785)aaC>aaT	p.N1595N	MYOM1_ENST00000261606.7_Silent_p.N1499N|MYOM1_ENST00000400569.3_Silent_p.N1595N	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1595	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTCCCCACACGTTGCAAGTGA	0.537																																						uc002klp.2																			0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(4783-4785)AAC>AAT		myomesin 1 isoform a							40.0	43.0	42.0					18																	3067533		2066	4220	6286	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3067533G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4785C>T	18.37:g.3067533G>A						MYOM1_uc002klq.2_Silent_p.N1499N	p.N1595N	NM_003803	NP_003794	P52179	MYOM1_HUMAN			38	5119	-			1595			Ig-like C2-type 5.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.4785C>T	CCDS45824.1																																																																																				0.537	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
ROCK1	6093	broad.mit.edu	37	18	18533573	18533573	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:18533573G>A	ENST00000399799.2	-	32	4967	c.4027C>T	c.(4027-4029)Cgg>Tgg	p.R1343W		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1343	Auto-inhibitory.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ACCACTTTCCGGAAAGACTGA	0.358																																						uc002kte.2																			0				lung(2)|breast(2)|central_nervous_system(1)	5						c.(4027-4029)CGG>TGG		Rho-associated, coiled-coil containing protein							91.0	101.0	97.0					18																	18533573		2201	4296	6497	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18533573G>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.4027C>T	18.37:g.18533573G>A	ENSP00000382697:p.Arg1343Trp						p.R1343W	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			32	4968	-	Melanoma(1;0.165)		1343			Auto-inhibitory.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.4027C>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764115	0.31228	.	.	ENSG00000067900	ENST00000399799	T	0.72394	-0.65	4.88	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.69296	0.3095	N	0.08118	0	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.75628	-0.3252	10	0.87932	D	0	.	13.4607	0.61225	0.0:0.0:0.6287:0.3713	.	1343	Q13464	ROCK1_HUMAN	W	1343	ENSP00000382697:R1343W	ENSP00000382697:R1343W	R	-	1	2	ROCK1	16787571	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.691000	0.54720	1.024000	0.39682	0.404000	0.27445	CGG		0.358	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406	
DSC3	1825	broad.mit.edu	37	18	28598687	28598687	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:28598687C>A	ENST00000360428.4	-	8	1102	c.1022G>T	c.(1021-1023)tGt>tTt	p.C341F	DSC3_ENST00000434452.1_Missense_Mutation_p.C341F	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	341	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTTATGATACAAGTTGATGT	0.338																																						uc002kwj.3																			0				ovary(2)|skin(2)	4						c.(1021-1023)TGT>TTT		desmocollin 3 isoform Dsc3a preproprotein							178.0	166.0	170.0					18																	28598687		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28598687C>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1022G>T	18.37:g.28598687C>A	ENSP00000353608:p.Cys341Phe					DSC3_uc002kwi.3_Missense_Mutation_p.C341F	p.C341F	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		8	1177	-			341			Extracellular (Potential).|Cadherin 2.		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.1022G>T	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697077	0.68386	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.51071	0.72;0.72	5.25	5.25	0.73442	Cadherin (5);Cadherin-like (1);	0.587358	0.13399	N	0.390818	T	0.57917	0.2086	L	0.58583	1.82	0.35203	D	0.774475	B;P	0.48911	0.33;0.917	B;P	0.53593	0.319;0.73	T	0.66027	-0.6025	10	0.62326	D	0.03	.	12.4034	0.55426	0.0:0.7837:0.2162:0.0	.	341;341	Q14574;Q14574-2	DSC3_HUMAN;.	F	341	ENSP00000353608:C341F;ENSP00000392068:C341F	ENSP00000353608:C341F	C	-	2	0	DSC3	26852685	0.978000	0.34361	0.981000	0.43875	0.931000	0.56810	1.900000	0.39828	2.739000	0.93911	0.579000	0.79373	TGT		0.338	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423	
EPG5	57724	broad.mit.edu	37	18	43493732	43493732	+	Missense_Mutation	SNP	C	C	T	rs186446511	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:43493732C>T	ENST00000282041.5	-	21	3789	c.3755G>A	c.(3754-3756)cGg>cAg	p.R1252Q	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1252					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AATAACTCTCCGGAGCTGGGA	0.488													C|||	2	0.000399361	0.0	0.0	5008	,	,		17760	0.001		0.0	False		,,,				2504	0.001					uc002lbm.2																			0					0						c.(3754-3756)CGG>CAG		hypothetical protein LOC57724							91.0	91.0	91.0					18																	43493732		1886	4107	5993	SO:0001583	missense	57724				autophagy			g.chr18:43493732C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3755G>A	18.37:g.43493732C>T	ENSP00000282041:p.Arg1252Gln					KIAA1632_uc002lbo.1_Missense_Mutation_p.R1252Q|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.R127Q	p.R1252Q	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			21	3855	-			1252					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.3755G>A	CCDS11926.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.68	3.872027	0.72180	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.11495	2.77	5.34	5.34	0.76211	.	0.373285	0.27896	N	0.017405	T	0.31231	0.0790	M	0.63843	1.955	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.01156	-1.1434	10	0.23891	T	0.37	-9.2966	19.0507	0.93043	0.0:1.0:0.0:0.0	.	1252;1252	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	Q	1252;127	ENSP00000282041:R1252Q	ENSP00000282041:R1252Q	R	-	2	0	EPG5	41747730	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	4.541000	0.60670	2.506000	0.84524	0.591000	0.81541	CGG		0.488	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
NETO1	81832	broad.mit.edu	37	18	70417298	70417298	+	Splice_Site	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:70417298G>A	ENST00000327305.6	-	9	2197	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	NETO1_ENST00000299430.2_Splice_Site_p.R513W|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Splice_Site_p.R514W	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	514					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GATACTGACCGCTGGACGGCT	0.433																																						uc002lkw.2																			0				ovary(2)|skin(2)	4						c.(1540-1542)CGG>TGG		neuropilin- and tolloid-like protein 1 isoform 3							79.0	69.0	72.0					18																	70417298		2203	4300	6503	SO:0001630	splice_region_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417298G>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1541+1C>T	18.37:g.70417298G>A						NETO1_uc002lkx.1_Missense_Mutation_p.R513W|NETO1_uc002lky.1_Missense_Mutation_p.R514W	p.R514W	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	1824	-		Esophageal squamous(42;0.129)	514			Cytoplasmic (Potential).		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.1540C>T	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	G	30	5.049745	0.93740	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.33438	1.41;1.41	5.76	5.76	0.90799	.	0.000000	0.52532	D	0.000079	T	0.54498	0.1862	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	T	0.53187	-0.8474	10	0.87932	D	0	-8.9025	19.973	0.97292	0.0:0.0:1.0:0.0	.	513;514	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	W	514;513	ENSP00000313088:R514W;ENSP00000299430:R513W	ENSP00000299430:R513W	R	-	1	2	NETO1	68568278	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.429000	0.97481	2.725000	0.93324	0.460000	0.39030	CGG		0.433	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999	Missense_Mutation
CHAF1A	10036	broad.mit.edu	37	19	4433232	4433232	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:4433232C>T	ENST00000301280.5	+	13	2470	c.2369C>T	c.(2368-2370)gCc>gTc	p.A790V	CHAF1A_ENST00000587368.1_3'UTR|CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	790	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGAGGATGCCGCCATCCCC	0.652								Chromatin Structure																														uc002mal.2																			0				ovary(1)|skin(1)	2						c.(2368-2370)GCC>GTC	Chromatin_Structure	chromatin assembly factor 1, subunit A (p150)							70.0	72.0	71.0					19																	4433232		2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4433232C>T	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2369C>T	19.37:g.4433232C>T	ENSP00000301280:p.Ala790Val						p.A790V	NM_005483	NP_005474	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	13	2469	+		Hepatocellular(1079;0.137)	790			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.2369C>T	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	1.196	-0.633773	0.03584	.	.	ENSG00000167670	ENST00000301280	T	0.23147	1.92	5.65	-1.57	0.08506	.	.	.	.	.	T	0.05823	0.0152	N	0.01048	-1.04	0.09310	N	1	B	0.16802	0.019	B	0.12837	0.008	T	0.37934	-0.9684	8	.	.	.	-0.3293	1.4254	0.02322	0.1195:0.2737:0.2588:0.348	.	790	Q13111	CAF1A_HUMAN	V	790	ENSP00000301280:A790V	.	A	+	2	0	CHAF1A	4384232	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.071000	0.14594	0.037000	0.15575	-0.165000	0.13383	GCC		0.652	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483	
MUC16	94025	broad.mit.edu	37	19	9069201	9069201	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:9069201C>T	ENST00000397910.4	-	3	18448	c.18245G>A	c.(18244-18246)aGc>aAc	p.S6082N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6084	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)				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						CAGGGCGGTGCTGTCCTCTTT	0.498																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(18244-18246)AGC>AAC		mucin 16							80.0	88.0	86.0					19																	9069201		2135	4248	6383	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069201C>T	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.18245G>A	19.37:g.9069201C>T	ENSP00000381008:p.Ser6082Asn						p.S6082N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	18449	-			6084			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.18245G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.728	-0.264958	0.05754	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.11	-0.0788	0.13713	.	.	.	.	.	T	0.04092	0.0114	L	0.33485	1.01	.	.	.	D	0.55172	0.97	P	0.52343	0.696	T	0.39375	-0.9617	8	0.87932	D	0	.	4.3367	0.11090	0.3878:0.6122:0.0:0.0	.	6082	B5ME49	.	N	6082	ENSP00000381008:S6082N	ENSP00000381008:S6082N	S	-	2	0	MUC16	8930201	0.000000	0.05858	0.002000	0.10522	0.042000	0.13812	0.422000	0.21296	0.028000	0.15324	0.163000	0.16589	AGC		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
CALR	811	broad.mit.edu	37	19	13051173	13051173	+	Silent	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:13051173G>T	ENST00000316448.5	+	5	682	c.609G>T	c.(607-609)ctG>ctT	p.L203L		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	203	4 X approximate repeats.|P-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|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)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	GGGACTTCCTGCCACCCAAGA	0.532																																						uc002mvu.2																			0				ovary(1)	1						c.(607-609)CTG>CTT		calreticulin precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						79.0	85.0	83.0					19																	13051173		2203	4300	6503	SO:0001819	synonymous_variant	811				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	g.chr19:13051173G>T	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.609G>T	19.37:g.13051173G>T							p.L203L	NM_004343	NP_004334	P27797	CALR_HUMAN			5	689	+			203			P-domain.|4 X approximate repeats.		Q6IAT4|Q9UDG2	Silent	SNP	ENST00000316448.5	37	c.609G>T	CCDS12288.1																																																																																				0.532	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343	
CACNA1A	773	broad.mit.edu	37	19	13340971	13340971	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:13340971C>T	ENST00000360228.5	-	36	5452	c.5453G>A	c.(5452-5454)cGa>cAa	p.R1818Q	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1819Q|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1819					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAGGAGTCTCGGGTGAGGTA	0.597																																						uc010dze.2																			0				large_intestine(2)	2						c.(5455-5457)CGA>CAA		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						79.0	90.0	86.0					19																	13340971		2098	4250	6348	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13340971C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5453G>A	19.37:g.13340971C>T	ENSP00000353362:p.Arg1818Gln					CACNA1A_uc010xnd.1_Missense_Mutation_p.R524Q|CACNA1A_uc002mwx.3_Missense_Mutation_p.R524Q|CACNA1A_uc010dzc.2_Missense_Mutation_p.R1344Q|CACNA1A_uc002mwy.3_Missense_Mutation_p.R1818Q|CACNA1A_uc002mwv.3_Missense_Mutation_p.R335Q	p.R1819Q	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		36	5692	-			1819			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5456G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258173	0.80246	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96136	-3.92	4.33	4.33	0.51752	.	0.000000	0.64402	D	0.000008	D	0.98021	0.9348	M	0.90922	3.16	0.58432	D	0.999999	D;D;D;D	0.76494	0.998;0.999;0.997;0.998	D;D;D;D	0.73380	0.941;0.98;0.968;0.956	D	0.99312	1.0904	10	0.87932	D	0	.	15.5941	0.76566	0.0:1.0:0.0:0.0	.	1819;1824;1818;1819	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	Q	1818;1824;1819;1819	ENSP00000353362:R1818Q	ENSP00000317661:R1819Q	R	-	2	0	CACNA1A	13201971	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	7.736000	0.84948	1.968000	0.57251	0.549000	0.68633	CGA		0.597	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
ZNF681	148213	broad.mit.edu	37	19	23927348	23927348	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:23927348T>C	ENST00000402377.3	-	4	1145	c.1004A>G	c.(1003-1005)gAg>gGg	p.E335G	ZNF681_ENST00000395385.3_Missense_Mutation_p.E266G	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTAGGGTTTCTCTCCAGTATG	0.393																																						uc002nrk.3																			0					0						c.(1003-1005)GAG>GGG		zinc finger protein 681							86.0	89.0	88.0					19																	23927348		2203	4298	6501	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927348T>C	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1004A>G	19.37:g.23927348T>C	ENSP00000384000:p.Glu335Gly					ZNF681_uc002nrl.3_Missense_Mutation_p.E266G|ZNF681_uc002nrj.3_Missense_Mutation_p.E266G	p.E335G	NM_138286	NP_612143	Q96N22	ZN681_HUMAN			4	1146	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	335					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1004A>G	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	14.74	2.625218	0.46840	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.27557	1.66;1.66	0.946	0.946	0.19549	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52773	0.1755	M	0.85630	2.765	0.33734	D	0.618595	D	0.89917	1.0	D	0.83275	0.996	T	0.62238	-0.6896	9	0.72032	D	0.01	.	6.0099	0.19569	0.0:0.0:0.0:1.0	.	335	Q96N22	ZN681_HUMAN	G	335;266	ENSP00000384000:E335G;ENSP00000378783:E266G	ENSP00000378783:E266G	E	-	2	0	ZNF681	23719188	0.961000	0.32948	0.046000	0.18839	0.016000	0.09150	2.739000	0.47409	0.663000	0.31027	0.260000	0.18958	GAG		0.393	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286	
CAPNS1	826	broad.mit.edu	37	19	36633602	36633602	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:36633602G>T	ENST00000246533.3	+	4	890	c.292G>T	c.(292-294)Gtc>Ttc	p.V98F	CAPNS1_ENST00000588780.1_Missense_Mutation_p.V98F|CAPNS1_ENST00000590874.1_Intron|CAPNS1_ENST00000589146.1_Intron|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Missense_Mutation_p.V98F|CAPNS1_ENST00000588815.1_Missense_Mutation_p.V98F	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	98	EF-hand 1; atypical. {ECO:0000255|PROSITE-ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAGTGAGGAGGTCCGGCAGTT	0.622																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)	uc002odj.2																			0					0						c.(292-294)GTC>TTC		calpain, small subunit 1							132.0	138.0	136.0					19																	36633602		2203	4300	6503	SO:0001583	missense	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36633602G>T	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.292G>T	19.37:g.36633602G>T	ENSP00000246533:p.Val98Phe					CAPNS1_uc002odi.1_Missense_Mutation_p.V98F|CAPNS1_uc002odk.2_Missense_Mutation_p.V98F|CAPNS1_uc002odl.2_Missense_Mutation_p.V98F	p.V98F	NM_001749	NP_001740	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		4	449	+	Esophageal squamous(110;0.162)		98			EF-hand 1; atypical.		A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	ENST00000246533.3	37	c.292G>T	CCDS12489.1	.	.	.	.	.	.	.	.	.	.	g	19.80	3.894146	0.72639	.	.	ENSG00000126247	ENST00000246533	T	0.43294	0.95	4.73	3.7	0.42460	EF-hand-like domain (1);	0.426406	0.21901	N	0.067445	T	0.44095	0.1277	L	0.39020	1.185	0.80722	D	1	D	0.61080	0.989	P	0.56788	0.806	T	0.38045	-0.9679	10	0.62326	D	0.03	.	7.3452	0.26660	0.1933:0.0:0.8067:0.0	.	98	P04632	CPNS1_HUMAN	F	98	ENSP00000246533:V98F	ENSP00000246533:V98F	V	+	1	0	CAPNS1	41325442	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	3.861000	0.56002	1.340000	0.45581	0.655000	0.94253	GTC		0.622	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2		
CEACAM4	1089	broad.mit.edu	37	19	42132051	42132051	+	Silent	SNP	G	G	A	rs199959927		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:42132051G>A	ENST00000221954.2	-	2	458	c.348C>T	c.(346-348)gaC>gaT	p.D116D	CEACAM4_ENST00000600925.1_Silent_p.D116D	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	116	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						AGGATCCTGCGTCCTCCAGGG	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16611	0.0		0.0	False		,,,				2504	0.0					uc002orh.1																			0					0						c.(346-348)GAC>GAT		carcinoembryonic antigen-related cell adhesion							197.0	170.0	179.0					19																	42132051		2203	4300	6503	SO:0001819	synonymous_variant	1089					integral to plasma membrane|membrane fraction		g.chr19:42132051G>A	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.348C>T	19.37:g.42132051G>A						CEACAM4_uc010xwd.1_Silent_p.D116D	p.D116D	NM_001817	NP_001808	O75871	CEAM4_HUMAN			2	459	-			116			Extracellular (Potential).|Ig-like V-type.		Q03715|Q7LDZ7	Silent	SNP	ENST00000221954.2	37	c.348C>T	CCDS33033.1																																																																																				0.522	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817	
ZNF229	7772	broad.mit.edu	37	19	44933285	44933285	+	Silent	SNP	G	G	A	rs371132127		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:44933285G>A	ENST00000588931.1	-	6	2104	c.1671C>T	c.(1669-1671)tcC>tcT	p.S557S	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Silent_p.S551S	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	557					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGTGGAGGTCGGAGCTCCGGC	0.542																																						uc002oze.1																			0				skin(2)|ovary(1)|pancreas(1)	4						c.(1669-1671)TCC>TCT		zinc finger protein 229		G		0,4372		0,0,2186	67.0	73.0	71.0		1671	-7.0	0.0	19		71	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	ZNF229	NM_014518.2		0,1,6481	AA,AG,GG		0.0116,0.0,0.0077		557/826	44933285	1,12963	2186	4296	6482	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933285G>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1671C>T	19.37:g.44933285G>A						ZNF229_uc010ejk.1_Silent_p.S211S|ZNF229_uc010ejl.1_Silent_p.S551S	p.S557S	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	2105	-		Prostate(69;0.0352)	557			C2H2-type 9.		B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.1671C>T	CCDS42574.1																																																																																				0.542	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518	
CEACAM20	125931	broad.mit.edu	37	19	45021184	45021184	+	RNA	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:45021184C>T	ENST00000454753.1	-	0	1410							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGCTTGGACTCGGCCCAACAC	0.582																																						uc010ejn.1																			0				large_intestine(2)	2						c.(1132-1134)GAG>AAG		carcinoembryonic antigen-related cell adhesion							66.0	66.0	66.0					19																	45021184		2082	4224	6306			125931					integral to membrane		g.chr19:45021184C>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45021184C>T						CEACAM20_uc010ejo.1_Missense_Mutation_p.E378K|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	p.E378K	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN			6	1148	-		Prostate(69;0.0352)	378			Ig-like C2-type 4.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000454753.1	37	c.1132G>A																																																																																					0.582	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444	
LIG1	3978	broad.mit.edu	37	19	48668866	48668866	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs368100309	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:48668866G>A	ENST00000263274.7	-	0	377				LIG1_ENST00000427526.2_De_novo_Start_OutOfFrame|LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000536218.1_De_novo_Start_OutOfFrame	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent						anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	ACTTTTCTTCGTCTGTCAGCT	0.463								Nucleotide excision repair (NER)					G|||	2	0.000399361	0.0015	0.0	5008	,	,		17459	0.0		0.0	False		,,,				2504	0.0					uc002pia.1																			0				large_intestine(2)|lung(1)	3						c.(-44--40)GACGA>GATGA	NER	DNA ligase I	Bleomycin(DB00290)	G		1,4405	2.1+/-5.4	0,1,2202	186.0	148.0	161.0			0.5	0.0	19		161	0,8600		0,0,4300	no	utr-5	LIG1	NM_000234.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077			48668866	1,13005	2203	4300	6503			3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48668866G>A		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.-43C>T	19.37:g.48668866G>A						LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Translation_Start_Site|LIG1_uc010xzg.1_Translation_Start_Site|LIG1_uc010xzh.1_RNA		NM_000234	NP_000225	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	2	78	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)						B2RAI8|Q2TB12|Q32P23	Translation_Start_Site	SNP	ENST00000263274.7	37	c.-42C>T	CCDS12711.1																																																																																				0.463	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234	
LILRB5	10990	broad.mit.edu	37	19	54756388	54756388	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:54756388G>T	ENST00000316219.5	-	10	1603	c.1496C>A	c.(1495-1497)gCt>gAt	p.A499D	LILRB5_ENST00000345866.6_Missense_Mutation_p.A400D|LILRB5_ENST00000450632.1_Missense_Mutation_p.A491D|LILRB5_ENST00000449561.2_Missense_Mutation_p.A500D|CTD-2337J16.1_ENST00000595133.1_lincRNA	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	499					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.A499V(1)|p.A491V(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGCCCCGCAGCCCCTGCAGG	0.607																																						uc002qex.2																			2	Substitution - Missense(2)		endometrium(2)	ovary(1)|pancreas(1)	2						c.(1495-1497)GCT>GAT		leukocyte immunoglobulin-like receptor,							91.0	88.0	89.0					19																	54756388		2203	4300	6503	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54756388G>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1496C>A	19.37:g.54756388G>T	ENSP00000320390:p.Ala499Asp					LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.A491D|LILRB5_uc002qey.2_Missense_Mutation_p.A500D|LILRB5_uc002qez.2_Missense_Mutation_p.A400D|LILRB5_uc002qfa.1_3'UTR	p.A499D	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1607	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		499			Cytoplasmic (Potential).		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1496C>A	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038218	0.35989	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00497	7.06;6.98;7.05;7.03	1.91	0.799	0.18667	.	.	.	.	.	T	0.00875	0.0029	M	0.81942	2.565	0.09310	N	1	D;P;B;P	0.53619	0.961;0.739;0.001;0.583	P;B;B;B	0.49637	0.617;0.305;0.002;0.157	T	0.47799	-0.9089	9	0.87932	D	0	.	5.4444	0.16527	0.0:0.0:0.6687:0.3313	.	491;400;500;499	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	D	499;491;500;400	ENSP00000320390:A499D;ENSP00000414225:A491D;ENSP00000406478:A500D;ENSP00000263430:A400D	ENSP00000320390:A499D	A	-	2	0	LILRB5	59448200	0.000000	0.05858	0.019000	0.16419	0.008000	0.06430	-0.142000	0.10311	0.321000	0.23259	0.460000	0.39030	GCT		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2		
LENG8	114823	broad.mit.edu	37	19	54967619	54967619	+	Silent	SNP	C	C	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:54967619C>A	ENST00000326764.5	+	10	1899	c.1420C>A	c.(1420-1422)Cga>Aga	p.R474R	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	437										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGATCGGGGCCGAGGCAGGGC	0.682																																						uc002qfv.1																			0				central_nervous_system(1)|pancreas(1)	2						c.(1309-1311)CGA>AGA		RecName: Full=Leukocyte receptor cluster member 8;							26.0	32.0	30.0					19																	54967619		2201	4299	6500	SO:0001819	synonymous_variant	114823						protein binding	g.chr19:54967619C>A	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1420C>A	19.37:g.54967619C>A						LENG8_uc002qfw.2_Silent_p.R474R	p.R437R			Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	9	1453	+	Ovarian(34;0.19)		437					B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	ENST00000326764.5	37	c.1309C>A	CCDS12894.1																																																																																				0.682	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925	
LILRB1	10859	broad.mit.edu	37	19	55146733	55146733	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:55146733A>G	ENST00000396331.1	+	13	1940	c.1583A>G	c.(1582-1584)cAg>cGg	p.Q528R	LILRB1_ENST00000434867.2_Missense_Mutation_p.Q528R|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Missense_Mutation_p.Q528R|LILRB1_ENST00000396327.3_Missense_Mutation_p.Q529R|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q529R|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q512R|LILRB1_ENST00000448689.1_Missense_Mutation_p.R503G|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q529R|LILRB1_ENST00000396321.2_Missense_Mutation_p.Q528R|LILRB1_ENST00000427581.2_Missense_Mutation_p.Q578R|LILRB1_ENST00000396317.1_Missense_Mutation_p.Q512R	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	528					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCCGATGCCCAGGAAGAAAAC	0.612										HNSCC(37;0.09)																												uc002qgj.2																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1582-1584)CAG>CGG		leukocyte immunoglobulin-like receptor,							64.0	71.0	69.0					19																	55146733		2203	4299	6502	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146733A>G	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1583A>G	19.37:g.55146733A>G	ENSP00000379622:p.Gln528Arg	HNSCC(37;0.09)				LILRB1_uc010erp.1_Missense_Mutation_p.Q143R|LILRB1_uc002qgl.2_Missense_Mutation_p.Q528R|LILRB1_uc002qgk.2_Missense_Mutation_p.Q529R|LILRB1_uc002qgm.2_Missense_Mutation_p.Q529R|LILRB1_uc010erq.2_Missense_Mutation_p.Q512R|LILRB1_uc010err.2_RNA	p.Q528R	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	13	1923	+			528			Cytoplasmic (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1583A>G	CCDS42617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.618|8.618	0.890760|0.890760	0.17613|0.17613	.|.	.|.	ENSG00000104972|ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315|ENST00000448689	T;T;T;T;T;T;T;T;T;T|T	0.00515|0.00538	7.03;6.91;7.03;6.97;6.91;7.03;7.03;6.87;6.91;6.91|6.71	1.35|1.35	1.35|1.35	0.21983|0.21983	.|.	.|.	.|.	.|.	.|.	T|T	0.00906|0.00906	0.0030|0.0030	M|M	0.77313|0.77313	2.365|2.365	0.09310|0.09310	N|N	1|1	B;B;P;B;D;P|.	0.55800|.	0.024;0.01;0.911;0.382;0.973;0.856|.	B;B;P;B;P;B|.	0.51385|.	0.017;0.005;0.549;0.133;0.668;0.347|.	T|T	0.39800|0.39800	-0.9596|-0.9596	9|7	0.72032|0.27082	D|T	0.01|0.32	.|.	4.8162|4.8162	0.13367|0.13367	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	512;528;529;528;529;528|.	A8MVE2;D9IDM5;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6|.	.;.;.;.;.;LIRB1_HUMAN|.	R|G	528;512;528;529;529;528;528;578;512;529|503	ENSP00000379614:Q528R;ENSP00000391514:Q512R;ENSP00000379622:Q528R;ENSP00000379618:Q529R;ENSP00000315997:Q529R;ENSP00000405243:Q528R;ENSP00000379623:Q528R;ENSP00000395004:Q578R;ENSP00000379610:Q512R;ENSP00000379608:Q529R|ENSP00000409968:R503G	ENSP00000315997:Q529R|ENSP00000410165:R503G	Q|R	+|+	2|1	0|2	LILRB1|LILRB1	59838545|59838545	0.274000|0.274000	0.24191|0.24191	0.029000|0.029000	0.17559|0.17559	0.058000|0.058000	0.15608|0.15608	0.279000|0.279000	0.18771|0.18771	0.864000|0.864000	0.35578|0.35578	0.172000|0.172000	0.16884|0.16884	CAG|AGG		0.612	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		
GALP	85569	broad.mit.edu	37	19	56691958	56691958	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:56691958C>T	ENST00000357330.2	+	3	173	c.91C>T	c.(91-93)Cga>Tga	p.R31*	GALP_ENST00000590002.1_Intron|GALP_ENST00000440823.1_Intron	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	31					behavioral response to starvation (GO:0042595)|defense response to bacterium (GO:0042742)|neuropeptide signaling pathway (GO:0007218)|regulation of appetite (GO:0032098)|response to insulin (GO:0032868)	extracellular region (GO:0005576)				lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TATCCAGGGACGAGGAGGCTG	0.602																																						uc002qmo.1																			0					0						c.(91-93)CGA>TGA		galanin-like peptide isoform 1 precursor							119.0	94.0	103.0					19																	56691958		2203	4300	6503	SO:0001587	stop_gained	85569				neuropeptide signaling pathway	extracellular region	hormone activity	g.chr19:56691958C>T	AF188493	CCDS12940.1, CCDS46202.1	19q13.42	2013-02-26	2007-08-24			ENSG00000197487		"""Endogenous ligands"""	24840	protein-coding gene	gene with protein product		611178				10601261	Standard	NM_033106		Approved		uc002qmo.1	Q9UBC7		ENST00000357330.2:c.91C>T	19.37:g.56691958C>T	ENSP00000349884:p.Arg31*					GALP_uc010eti.2_Intron	p.R31*	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN		GBM - Glioblastoma multiforme(193;0.0507)	3	173	+		Colorectal(82;0.000147)|Ovarian(87;0.243)	31					A1KXL3	Nonsense_Mutation	SNP	ENST00000357330.2	37	c.91C>T	CCDS12940.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365630	0.61513	.	.	ENSG00000197487	ENST00000357330	.	.	.	2.08	0.975	0.19721	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5434	5.6837	0.17790	0.3208:0.6792:0.0:0.0	.	.	.	.	X	31	.	ENSP00000349884:R31X	R	+	1	2	GALP	61383770	0.988000	0.35896	0.060000	0.19600	0.299000	0.27559	1.335000	0.33839	0.406000	0.25560	0.585000	0.79938	CGA		0.602	GALP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457832.1	NM_033106	
APOB	338	broad.mit.edu	37	2	21235218	21235218	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:21235218C>T	ENST00000233242.1	-	26	4649	c.4522G>A	c.(4522-4524)Gat>Aat	p.D1508N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1508					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGTTAGGATCCCTCTGACAA	0.458																																						uc002red.2																			0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(4522-4524)GAT>AAT		apolipoprotein B precursor	Atorvastatin(DB01076)						134.0	129.0	131.0					2																	21235218		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21235218C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4522G>A	2.37:g.21235218C>T	ENSP00000233242:p.Asp1508Asn						p.D1508N	NM_000384	NP_000375	P04114	APOB_HUMAN			26	4650	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1508					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.4522G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291447	0.23564	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00691	5.84	5.88	5.01	0.66863	.	0.096384	0.45126	D	0.000387	T	0.00754	0.0025	L	0.27053	0.805	0.29258	N	0.871525	B	0.18461	0.028	B	0.13407	0.009	T	0.37709	-0.9694	10	0.15066	T	0.55	.	11.5054	0.50463	0.0:0.8466:0.0:0.1534	.	1508	P04114	APOB_HUMAN	N	1508	ENSP00000233242:D1508N	ENSP00000233242:D1508N	D	-	1	0	APOB	21088723	0.525000	0.26290	0.737000	0.30932	0.306000	0.27790	0.987000	0.29603	1.495000	0.48549	0.655000	0.94253	GAT		0.458	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
GPR113	165082	broad.mit.edu	37	2	26533656	26533656	+	Silent	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:26533656G>T	ENST00000311519.1	-	11	2939	c.2940C>A	c.(2938-2940)ccC>ccA	p.P980P	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Silent_p.P781P|GPR113_ENST00000541401.1_Silent_p.P583P|GPR113_ENST00000421160.2_Silent_p.P911P	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	980					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCAAAGATGGGTGTAAGAA	0.572																																						uc002rhe.3																			0				ovary(4)	4						c.(2938-2940)CCC>CCA		G-protein coupled receptor 113 isoform 1							36.0	34.0	35.0					2																	26533656		2203	4300	6503	SO:0001819	synonymous_variant	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26533656G>T	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2940C>A	2.37:g.26533656G>T						GPR113_uc010yky.1_Silent_p.P911P|GPR113_uc002rhb.1_Silent_p.P583P|GPR113_uc010eyk.1_Silent_p.P781P|GPR113_uc002rhc.1_Silent_p.P583P|GPR113_uc002rhd.1_RNA	p.P980P	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN			11	2940	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		980			Helical; Name=6; (Potential).		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	ENST00000311519.1	37	c.2940C>A	CCDS46239.1																																																																																				0.572	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835	
NBEAL1	65065	broad.mit.edu	37	2	204002914	204002914	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:204002914T>C	ENST00000449802.1	+	29	4841	c.4508T>C	c.(4507-4509)aTc>aCc	p.I1503T		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1503										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAATGGGCAATCTCAGAAAAC	0.373																																						uc002uzt.3																			0				ovary(1)|skin(1)	2						c.(4507-4509)ATC>ACC		neurobeachin-like 1 isoform 3							84.0	75.0	78.0					2																	204002914		1849	4095	5944	SO:0001583	missense	65065						binding	g.chr2:204002914T>C	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4508T>C	2.37:g.204002914T>C	ENSP00000399903:p.Ile1503Thr					NBEAL1_uc002uzs.3_Missense_Mutation_p.I213T	p.I1503T	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN			29	4841	+			1503					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.4508T>C	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.179246	0.57800	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.54479	0.57	5.61	5.61	0.85477	.	1.334980	0.04496	N	0.380472	T	0.45377	0.1339	N	0.14661	0.345	0.31560	N	0.657621	B;B	0.12630	0.006;0.006	B;B	0.14023	0.01;0.01	T	0.36720	-0.9736	10	0.72032	D	0.01	.	15.4709	0.75439	0.0:0.0:0.0:1.0	.	1503;1492	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	T	1503	ENSP00000399903:I1503T	ENSP00000344985:I1503T	I	+	2	0	NBEAL1	203711159	1.000000	0.71417	0.978000	0.43139	0.942000	0.58702	7.339000	0.79282	2.141000	0.66446	0.533000	0.62120	ATC		0.373	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		
MARCH4	57574	broad.mit.edu	37	2	217234886	217234886	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:217234886C>T	ENST00000273067.4	-	1	1864	c.98G>A	c.(97-99)cGc>cAc	p.R33H		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	33						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		ACCCTGGTGGCGCAACATCTG	0.632																																						uc002vgb.2																			0				ovary(1)	1						c.(97-99)CGC>CAC		membrane-associated ring finger (C3HC4) 4							17.0	20.0	19.0					2																	217234886		2201	4296	6497	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217234886C>T	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.98G>A	2.37:g.217234886C>T	ENSP00000273067:p.Arg33His						p.R33H	NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	1	1865	-		Renal(323;0.0854)	33					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.98G>A	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.683169	0.68157	.	.	ENSG00000144583	ENST00000273067	T	0.21191	2.02	5.24	3.46	0.39613	.	0.478369	0.24472	N	0.038224	T	0.15609	0.0376	L	0.29908	0.895	0.50813	D	0.999898	B	0.12013	0.005	B	0.09377	0.004	T	0.04242	-1.0966	10	0.87932	D	0	-19.621	9.9721	0.41761	0.0:0.7738:0.0:0.2262	.	33	Q9P2E8	MARH4_HUMAN	H	33	ENSP00000273067:R33H	ENSP00000273067:R33H	R	-	2	0	MARCH4	216943131	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.162000	0.58177	0.799000	0.34018	-0.229000	0.12294	CGC		0.632	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814	
UGT1A1	54658	broad.mit.edu	37	2	234526363	234526363	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:234526363A>G	ENST00000373450.4	+	1	73	c.10A>G	c.(10-12)Aca>Gca	p.T4A		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	0					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.T4A(3)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CATGGCTCGCACAGGGTGGAC	0.562																																						uc002vup.2																			3	Substitution - Missense(3)		prostate(1)|lung(1)|kidney(1)	ovary(2)	2						c.(10-12)ACA>GCA		UDP glycosyltransferase 1 family, polypeptide A8							61.0	53.0	56.0					2																	234526363		2203	4300	6503	SO:0001583	missense	54576				drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding	g.chr2:234526363A>G	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.10A>G	2.37:g.234526363A>G	ENSP00000362549:p.Thr4Ala					UGT1A8_uc010zmv.1_Missense_Mutation_p.T4A	p.T4A	NM_019076	NP_061949	Q9HAW9	UD18_HUMAN		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	73	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	4					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.10A>G	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	A	1.349	-0.591910	0.03799	.	.	ENSG00000242366	ENST00000373450	T	0.57273	0.41	3.96	-1.46	0.08800	.	.	.	.	.	T	0.20577	0.0495	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27331	-1.0077	9	0.06891	T	0.86	.	5.6018	0.17357	0.3817:0.1909:0.4274:0.0	.	4;4	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	A	4	ENSP00000362549:T4A	ENSP00000362549:T4A	T	+	1	0	UGT1A8	234191102	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.041000	0.13927	-0.096000	0.12329	-1.318000	0.01297	ACA		0.562	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1		
SPP2	6694	broad.mit.edu	37	2	234959451	234959451	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:234959451G>A	ENST00000168148.3	+	1	109	c.21G>A	c.(19-21)aaG>aaA	p.K7K	SPP2_ENST00000373368.1_Silent_p.K7K	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	7					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GAATGGAGAAGATGACGATGA	0.423																																						uc002vvk.1																			0					0						c.(19-21)AAG>AAA		secreted phosphoprotein 2, 24kDa precursor							262.0	234.0	243.0					2																	234959451		2203	4300	6503	SO:0001819	synonymous_variant	6694				bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	g.chr2:234959451G>A		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.21G>A	2.37:g.234959451G>A						SPP2_uc010fyl.1_5'UTR	p.K7K	NM_006944	NP_008875	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	1	106	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	7					A4QMV3|Q3B892|Q546M5	Silent	SNP	ENST00000168148.3	37	c.21G>A	CCDS2511.1																																																																																				0.423	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944	
SDC4	6385	broad.mit.edu	37	20	43977015	43977016	+	Frame_Shift_Ins	INS	-	-	G	rs532007204	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr20:43977015_43977016insG	ENST00000372733.3	-	1	48_49	c.9_10insC	c.(7-12)cccgccfs	p.A4fs	SDC4_ENST00000537976.1_5'UTR	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	4					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				AACAGACGGGCGGGGGCCATGG	0.752			T	ROS1	NSCLC																																	uc002xnu.2				Dom	yes		20	20q12	6385		syndecan 4			E					0					0						c.(7-12)CCCGCCfs		syndecan 4 precursor																																				SO:0001589	frameshift_variant	6385					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	g.chr20:43977015_43977016insG	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"""Proteoglycans / Cell Surface : Syndecans"""	10661	protein-coding gene	gene with protein product	"""syndecan proteoglycan 4"""	600017	"""syndecan 4 (amphiglycan, ryudocan)"""			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.10dupC	20.37:g.43977020_43977020dupG	ENSP00000361818:p.Ala4fs					SDC4_uc010zws.1_5'UTR	p.P3fs	NM_002999	NP_002990	P31431	SDC4_HUMAN			1	49_50	-		Myeloproliferative disorder(115;0.0122)	3_4					O00773|Q16833|Q53FN9|Q6FGN3	Frame_Shift_Ins	INS	ENST00000372733.3	37	c.9_10insC	CCDS13350.1																																																																																				0.752	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999	
PARD6B	84612	broad.mit.edu	37	20	49366649	49366649	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr20:49366649C>T	ENST00000371610.2	+	3	986	c.743C>T	c.(742-744)cCg>cTg	p.P248L	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	248	Interaction with PARD3 and CDC42. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ACAGTGAGACCGGCAAACCAG	0.443																																						uc002xvo.2																			0				kidney(1)	1						c.(742-744)CCG>CTG		PAR-6 beta							129.0	124.0	125.0					20																	49366649		2203	4300	6503	SO:0001583	missense	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49366649C>T	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"""par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)"""			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.743C>T	20.37:g.49366649C>T	ENSP00000360672:p.Pro248Leu						p.P248L	NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN			3	986	+			248			PDZ.|Interaction with PARD3 and CDC42 (By similarity).		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	37	c.743C>T	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	C	31	5.068220	0.93950	.	.	ENSG00000124171	ENST00000371610	T	0.20200	2.09	6.02	6.02	0.97574	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.62024	0.2394	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71354	-0.4618	10	0.87932	D	0	-22.0075	20.5407	0.99260	0.0:1.0:0.0:0.0	.	248	Q9BYG5	PAR6B_HUMAN	L	248	ENSP00000360672:P248L	ENSP00000360672:P248L	P	+	2	0	PARD6B	48800056	1.000000	0.71417	0.226000	0.23910	0.962000	0.63368	7.416000	0.80143	2.865000	0.98341	0.655000	0.94253	CCG		0.443	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521	
RTEL1	51750	broad.mit.edu	37	20	62316891	62316891	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr20:62316891G>A	ENST00000360203.5	+	15	1532	c.1207G>A	c.(1207-1209)Gac>Aac	p.D403N	RTEL1_ENST00000318100.4_Missense_Mutation_p.D403N|RTEL1_ENST00000508582.2_Missense_Mutation_p.D427N|RTEL1_ENST00000370018.3_Missense_Mutation_p.D403N|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.D403N					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GTTCAGTGTGGACCCCTCCGA	0.627																																						uc002yfu.1																			0					0						c.(1207-1209)GAC>AAC		regulator of telomere elongation helicase 1							41.0	44.0	43.0					20																	62316891		2198	4293	6491	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62316891G>A	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.1207G>A	20.37:g.62316891G>A	ENSP00000353332:p.Asp403Asn					RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.D403N|RTEL1_uc011abd.1_Missense_Mutation_p.D427N|RTEL1_uc011abe.1_Missense_Mutation_p.D180N|RTEL1_uc002yfw.2_RNA	p.D403N	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		15	1550	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		403						Missense_Mutation	SNP	ENST00000360203.5	37	c.1207G>A		.	.	.	.	.	.	.	.	.	.	G	12.26	1.885372	0.33255	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203	D;D;D;D	0.82255	-1.56;-1.59;-1.52;-1.57	4.43	4.43	0.53597	.	0.302324	0.35207	N	0.003378	D	0.87370	0.6160	L	0.61036	1.89	0.09310	N	1	P;B;B	0.52170	0.951;0.049;0.082	P;B;B	0.56612	0.802;0.028;0.059	T	0.80843	-0.1201	10	0.40728	T	0.16	-14.9662	16.6393	0.85068	0.0:0.0:1.0:0.0	.	427;403;403	Q9NZ71-7;Q9NZ71;Q9NZ71-6	.;RTEL1_HUMAN;.	N	403;403;427;403	ENSP00000359035:D403N;ENSP00000322287:D403N;ENSP00000424307:D427N;ENSP00000353332:D403N	ENSP00000353332:D403N	D	+	1	0	AL353715.1	61787335	0.563000	0.26594	0.062000	0.19696	0.039000	0.13416	2.793000	0.47845	2.017000	0.59298	0.491000	0.48974	GAC		0.627	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957	
TXNRD2	10587	broad.mit.edu	37	22	19870868	19870868	+	Missense_Mutation	SNP	C	C	T	rs576244023	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr22:19870868C>T	ENST00000400521.1	-	12	1072	c.1066G>A	c.(1066-1068)Gcc>Acc	p.A356T	TXNRD2_ENST00000535882.1_Missense_Mutation_p.A355T|TXNRD2_ENST00000400518.1_Missense_Mutation_p.A326T|TXNRD2_ENST00000542719.1_Missense_Mutation_p.A326T|TXNRD2_ENST00000400519.1_Missense_Mutation_p.A355T	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	356					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCACCAATGGCGTAGATGTGG	0.647													C|||	4	0.000798722	0.0	0.0	5008	,	,		16868	0.0		0.0	False		,,,				2504	0.0041					uc011ahc.1																			0				ovary(2)	2						c.(1066-1068)GCC>ACC		thioredoxin reductase 2 precursor							92.0	105.0	101.0					22																	19870868		2066	4206	6272	SO:0001583	missense	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19870868C>T	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1066G>A	22.37:g.19870868C>T	ENSP00000383365:p.Ala356Thr					TXNRD2_uc002zql.1_Missense_Mutation_p.A110T|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Missense_Mutation_p.A355T|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_5'Flank	p.A356T	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN			12	1099	-	Colorectal(54;0.0993)		356					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	c.1066G>A	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288432	0.80803	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01	5.07	5.07	0.68467	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.058133	0.64402	D	0.000002	D	0.87625	0.6224	H	0.99273	4.495	0.80722	D	1	D;D	0.89917	1.0;1.0	P;P	0.62885	0.908;0.908	D	0.93015	0.6435	10	0.72032	D	0.01	-21.6263	18.8357	0.92162	0.0:1.0:0.0:0.0	.	356;355	Q9NNW7;D3YTF9	TRXR2_HUMAN;.	T	326;356;356;333;260;355;355;326	ENSP00000383362:A326T;ENSP00000383365:A356T;ENSP00000383369:A333T;ENSP00000383363:A355T;ENSP00000439314:A355T;ENSP00000439570:A326T	ENSP00000383362:A326T	A	-	1	0	TXNRD2	18250868	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	6.791000	0.75120	2.515000	0.84797	0.563000	0.77884	GCC		0.647	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440	
ARPC4	10093	broad.mit.edu	37	3	9839460	9839463	+	Splice_Site	DEL	AGGT	AGGT	-			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr3:9839460_9839463delAGGT	ENST00000397261.3	+	2	685_686	c.121_122delAGGT	c.(121-123)agg>g	p.R41fs	ARPC4_ENST00000287613.7_5'UTR|ARPC4_ENST00000433034.1_Splice_Site_p.R60fs|ARPC4-TTLL3_ENST00000397256.1_Splice_Site_p.R41fs|ARPC4_ENST00000498623.2_5'UTR	NM_005718.4	NP_005709.1	P59998	ARPC4_HUMAN	actin related protein 2/3 complex, subunit 4, 20kDa	41					actin filament polymerization (GO:0030041)|actin nucleation (GO:0045010)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					AGTGGAAGTCAGGTAGGGAAGGAC	0.564																																						uc003btd.3																			0				large_intestine(2)	2						c.e1+1		RecName: Full=Tubulin--tyrosine ligase-like protein 3; AltName: Full=HOTTL;																																				SO:0001630	splice_region_variant	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9839460_9839463delAGGT	AF019888	CCDS43047.1, CCDS46743.1, CCDS56238.1	3p25	2011-07-06	2002-08-29		ENSG00000241553	ENSG00000241553		"""Actin related protein 2/3 complex subunits"""	707	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p20"", ""actin related protein 2/3 complex, subunit 4 (20 kD)"""	604226	"""actin related protein 2/3 complex, subunit 4 (20 kD)"""			9230079, 9359840	Standard	NM_005718		Approved	p20-Arc, ARC20		P59998	OTTHUMG00000133768	ENST00000397261.3:c.122+1AGGT>-	3.37:g.9839460_9839463delAGGT						ARPC4_uc003bsz.1_Splice_Site_p.R41_splice|ARPC4_uc003bta.1_Splice_Site|ARPC4_uc003btb.1_Splice_Site|ARPC4_uc003btc.1_Splice_Site				Q9Y4R7	TTLL3_HUMAN			1	119	+	Medulloblastoma(99;0.227)							C9JWM7|E7ETI0|F6TTL5|O15509|Q6P0W5|Q96QJ3	Splice_Site	DEL	ENST00000397261.3	37	c.-160_splice	CCDS43047.1																																																																																				0.564	ARPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258275.2	NM_001024959	Frame_Shift_Del
GUCA1C	9626	broad.mit.edu	37	3	108627021	108627021	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr3:108627021C>A	ENST00000261047.3	-	4	610	c.478G>T	c.(478-480)Gca>Tca	p.A160S	GUCA1C_ENST00000393963.3_Missense_Mutation_p.G173V	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	160	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TGATCTTTTGCCATGCCATTG	0.398																																					NSCLC(157;1360 1999 30631 40189 44208)	uc003dxj.2																			0					0						c.(478-480)GCA>TCA		guanylate cyclase activator 1C							86.0	83.0	84.0					3																	108627021		2203	4300	6503	SO:0001583	missense	9626				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr3:108627021C>A	AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"""EF-hand domain containing"""	4680	protein-coding gene	gene with protein product	"""guanylyl cyclase-activating protein 3"""	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.478G>T	3.37:g.108627021C>A	ENSP00000261047:p.Ala160Ser					GUCA1C_uc003dxk.2_Missense_Mutation_p.G173V	p.A160S	NM_005459	NP_005450	O95843	GUC1C_HUMAN			4	546	-			160			EF-hand 4.		O95844|Q9UNM0	Missense_Mutation	SNP	ENST00000261047.3	37	c.478G>T	CCDS2954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.239|8.239	0.806308|0.806308	0.16467|0.16467	.|.	.|.	ENSG00000138472|ENSG00000138472	ENST00000261047|ENST00000393963	T|T	0.66280|0.71698	-0.2|-0.59	5.67|5.67	2.58|2.58	0.30949|0.30949	EF-hand-like domain (1);|.	0.547980|.	0.21017|.	N|.	0.081581|.	T|T	0.40015|0.40015	0.1100|0.1100	N|N	0.02202|0.02202	-0.64|-0.64	0.09310|0.09310	N|N	1|1	B|B	0.10296|0.30455	0.003|0.28	B|B	0.10450|0.23852	0.005|0.049	T|T	0.21314|0.21314	-1.0249|-1.0249	10|9	0.56958|0.20519	D|T	0.05|0.43	.|.	8.1877|8.1877	0.31348|0.31348	0.0:0.7019:0.0:0.2981|0.0:0.7019:0.0:0.2981	.|.	160|173	O95843|C9JNI2	GUC1C_HUMAN|.	S|V	160|173	ENSP00000261047:A160S|ENSP00000377535:G173V	ENSP00000261047:A160S|ENSP00000377535:G173V	A|G	-|-	1|2	0|0	GUCA1C|GUCA1C	110109711|110109711	0.082000|0.082000	0.21442|0.21442	0.000000|0.000000	0.03702|0.03702	0.293000|0.293000	0.27360|0.27360	0.906000|0.906000	0.28517|0.28517	0.207000|0.207000	0.20607|0.20607	0.563000|0.563000	0.77884|0.77884	GCA|GGC		0.398	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353819.1	NM_005459	
ABHD10	55347	broad.mit.edu	37	3	111697949	111697949	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr3:111697949C>T	ENST00000273359.3	+	1	68	c.41C>T	c.(40-42)cCt>cTt	p.P14L	ABHD10_ENST00000494817.1_Missense_Mutation_p.P14L|ABHD10_ENST00000534857.1_5'UTR	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	14					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						GCCTGGGTACCTTGTCGGAGC	0.682																																						uc003dyk.3																			0					0						c.(40-42)CCT>CTT		abhydrolase domain containing 10 precursor							40.0	42.0	41.0					3																	111697949		2202	4300	6502	SO:0001583	missense	55347					mitochondrion	serine-type peptidase activity	g.chr3:111697949C>T	AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"""Abhydrolase domain containing"""	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.41C>T	3.37:g.111697949C>T	ENSP00000273359:p.Pro14Leu					ABHD10_uc011bhq.1_5'UTR	p.P14L	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN			1	122	+			14					B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	ENST00000273359.3	37	c.41C>T	CCDS2963.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996335	0.54147	.	.	ENSG00000144827	ENST00000273359;ENST00000494817	T	0.39997	1.05	4.63	4.63	0.57726	.	0.282117	0.25701	N	0.028865	T	0.41534	0.1163	M	0.65975	2.015	0.80722	D	1	P	0.44241	0.829	B	0.38562	0.276	T	0.48175	-0.9058	10	0.62326	D	0.03	-6.1308	13.3096	0.60371	0.0:1.0:0.0:0.0	.	14	Q9NUJ1	ABHDA_HUMAN	L	14	ENSP00000273359:P14L	ENSP00000273359:P14L	P	+	2	0	ABHD10	113180639	0.009000	0.17119	0.028000	0.17463	0.008000	0.06430	1.156000	0.31712	2.865000	0.98341	0.655000	0.94253	CCT		0.682	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394	
AFAP1	60312	broad.mit.edu	37	4	7802222	7802222	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:7802222G>A	ENST00000360265.4	-	9	1447	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y	AFAP1_ENST00000382543.3_Missense_Mutation_p.H405Y|AFAP1_ENST00000513842.1_5'Flank|AFAP1_ENST00000420658.1_Missense_Mutation_p.H405Y|AFAP1_ENST00000358461.2_Missense_Mutation_p.H405Y			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	405	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GTCAGAGGATGTTTAGAATCC	0.547																																						uc003gkg.1																			0					0						c.(1213-1215)CAT>TAT		actin filament associated protein 1							117.0	102.0	107.0					4																	7802222		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7802222G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1213C>T	4.37:g.7802222G>A	ENSP00000353402:p.His405Tyr					AFAP1_uc011bwk.1_Missense_Mutation_p.H405Y	p.H405Y	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN			10	1486	-			405			PH 2.		A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.1213C>T	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442479	0.63067	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	5.0	5.0	0.66597	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.989	T	0.52525	-0.8564	10	0.87932	D	0	-29.9174	18.3126	0.90206	0.0:0.0:1.0:0.0	.	405;405	E9PDT7;Q8N556	.;AFAP1_HUMAN	Y	405	ENSP00000353402:H405Y;ENSP00000410689:H405Y;ENSP00000351245:H405Y;ENSP00000371983:H405Y	ENSP00000351245:H405Y	H	-	1	0	AFAP1	7853122	1.000000	0.71417	0.976000	0.42696	0.015000	0.08874	9.182000	0.94881	2.324000	0.78689	0.467000	0.42956	CAT		0.547	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638	
ZGRF1	55345	broad.mit.edu	37	4	113510967	113510968	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:113510967_113510968delTT	ENST00000505019.1	-	11	3164_3165	c.3039_3040delAA	c.(3037-3042)tcaagafs	p.R1014fs	C4orf21_ENST00000309071.5_Frame_Shift_Del_p.R1014fs	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1014						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCTTCATCTCTTGAGTTCAAAG	0.391																																						uc003iau.2																			0					0						c.(3037-3042)TCAAGAfs		prematurely terminated mRNA decay factor-like																																				SO:0001589	frameshift_variant	55345					integral to membrane	zinc ion binding	g.chr4:113510967_113510968delTT																												ENST00000505019.1:c.3039_3040delAA	4.37:g.113510967_113510968delTT	ENSP00000424737:p.Arg1014fs					C4orf21_uc003iav.2_5'Flank|C4orf21_uc003iaw.2_Frame_Shift_Del_p.S1013fs	p.S1013fs	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	11	3250_3251	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Frame_Shift_Del	DEL	ENST00000505019.1	37	c.3039_3040delAA																																																																																					0.391	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1		
LRAT	9227	broad.mit.edu	37	4	155670163	155670163	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:155670163C>T	ENST00000336356.3	+	3	821	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	LRAT_ENST00000507827.1_Missense_Mutation_p.R190C	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	190					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GATAATTATTCGTGATCAGAG	0.373																																						uc003iom.1																			0				central_nervous_system(1)	1						c.(568-570)CGT>TGT		lecithin retinol acyltransferase	Vitamin A(DB00162)						191.0	171.0	178.0					4																	155670163		2203	4300	6503	SO:0001583	missense	9227				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	g.chr4:155670163C>T	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.568C>T	4.37:g.155670163C>T	ENSP00000337224:p.Arg190Cys					LRAT_uc003ion.1_Missense_Mutation_p.R190C	p.R190C	NM_004744	NP_004735	O95237	LRAT_HUMAN			2	895	+	all_hematologic(180;0.215)	Renal(120;0.0458)	190			Cytoplasmic (By similarity).		A8K983|Q8N716	Missense_Mutation	SNP	ENST00000336356.3	37	c.568C>T	CCDS3789.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270917	0.59540	.	.	ENSG00000121207	ENST00000507827;ENST00000336356	T;T	0.47177	0.85;0.85	5.95	5.95	0.96441	.	0.104173	0.64402	D	0.000003	T	0.44746	0.1308	L	0.49126	1.545	0.58432	D	0.999999	B	0.32188	0.359	B	0.24269	0.052	T	0.28235	-1.0050	10	0.35671	T	0.21	-43.8021	20.3812	0.98933	0.0:1.0:0.0:0.0	.	190	O95237	LRAT_HUMAN	C	190	ENSP00000426761:R190C;ENSP00000337224:R190C	ENSP00000337224:R190C	R	+	1	0	LRAT	155889613	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.607000	0.67648	2.821000	0.97095	0.650000	0.86243	CGT		0.373	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744	
MARCH1	55016	broad.mit.edu	37	4	165118645	165118645	+	Intron	SNP	T	T	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:165118645T>A	ENST00000503008.1	-	2	864				MARCH1_ENST00000508725.1_Intron|MARCH1_ENST00000514618.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAGGCCCCCTGAGACTCTTA	0.403																																						uc011cjk.1																			0					0						c.(217-219)TCA>TCT		acidic nuclear phosphoprotein 32C							123.0	124.0	124.0					4																	165118645		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118645T>A	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85831A>T	4.37:g.165118645T>A						MARCH1_uc003iqs.1_Intron	p.S73S	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	219	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	73			LRR 2.		D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	c.219A>T	CCDS54814.1																																																																																				0.403	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923	
TRIML1	339976	broad.mit.edu	37	4	189068289	189068289	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:189068289G>T	ENST00000332517.3	+	6	1310	c.1170G>T	c.(1168-1170)tgG>tgT	p.W390C	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	390	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ACAGCCTCTGGGTCTCGTCAC	0.488																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			0				ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(1168-1170)TGG>TGT		tripartite motif family-like 1							136.0	125.0	129.0					4																	189068289		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068289G>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1170G>T	4.37:g.189068289G>T	ENSP00000327738:p.Trp390Cys					TRIML1_uc003izn.1_Missense_Mutation_p.W114C	p.W390C	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1285	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	390			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.1170G>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	g	9.311	1.055480	0.19907	.	.	ENSG00000184108	ENST00000332517	T	0.61980	0.06	4.88	4.03	0.46877	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.49305	D	0.000143	T	0.68375	0.2994	L	0.48362	1.52	0.51012	D	0.999908	D	0.76494	0.999	D	0.65443	0.935	T	0.64449	-0.6405	10	0.35671	T	0.21	-15.5235	11.0677	0.47985	0.0918:0.0:0.9082:0.0	.	390	Q8N9V2	TRIML_HUMAN	C	390	ENSP00000327738:W390C	ENSP00000327738:W390C	W	+	3	0	TRIML1	189305283	0.939000	0.31865	1.000000	0.80357	0.026000	0.11368	1.851000	0.39338	2.740000	0.93945	0.537000	0.68136	TGG		0.488	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556	
CDH9	1007	broad.mit.edu	37	5	26902711	26902711	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:26902711T>A	ENST00000231021.4	-	7	1299	c.1127A>T	c.(1126-1128)gAt>gTt	p.D376V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	376	Cadherin 3. {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)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTCATCTATATCTTCCACAGA	0.408																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1126-1128)GAT>GTT		cadherin 9, type 2 preproprotein							132.0	127.0	128.0					5																	26902711		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26902711T>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1127A>T	5.37:g.26902711T>A	ENSP00000231021:p.Asp376Val						p.D376V	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			7	1296	-			376			Cadherin 3.|Extracellular (Potential).		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1127A>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489635	0.84962	.	.	ENSG00000113100	ENST00000231021	T	0.69175	-0.38	5.62	5.62	0.85841	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.89143	0.6631	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93263	0.6645	9	.	.	.	.	14.6446	0.68751	0.0:0.0:0.0:1.0	.	376	Q9ULB4	CADH9_HUMAN	V	376	ENSP00000231021:D376V	.	D	-	2	0	CDH9	26938468	1.000000	0.71417	0.942000	0.38095	0.980000	0.70556	7.671000	0.83941	2.139000	0.66308	0.528000	0.53228	GAT		0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
LHFPL2	10184	broad.mit.edu	37	5	77805969	77805969	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:77805969G>A	ENST00000515007.2	-	2	378	c.68C>T	c.(67-69)gCc>gTc	p.A23V	LHFPL2_ENST00000380345.2_Missense_Mutation_p.A23V			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	23						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		AATGAGCTCGGCAAAAGCCAC	0.617																																						uc003kfo.2																			0					0						c.(67-69)GCC>GTC		lipoma HMGIC fusion partner-like 2							35.0	40.0	38.0					5																	77805969		2176	4295	6471	SO:0001583	missense	10184					integral to membrane		g.chr5:77805969G>A	D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.68C>T	5.37:g.77805969G>A	ENSP00000425906:p.Ala23Val						p.A23V	NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)	4	744	-		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)	23			Helical; (Potential).		B2RMQ6|Q7Z5P0|Q92605	Missense_Mutation	SNP	ENST00000515007.2	37	c.68C>T	CCDS4042.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714126	0.89112	.	.	ENSG00000145685	ENST00000380345;ENST00000515007	T;T	0.71817	-0.6;-0.6	4.86	4.86	0.63082	.	0.159606	0.53938	D	0.000050	T	0.73087	0.3542	M	0.61703	1.905	0.53005	D	0.999966	P	0.42620	0.785	P	0.52823	0.71	T	0.69213	-0.5204	10	0.05620	T	0.96	-14.5327	13.1359	0.59409	0.0:0.1606:0.8394:0.0	.	23	Q6ZUX7	LHPL2_HUMAN	V	23	ENSP00000369702:A23V;ENSP00000425906:A23V	ENSP00000369702:A23V	A	-	2	0	LHFPL2	77841725	0.998000	0.40836	0.864000	0.33941	0.985000	0.73830	3.295000	0.51794	2.413000	0.81919	0.561000	0.74099	GCC		0.617	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	NM_005779	
ZRSR1	7310	broad.mit.edu	37	5	112227939	112227939	+	Silent	SNP	T	T	C	rs712666	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:112227939T>C	ENST00000391338.1	+	1	627	c.603T>C	c.(601-603)tcT>tcC	p.S201S	REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000513339.1_Intron|CTC-487M23.8_ENST00000506997.1_3'UTR|CTC-487M23.8_ENST00000512790.1_3'UTR|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000504247.1_Intron|CTC-487M23.5_ENST00000602872.1_RNA	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	201						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S201S(1)		breast(1)|skin(1)|stomach(2)	4						TCCCAACATCTAGTCCTACCC	0.453													C|||	1880	0.375399	0.6823	0.2867	5008	,	,		22598	0.1815		0.3638	False		,,,				2504	0.2352					uc011cvv.1																			1	Substitution - coding silent(1)		stomach(1)		0						c.(676-678)TCT>TCC		SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;																																				SO:0001819	synonymous_variant	6728				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding	g.chr5:112227939T>C	D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.603T>C	5.37:g.112227939T>C						SRP19_uc011cvu.1_Silent_p.S211S|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron	p.S226S			P09132	SRP19_HUMAN		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)	4	933	+		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)	Error:Variant_position_missing_in_P09132_after_alignment					B2R901|Q13570|Q2M3R8	Silent	SNP	ENST00000391338.1	37	c.678T>C																																																																																					0.453	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371801.1	NM_005083	
CCDC112	153733	broad.mit.edu	37	5	114607281	114607281	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:114607281C>T	ENST00000512261.1	-	8	1128	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	CCDC112_ENST00000379611.5_Missense_Mutation_p.E321K|CCDC112_ENST00000395557.4_Missense_Mutation_p.E238K|CCDC112_ENST00000506442.1_Missense_Mutation_p.E238K			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	238										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TTGAAAATTTCCTCCCTTTTT	0.289																																						uc003kqy.2																			0					0						c.(712-714)GAA>AAA		coiled-coil domain containing 112 isoform 2							125.0	117.0	120.0					5																	114607281		2202	4298	6500	SO:0001583	missense	153733							g.chr5:114607281C>T	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.712G>A	5.37:g.114607281C>T	ENSP00000423712:p.Glu238Lys					CCDC112_uc003kqz.2_Missense_Mutation_p.E321K|CCDC112_uc003kra.2_Missense_Mutation_p.E321K	p.E238K	NM_152549	NP_689762	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	7	1225	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	238			Potential.		Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	c.712G>A	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914020	0.72983	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.21932	1.98;2.03;2.03;2.03	5.82	5.82	0.92795	.	0.156720	0.56097	D	0.000037	T	0.31136	0.0787	L	0.60455	1.87	0.29475	N	0.856773	P;P;P	0.49559	0.925;0.925;0.925	P;P;P	0.52159	0.691;0.691;0.621	T	0.12293	-1.0553	10	0.16896	T	0.51	-23.8683	13.95	0.64111	0.0:0.9267:0.0:0.0733	.	238;321;238	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	K	321;238;238;238	ENSP00000368931:E321K;ENSP00000423712:E238K;ENSP00000424876:E238K;ENSP00000378925:E238K	ENSP00000368931:E321K	E	-	1	0	CCDC112	114635180	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.137000	0.42130	2.748000	0.94277	0.591000	0.81541	GAA		0.289	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549	
TENM2	57451	broad.mit.edu	37	5	167674863	167674863	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:167674863C>T	ENST00000518659.1	+	27	6958	c.6919C>T	c.(6919-6921)Cgg>Tgg	p.R2307W	TENM2_ENST00000545108.1_Missense_Mutation_p.R2306W|TENM2_ENST00000403607.2_Missense_Mutation_p.R2131W|TENM2_ENST00000520394.1_Missense_Mutation_p.R2068W|TENM2_ENST00000519204.1_Missense_Mutation_p.R2186W	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2307					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGGCGTAGGACGGCGGGCTTC	0.552																																						uc010jjd.2																			0				ovary(6)|central_nervous_system(4)	10						c.(6892-6894)CGG>TGG		odz, odd Oz/ten-m homolog 2							113.0	117.0	115.0					5																	167674863		2076	4207	6283	SO:0001583	missense	57451							g.chr5:167674863C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6919C>T	5.37:g.167674863C>T	ENSP00000429430:p.Arg2307Trp					ODZ2_uc003lzr.3_Missense_Mutation_p.R2068W|ODZ2_uc003lzt.3_Missense_Mutation_p.R1671W|ODZ2_uc010jje.2_Missense_Mutation_p.R1562W	p.R2298W	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	27	6892	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.6892C>T		.	.	.	.	.	.	.	.	.	.	C	17.64	3.440698	0.63067	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.93763	-2.8;-2.79;-2.94;-3.26;-3.28	5.44	3.52	0.40303	.	0.050754	0.85682	D	0.000000	D	0.97393	0.9147	H	0.94503	3.545	0.47276	D	0.999376	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.995	D	0.98223	1.0479	10	0.87932	D	0	.	13.6555	0.62336	0.391:0.609:0.0:0.0	.	2306;2307;2068	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	W	2307;2306;2186;2068;2131	ENSP00000429430:R2307W;ENSP00000438635:R2306W;ENSP00000428964:R2186W;ENSP00000427874:R2068W;ENSP00000384905:R2131W	ENSP00000384905:R2131W	R	+	1	2	ODZ2	167607441	0.924000	0.31332	0.967000	0.41034	0.980000	0.70556	1.979000	0.40608	1.274000	0.44362	0.561000	0.74099	CGG		0.552	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
OR10C1	442194	broad.mit.edu	37	6	29408233	29408233	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:29408233G>A	ENST00000444197.2	+	1	1151	c.441G>A	c.(439-441)gcG>gcA	p.A147A	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGGGTCGGCGTGGGCCTGTG	0.622																																						uc011dlp.1																			0					0						c.(439-441)GCG>GCA		olfactory receptor, family 10, subfamily C,							82.0	93.0	89.0					6																	29408233		1509	2709	4218	SO:0001819	synonymous_variant	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408233G>A		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.441G>A	6.37:g.29408233G>A						OR11A1_uc010jrh.1_Intron	p.A147A	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			1	441	+			147			Helical; Name=4; (Potential).		Q5SUN7|Q96R18	Silent	SNP	ENST00000444197.2	37	c.441G>A	CCDS34364.1																																																																																				0.622	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2		
GRM4	2914	broad.mit.edu	37	6	34101001	34101001	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:34101001G>A	ENST00000538487.2	-	2	716	c.273C>T	c.(271-273)aaC>aaT	p.N91N	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000374181.4_Silent_p.N91N	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	91					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGTCCGGGTCGTTGTTGATGC	0.622																																						uc003oir.3																			0				lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(271-273)AAC>AAT		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)						74.0	64.0	67.0					6																	34101001		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34101001G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.273C>T	6.37:g.34101001G>A						GRM4_uc011dsn.1_Silent_p.N91N|GRM4_uc010jvh.2_Silent_p.N91N|GRM4_uc010jvi.2_Translation_Start_Site|GRM4_uc010jvk.1_Silent_p.N10N	p.N91N	NM_000841	NP_000832	Q14833	GRM4_HUMAN			1	443	-			91			Extracellular (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.273C>T	CCDS4787.1																																																																																				0.622	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2		
DNAH8	1769	broad.mit.edu	37	6	38704936	38704936	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:38704936A>G	ENST00000359357.3	+	4	459	c.205A>G	c.(205-207)Aca>Gca	p.T69A	DNAH8_ENST00000441566.1_Missense_Mutation_p.T69A|DNAH8_ENST00000449981.2_Missense_Mutation_p.T286A			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	69					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)			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						TGTTCTTGCAACAAACAACTG	0.383																																						uc003ooe.1																			0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(205-207)ACA>GCA		dynein, axonemal, heavy polypeptide 8							98.0	101.0	100.0					6																	38704936		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38704936A>G	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.205A>G	6.37:g.38704936A>G	ENSP00000352312:p.Thr69Ala						p.T69A	NM_001371	NP_001362					4	805	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.205A>G		.	.	.	.	.	.	.	.	.	.	A	7.467	0.645802	0.14451	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.24350	1.89;1.9;1.86	5.2	5.2	0.72013	.	0.067167	0.64402	D	0.000016	T	0.11965	0.0291	M	0.62723	1.935	0.38689	D	0.952714	B	0.06786	0.001	B	0.06405	0.002	T	0.07829	-1.0752	10	0.09084	T	0.74	.	13.9121	0.63873	1.0:0.0:0.0:0.0	.	69	Q96JB1	DYH8_HUMAN	A	274;274;69;69	ENSP00000333363:T274A;ENSP00000352312:T69A;ENSP00000402294:T69A	ENSP00000333363:T274A	T	+	1	0	DNAH8	38812914	1.000000	0.71417	0.943000	0.38184	0.976000	0.68499	4.059000	0.57470	2.073000	0.62155	0.482000	0.46254	ACA		0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
AIM1	202	broad.mit.edu	37	6	106967934	106967934	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:106967934T>C	ENST00000369066.3	+	2	2114	c.1627T>C	c.(1627-1629)Tcc>Ccc	p.S543P		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGAGTGTCCATCCAGAGTCCT	0.527																																						uc003prh.2																			0				breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(1627-1629)TCC>CCC		absent in melanoma 1							64.0	66.0	65.0					6																	106967934		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106967934T>C	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1627T>C	6.37:g.106967934T>C	ENSP00000358062:p.Ser543Pro						p.S543P	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	2114	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	543					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.1627T>C	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	T	17.64	3.438570	0.62955	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.75938	-0.98	6.17	3.76	0.43208	.	0.701451	0.12492	N	0.464188	T	0.53061	0.1773	L	0.59436	1.845	0.80722	D	1	B	0.20887	0.049	B	0.19666	0.026	T	0.53599	-0.8416	10	0.51188	T	0.08	.	6.3935	0.21599	0.0:0.0796:0.1584:0.762	.	543	Q9Y4K1	AIM1_HUMAN	P	951;543	ENSP00000358062:S543P	ENSP00000285105:S951P	S	+	1	0	AIM1	107074627	0.993000	0.37304	0.846000	0.33378	0.496000	0.33645	2.227000	0.42972	0.546000	0.28920	0.533000	0.62120	TCC		0.527	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		
TBC1D32	221322	broad.mit.edu	37	6	121642861	121642861	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:121642861T>C	ENST00000398212.2	-	2	284	c.235A>G	c.(235-237)Aca>Gca	p.T79A	TBC1D32_ENST00000275159.6_Missense_Mutation_p.T79A	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	79					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										CGATCAGATGTGCATTTTTCC	0.368																																						uc003pyo.1																			0				central_nervous_system(2)|ovary(1)	3						c.(235-237)ACA>GCA		hypothetical protein LOC221322							227.0	205.0	212.0					6																	121642861		1870	4125	5995	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121642861T>C	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.235A>G	6.37:g.121642861T>C	ENSP00000381270:p.Thr79Ala					C6orf170_uc003pyq.1_RNA	p.T79A	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	2	303	-			79					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.235A>G	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.384366	0.25031	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	T;T;T	0.22539	1.95;1.95;1.95	5.44	4.29	0.51040	.	0.425407	0.24864	N	0.034989	T	0.07234	0.0183	L	0.28740	0.885	0.34587	D	0.715055	B	0.10296	0.003	B	0.11329	0.006	T	0.09079	-1.0691	10	0.44086	T	0.13	-19.9267	10.7182	0.46026	0.0:0.0745:0.0:0.9255	.	79	Q96NH3	BROMI_HUMAN	A	79	ENSP00000275159:T79A;ENSP00000381270:T79A;ENSP00000397993:T79A	ENSP00000275159:T79A	T	-	1	0	C6orf170	121684560	0.996000	0.38824	0.966000	0.40874	0.304000	0.27724	1.199000	0.32235	2.081000	0.62600	0.496000	0.49642	ACA		0.368	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
FNDC1	84624	broad.mit.edu	37	6	159653416	159653416	+	Silent	SNP	G	G	A	rs200852800	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:159653416G>A	ENST00000297267.9	+	11	2072	c.1872G>A	c.(1870-1872)gcG>gcA	p.A624A	FNDC1_ENST00000340366.6_Silent_p.A561A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	624					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCACCACGCGTCCACCCAGG	0.667													G|||	2	0.000399361	0.0015	0.0	5008	,	,		12051	0.0		0.0	False		,,,				2504	0.0					uc010kjv.2																			0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(1870-1872)GCG>GCA		fibronectin type III domain containing 1		G		2,4100		0,2,2049	31.0	36.0	34.0		1872	-6.8	0.0	6		34	0,8368		0,0,4184	no	coding-synonymous	FNDC1	NM_032532.2		0,2,6233	AA,AG,GG		0.0,0.0488,0.016		624/1895	159653416	2,12468	2051	4184	6235	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159653416G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1872G>A	6.37:g.159653416G>A						FNDC1_uc010kjw.1_Silent_p.A509A	p.A624A	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2072	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	624					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.1872G>A	CCDS47512.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.719	0.133692	0.09032	4.88E-4	0.0	ENSG00000164694	ENST00000329629	.	.	.	3.37	-6.75	0.01738	.	.	.	.	.	T	0.09024	0.0223	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.13469	-1.0508	4	.	.	.	.	6.2787	0.20995	0.5075:0.2309:0.2616:0.0	.	.	.	.	I	520	.	.	V	+	1	0	FNDC1	159573406	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.407000	0.02488	-2.518000	0.00499	-0.345000	0.07892	GTC		0.667	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
SLC22A2	6582	broad.mit.edu	37	6	160679423	160679423	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:160679423G>A	ENST00000366953.3	-	1	625	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Missense_Mutation_p.R102W	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	123					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CAGCCGTCCCGGCAGGGGCCC	0.627																																						uc003qtf.2																			0				breast(1)|skin(1)	2						c.(367-369)CGG>TGG		solute carrier family 22 member 2							54.0	62.0	59.0					6																	160679423		2202	4299	6501	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160679423G>A	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.367C>T	6.37:g.160679423G>A	ENSP00000355920:p.Arg123Trp					SLC22A2_uc003qte.1_Missense_Mutation_p.R123W|SLC22A2_uc003qth.1_Missense_Mutation_p.R123W	p.R123W	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	1	537	-		Breast(66;0.000776)|Ovarian(120;0.0303)	123			Extracellular (Potential).		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.367C>T	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.091647	0.55968	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.73575	-0.76;-0.69	5.36	-4.59	0.03400	Major facilitator superfamily domain (1);	1.635570	0.02962	N	0.143269	T	0.74496	0.3724	M	0.69358	2.11	0.09310	N	1	D;D;D	0.71674	0.998;0.989;0.998	P;P;P	0.58520	0.84;0.773;0.827	T	0.70011	-0.4989	10	0.66056	D	0.02	.	16.9132	0.86145	0.0:0.6466:0.1691:0.1843	.	123;123;123	O15244-3;O15244;O15244-2	.;S22A2_HUMAN;.	W	123;102	ENSP00000355920:R123W;ENSP00000355919:R102W	ENSP00000355919:R102W	R	-	1	2	SLC22A2	160599413	0.000000	0.05858	0.002000	0.10522	0.505000	0.33919	-0.270000	0.08584	-1.294000	0.02360	-0.165000	0.13383	CGG		0.627	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058	
HECW1	23072	broad.mit.edu	37	7	43519279	43519279	+	Missense_Mutation	SNP	G	G	A	rs374489291		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:43519279G>A	ENST00000395891.2	+	17	3775	c.3170G>A	c.(3169-3171)cGt>cAt	p.R1057H	HECW1_ENST00000453890.1_Missense_Mutation_p.R1023H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1057					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			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						CAGAACGGTCGTCTTCCCAAT	0.542																																						uc003tid.1																			0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(3169-3171)CGT>CAT		NEDD4-like ubiquitin-protein ligase 1		G	HIS/ARG	0,3900		0,0,1950	156.0	150.0	151.0		3170	5.7	1.0	7		151	1,8295		0,1,4147	no	missense	HECW1	NM_015052.3	29	0,1,6097	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	1057/1607	43519279	1,12195	1950	4148	6098	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43519279G>A	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.3170G>A	7.37:g.43519279G>A	ENSP00000379228:p.Arg1057His					HECW1_uc011kbi.1_Missense_Mutation_p.R1023H	p.R1057H	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			17	3775	+			1057					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.3170G>A	CCDS5469.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.328796|5.328796	0.95733|0.95733	0.0|0.0	1.21E-4|1.21E-4	ENSG00000002746|ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522|ENST00000429529	D;D|.	0.84730|.	-1.89;-1.89|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.145088|.	0.64402|.	N|.	0.000007|.	T|T	0.76535|0.76535	0.4001|0.4001	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D;P|.	0.89917|.	1.0;0.607|.	P;B|.	0.60609|.	0.877;0.097|.	T|T	0.74553|0.74553	-0.3627|-0.3627	10|5	0.49607|.	T|.	0.09|.	.|.	19.7543|19.7543	0.96284|0.96284	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1023;1057|.	B4DH42;Q76N89|.	.;HECW1_HUMAN|.	H|I	1057;1023;1057|10	ENSP00000379228:R1057H;ENSP00000407774:R1023H|.	ENSP00000265522:R1057H|.	R|V	+|+	2|1	0|0	HECW1|HECW1	43485804|43485804	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	7.870000|7.870000	0.87175|0.87175	2.680000|2.680000	0.91292|0.91292	0.561000|0.561000	0.74099|0.74099	CGT|GTC		0.542	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
BAZ1B	9031	broad.mit.edu	37	7	72892641	72892641	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:72892641T>A	ENST00000339594.4	-	7	1488	c.1150A>T	c.(1150-1152)Att>Ttt	p.I384F	BAZ1B_ENST00000404251.1_Missense_Mutation_p.I384F	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	384	Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTTTTAGGAATGTGAAAGTTA	0.433																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	uc003tyc.2																			0				ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7						c.(1150-1152)ATT>TTT		bromodomain adjacent to zinc finger domain, 1B							109.0	99.0	102.0					7																	72892641		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72892641T>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1150A>T	7.37:g.72892641T>A	ENSP00000342434:p.Ile384Phe						p.I384F	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN			7	1495	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	384			Lys-rich.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.1150A>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.626808	0.66901	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59502	0.26;0.26	5.93	4.79	0.61399	.	0.056877	0.64402	D	0.000001	T	0.37544	0.1007	N	0.19112	0.55	0.46725	D	0.999174	P	0.40970	0.734	B	0.34536	0.185	T	0.38200	-0.9672	10	0.54805	T	0.06	-19.6218	9.4011	0.38433	0.0:0.0793:0.0:0.9207	.	384	Q9UIG0	BAZ1B_HUMAN	F	384	ENSP00000342434:I384F;ENSP00000385442:I384F	ENSP00000342434:I384F	I	-	1	0	BAZ1B	72530577	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.184000	0.58323	2.273000	0.75805	0.482000	0.46254	ATT		0.433	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408	
PIK3CG	5294	broad.mit.edu	37	7	106524646	106524646	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:106524646G>C	ENST00000359195.3	+	9	3117	c.2807G>C	c.(2806-2808)tGt>tCt	p.C936S	PIK3CG_ENST00000440650.2_Missense_Mutation_p.C936S|PIK3CG_ENST00000496166.1_Missense_Mutation_p.C936S	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	936	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.C936S(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCAGGCTACTGTGTGGCAACC	0.363																																						uc003vdv.3																			1	Substitution - Missense(1)	p.C936S(1)	central_nervous_system(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(2806-2808)TGT>TCT		phosphoinositide-3-kinase, catalytic, gamma							188.0	183.0	185.0					7																	106524646		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106524646G>C		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2807G>C	7.37:g.106524646G>C	ENSP00000352121:p.Cys936Ser					PIK3CG_uc003vdu.2_Missense_Mutation_p.C936S|PIK3CG_uc003vdw.2_Missense_Mutation_p.C936S	p.C936S	NM_002649	NP_002640	P48736	PK3CG_HUMAN			9	2892	+			936			PI3K/PI4K.		A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.2807G>C	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776249	0.90195	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.74526	-0.85;-0.85;-0.85	5.05	5.05	0.67936	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.088781	0.85682	D	0.000000	T	0.76227	0.3958	L	0.28014	0.82	0.80722	D	1	P	0.50272	0.933	P	0.57057	0.812	T	0.76271	-0.3020	10	0.41790	T	0.15	-14.91	18.583	0.91178	0.0:0.0:1.0:0.0	.	936	P48736	PK3CG_HUMAN	S	936	ENSP00000392258:C936S;ENSP00000419260:C936S;ENSP00000352121:C936S	ENSP00000352121:C936S	C	+	2	0	PIK3CG	106311882	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.594000	0.98254	2.598000	0.87819	0.655000	0.94253	TGT		0.363	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
IMPDH1	3614	broad.mit.edu	37	7	128038490	128038490	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:128038490G>A	ENST00000480861.1	-	7	859	c.782C>T	c.(781-783)gCg>gTg	p.A261V	IMPDH1_ENST00000496200.1_Missense_Mutation_p.A241V|IMPDH1_ENST00000338791.6_Missense_Mutation_p.A351V|IMPDH1_ENST00000348127.6_Missense_Mutation_p.A315V|IMPDH1_ENST00000419067.2_Missense_Mutation_p.A318V|IMPDH1_ENST00000343214.4_Missense_Mutation_p.A241V|IMPDH1_ENST00000470772.1_Missense_Mutation_p.A265V|IMPDH1_ENST00000378717.4_Missense_Mutation_p.A282V|IMPDH1_ENST00000354269.5_Missense_Mutation_p.A341V	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						GTCGACGCCCGCCTGGGTGAG	0.602											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011kol.1																			0				skin(2)|lung(1)|central_nervous_system(1)	4						c.(796-798)GCG>GTG		inosine monophosphate dehydrogenase 1 isoform e	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						38.0	39.0	39.0					7																	128038490		2203	4298	6501	SO:0001583	missense	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128038490G>A		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.782C>T	7.37:g.128038490G>A	ENSP00000420185:p.Ala261Val		OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1561	IMPDH1_uc011kom.1_Missense_Mutation_p.A261V|IMPDH1_uc003vmt.2_Missense_Mutation_p.A241V|IMPDH1_uc003vmu.2_Missense_Mutation_p.A351V|IMPDH1_uc003vmw.2_Missense_Mutation_p.A341V|IMPDH1_uc011kon.1_Missense_Mutation_p.A318V|IMPDH1_uc003vmv.2_Missense_Mutation_p.A315V|IMPDH1_uc003vmx.2_Missense_Mutation_p.A274V|IMPDH1_uc003vmy.2_Missense_Mutation_p.A282V	p.A266V	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN			7	903	-			266			NAD (By similarity).			Missense_Mutation	SNP	ENST00000480861.1	37	c.797C>T	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111832	0.77210	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861;ENST00000497868	D;D;D;D;D;D;D;D;D;T	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.45	5.29	5.29	0.74685	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.103421	0.64402	D	0.000004	D	0.84188	0.5417	M	0.81497	2.545	0.80722	D	1	P;P;P;P;D;P;P;B	0.55800	0.805;0.5;0.676;0.718;0.973;0.835;0.919;0.444	B;B;B;B;P;B;B;B	0.46237	0.299;0.196;0.196;0.287;0.508;0.125;0.299;0.124	D	0.86975	0.2100	10	0.62326	D	0.03	-31.5243	16.4619	0.84059	0.0:0.0:1.0:0.0	.	318;261;266;282;341;315;351;241	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	V	318;351;241;341;282;315;241;265;261;282	ENSP00000399400:A318V;ENSP00000345096:A351V;ENSP00000420803:A241V;ENSP00000346219:A341V;ENSP00000367989:A282V;ENSP00000265385:A315V;ENSP00000342438:A241V;ENSP00000417296:A265V;ENSP00000420185:A261V;ENSP00000419609:A282V	ENSP00000345096:A351V	A	-	2	0	IMPDH1	127825726	1.000000	0.71417	0.951000	0.38953	0.385000	0.30292	9.837000	0.99465	2.489000	0.83994	0.655000	0.94253	GCG		0.602	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883	
CLCN1	1180	broad.mit.edu	37	7	143029823	143029823	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:143029823C>T	ENST00000343257.2	+	12	1345	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	420					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCAGTTGATGCCCCGCGAAGC	0.522																																						uc003wcr.1																			0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1258-1260)CCC>TCC		chloride channel 1, skeletal muscle							166.0	159.0	161.0					7																	143029823		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143029823C>T	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1258C>T	7.37:g.143029823C>T	ENSP00000339867:p.Pro420Ser					CLCN1_uc011ktc.1_Intron	p.P420S	NM_000083	NP_000074	P35523	CLCN1_HUMAN			12	1345	+	Melanoma(164;0.205)		420					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.1258C>T	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500391	0.64298	.	.	ENSG00000188037	ENST00000343257	D	0.92595	-3.07	5.36	5.36	0.76844	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.93177	0.7827	L	0.31476	0.935	0.58432	D	0.999996	D	0.76494	0.999	D	0.75484	0.986	D	0.90724	0.4637	10	0.20519	T	0.43	.	19.4395	0.94813	0.0:1.0:0.0:0.0	.	420	P35523	CLCN1_HUMAN	S	420	ENSP00000339867:P420S	ENSP00000339867:P420S	P	+	1	0	CLCN1	142739945	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	7.769000	0.85360	2.683000	0.91414	0.643000	0.83706	CCC		0.522	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083	
OR2F2	135948	broad.mit.edu	37	7	143632969	143632969	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:143632969T>A	ENST00000408955.2	+	1	711	c.644T>A	c.(643-645)cTg>cAg	p.L215Q		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TGCCTGGTTCTGTTGTCCTAC	0.517																																						uc011ktv.1																			0				ovary(3)|skin(1)	4						c.(643-645)CTG>CAG		olfactory receptor, family 2, subfamily F,							211.0	186.0	195.0					7																	143632969		2203	4300	6503	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632969T>A		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.644T>A	7.37:g.143632969T>A	ENSP00000386222:p.Leu215Gln						p.L215Q	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			1	644	+	Melanoma(164;0.0903)		215			Helical; Name=5; (Potential).		A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.644T>A	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.564158	0.45694	.	.	ENSG00000221910	ENST00000408955	T	0.00277	8.34	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000309	T	0.00906	0.0030	H	0.94925	3.6	0.21527	N	0.999657	D	0.89917	1.0	D	0.97110	1.0	T	0.14254	-1.0479	10	0.87932	D	0	-32.1295	10.2613	0.43427	0.0:0.0:0.0:1.0	.	215	O95006	OR2F2_HUMAN	Q	215	ENSP00000386222:L215Q	ENSP00000386222:L215Q	L	+	2	0	OR2F2	143263902	0.017000	0.18338	0.966000	0.40874	0.668000	0.39293	2.061000	0.41403	1.578000	0.49821	0.402000	0.26972	CTG		0.517	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1		
CNTNAP2	26047	broad.mit.edu	37	7	147914464	147914464	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:147914464G>T	ENST00000361727.3	+	19	3611	c.3095G>T	c.(3094-3096)aGa>aTa	p.R1032I	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.R91I	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1032					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCCAGCAGCAGAGTAGACAAC	0.532										HNSCC(39;0.1)																												uc003weu.1																			0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(3094-3096)AGA>ATA		cell recognition molecule Caspr2 precursor							123.0	121.0	122.0					7																	147914464		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147914464G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3095G>T	7.37:g.147914464G>T	ENSP00000354778:p.Arg1032Ile	HNSCC(39;0.1)					p.R1032I	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		19	3611	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1032			Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.3095G>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	7.593	0.671116	0.14776	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	D;T	0.88664	-2.41;2.72	5.01	3.15	0.36227	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.253184	0.37577	N	0.002037	D	0.82305	0.5008	L	0.59436	1.845	0.09310	N	1	B	0.31519	0.327	B	0.26202	0.067	T	0.67268	-0.5713	10	0.22109	T	0.4	.	5.8806	0.18854	0.1799:0.1541:0.666:0.0	.	1032	Q9UHC6	CNTP2_HUMAN	I	1032;91	ENSP00000354778:R1032I;ENSP00000440732:R91I	ENSP00000354778:R1032I	R	+	2	0	CNTNAP2	147545397	0.006000	0.16342	0.003000	0.11579	0.002000	0.02628	1.542000	0.36137	0.480000	0.27534	-0.221000	0.12465	AGA		0.532	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
UBE3C	9690	broad.mit.edu	37	7	156976584	156976584	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:156976584A>T	ENST00000348165.5	+	9	1364	c.1004A>T	c.(1003-1005)gAg>gTg	p.E335V	UBE3C_ENST00000389103.4_Missense_Mutation_p.E292V	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	335					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GCCCTCTCTGAGGAAGGGCTG	0.473																																						uc010lqs.2																			0				ovary(2)|lung(2)|large_intestine(1)	5						c.(1003-1005)GAG>GTG		ubiquitin protein ligase E3C							100.0	114.0	109.0					7																	156976584		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156976584A>T	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1004A>T	7.37:g.156976584A>T	ENSP00000309198:p.Glu335Val					UBE3C_uc003wnf.2_Missense_Mutation_p.E292V|UBE3C_uc003wng.2_Missense_Mutation_p.E335V	p.E335V	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	9	1316	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	335					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.1004A>T	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.482069	0.84747	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.48201	0.82	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.66107	0.2756	M	0.67953	2.075	0.80722	D	1	D;D;D	0.76494	0.968;0.999;0.999	P;D;D	0.73708	0.578;0.953;0.981	T	0.68401	-0.5418	10	0.52906	T	0.07	-30.1727	14.9637	0.71174	1.0:0.0:0.0:0.0	.	335;335;292	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	V	335;292	ENSP00000309198:E335V	ENSP00000309198:E335V	E	+	2	0	UBE3C	156669345	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.594000	0.82698	1.936000	0.56123	0.482000	0.46254	GAG		0.473	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
SCARA5	286133	broad.mit.edu	37	8	27737142	27737142	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:27737142C>T	ENST00000354914.3	-	8	1780	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	SCARA5_ENST00000380385.2_Missense_Mutation_p.R207H	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	432	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCCGAGCATGCGGCACACCAC	0.642																																						uc003xgj.2																			0				central_nervous_system(1)|skin(1)	2						c.(1294-1296)CGC>CAC		scavenger receptor class A, member 5							156.0	121.0	133.0					8																	27737142		2203	4300	6503	SO:0001583	missense	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27737142C>T	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1295G>A	8.37:g.27737142C>T	ENSP00000346990:p.Arg432His					SCARA5_uc010luz.2_Missense_Mutation_p.R207H	p.R432H	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	8	1735	-		Ovarian(32;0.0218)	432			SRCR.|Extracellular (Potential).		Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	ENST00000354914.3	37	c.1295G>A	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480662	0.63849	.	.	ENSG00000168079	ENST00000354914;ENST00000380385	T;T	0.42900	0.96;0.96	4.87	3.99	0.46301	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.063343	0.64402	N	0.000010	T	0.48804	0.1520	M	0.88241	2.94	0.80722	D	1	B;B	0.25206	0.012;0.12	B;B	0.19946	0.008;0.027	T	0.54417	-0.8297	10	0.66056	D	0.02	.	11.0431	0.47842	0.0:0.907:0.0:0.093	.	207;432	Q6ZMJ2-4;Q6ZMJ2	.;SCAR5_HUMAN	H	432;207	ENSP00000346990:R432H;ENSP00000369746:R207H	ENSP00000346990:R432H	R	-	2	0	SCARA5	27793061	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	4.882000	0.63121	1.170000	0.42753	0.591000	0.81541	CGC		0.642	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833	
NRG1	3084	broad.mit.edu	37	8	31497984	31497984	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:31497984G>C	ENST00000520407.1	+	1	714	c.484G>C	c.(484-486)Gtg>Ctg	p.V162L	NRG1_ENST00000519301.1_Intron	NM_013962.2	NP_039256.2	Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCCCTATCTGGTGAAGGTGCA	0.741																																						uc003xip.2																			0					0						c.(484-486)GTG>CTG		neuregulin 1 isoform GGF2							9.0	12.0	11.0					8																	31497984		1856	4052	5908	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:31497984G>C	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000520407.1:c.484G>C	8.37:g.31497984G>C	ENSP00000434640:p.Val162Leu						p.V162L	NM_013962	NP_039256	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	1	717	+		Breast(100;0.203)	Error:Variant_position_missing_in_Q02297_after_alignment					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000520407.1	37	c.484G>C	CCDS47836.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440988	0.25900	.	.	ENSG00000157168	ENST00000520407;ENST00000523534	T;T	0.80393	-1.37;-1.17	3.97	3.97	0.46021	.	.	.	.	.	T	0.77068	0.4076	.	.	.	0.80722	D	1	P	0.41393	0.748	B	0.39562	0.303	T	0.81278	-0.1005	8	0.87932	D	0	.	13.8696	0.63610	0.0:0.0:1.0:0.0	.	162	Q02297-9	.	L	162;15	ENSP00000434640:V162L;ENSP00000429067:V15L	ENSP00000434640:V162L	V	+	1	0	NRG1	31617526	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	5.420000	0.66441	1.921000	0.55644	0.563000	0.77884	GTG		0.741	NRG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376412.2		
SULF1	23213	broad.mit.edu	37	8	70515453	70515453	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:70515453A>T	ENST00000260128.4	+	11	1805	c.1088A>T	c.(1087-1089)gAc>gTc	p.D363V	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.D363V|SULF1_ENST00000458141.2_Missense_Mutation_p.D363V|SULF1_ENST00000402687.4_Missense_Mutation_p.D363V	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	363					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTCAACATTGACTTGGCCCCC	0.537																																						uc010lza.1																			0				central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(1087-1089)GAC>GTC		sulfatase 1 precursor							232.0	197.0	209.0					8																	70515453		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70515453A>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1088A>T	8.37:g.70515453A>T	ENSP00000260128:p.Asp363Val					SULF1_uc003xyd.2_Missense_Mutation_p.D363V|SULF1_uc003xye.2_Missense_Mutation_p.D363V|SULF1_uc003xyf.2_Missense_Mutation_p.D363V|SULF1_uc003xyg.2_Missense_Mutation_p.D363V|SULF1_uc003xyh.1_RNA	p.D363V	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		11	1805	+	Breast(64;0.0654)		363					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1088A>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.805020	0.90623	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99737	-6.59;-6.59;-6.59;-6.59	6.17	6.17	0.99709	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96486	0.9360	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	363	Q8IWU6	SULF1_HUMAN	V	363	ENSP00000403040:D363V;ENSP00000260128:D363V;ENSP00000385704:D363V;ENSP00000390315:D363V	ENSP00000260128:D363V	D	+	2	0	SULF1	70678007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GAC		0.537	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170	
RIMS2	9699	broad.mit.edu	37	8	105001535	105001535	+	Missense_Mutation	SNP	G	G	A	rs368813886		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:105001535G>A	ENST00000436393.2	+	15	2505	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	RIMS2_ENST00000406091.3_Missense_Mutation_p.R977Q|RIMS2_ENST00000507740.1_Missense_Mutation_p.R769Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R816Q			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1039					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTTTAGTCGGAATGTGGAA	0.383										HNSCC(12;0.0054)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		17562	0.0		0.0	False		,,,				2504	0.0					uc003yls.2																			0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2263-2265)CGG>CAG		regulating synaptic membrane exocytosis 2		G	GLN/ARG,GLN/ARG	2,3706		0,2,1852	130.0	126.0	127.0		2930,2306	5.5	1.0	8		127	0,8196		0,0,4098	no	missense,missense	RIMS2	NM_001100117.2,NM_014677.4	43,43	0,2,5950	AA,AG,GG		0.0,0.0539,0.0168	probably-damaging,probably-damaging	977/1350,769/1164	105001535	2,11902	1854	4098	5952	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105001535G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2264G>A	8.37:g.105001535G>A	ENSP00000390665:p.Arg755Gln	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.R977Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R769Q|RIMS2_uc003ylq.2_Missense_Mutation_p.R769Q|RIMS2_uc003ylr.2_Missense_Mutation_p.R816Q	p.R755Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		15	2505	+			1039					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2264G>A		.	.	.	.	.	.	.	.	.	.	G	18.84	3.708325	0.68615	5.39E-4	0.0	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.18502	2.21;2.77;2.41;2.38;2.3;2.65	5.54	5.54	0.83059	.	.	.	.	.	T	0.29389	0.0732	L	0.40543	1.245	0.80722	D	1	B;D;P;D;D	0.69078	0.107;0.997;0.584;0.991;0.996	B;P;B;P;P	0.59221	0.029;0.592;0.05;0.449;0.854	T	0.00872	-1.1532	9	0.20519	T	0.43	.	19.0702	0.93130	0.0:0.0:1.0:0.0	.	1039;755;816;769;977	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	Q	977;992;977;1039;816;769;769;755	ENSP00000427018:R977Q;ENSP00000384892:R977Q;ENSP00000262231:R816Q;ENSP00000423559:R769Q;ENSP00000386228:R769Q;ENSP00000390665:R755Q	ENSP00000262231:R816Q	R	+	2	0	RIMS2	105070711	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	6.252000	0.72447	2.617000	0.88574	0.484000	0.47621	CGG		0.383	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
EPPK1	83481	broad.mit.edu	37	8	144947336	144947336	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:144947336G>A	ENST00000525985.1	-	2	157	c.86C>T	c.(85-87)aCg>aTg	p.T29M				P58107	EPIPL_HUMAN	epiplakin 1	29						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCTCCCAGCGTGGCTGCCAT	0.672																																						uc003zaa.1																			0				pancreas(1)|skin(1)	2						c.(85-87)ACG>ATG		epiplakin 1							20.0	27.0	25.0					8																	144947336		2142	4241	6383	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144947336G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.86C>T	8.37:g.144947336G>A	ENSP00000436337:p.Thr29Met						p.T29M	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	99	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		29					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.86C>T		.	.	.	.	.	.	.	.	.	.	G	10.34	1.323024	0.24080	.	.	ENSG00000227184	ENST00000525985	T	0.67345	-0.26	3.46	-3.41	0.04839	.	.	.	.	.	T	0.36082	0.0954	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.04013	0.001	T	0.10941	-1.0608	9	0.33940	T	0.23	.	1.5899	0.02652	0.3635:0.1751:0.3324:0.129	.	29	E9PPU0	.	M	29	ENSP00000436337:T29M	ENSP00000436337:T29M	T	-	2	0	EPPK1	145019324	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.996000	0.03709	-0.703000	0.05049	-0.481000	0.04817	ACG		0.672	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
C9orf66	157983	broad.mit.edu	37	9	214916	214916	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr9:214916G>A	ENST00000382387.2	-	1	977	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	DOCK8_ENST00000453981.1_5'UTR|DOCK8_ENST00000432829.2_5'UTR	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	161								p.R161C(1)		central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		ACTCTGCGGCGCGCCAGGCCC	0.687																																						uc003zge.3																			1	Substitution - Missense(1)	p.R161C(1)	central_nervous_system(1)	central_nervous_system(1)	1						c.(481-483)CGC>TGC		hypothetical protein LOC157983							14.0	14.0	14.0					9																	214916		1858	3733	5591	SO:0001583	missense	157983							g.chr9:214916G>A	AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.481C>T	9.37:g.214916G>A	ENSP00000371824:p.Arg161Cys					DOCK8_uc011lls.1_5'UTR|DOCK8_uc003zgf.2_5'UTR	p.R161C	NM_152569	NP_689782	Q5T8R8	CI066_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	978	-	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	161					Q96NB0	Missense_Mutation	SNP	ENST00000382387.2	37	c.481C>T	CCDS6439.1	.	.	.	.	.	.	.	.	.	.	.	1.462	-0.562060	0.03939	.	.	ENSG00000183784	ENST00000382387	T	0.22945	1.93	2.59	-2.45	0.06481	.	.	.	.	.	T	0.10165	0.0249	N	0.08118	0	0.20196	N	0.999925	B	0.23806	0.091	B	0.19148	0.024	T	0.26052	-1.0114	9	0.87932	D	0	.	2.3884	0.04372	0.2805:0.0:0.3108:0.4087	.	161	Q5T8R8	CI066_HUMAN	C	161	ENSP00000371824:R161C	ENSP00000371824:R161C	R	-	1	0	C9orf66	204916	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.255000	0.08769	-0.296000	0.08947	-0.679000	0.03777	CGC		0.687	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569	
SUSD1	64420	broad.mit.edu	37	9	114874102	114874102	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr9:114874102G>A	ENST00000374270.3	-	8	1175	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	SUSD1_ENST00000374264.2_Missense_Mutation_p.R335W|SUSD1_ENST00000374263.3_Missense_Mutation_p.R335W	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	335						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGGTCCAACCGTTGTCCTTTT	0.498																																						uc004bfu.2																			0					0						c.(1003-1005)CGG>TGG		sushi domain containing 1 precursor							181.0	158.0	165.0					9																	114874102		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114874102G>A	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1003C>T	9.37:g.114874102G>A	ENSP00000363388:p.Arg335Trp					SUSD1_uc010mui.2_Missense_Mutation_p.R335W|SUSD1_uc010muj.2_Missense_Mutation_p.R335W	p.R335W	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN			8	1044	-			335			Extracellular (Potential).		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1003C>T	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.303411|4.303411	0.81136|0.81136	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000355396	T;T;T|.	0.74842|.	-0.8;-0.82;-0.88|.	5.61|5.61	1.5|1.5	0.22942|0.22942	.|.	0.677027|.	0.12991|.	N|.	0.422499|.	T|T	0.45377|0.45377	0.1339|0.1339	M|M	0.77313|0.77313	2.365|2.365	0.09310|0.09310	N|N	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	P;P;P|.	0.62184|.	0.899;0.854;0.794|.	T|T	0.44892|0.44892	-0.9298|-0.9298	10|5	0.36615|.	T|.	0.2|.	-5.8915|-5.8915	1.6853|1.6853	0.02840|0.02840	0.179:0.1654:0.4844:0.1712|0.179:0.1654:0.4844:0.1712	.|.	335;335;335|.	F8WAQ1;Q6UWL2-2;Q6UWL2|.	.;.;SUSD1_HUMAN|.	W|M	335|318	ENSP00000363388:R335W;ENSP00000363381:R335W;ENSP00000363382:R335W|.	ENSP00000363381:R335W|.	R|T	-|-	1|2	2|0	SUSD1|SUSD1	113913923|113913923	0.000000|0.000000	0.05858|0.05858	0.090000|0.090000	0.20809|0.20809	0.930000|0.930000	0.56654|0.56654	0.365000|0.365000	0.20348|0.20348	0.819000|0.819000	0.34492|0.34492	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.498	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486	
LAMC3	10319	broad.mit.edu	37	9	133927946	133927946	+	Missense_Mutation	SNP	G	G	A	rs142796007	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr9:133927946G>A	ENST00000361069.4	+	10	1832	c.1699G>A	c.(1699-1701)Ggg>Agg	p.G567R	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	567	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGTGCCCCCCGGGGACTCCCC	0.622											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004caa.1																			0				ovary(2)|pancreas(1)	3						c.(1699-1701)GGG>AGG		laminin, gamma 3 precursor		G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	51.0	58.0	56.0		1699	3.4	0.0	9	dbSNP_134	56	2,8598	1.2+/-3.3	0,2,4298	yes	missense	LAMC3	NM_006059.3	125	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	567/1576	133927946	3,13003	2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133927946G>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1699G>A	9.37:g.133927946G>A	ENSP00000354360:p.Gly567Arg		OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1606		p.G567R	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	10	1797	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	567			Laminin IV type A.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.1699G>A	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	0.104	-1.148086	0.01714	2.27E-4	2.33E-4	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.39787	1.06	5.26	3.44	0.39384	Laminin B type IV (2);	0.453231	0.25714	N	0.028784	T	0.42131	0.1189	L	0.42245	1.32	0.22552	N	0.998998	D	0.58620	0.983	P	0.54346	0.749	T	0.18116	-1.0347	10	0.25106	T	0.35	.	7.0977	0.25319	0.1557:0.1389:0.7054:0.0	.	567	Q9Y6N6	LAMC3_HUMAN	R	567	ENSP00000354360:G567R	ENSP00000347156:G567R	G	+	1	0	LAMC3	132917767	0.475000	0.25894	0.041000	0.18516	0.003000	0.03518	0.865000	0.27940	0.605000	0.29947	-0.347000	0.07816	GGG		0.622	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	
NDUFB11	54539	broad.mit.edu	37	X	47001797	47001797	+	Silent	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:47001797T>C	ENST00000377811.3	-	3	1205	c.381A>G	c.(379-381)aaA>aaG	p.K127K	RBM10_ENST00000377604.3_5'Flank|RBM10_ENST00000345781.6_5'Flank|RBM10_ENST00000329236.7_5'Flank|NDUFB11_ENST00000276062.8_Silent_p.K137K	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	127					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						CCTCTCGGTATTTCACAAGCC	0.552																																					Ovarian(77;454 1296 7908 21551 37072)	uc004dhd.2																			0					0						c.(379-381)AAA>AAG		NADH dehydrogenase (ubiquinone) 1 beta							100.0	72.0	81.0					X																	47001797		2203	4300	6503	SO:0001819	synonymous_variant	54539				respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I		g.chrX:47001797T>C	AF044213	CCDS14273.1, CCDS48100.1	Xp11.3	2011-07-04			ENSG00000147123	ENSG00000147123		"""Mitochondrial respiratory chain complex / Complex I"""	20372	protein-coding gene	gene with protein product	"""complex I NP17.3 subunit"""	300403				10544803, 12381726	Standard	NM_019056		Approved	ESSS, NP17.3, Np15	uc004dhc.3	Q9NX14	OTTHUMG00000021433	ENST00000377811.3:c.381A>G	X.37:g.47001797T>C						NDUFB11_uc004dhc.2_Silent_p.K137K|RBM10_uc004dhe.1_5'Flank|RBM10_uc004dhf.2_5'Flank|RBM10_uc004dhg.2_5'Flank|RBM10_uc004dhh.2_5'Flank|RBM10_uc010nhq.2_5'Flank|RBM10_uc004dhi.2_5'Flank	p.K127K	NM_001135998	NP_001129470	Q9NX14	NDUBB_HUMAN			3	912	-			127					Q5JRR3|Q5JRR4|Q6IAB6|Q8WZ96|Q9BXX9	Silent	SNP	ENST00000377811.3	37	c.381A>G	CCDS48100.1																																																																																				0.552	NDUFB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056382.1	NM_019056	
GATA1	2623	broad.mit.edu	37	X	48652346	48652346	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:48652346G>A	ENST00000376670.3	+	6	1128	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	339					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TGGTGGCTGGGGGCAGCGGTA	0.627			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	uc004dkq.3				Dom	yes		X	Xp11.23	2623	Mis|F	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		0				haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						c.(1015-1017)GGG>GGA		GATA binding protein 1							35.0	32.0	33.0					X																	48652346		2203	4297	6500	SO:0001819	synonymous_variant	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48652346G>A	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.1017G>A	X.37:g.48652346G>A							p.G339G	NM_002049	NP_002040	P15976	GATA1_HUMAN			6	1108	+			339					Q96GB8	Silent	SNP	ENST00000376670.3	37	c.1017G>A	CCDS14305.1																																																																																				0.627	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049	
YIPF6	286451	broad.mit.edu	37	X	67742719	67742719	+	Silent	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:67742719G>T	ENST00000462683.1	+	6	1296	c.552G>T	c.(550-552)cgG>cgT	p.R184R	YIPF6_ENST00000374622.2_Silent_p.R141R	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	184					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						TCATGGTTCGGCTTTTTGTGG	0.408																																						uc004dwy.2																			0					0						c.(550-552)CGG>CGT		Yip1 domain family, member 6							245.0	173.0	197.0					X																	67742719		2203	4300	6503	SO:0001819	synonymous_variant	286451					endoplasmic reticulum|integral to membrane		g.chrX:67742719G>T	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"""Yip1 domain family"""	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.552G>T	X.37:g.67742719G>T						YIPF6_uc011mph.1_Silent_p.R141R	p.R184R	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN			6	575	+			184					B4E1U7|G5E997|Q5JP08	Silent	SNP	ENST00000462683.1	37	c.552G>T	CCDS14389.1																																																																																				0.408	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834	
CDX4	1046	broad.mit.edu	37	X	72667262	72667262	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:72667262A>G	ENST00000373514.2	+	1	173	c.173A>G	c.(172-174)cAt>cGt	p.H58R		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	58					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GGGTATCCTCATATGCCCAGC	0.632																																						uc011mqk.1																			0					0						c.(172-174)CAT>CGT		caudal type homeobox 4							51.0	43.0	46.0					X																	72667262		2203	4300	6503	SO:0001583	missense	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667262A>G	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.173A>G	X.37:g.72667262A>G	ENSP00000362613:p.His58Arg						p.H58R	NM_005193	NP_005184	O14627	CDX4_HUMAN			1	173	+	Renal(35;0.156)		58					A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	37	c.173A>G	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	11.91	1.778842	0.31502	.	.	ENSG00000131264	ENST00000373514	T	0.50277	0.75	2.57	2.57	0.30868	Caudal-like activation domain (1);	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	M	0.83118	2.625	0.58432	D	0.999993	D	0.76494	0.999	D	0.81914	0.995	T	0.64462	-0.6402	10	0.38643	T	0.18	-10.0391	8.1658	0.31226	1.0:0.0:0.0:0.0	.	58	O14627	CDX4_HUMAN	R	58	ENSP00000362613:H58R	ENSP00000362613:H58R	H	+	2	0	CDX4	72583987	1.000000	0.71417	0.515000	0.27774	0.081000	0.17604	3.327000	0.52045	1.263000	0.44181	0.356000	0.21956	CAT		0.632	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193	
CPXCR1	53336	broad.mit.edu	37	X	88009244	88009244	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:88009244T>C	ENST00000276127.4	+	3	1088	c.829T>C	c.(829-831)Ttt>Ctt	p.F277L	CPXCR1_ENST00000373111.1_Missense_Mutation_p.F277L	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	277							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TTGGAAATACTTTTGTCCCAT	0.299																																						uc004efd.3																			0				ovary(3)	3						c.(829-831)TTT>CTT		CPX chromosome region, candidate 1							42.0	41.0	41.0					X																	88009244		2200	4296	6496	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88009244T>C	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.829T>C	X.37:g.88009244T>C	ENSP00000276127:p.Phe277Leu					CPXCR1_uc004efc.3_Missense_Mutation_p.F277L	p.F277L	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN			3	1088	+			277					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.829T>C	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	T	1.339	-0.594620	0.03771	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.01505	4.82;4.82	3.57	-0.77	0.11005	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	1.024420	0.07843	N	0.963359	T	0.00906	0.0030	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49351	-0.8949	9	.	.	.	0.002	1.2472	0.01975	0.3811:0.3062:0.1851:0.1276	.	277	Q8N123	CPXCR_HUMAN	L	277	ENSP00000276127:F277L;ENSP00000362203:F277L	.	F	+	1	0	CPXCR1	87895900	0.001000	0.12720	0.122000	0.21767	0.487000	0.33371	-0.475000	0.06599	-0.293000	0.08986	-0.293000	0.09583	TTT		0.299	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048	
