#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SMARCA1	6594	broad.mit.edu	37	X	128624100	128624100	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chrX:128624100C>T	ENST00000371122.4	-	15	2014	c.1885G>A	c.(1885-1887)Gaa>Aaa	p.E629K	SMARCA1_ENST00000371121.3_Missense_Mutation_p.E617K|SMARCA1_ENST00000371123.1_Missense_Mutation_p.E617K	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	629	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ATCCTCTCTTCAACAGTGTTG	0.353																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(1885-1887)Gaa>Aaa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							129.0	110.0	116.0					X																	128624100		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128624100C>T	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1885G>A	X.37:g.128624100C>T	ENSP00000360163:p.Glu629Lys					SMARCA1_ENST00000371123.1_Missense_Mutation_p.E617K|SMARCA1_ENST00000371121.3_Missense_Mutation_p.E617K	p.E629K	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			15	2014	-			629			Helicase C-terminal.		Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.1885G>A	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	34	5.388062	0.95988	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.23	5.23	0.72850	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000003	D	0.96253	0.8778	H	0.99770	4.765	0.80722	D	1	D;D;D;D	0.71674	0.997;0.997;0.998;0.997	D;D;D;D	0.70016	0.928;0.928;0.967;0.928	D	0.98678	1.0691	10	0.87932	D	0	-17.8376	18.1631	0.89716	0.0:1.0:0.0:0.0	.	608;629;617;629	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	K	617;617;629;608	ENSP00000360162:E617K;ENSP00000360164:E617K;ENSP00000360163:E629K;ENSP00000404275:E608K	ENSP00000360162:E617K	E	-	1	0	SMARCA1	128451781	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.313000	0.78055	0.523000	0.50628	GAA		0.353	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		23	6	0	0	0	1	0	23	6				
PDGFRB	5159	broad.mit.edu	37	5	149497216	149497216	+	Silent	SNP	G	G	A	rs569140859		TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr5:149497216G>A	ENST00000261799.4	-	22	3571	c.3102C>T	c.(3100-3102)gaC>gaT	p.D1034D		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1034					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|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 phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGGGCCCTCGTCAGCAACCT	0.602			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								G|||	1	0.000199681	0.0	0.0	5008	,	,		15763	0.0		0.0	False		,,,				2504	0.001					ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(3100-3102)gaC>gaT		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						67.0	66.0	66.0					5																	149497216		2203	4300	6503	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149497216G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.3102C>T	5.37:g.149497216G>A							p.D1034D	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	3571	-		all_hematologic(541;0.224)	1034					B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.3102C>T	CCDS4303.1																																																																																				0.602	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		20	21	0	0	0	1	0	20	21				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	199	0	0	0	1	0	5	199				
VWA3B	200403	broad.mit.edu	37	2	98737795	98737795	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr2:98737795T>A	ENST00000477737.1	+	5	780	c.576T>A	c.(574-576)aaT>aaA	p.N192K	VWA3B_ENST00000435344.1_Missense_Mutation_p.N192K|VWA3B_ENST00000451075.2_Missense_Mutation_p.N42K	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	192										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGCAGGAAAATGCTACTCCTG	0.542																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(574-576)aaT>aaA		von Willebrand factor A domain containing 3B							70.0	75.0	74.0					2																	98737795		1979	4180	6159	SO:0001583	missense	200403							g.chr2:98737795T>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.576T>A	2.37:g.98737795T>A	ENSP00000417955:p.Asn192Lys					VWA3B_ENST00000451075.2_Missense_Mutation_p.N42K|VWA3B_ENST00000435344.1_Missense_Mutation_p.N192K	p.N192K	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			5	780	+			192					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.576T>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.474731	0.26511	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.12672	3.22;3.22;2.66	5.48	-6.64	0.01801	.	1.327200	0.04625	N	0.402677	T	0.07728	0.0194	L	0.43152	1.355	0.09310	N	1	B;B;B	0.20550	0.003;0.046;0.021	B;B;B	0.17098	0.002;0.013;0.017	T	0.38585	-0.9654	10	0.06099	T	0.92	.	2.6703	0.05065	0.1715:0.363:0.0952:0.3703	.	42;192;192	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	K	192;192;42	ENSP00000401959:N192K;ENSP00000417955:N192K;ENSP00000389463:N42K	ENSP00000411168:N192K	N	+	3	2	VWA3B	98104227	0.000000	0.05858	0.002000	0.10522	0.914000	0.54420	-0.936000	0.03946	-0.760000	0.04677	-0.316000	0.08728	AAT		0.542	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		6	30	0	0	0	1	0	6	30				
HRNR	388697	broad.mit.edu	37	1	152192638	152192638	+	Silent	SNP	G	G	A			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr1:152192638G>A	ENST00000368801.2	-	3	1542	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	489					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCGTGGCCGGAGGAGTGAC	0.542																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1465-1467)tcC>tcT		hornerin							299.0	280.0	286.0					1																	152192638		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192638G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1467C>T	1.37:g.152192638G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S489S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1542	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		489					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.1467C>T	CCDS30859.1																																																																																				0.542	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		5	251	0	0	0	1	0	5	251				
FERMT2	10979	broad.mit.edu	37	14	53331155	53331155	+	Silent	SNP	C	C	T			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr14:53331155C>T	ENST00000395631.2	-	12	1782	c.1566G>A	c.(1564-1566)gtG>gtA	p.V522V	FERMT2_ENST00000399304.3_Silent_p.V522V|FERMT2_ENST00000557255.1_5'Flank|FERMT2_ENST00000553373.1_Silent_p.V522V|FERMT2_ENST00000343279.4_Silent_p.V522V|FERMT2_ENST00000341590.3_Silent_p.V522V			Q96AC1	FERM2_HUMAN	fermitin family member 2	522	FERM.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AGCGGGGAGACACCAAACATT	0.348																																						ENST00000395631.2																		ERO1L/FERMT2(2)	0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(1564-1566)gtG>gtA		fermitin family member 2							134.0	128.0	130.0					14																	53331155		2203	4300	6503	SO:0001819	synonymous_variant	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53331155C>T	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1566G>A	14.37:g.53331155C>T						FERMT2_ENST00000553373.1_Silent_p.V522V|FERMT2_ENST00000399304.3_Silent_p.V522V|FERMT2_ENST00000341590.3_Silent_p.V522V|FERMT2_ENST00000343279.4_Silent_p.V522V	p.V522V			Q96AC1	FERM2_HUMAN			12	1782	-	Breast(41;0.0342)		522			FERM.		B5TJY2|Q14840|Q86TY7	Silent	SNP	ENST00000395631.2	37	c.1566G>A	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	C	9.177	1.022600	0.19433	.	.	ENSG00000073712	ENST00000553663	T	0.79653	-1.29	5.86	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79364	-0.1834	6	.	.	.	.	8.6873	0.34245	0.2597:0.6712:0.0:0.0691	.	.	.	.	I	29	ENSP00000451134:V29I	.	V	-	1	0	FERMT2	52400905	0.767000	0.28508	1.000000	0.80357	0.987000	0.75469	-0.011000	0.12721	1.629000	0.50426	0.650000	0.86243	GTC		0.348	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		48	52	0	0	0	1	0	48	52				
HCG17	414778	broad.mit.edu	37	6	30227442	30227442	+	lincRNA	SNP	T	T	G			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr6:30227442T>G	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		CTGCTGCTCTTGGGGGCCCTG	0.706																																						ENST00000453558.1																			0																																																			0							g.chr6:30227442T>G	AB023055		6p21	2012-11-02	2008-08-13		ENSG00000241701	ENSG00000270604		"""Long non-coding RNAs"""	31339	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 46"", ""long intergenic non-protein coding RNA 46"""						Standard	NR_052012		Approved	NCRNA00046, LINC00046	uc031snc.1		OTTHUMG00000031114		6.37:g.30227442T>G						HLA-L_ENST00000463348.1_RNA								0	126	-									RNA	SNP	ENST00000453558.1	37																																																																																						0.706	HCG17-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000256054.1	NR_052012		6	22	0	0	0	1	0	6	22				
MED23	9439	broad.mit.edu	37	6	131915293	131915293	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr6:131915293G>A	ENST00000368068.3	-	23	3357	c.3178C>T	c.(3178-3180)Cct>Tct	p.P1060S	MED23_ENST00000354577.4_Missense_Mutation_p.P1066S|MED23_ENST00000368060.3_Missense_Mutation_p.P1060S|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000403834.3_Missense_Mutation_p.P1066S|MED23_ENST00000368058.1_Missense_Mutation_p.P1066S|MED23_ENST00000545957.1_Missense_Mutation_p.P701S	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1060					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GGAACCCAAGGATTTTCCTCT	0.428																																						ENST00000403834.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(3196-3198)Cct>Tct		mediator complex subunit 23							118.0	104.0	109.0					6																	131915293		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131915293G>A	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3178C>T	6.37:g.131915293G>A	ENSP00000357047:p.Pro1060Ser					MED23_ENST00000368060.3_Missense_Mutation_p.P1060S|MED23_ENST00000545957.1_Missense_Mutation_p.P701S|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000354577.4_Missense_Mutation_p.P1066S|MED23_ENST00000368058.1_Missense_Mutation_p.P1066S|MED23_ENST00000368068.3_Missense_Mutation_p.P1060S	p.P1066S			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	23	3369	-	Breast(56;0.0753)		1060					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.3196C>T	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	8.474	0.858130	0.17178	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	6.17	6.17	0.99709	.	0.096928	0.64402	D	0.000001	T	0.36193	0.0958	N	0.02802	-0.49	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.13407	0.009;0.004;0.002	T	0.51616	-0.8683	10	0.07175	T	0.84	-20.443	20.8794	0.99867	0.0:0.0:1.0:0.0	.	701;1060;1066	B4E3G4;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	S	1066;1060;1066;1060;1066;701	ENSP00000346588:P1066S;ENSP00000357047:P1060S;ENSP00000384536:P1066S;ENSP00000357039:P1060S;ENSP00000357037:P1066S;ENSP00000439977:P701S	ENSP00000346588:P1066S	P	-	1	0	MED23	131956986	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.136000	0.71703	2.941000	0.99782	0.655000	0.94253	CCT		0.428	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			27	33	0	0	0	1	0	27	33				
ZFYVE16	9765	broad.mit.edu	37	5	79741159	79741159	+	Missense_Mutation	SNP	A	A	G			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr5:79741159A>G	ENST00000338008.5	+	6	2839	c.2659A>G	c.(2659-2661)Aaa>Gaa	p.K887E	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.K887E|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.K887E	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	887					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AGATACAACAAAATTATCATC	0.348																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2659-2661)Aaa>Gaa		zinc finger, FYVE domain containing 16							120.0	114.0	116.0					5																	79741159		2203	4299	6502	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79741159A>G	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2659A>G	5.37:g.79741159A>G	ENSP00000337159:p.Lys887Glu					ZFYVE16_ENST00000510158.1_Missense_Mutation_p.K887E|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.K887E	p.K887E	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	6	2839	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	887					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.2659A>G	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475537	0.63737	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.41758	0.99;0.99;0.99	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000004	T	0.57989	0.2091	M	0.77103	2.36	0.34728	D	0.729456	P	0.46784	0.884	P	0.51974	0.686	T	0.68006	-0.5523	10	0.31617	T	0.26	-26.7919	16.3021	0.82825	1.0:0.0:0.0:0.0	.	887	Q7Z3T8	ZFY16_HUMAN	E	887	ENSP00000337159:K887E;ENSP00000423663:K887E;ENSP00000426848:K887E	ENSP00000337159:K887E	K	+	1	0	ZFYVE16	79776915	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.489000	0.73641	2.326000	0.78906	0.533000	0.62120	AAA		0.348	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		21	33	0	0	0	1	0	21	33				
ST6GAL2	84620	broad.mit.edu	37	2	107459777	107459777	+	Silent	SNP	C	C	T			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr2:107459777C>T	ENST00000409382.3	-	2	1267	c.657G>A	c.(655-657)ccG>ccA	p.P219P	ST6GAL2_ENST00000409087.3_Silent_p.P219P|ST6GAL2_ENST00000361686.4_Silent_p.P219P|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	219					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCTGCAGGCGCGGGTTCAGCA	0.642																																						ENST00000409382.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(655-657)ccG>ccA		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							41.0	42.0	42.0					2																	107459777		2203	4300	6503	SO:0001819	synonymous_variant	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107459777C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.657G>A	2.37:g.107459777C>T						ST6GAL2_ENST00000361686.4_Silent_p.P219P|ST6GAL2_ENST00000409087.3_Silent_p.P219P	p.P219P	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			2	1267	-			219					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	c.657G>A	CCDS2073.1																																																																																				0.642	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		11	7	0	0	0	1	0	11	7				
CLDN7	1366	broad.mit.edu	37	17	7163815	7163815	+	Missense_Mutation	SNP	A	A	C			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr17:7163815A>C	ENST00000360325.7	-	4	948	c.514T>G	c.(514-516)Tct>Gct	p.S172A	CLDN7_ENST00000538261.3_Silent_p.G143G|CLDN7_ENST00000573745.1_5'Flank|RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000397317.4_Missense_Mutation_p.S172A	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	172					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.S172A(1)		kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						ACTAGGGCAGACCCTGCCCAG	0.572																																						ENST00000360325.7																			1	Substitution - Missense(1)	p.S172A(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						c.(514-516)Tct>Gct		claudin 7																																				SO:0001583	missense	1366				calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity	g.chr17:7163815A>C	AJ011497	CCDS11096.1, CCDS54081.1	17p13.1	2013-09-20			ENSG00000181885	ENSG00000181885		"""Claudins"""	2049	protein-coding gene	gene with protein product		609131		CEPTRL2, CPETRL2		9892664	Standard	NM_001307		Approved	Hs.84359	uc002gfm.4	O95471	OTTHUMG00000178005	ENST00000360325.7:c.514T>G	17.37:g.7163815A>C	ENSP00000353475:p.Ser172Ala					CLDN7_ENST00000538261.3_Silent_p.G143G|RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000397317.4_Missense_Mutation_p.S172A	p.S172A	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN			4	948	-			172					B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0	Missense_Mutation	SNP	ENST00000360325.7	37	c.514T>G	CCDS11096.1	.	.	.	.	.	.	.	.	.	.	A	3.194	-0.165202	0.06461	.	.	ENSG00000181885	ENST00000360325;ENST00000397317	D;D	0.87650	-2.28;-2.28	4.92	4.92	0.64577	.	0.115272	0.64402	D	0.000011	T	0.71962	0.3402	N	0.11651	0.15	0.80722	D	1	B	0.15141	0.012	B	0.17722	0.019	T	0.66532	-0.5900	10	0.02654	T	1	.	12.8138	0.57654	1.0:0.0:0.0:0.0	.	172	O95471	CLD7_HUMAN	A	172	ENSP00000353475:S172A;ENSP00000396638:S172A	ENSP00000353475:S172A	S	-	1	0	CLDN7	7104539	0.032000	0.19561	1.000000	0.80357	0.949000	0.60115	0.407000	0.21049	2.197000	0.70478	0.402000	0.26972	TCT		0.572	CLDN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440204.2	NM_001307		4	7	0	0	0	1	0	4	7				
ANKRD30A	91074	broad.mit.edu	37	10	37430947	37430947	+	Nonsense_Mutation	SNP	G	G	A			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr10:37430947G>A	ENST00000602533.1	+	7	1053	c.954G>A	c.(952-954)tgG>tgA	p.W318*	ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.W318*|ANKRD30A_ENST00000374660.1_Nonsense_Mutation_p.W318*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	374					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AATTTACGTGGCCAGCAAAAG	0.423																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(952-954)tgG>tgA		ankyrin repeat domain 30A							101.0	101.0	101.0					10																	37430947		1858	4093	5951	SO:0001587	stop_gained	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430947G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.954G>A	10.37:g.37430947G>A	ENSP00000473551:p.Trp318*					ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.W318*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.W318*	p.W318*			Q9BXX3	AN30A_HUMAN			7	1053	+			374					Q5W025	Nonsense_Mutation	SNP	ENST00000602533.1	37	c.954G>A		.	.	.	.	.	.	.	.	.	.	.	15.47	2.843402	0.51057	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	.	.	.	0.0465	0.0465	0.14256	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	.	.	.	.	.	.	.	X	318	.	ENSP00000354432:W318X	W	+	3	0	ANKRD30A	37470953	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	-1.318000	0.02705	0.132000	0.18615	0.134000	0.15878	TGG		0.423	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		21	80	0	0	0	1	0	21	80				
FCRL5	83416	broad.mit.edu	37	1	157491070	157491070	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr1:157491070C>T	ENST00000361835.3	-	11	2409	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H	FCRL5_ENST00000356953.4_Missense_Mutation_p.R751H|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	751					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGGACCGGGCGAGACACCGG	0.507																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(2251-2253)cGc>cAc		Fc receptor-like 5							26.0	30.0	29.0					1																	157491070		2203	4298	6501	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157491070C>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2252G>A	1.37:g.157491070C>T	ENSP00000354691:p.Arg751His					FCRL5_ENST00000356953.4_Missense_Mutation_p.R751H|FCRL5_ENST00000461387.1_5'UTR	p.R751H	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			11	2409	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	751					A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.2252G>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	9.161	1.018616	0.19355	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.03496	3.91;3.91	5.24	-0.308	0.12773	.	1.311810	0.05566	N	0.570335	T	0.04003	0.0112	M	0.62723	1.935	0.19575	N	0.999962	D;D	0.71674	0.994;0.998	P;D	0.64877	0.565;0.93	T	0.25882	-1.0119	10	0.33940	T	0.23	.	2.8556	0.05571	0.3071:0.3261:0.2811:0.0858	.	751;751	A6NJE8;Q96RD9	.;FCRL5_HUMAN	H	751	ENSP00000354691:R751H;ENSP00000349434:R751H	ENSP00000349434:R751H	R	-	2	0	FCRL5	155757694	0.000000	0.05858	0.146000	0.22360	0.021000	0.10359	-1.382000	0.02546	-0.206000	0.10203	0.650000	0.86243	CGC		0.507	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		8	24	0	0	0	1	0	8	24				
PRRC2A	7916	broad.mit.edu	37	6	31599394	31599394	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr6:31599394G>T	ENST00000376033.2	+	16	3178	c.2944G>T	c.(2944-2946)Gac>Tac	p.D982Y	PRRC2A_ENST00000376007.4_Missense_Mutation_p.D982Y	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	982	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCAAAGCCAGACCCACTCAA	0.567																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(2944-2946)Gac>Tac		proline-rich coiled-coil 2A							16.0	20.0	19.0					6																	31599394		1500	2703	4203	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31599394G>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2944G>T	6.37:g.31599394G>T	ENSP00000365201:p.Asp982Tyr					PRRC2A_ENST00000376007.4_Missense_Mutation_p.D982Y	p.D982Y	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			16	3178	+			982			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.2944G>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	4.997	0.185060	0.09495	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.02103	4.45;4.45	5.2	5.2	0.72013	.	0.104953	0.42420	D	0.000710	T	0.01156	0.0038	N	0.14661	0.345	0.46458	D	0.999054	P	0.38922	0.651	B	0.37833	0.259	T	0.66933	-0.5798	10	0.87932	D	0	-4.4076	17.6776	0.88235	0.0:0.0:1.0:0.0	.	982	P48634	PRC2A_HUMAN	Y	982;971;982;982;207	ENSP00000365175:D982Y;ENSP00000365201:D982Y	ENSP00000365175:D982Y	D	+	1	0	PRRC2A	31707373	1.000000	0.71417	0.998000	0.56505	0.452000	0.32318	3.428000	0.52792	2.722000	0.93159	0.655000	0.94253	GAC		0.567	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		10	10	1	0	7.48243e-07	1	7.6487e-07	10	10				
ASGR1	432	broad.mit.edu	37	17	7080598	7080598	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr17:7080598G>A	ENST00000269299.3	-	3	517	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	ASGR1_ENST00000574388.1_Intron|ASGR1_ENST00000380920.4_5'UTR|ASGR1_ENST00000572879.1_5'UTR	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	40					cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						AGGAGGAGGCGAGGTCCGGAG	0.682											OREG0024128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269299.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						c.(118-120)Cgc>Tgc		asialoglycoprotein receptor 1							62.0	71.0	68.0					17																	7080598		2203	4300	6503	SO:0001583	missense	432				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding	g.chr17:7080598G>A		CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"""C-type lectin domain containing"""	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.118C>T	17.37:g.7080598G>A	ENSP00000269299:p.Arg40Cys		OREG0024128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	639	ASGR1_ENST00000574388.1_Intron|ASGR1_ENST00000572879.1_5'UTR|ASGR1_ENST00000380920.4_5'UTR	p.R40C	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN			3	517	-			40					I3L1X1	Missense_Mutation	SNP	ENST00000269299.3	37	c.118C>T	CCDS11089.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763307	0.49574	.	.	ENSG00000141505	ENST00000269299	T	0.19394	2.15	4.92	-1.11	0.09840	Hepatic lectin, N-terminal (1);	0.486737	0.19342	N	0.116635	T	0.10380	0.0254	L	0.29908	0.895	0.20563	N	0.999886	B	0.06786	0.001	B	0.04013	0.001	T	0.17592	-1.0364	10	0.39692	T	0.17	.	0.7239	0.00945	0.3164:0.1533:0.3586:0.1718	.	40	P07306	ASGR1_HUMAN	C	40	ENSP00000269299:R40C	ENSP00000269299:R40C	R	-	1	0	ASGR1	7021322	0.622000	0.27085	0.001000	0.08648	0.936000	0.57629	0.378000	0.20569	-0.322000	0.08615	0.561000	0.74099	CGC		0.682	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220004.3	NM_001671		40	40	0	0	0	1	0	40	40				
TMEM175	84286	broad.mit.edu	37	4	952220	952220	+	Missense_Mutation	SNP	A	A	C			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr4:952220A>C	ENST00000264771.4	+	11	1636	c.1451A>C	c.(1450-1452)cAc>cCc	p.H484P	TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P|TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	484						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.H484P(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGCCCGAACACCCCCCGCCA	0.736																																						ENST00000264771.4																			1	Substitution - Missense(1)	p.H484P(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(1450-1452)cAc>cCc		transmembrane protein 175							7.0	10.0	9.0					4																	952220		2108	4121	6229	SO:0001583	missense	84286					integral to membrane		g.chr4:952220A>C	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.1451A>C	4.37:g.952220A>C	ENSP00000264771:p.His484Pro					TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P|TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P	p.H484P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		11	1636	+			484					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.1451A>C	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	A	6.831	0.522566	0.13066	.	.	ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204	T;T;T	0.44083	1.52;1.51;0.93	3.52	-7.04	0.01578	.	3.825800	0.01085	U	0.005077	T	0.17109	0.0411	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24048	-1.0171	10	0.34782	T	0.22	-15.717	8.4105	0.32640	0.4546:0.1236:0.4219:0.0	.	402;484	D3DVN5;Q9BSA9	.;TM175_HUMAN	P	484;368;402	ENSP00000264771:H484P;ENSP00000427039:H368P;ENSP00000423669:H402P	ENSP00000264771:H484P	H	+	2	0	TMEM175	942220	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.007000	0.03667	-2.236000	0.00713	-0.589000	0.04120	CAC		0.736	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		9	11	0	0	0	1	0	9	11				
MIER1	57708	broad.mit.edu	37	1	67424570	67424570	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr1:67424570G>A	ENST00000355356.3	+	5	528	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	MIER1_ENST00000371014.1_Missense_Mutation_p.E180K|MIER1_ENST00000401042.3_Missense_Mutation_p.E127K|MIER1_ENST00000355977.6_Missense_Mutation_p.E64K|MIER1_ENST00000371018.3_Missense_Mutation_p.E144K|MIER1_ENST00000371016.1_Missense_Mutation_p.E144K|MIER1_ENST00000401041.1_Missense_Mutation_p.E180K|MIER1_ENST00000357692.2_Missense_Mutation_p.E144K|MIER1_ENST00000479067.1_3'UTR	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	127	Glu-rich.				positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TCAGGAGGATGAAACTCAGTC	0.368																																						ENST00000357692.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						c.(430-432)Gaa>Aaa		mesoderm induction early response 1, transcriptional regulator							125.0	116.0	118.0					1																	67424570		1858	4102	5960	SO:0001583	missense	57708				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr1:67424570G>A		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.379G>A	1.37:g.67424570G>A	ENSP00000347514:p.Glu127Lys					MIER1_ENST00000371018.3_Missense_Mutation_p.E144K|MIER1_ENST00000371014.1_Missense_Mutation_p.E180K|MIER1_ENST00000355356.3_Missense_Mutation_p.E127K|MIER1_ENST00000401042.3_Missense_Mutation_p.E127K|MIER1_ENST00000401041.1_Missense_Mutation_p.E180K|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000371016.1_Missense_Mutation_p.E144K|MIER1_ENST00000355977.6_Missense_Mutation_p.E64K	p.E144K	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN			7	687	+			151			Glu-rich.		C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	ENST00000355356.3	37	c.430G>A	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	G	35	5.467607	0.96257	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000355977;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	T;T;T;T;T;T;T;T	0.50548	1.29;0.74;1.29;1.29;1.29;1.29;1.29;1.29	5.6	5.6	0.85130	.	0.266835	0.41294	D	0.000903	T	0.64983	0.2648	M	0.72894	2.215	0.51012	D	0.999901	P;P;P;D;P;P;P;D;P	0.56035	0.558;0.914;0.877;0.974;0.956;0.914;0.799;0.969;0.859	B;B;B;D;D;B;B;P;P	0.70487	0.314;0.359;0.38;0.969;0.931;0.359;0.38;0.766;0.67	T	0.65833	-0.6072	10	0.72032	D	0.01	-28.6429	20.0086	0.97443	0.0:0.0:1.0:0.0	.	144;144;127;127;64;151;144;180;180	Q5TAD2;Q32NC4;Q8N108-3;Q8N108-6;Q08AE0;Q8N108;Q8N108-10;Q5TAD5;Q5TAD4	.;.;.;.;.;MIER1_HUMAN;.;.;.	K	148;144;64;144;180;144;180;127;127	ENSP00000360057:E144K;ENSP00000348253:E64K;ENSP00000350321:E144K;ENSP00000383820:E180K;ENSP00000360055:E144K;ENSP00000360053:E180K;ENSP00000383821:E127K;ENSP00000347514:E127K	ENSP00000347514:E127K	E	+	1	0	MIER1	67197158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.845000	0.86875	2.814000	0.96858	0.655000	0.94253	GAA		0.368	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948		22	29	0	0	0	1	0	22	29				
ZMIZ2	83637	broad.mit.edu	37	7	44806203	44806203	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr7:44806203G>A	ENST00000309315.4	+	18	2719	c.2596G>A	c.(2596-2598)Ggc>Agc	p.G866S	ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.G866S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.G834S|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.G840S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.G808S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	866	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCCTGCCACAGGCGTGATGGG	0.672																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2596-2598)Ggc>Agc		zinc finger, MIZ-type containing 2							32.0	37.0	35.0					7																	44806203		1864	4105	5969	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44806203G>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2596G>A	7.37:g.44806203G>A	ENSP00000311778:p.Gly866Ser					ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.G866S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.G834S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.G808S|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.G840S	p.G866S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			18	2719	+			866			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.2596G>A	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945834	0.34377	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.29917	1.55;1.56;1.56;1.56;1.55	5.19	2.35	0.29111	.	0.211713	0.32416	N	0.006139	T	0.22282	0.0537	L	0.46157	1.445	0.35007	D	0.756486	B;B;B;B	0.09022	0.002;0.002;0.001;0.002	B;B;B;B	0.20767	0.007;0.031;0.014;0.019	T	0.20042	-1.0287	10	0.09338	T	0.73	-3.0465	8.9443	0.35749	0.3073:0.0:0.6927:0.0	.	489;840;866;808	B3KR25;Q8NF64-2;Q8NF64;Q8NF64-3	.;.;ZMIZ2_HUMAN;.	S	808;866;866;834;840;869	ENSP00000409648:G808S;ENSP00000311778:G866S;ENSP00000414723:G866S;ENSP00000396601:G834S;ENSP00000265346:G840S	ENSP00000265346:G840S	G	+	1	0	ZMIZ2	44772728	0.361000	0.24972	0.626000	0.29213	0.982000	0.71751	0.654000	0.24918	0.766000	0.33244	0.563000	0.77884	GGC		0.672	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		34	32	0	0	0	1	0	34	32				
CLDN10	9071	broad.mit.edu	37	13	96212468	96212468	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr13:96212468G>T	ENST00000299339.2	+	2	332	c.303G>T	c.(301-303)atG>atT	p.M101I	CLDN10_ENST00000376855.1_Missense_Mutation_p.M19I|CLDN10_ENST00000376873.3_Missense_Mutation_p.M99I	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	101					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TCTTTGGAATGAAGTGTACCA	0.428																																						ENST00000376873.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15						c.(295-297)atG>atT		claudin 10							141.0	126.0	131.0					13																	96212468		2203	4300	6503	SO:0001583	missense	9071				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr13:96212468G>T	U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"""Claudins"""	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000299339.2:c.303G>T	13.37:g.96212468G>T	ENSP00000299339:p.Met101Ile					CLDN10_ENST00000376855.1_Missense_Mutation_p.M19I|CLDN10_ENST00000299339.2_Missense_Mutation_p.M101I	p.M99I	NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.18)		2	527	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		101					Q6IBF9|Q96N78	Missense_Mutation	SNP	ENST00000299339.2	37	c.297G>T	CCDS9476.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110150	0.94292	.	.	ENSG00000134873	ENST00000376873;ENST00000299339;ENST00000376855	D;D;D	0.89270	-2.49;-2.49;-2.49	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.95526	0.8546	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94550	0.7753	10	0.40728	T	0.16	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	101;101;99	Q6IBF9;P78369;Q96N78	.;CLD10_HUMAN;.	I	99;101;19	ENSP00000366069:M99I;ENSP00000299339:M101I;ENSP00000366051:M19I	ENSP00000299339:M101I	M	+	3	0	CLDN10	95010469	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.559000	0.82265	2.701000	0.92244	0.650000	0.86243	ATG		0.428	CLDN10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045484.1	NM_006984		36	38	1	0	9.04072e-19	1	1.01432e-18	36	38				
MAP4K3	8491	broad.mit.edu	37	2	39517448	39517448	+	Silent	SNP	A	A	G			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr2:39517448A>G	ENST00000263881.3	-	19	1623	c.1299T>C	c.(1297-1299)ccT>ccC	p.P433P	MAP4K3_ENST00000474502.1_5'Flank|MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000437545.1_Silent_p.P349P|MAP4K3_ENST00000341681.5_Silent_p.P412P	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	433					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTGGCAAAGGAGGTGGAATTT	0.279																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1297-1299)ccT>ccC		mitogen-activated protein kinase kinase kinase kinase 3							70.0	75.0	73.0					2																	39517448		2203	4298	6501	SO:0001819	synonymous_variant	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39517448A>G	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1299T>C	2.37:g.39517448A>G						MAP4K3_ENST00000437545.1_Silent_p.P349P|MAP4K3_ENST00000341681.5_Silent_p.P412P|MAP4K3_ENST00000536018.1_5'UTR	p.P433P	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			19	1623	-		all_hematologic(82;0.211)	433					Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Silent	SNP	ENST00000263881.3	37	c.1299T>C	CCDS1803.1																																																																																				0.279	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		15	18	0	0	0	1	0	15	18				
MPHOSPH10	10199	broad.mit.edu	37	2	71376384	71376384	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr2:71376384C>T	ENST00000244230.2	+	10	2049	c.1697C>T	c.(1696-1698)gCt>gTt	p.A566V		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	566					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						ATAAAAACAGCTGCTGAAAAA	0.333																																						ENST00000244230.2																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						c.(1696-1698)gCt>gTt		M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)							32.0	30.0	31.0					2																	71376384		2199	4297	6496	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71376384C>T	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1697C>T	2.37:g.71376384C>T	ENSP00000244230:p.Ala566Val						p.A566V	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN			10	2049	+			566					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.1697C>T	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399069	0.62177	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.10288	2.89;2.89	5.64	1.51	0.23008	.	0.150176	0.64402	D	0.000020	T	0.10121	0.0248	L	0.43152	1.355	0.26712	N	0.97094	P	0.36392	0.551	B	0.40256	0.324	T	0.13656	-1.0501	10	0.37606	T	0.19	.	7.8338	0.29358	0.3885:0.3492:0.2623:0.0	.	566	O00566	MPP10_HUMAN	V	566;426	ENSP00000244230:A566V;ENSP00000393034:A426V	ENSP00000244230:A566V	A	+	2	0	MPHOSPH10	71229892	0.960000	0.32886	0.997000	0.53966	0.997000	0.91878	1.828000	0.39111	0.806000	0.34183	0.655000	0.94253	GCT		0.333	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		6	8	0	0	0	1	0	6	8				
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	byFrequency	TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607													.|||	94	0.01877	0.0469	0.0173	5008	,	,		18765	0.0		0.0169	False		,,,				2504	0.0031					ENST00000564451.1																			2	Substitution - coding silent(2)	p.D118D(2)	kidney(2)																																																0							g.chr16:90161618C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161618C>T						TUBB8P7_ENST00000567960.1_RNA								0	971	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.607	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	25	0	0	0	1	0	3	25				
ROBO1	6091	broad.mit.edu	37	3	78685178	78685178	+	Missense_Mutation	SNP	C	C	G			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr3:78685178C>G	ENST00000464233.1	-	23	3231	c.3118G>C	c.(3118-3120)Gat>Cat	p.D1040H	ROBO1_ENST00000436010.2_Missense_Mutation_p.D1001H|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Missense_Mutation_p.D995H	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1040					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGGTCCACATCACCATAAACA	0.398																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(3001-3003)Gat>Cat		roundabout, axon guidance receptor, homolog 1 (Drosophila)							92.0	92.0	92.0					3																	78685178		1959	4144	6103	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78685178C>G	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3118G>C	3.37:g.78685178C>G	ENSP00000420321:p.Asp1040His					ROBO1_ENST00000464233.1_Missense_Mutation_p.D1040H|ROBO1_ENST00000495273.1_Missense_Mutation_p.D995H|ROBO1_ENST00000467549.1_Intron	p.D1001H			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	21	3998	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1040					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.3001G>C	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020101	0.75275	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000398414	T;T;T	0.63744	-0.02;-0.06;0.12	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.76176	0.3951	L	0.51422	1.61	0.80722	D	1	D;B;D;D	0.89917	1.0;0.035;0.999;0.987	D;B;D;D	0.87578	0.998;0.017;0.934;0.935	T	0.72391	-0.4308	9	.	.	.	.	20.1875	0.98223	0.0:1.0:0.0:0.0	.	1004;1040;995;1001	Q9Y6N7-3;Q9Y6N7;B2RXI1;Q9Y6N7-4	.;ROBO1_HUMAN;.;.	H	1001;995;1040;995;1044	ENSP00000406043:D1001H;ENSP00000420321:D1040H;ENSP00000420637:D995H	.	D	-	1	0	ROBO1	78767868	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.755000	0.68750	2.760000	0.94817	0.644000	0.83932	GAT		0.398	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		21	32	0	0	0	1	0	21	32				
DNMT3B	1789	broad.mit.edu	37	20	31385104	31385104	+	Splice_Site	SNP	C	C	T			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr20:31385104C>T	ENST00000328111.2	+	14	1810	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	DNMT3B_ENST00000201963.3_Splice_Site_p.R489W|DNMT3B_ENST00000344505.4_Splice_Site_p.R477W|DNMT3B_ENST00000348286.2_Splice_Site_p.R477W|DNMT3B_ENST00000353855.2_Splice_Site_p.R477W|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000456297.2_Splice_Site_p.R401W|DNMT3B_ENST00000443239.3_Splice_Site_p.R435W	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	497	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGCTGCTGCCGGTGAGCACT	0.572																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.e14+1		DNA (cytosine-5-)-methyltransferase 3 beta							58.0	60.0	59.0					20																	31385104		2203	4300	6503	SO:0001630	splice_region_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31385104C>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1490+1C>T	20.37:g.31385104C>T						DNMT3B_ENST00000353855.2_Splice_Site_p.R477_splice|DNMT3B_ENST00000348286.2_Splice_Site_p.R477_splice|DNMT3B_ENST00000201963.3_Splice_Site_p.R489_splice|DNMT3B_ENST00000344505.4_Splice_Site_p.R477_splice|DNMT3B_ENST00000456297.2_Splice_Site_p.R401_splice|DNMT3B_ENST00000443239.3_Splice_Site_p.R435_splice|DNMT3B_ENST00000375623.4_3'UTR	p.R497_splice	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			14	1810	+			497			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Splice_Site	SNP	ENST00000328111.2	37	c.1490_splice	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124428	0.77436	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.43	3.32	0.38043	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.88373	0.6419	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999;1.0;0.999	D	0.90180	0.4242	10	0.87932	D	0	-23.791	12.8122	0.57645	0.4451:0.5549:0.0:0.0	.	401;435;196;489;477;477;497	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	W	497;477;477;435;401;477;489	ENSP00000328547:R497W;ENSP00000313397:R477W;ENSP00000337764:R477W;ENSP00000403169:R435W;ENSP00000412305:R401W;ENSP00000345105:R477W;ENSP00000201963:R489W	ENSP00000201963:R489W	R	+	1	2	DNMT3B	30848765	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	2.890000	0.48609	1.364000	0.46038	0.655000	0.94253	CGG		0.572	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	Missense_Mutation	38	41	0	0	0	1	0	38	41				
KIF13A	63971	broad.mit.edu	37	6	17826029	17826029	+	Nonsense_Mutation	SNP	C	C	A			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr6:17826029C>A	ENST00000259711.6	-	16	1861	c.1756G>T	c.(1756-1758)Gaa>Taa	p.E586*	KIF13A_ENST00000378843.2_Nonsense_Mutation_p.E586*|KIF13A_ENST00000378816.5_Nonsense_Mutation_p.E586*|KIF13A_ENST00000378814.5_Nonsense_Mutation_p.E586*|KIF13A_ENST00000378826.2_Nonsense_Mutation_p.E586*	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	586					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATGATAACTTCCATCTGTGCA	0.473																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1756-1758)Gaa>Taa		kinesin family member 13A							105.0	105.0	105.0					6																	17826029		1931	4135	6066	SO:0001587	stop_gained	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17826029C>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1756G>T	6.37:g.17826029C>A	ENSP00000259711:p.Glu586*					KIF13A_ENST00000378843.2_Nonsense_Mutation_p.E586*|KIF13A_ENST00000378826.2_Nonsense_Mutation_p.E586*|KIF13A_ENST00000259711.6_Nonsense_Mutation_p.E586*|KIF13A_ENST00000378816.5_Nonsense_Mutation_p.E586*	p.E586*	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		16	1755	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	586					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Nonsense_Mutation	SNP	ENST00000259711.6	37	c.1756G>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358434	0.95854	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.	.	.	6.08	4.32	0.51571	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.814	0.57654	0.0:0.8688:0.0:0.1312	.	.	.	.	X	586	.	ENSP00000259711:E586X	E	-	1	0	KIF13A	17934008	1.000000	0.71417	0.946000	0.38457	0.219000	0.24729	7.432000	0.80349	0.922000	0.37019	-0.136000	0.14681	GAA		0.473	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			31	33	1	0	7.01153e-11	1	7.6793e-11	31	33				
OR5D16	390144	broad.mit.edu	37	11	55607153	55607153	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr11:55607153C>A	ENST00000378396.1	+	1	926	c.926C>A	c.(925-927)aCa>aAa	p.T309K		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ATAATCAATACAAAATATTTT	0.328																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(925-927)aCa>aAa		olfactory receptor, family 5, subfamily D, member 16							19.0	22.0	21.0					11																	55607153		2189	4269	6458	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55607153C>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.926C>A	11.37:g.55607153C>A	ENSP00000367649:p.Thr309Lys						p.T309K	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	926	+		all_epithelial(135;0.208)	309					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.926C>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	5.093	0.202744	0.09652	.	.	ENSG00000205029	ENST00000378396	T	0.34472	1.36	3.52	-4.58	0.03410	.	.	.	.	.	T	0.08626	0.0214	N	0.02120	-0.675	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.32134	-0.9918	9	0.02654	T	1	2.9606	2.0482	0.03565	0.148:0.179:0.1466:0.5264	.	309	Q8NGK9	OR5DG_HUMAN	K	309	ENSP00000367649:T309K	ENSP00000367649:T309K	T	+	2	0	OR5D16	55363729	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-2.752000	0.00791	-0.492000	0.06687	0.530000	0.56133	ACA		0.328	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		10	9	1	0	9.70103e-10	1	1.03778e-09	10	9				
CCDC107	203260	broad.mit.edu	37	9	35660414	35660414	+	Missense_Mutation	SNP	C	C	T	rs201836449		TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr9:35660414C>T	ENST00000426546.2	+	3	341	c.275C>T	c.(274-276)gCg>gTg	p.A92V	ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000421582.2_Missense_Mutation_p.A92V|CCDC107_ENST00000378406.1_Missense_Mutation_p.A92V|CCDC107_ENST00000378407.3_Missense_Mutation_p.A92V|CCDC107_ENST00000378409.3_Missense_Mutation_p.A92V|ARHGEF39_ENST00000490970.1_5'Flank|RMRP_ENST00000602361.1_lincRNA|ARHGEF39_ENST00000378387.3_3'UTR|CCDC107_ENST00000327351.2_Missense_Mutation_p.A92V|ARHGEF39_ENST00000343259.3_3'UTR	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	92						integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GATGAAACTGCGGTTCTCCAC	0.547																																						ENST00000421582.2																			0				endometrium(1)|lung(3)|skin(1)	5						c.(274-276)gCg>gTg		coiled-coil domain containing 107							81.0	83.0	83.0					9																	35660414		2203	4300	6503	SO:0001583	missense	203260					integral to membrane		g.chr9:35660414C>T	AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.275C>T	9.37:g.35660414C>T	ENSP00000414964:p.Ala92Val					ARHGEF39_ENST00000343259.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000426546.2_Missense_Mutation_p.A92V|CCDC107_ENST00000378406.1_Missense_Mutation_p.A92V|CCDC107_ENST00000327351.2_Missense_Mutation_p.A92V|CCDC107_ENST00000378407.3_Missense_Mutation_p.A92V|ARHGEF39_ENST00000378387.3_3'UTR|CCDC107_ENST00000378409.3_Missense_Mutation_p.A92V	p.A92V			Q8WV48	CC107_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		3	338	+	all_epithelial(49;0.217)		92					A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Missense_Mutation	SNP	ENST00000426546.2	37	c.275C>T	CCDS6583.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	10.51	1.371778	0.24857	.	.	ENSG00000159884	ENST00000378407;ENST00000378406;ENST00000426546;ENST00000327351;ENST00000421582;ENST00000378409	T;T;T;T;T	0.34472	1.53;1.53;1.76;1.53;1.36	4.43	4.43	0.53597	.	0.690035	0.13703	N	0.368658	T	0.37544	0.1007	L	0.36672	1.1	0.51233	D	0.999913	P;D;P;P	0.56287	0.918;0.975;0.918;0.918	B;P;B;B	0.49085	0.361;0.6;0.361;0.255	T	0.08289	-1.0729	10	0.49607	T	0.09	-0.5735	12.8581	0.57897	0.0:1.0:0.0:0.0	.	92;92;92;92	F8W8S5;Q8WV48;Q8WV48-4;Q8WV48-2	.;CC107_HUMAN;.;.	V	92	ENSP00000367662:A92V;ENSP00000367661:A92V;ENSP00000414964:A92V;ENSP00000330327:A92V;ENSP00000367665:A92V	ENSP00000330327:A92V	A	+	2	0	CCDC107	35650414	0.088000	0.21588	0.036000	0.18154	0.052000	0.14988	3.383000	0.52471	2.761000	0.94854	0.655000	0.94253	GCG		0.547	CCDC107-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052325.1	NM_174923		21	35	0	0	0	1	0	21	35				
ANKFN1	162282	broad.mit.edu	37	17	54554926	54554926	+	Silent	SNP	C	C	T	rs146488724	byFrequency	TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr17:54554926C>T	ENST00000318698.2	+	15	1895	c.1860C>T	c.(1858-1860)agC>agT	p.S620S	ANKFN1_ENST00000566473.2_Silent_p.S620S	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	620										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AGCTCTGTAGCTCTGTGGATC	0.373													C|||	3	0.000599042	0.0	0.0	5008	,	,		18983	0.0		0.001	False		,,,				2504	0.002					ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(1858-1860)agC>agT		ankyrin-repeat and fibronectin type III domain containing 1		C		0,4406		0,0,2203	128.0	124.0	126.0		1860	2.5	1.0	17	dbSNP_134	126	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ANKFN1	NM_153228.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		620/764	54554926	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54554926C>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1860C>T	17.37:g.54554926C>T						ANKFN1_ENST00000318698.2_Silent_p.S620S	p.S620S			Q8N957	ANKF1_HUMAN			15	1860	+			620						Silent	SNP	ENST00000318698.2	37	c.1860C>T	CCDS32686.1																																																																																				0.373	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		36	59	0	0	0	1	0	36	59				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	201	0	0	0	1	0	5	201				
STAB1	23166	broad.mit.edu	37	3	52551013	52551013	+	Silent	SNP	C	C	T	rs530152456	byFrequency	TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr3:52551013C>T	ENST00000321725.6	+	42	4453	c.4377C>T	c.(4375-4377)tgC>tgT	p.C1459C		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1459	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGGACCCCTGCGCCCACGGCC	0.662													c|||	5	0.000998403	0.0	0.0	5008	,	,		15545	0.0		0.0	False		,,,				2504	0.0051					ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(4375-4377)tgC>tgT		stabilin 1							43.0	48.0	46.0					3																	52551013		2203	4299	6502	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52551013C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4377C>T	3.37:g.52551013C>T							p.C1459C	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	42	4453	+			1459			EGF-like 11.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.4377C>T	CCDS33768.1																																																																																				0.662	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		32	31	0	0	0	1	0	32	31				
ZNF235	9310	broad.mit.edu	37	19	44793323	44793323	+	Missense_Mutation	SNP	T	T	C	rs375449680		TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr19:44793323T>C	ENST00000291182.4	-	5	367	c.265A>G	c.(265-267)Act>Gct	p.T89A	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	89					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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TTGTGAAGAGTTGCCATCTCA	0.408																																						ENST00000291182.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(265-267)Act>Gct		zinc finger protein 235		T	ALA/THR	0,4394		0,0,2197	37.0	38.0	38.0		265	2.8	0.2	19		38	1,8585		0,1,4292	no	missense	ZNF235	NM_004234.4	58	0,1,6489	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	89/739	44793323	1,12979	2197	4293	6490	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44793323T>C	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.265A>G	19.37:g.44793323T>C	ENSP00000291182:p.Thr89Ala					ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	p.T89A	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN			5	367	-		Prostate(69;0.0352)|all_neural(266;0.116)	89					B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.265A>G	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	T	11.09	1.536719	0.27475	0.0	1.16E-4	ENSG00000159917	ENST00000433015;ENST00000391957;ENST00000291182;ENST00000359844	T	0.05081	3.5	3.92	2.85	0.33270	.	0.204971	0.24592	N	0.037218	T	0.04182	0.0116	L	0.48642	1.525	0.09310	N	1	B;B	0.33549	0.417;0.293	B;B	0.28011	0.085;0.039	T	0.34950	-0.9808	10	0.07644	T	0.81	.	3.9709	0.09452	0.186:0.1021:0.0:0.7119	.	85;89	Q14590-2;Q14590	.;ZN235_HUMAN	A	85;89;89;11	ENSP00000291182:T89A	ENSP00000291182:T89A	T	-	1	0	ZNF235	49485163	0.001000	0.12720	0.210000	0.23637	0.150000	0.21749	0.368000	0.20399	0.609000	0.30018	0.379000	0.24179	ACT		0.408	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			31	30	0	0	0	1	0	31	30				
CR1L	1379	broad.mit.edu	37	1	207867727	207867727	+	Missense_Mutation	SNP	G	G	C	rs371954344		TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr1:207867727G>C	ENST00000508064.2	+	5	553	c.493G>C	c.(493-495)Gcc>Ccc	p.A165P	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	165	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCCACCATCGCCAATGGAGA	0.423																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(493-495)Gcc>Ccc		complement component (3b/4b) receptor 1-like							86.0	81.0	83.0					1																	207867727		1890	4114	6004	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207867727G>C	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.493G>C	1.37:g.207867727G>C	ENSP00000421736:p.Ala165Pro					CR1L_ENST00000530905.1_Intron	p.A165P	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			5	553	+			165			Sushi 3.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.493G>C	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	G	5.802	0.332207	0.10956	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.61274	0.12	1.86	-0.317	0.12736	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.35740	0.0942	N	0.16656	0.425	0.22342	N	0.999184	B	0.21452	0.056	B	0.30251	0.113	T	0.27606	-1.0069	9	0.26408	T	0.33	.	3.025	0.06087	0.2017:0.313:0.4853:0.0	.	165	Q2VPA4	CR1L_HUMAN	P	165	ENSP00000421736:A165P	ENSP00000434864:A109P	A	+	1	0	CR1L	205934350	0.000000	0.05858	0.333000	0.25482	0.418000	0.31294	-1.218000	0.02976	-0.080000	0.12685	0.305000	0.20034	GCC		0.423	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		28	34	0	0	0	1	0	28	34				
IGFBP4	3487	broad.mit.edu	37	17	38610295	38610295	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr17:38610295G>A	ENST00000269593.4	+	3	898	c.623G>A	c.(622-624)gGc>gAc	p.G208D	IGFBP4_ENST00000542955.1_Missense_Mutation_p.G108D	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	208	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GACCGCAACGGCAACTTCCAC	0.662																																					GBM(160;940 3581 26177)	ENST00000269593.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						c.(622-624)gGc>gAc		insulin-like growth factor binding protein 4							123.0	116.0	118.0					17																	38610295		2203	4300	6503	SO:0001583	missense	3487				DNA metabolic process|signal transduction|skeletal system development			g.chr17:38610295G>A	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"""IGF-binding protein 4"""	146733	"""insulin-like growth factor-binding protein 4"""			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.623G>A	17.37:g.38610295G>A	ENSP00000269593:p.Gly208Asp					IGFBP4_ENST00000542955.1_Missense_Mutation_p.G108D	p.G208D	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	898	+		Breast(137;0.000496)	208			Thyroglobulin type-1.		A0N9W2|B4E351|Q5U012|Q9UCL6	Missense_Mutation	SNP	ENST00000269593.4	37	c.623G>A	CCDS11367.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110159	0.94292	.	.	ENSG00000141753	ENST00000542955;ENST00000269593	D;D	0.94758	-3.51;-3.51	5.91	5.91	0.95273	Thyroglobulin type-1 (5);	0.000000	0.85682	D	0.000000	D	0.97986	0.9337	M	0.92784	3.345	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98602	1.0659	10	0.87932	D	0	-26.9414	18.0867	0.89460	0.0:0.0:1.0:0.0	.	208	P22692	IBP4_HUMAN	D	108;208	ENSP00000437734:G108D;ENSP00000269593:G208D	ENSP00000269593:G208D	G	+	2	0	IGFBP4	35863821	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	8.446000	0.90329	2.793000	0.96121	0.655000	0.94253	GGC		0.662	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	NM_001552		4	115	0	0	0	1	0	4	115				
ZNF250	58500	broad.mit.edu	37	8	146108153	146108153	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr8:146108153C>A	ENST00000292579.7	-	6	546	c.430G>T	c.(430-432)Gtg>Ttg	p.V144L	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.V139L	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		CCCAGAATCACTGTTTGCTCT	0.393																																					NSCLC(16;520 556 24096 40084 43446)	ENST00000292579.7																			0				endometrium(4)|kidney(2)|lung(8)|skin(1)	15						c.(430-432)Gtg>Ttg		zinc finger protein 250							172.0	179.0	177.0					8																	146108153		2203	4300	6503	SO:0001583	missense	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146108153C>A	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.430G>T	8.37:g.146108153C>A	ENSP00000292579:p.Val144Leu					ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.V139L	p.V144L	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	546	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		144					D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	ENST00000292579.7	37	c.430G>T	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201582	0.38905	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912;ENST00000533221;ENST00000533622;ENST00000525694	T;T;T;T	0.06933	3.26;3.24;5.7;5.79	3.61	-7.23	0.01480	.	2.718490	0.01204	N	0.007645	T	0.07188	0.0182	L	0.49126	1.545	0.09310	N	1	B;B	0.13594	0.001;0.008	B;B	0.06405	0.001;0.002	T	0.30327	-0.9982	10	0.23302	T	0.38	-0.1204	4.3747	0.11265	0.6307:0.0869:0.0885:0.1939	.	139;144	D3DWP1;P15622	.;ZN250_HUMAN	L	144;139;139;118;139;139	ENSP00000292579:V144L;ENSP00000393442:V139L;ENSP00000433387:V139L;ENSP00000432450:V139L	ENSP00000292579:V144L	V	-	1	0	ZNF250	146078957	0.000000	0.05858	0.000000	0.03702	0.687000	0.40016	-0.646000	0.05403	-1.307000	0.02321	-0.678000	0.03780	GTG		0.393	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		74	223	1	0	6.30617e-38	1	7.25209e-38	74	223				
NXN	64359	broad.mit.edu	37	17	704350	704350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr17:704350G>A	ENST00000336868.3	-	8	1238	c.1147C>T	c.(1147-1149)Cga>Tga	p.R383*	NXN_ENST00000537628.2_Nonsense_Mutation_p.R134*|NXN_ENST00000575801.1_Nonsense_Mutation_p.R275*|NXN_ENST00000538650.1_Nonsense_Mutation_p.R74*	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	383					cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GTGTAATCTCGCAGGGAGTCA	0.582																																						ENST00000336868.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13						c.(1147-1149)Cga>Tga		nucleoredoxin							62.0	54.0	57.0					17																	704350		2203	4300	6503	SO:0001587	stop_gained	64359				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	g.chr17:704350G>A		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.1147C>T	17.37:g.704350G>A	ENSP00000337443:p.Arg383*					NXN_ENST00000575801.1_Nonsense_Mutation_p.R275*|NXN_ENST00000538650.1_Nonsense_Mutation_p.R74*|NXN_ENST00000537628.2_Nonsense_Mutation_p.R134*	p.R383*	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	8	1238	-			383					B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Nonsense_Mutation	SNP	ENST00000336868.3	37	c.1147C>T	CCDS10998.1	.	.	.	.	.	.	.	.	.	.	G	36	5.645201	0.96704	.	.	ENSG00000167693	ENST00000336868;ENST00000538650;ENST00000537628	.	.	.	5.99	2.51	0.30379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2103	15.3857	0.74699	0.0:0.0:0.6209:0.3791	.	.	.	.	X	383;74;275	.	ENSP00000337443:R383X	R	-	1	2	NXN	651100	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.607000	0.67648	0.802000	0.34089	-0.182000	0.12963	CGA		0.582	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			16	16	0	0	0	1	0	16	16				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	26	0	0	0	1	0	4	26				
PARD3B	117583	broad.mit.edu	37	2	205989150	205989150	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr2:205989150T>A	ENST00000406610.2	+	9	1472	c.1265T>A	c.(1264-1266)aTa>aAa	p.I422K	PARD3B_ENST00000351153.1_Missense_Mutation_p.I422K|PARD3B_ENST00000462231.1_Missense_Mutation_p.I422K|PARD3B_ENST00000358768.2_Missense_Mutation_p.I422K|PARD3B_ENST00000349953.3_Missense_Mutation_p.I422K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	422	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGAGCAGCAATAAAAGATGGC	0.393																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1264-1266)aTa>aAa		par-3 family cell polarity regulator beta							93.0	86.0	88.0					2																	205989150		1810	4082	5892	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205989150T>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1265T>A	2.37:g.205989150T>A	ENSP00000385848:p.Ile422Lys					PARD3B_ENST00000358768.2_Missense_Mutation_p.I422K|PARD3B_ENST00000462231.1_Missense_Mutation_p.I422K|PARD3B_ENST00000351153.1_Missense_Mutation_p.I422K|PARD3B_ENST00000349953.3_Missense_Mutation_p.I422K	p.I422K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	9	1472	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	422			PDZ 2.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.1265T>A		.	.	.	.	.	.	.	.	.	.	T	21.6	4.168889	0.78339	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.94	5.94	0.96194	PDZ/DHR/GLGF (4);	0.200934	0.52532	D	0.000070	T	0.34919	0.0914	N	0.12182	0.205	0.58432	D	0.999996	B;B;B;B;B	0.33637	0.213;0.007;0.42;0.016;0.041	B;B;P;B;B	0.55545	0.424;0.041;0.778;0.114;0.279	T	0.45175	-0.9279	10	0.66056	D	0.02	.	16.3908	0.83537	0.0:0.0:0.0:1.0	.	422;422;422;422;422	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	K	422	ENSP00000385848:I422K;ENSP00000351618:I422K;ENSP00000317261:I422K;ENSP00000340280:I422K	ENSP00000340280:I422K	I	+	2	0	PARD3B	205697395	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.662000	0.83803	2.269000	0.75478	0.455000	0.32223	ATA		0.393	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		12	98	0	0	0	1	0	12	98				
RIMS2	9699	broad.mit.edu	37	8	105160995	105160995	+	Missense_Mutation	SNP	C	C	T	rs376427500		TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr8:105160995C>T	ENST00000436393.2	+	23	3548	c.3307C>T	c.(3307-3309)Cgc>Tgc	p.R1103C	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0					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)			CAAAAAGCGGCGCTCTAGCCT	0.527										HNSCC(12;0.0054)																												ENST00000436393.2																			0				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						c.(3307-3309)Cgc>Tgc		regulating synaptic membrane exocytosis 2		C	,	0,1752		0,0,876	100.0	94.0	96.0		,	5.7	1.0	8		96	1,3981		0,1,1990	no	intron,intron	RIMS2	NM_001100117.2,NM_014677.4	,	0,1,2866	TT,TC,CC		0.0251,0.0,0.0174	,	,	105160995	1,5733	876	1991	2867	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105160995C>T	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.3307C>T	8.37:g.105160995C>T	ENSP00000390665:p.Arg1103Cys	HNSCC(12;0.0054)				RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron	p.R1103C			Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		23	3548	+			531					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3307C>T		.	.	.	.	.	.	.	.	.	.	C	27.6	4.847271	0.91277	0.0	2.51E-4	ENSG00000176406	ENST00000408894;ENST00000436393	T;T	0.31247	1.5;2.01	5.69	5.69	0.88448	.	.	.	.	.	T	0.60011	0.2236	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.61973	-0.6952	8	0.66056	D	0.02	.	19.8263	0.96618	0.0:1.0:0.0:0.0	.	1103	D6RA03	.	C	1092;1103	ENSP00000386228:R1092C;ENSP00000390665:R1103C	ENSP00000386228:R1092C	R	+	1	0	RIMS2	105230171	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.760000	0.85248	2.676000	0.91093	0.655000	0.94253	CGC		0.527	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		20	84	0	0	0	1	0	20	84				
PCDHA1	56147	broad.mit.edu	37	5	140165935	140165935	+	Silent	SNP	C	C	A			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr5:140165935C>A	ENST00000504120.2	+	1	60	c.60C>A	c.(58-60)ctC>ctA	p.L20L	PCDHA1_ENST00000394633.3_Silent_p.L20L|PCDHA1_ENST00000378133.3_Silent_p.L20L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	20					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTTCTGCTCCTCGCAGCCT	0.592																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(58-60)ctC>ctA									58.0	70.0	66.0					5																	140165935		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140165935C>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.60C>A	5.37:g.140165935C>A						PCDHA1_ENST00000378133.3_Silent_p.L20L|PCDHA1_ENST00000394633.3_Silent_p.L20L	p.L20L	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	60	+								O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.60C>A	CCDS54913.1																																																																																				0.592	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		6	111	1	0	3.59834e-05	1	3.59834e-05	6	111				
TEKT4	150483	broad.mit.edu	37	2	95539305	95539305	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr2:95539305G>A	ENST00000295201.4	+	2	676	c.539G>A	c.(538-540)aGa>aAa	p.R180K	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	180					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTGCTGAAGAGAACCATCATG	0.607																																						ENST00000295201.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(538-540)aGa>aAa		tektin 4							80.0	70.0	74.0					2																	95539305		2203	4300	6503	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95539305G>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.539G>A	2.37:g.95539305G>A	ENSP00000295201:p.Arg180Lys					AC097374.2_ENST00000568768.1_RNA	p.R180K	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			2	676	+			180						Missense_Mutation	SNP	ENST00000295201.4	37	c.539G>A	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	9.047	0.991079	0.18966	.	.	ENSG00000163060	ENST00000295201	T	0.02323	4.34	1.71	1.71	0.24356	.	0.103704	0.64402	D	0.000004	T	0.02230	0.0069	L	0.33753	1.03	0.80722	D	1	B	0.16396	0.017	B	0.23018	0.043	T	0.47573	-0.9107	10	0.11485	T	0.65	-4.0252	6.8102	0.23801	0.0:0.0:1.0:0.0	.	180	Q8WW24	TEKT4_HUMAN	K	180	ENSP00000295201:R180K	ENSP00000295201:R180K	R	+	2	0	TEKT4	94903032	1.000000	0.71417	0.997000	0.53966	0.770000	0.43624	2.107000	0.41844	0.941000	0.37499	0.306000	0.20318	AGA		0.607	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		16	24	0	0	0	1	0	16	24				
GRIA1	2890	broad.mit.edu	37	5	153144045	153144045	+	Silent	SNP	C	C	A			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr5:153144045C>A	ENST00000285900.5	+	12	2218	c.1875C>A	c.(1873-1875)atC>atA	p.I625I	GRIA1_ENST00000518142.1_Silent_p.I545I|GRIA1_ENST00000521843.2_Silent_p.I556I|GRIA1_ENST00000340592.5_Silent_p.I625I|GRIA1_ENST00000518783.1_Silent_p.I635I|GRIA1_ENST00000448073.4_Silent_p.I635I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	625					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TCACCTTAATCATCATCTCCT	0.542																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1873-1875)atC>atA		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						141.0	117.0	125.0					5																	153144045		2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153144045C>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1875C>A	5.37:g.153144045C>A						GRIA1_ENST00000521843.2_Silent_p.I556I|GRIA1_ENST00000448073.4_Silent_p.I635I|GRIA1_ENST00000518142.1_Silent_p.I545I|GRIA1_ENST00000518783.1_Silent_p.I635I|GRIA1_ENST00000340592.5_Silent_p.I625I	p.I625I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		12	2218	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	625					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.1875C>A	CCDS4322.1																																																																																				0.542	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			24	40	1	0	1.10923e-09	1	1.15965e-09	24	40				
NLGN3	54413	broad.mit.edu	37	X	70375183	70375183	+	Missense_Mutation	SNP	A	A	T			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chrX:70375183A>T	ENST00000358741.3	+	5	1000	c.697A>T	c.(697-699)Atc>Ttc	p.I233F	NLGN3_ENST00000374051.3_Missense_Mutation_p.I213F|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.I193F	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	233					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TGTCATCGTCATCACCCTCAA	0.532																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(637-639)Atc>Ttc		neuroligin 3							295.0	194.0	228.0					X																	70375183		2203	4300	6503	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70375183A>T	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.697A>T	X.37:g.70375183A>T	ENSP00000351591:p.Ile233Phe					NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.I193F|NLGN3_ENST00000358741.3_Missense_Mutation_p.I233F	p.I213F	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			4	959	+	Renal(35;0.156)		233					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.637A>T	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	A	19.66	3.868763	0.72065	.	.	ENSG00000196338	ENST00000536169;ENST00000542063;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	4.43	4.43	0.53597	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.82217	0.4989	M	0.76170	2.325	0.58432	D	0.999992	D;D;D;P	0.76494	0.993;0.999;0.957;0.947	P;D;P;P	0.71656	0.872;0.974;0.873;0.8	D	0.84676	0.0714	10	0.87932	D	0	.	13.0397	0.58891	1.0:0.0:0.0:0.0	.	193;193;233;213	D3DVV1;B7Z5Y1;Q9NZ94;Q9NZ94-2	.;.;NLGN3_HUMAN;.	F	193;96;213;193;233	ENSP00000445298:I193F;ENSP00000363163:I213F;ENSP00000379196:I193F;ENSP00000351591:I233F	ENSP00000351591:I233F	I	+	1	0	NLGN3	70291908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.097000	0.64542	1.646000	0.50622	0.438000	0.28831	ATC		0.532	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		4	47	0	0	0	1	0	4	47				
TP53BP2	7159	broad.mit.edu	37	1	223986326	223986326	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr1:223986326delT	ENST00000343537.7	-	12	1830	c.1539delA	c.(1537-1539)aaafs	p.K513fs	TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Frame_Shift_Del_p.K384fs	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	507					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AATTAATCTGTTTTGGTTTTG	0.383																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(1150-1152)aafs		tumor protein p53 binding protein, 2							71.0	74.0	73.0					1																	223986326		2203	4300	6503	SO:0001589	frameshift_variant	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223986326delT	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1539delA	1.37:g.223986326delT	ENSP00000341957:p.Lys513fs					TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Frame_Shift_Del_p.K513fs|TP53BP2_ENST00000391879.2_Intron	p.K384fs	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	13	1920	-			507					B4DG66|Q12892|Q86X75|Q96KQ3	Frame_Shift_Del	DEL	ENST00000343537.7	37	c.1152delA	CCDS44319.1																																																																																				0.383	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		55	6						55	6	---	---	---	---
KIAA2026	158358	broad.mit.edu	37	9	5968044	5968044	+	Frame_Shift_Del	DEL	T	T	-			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr9:5968044delT	ENST00000399933.3	-	3	2186	c.2187delA	c.(2185-2187)aaafs	p.K729fs	KIAA2026_ENST00000381461.2_Frame_Shift_Del_p.K729fs	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	729	Lys-rich.							p.A730fs*15(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGTGTTTTGCTTTTTTTTTGA	0.323																																						ENST00000399933.3																			1	Insertion - Frameshift(1)	p.A730fs*15(1)	central_nervous_system(1)	breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(2185-2187)aafs		KIAA2026				62,50,3390		0,0,62,0,50,1639	21.0	21.0	21.0			5.0	1.0	9		21	131,99,7540		2,0,127,0,99,3657	no	codingComplex	KIAA2026	NM_001017969.2		2,0,189,0,149,5296	A1A1,A1A2,A1R,A2A2,A2R,RR		2.9601,3.1982,3.0341			5968044	193,149,10930	1814	4062	5876	SO:0001589	frameshift_variant	158358							g.chr9:5968044delT	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2187delA	9.37:g.5968044delT	ENSP00000382815:p.Lys729fs					KIAA2026_ENST00000381461.2_Frame_Shift_Del_p.K729fs	p.K729fs	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	3	2186	-		Acute lymphoblastic leukemia(23;0.158)	729			Lys-rich.		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Frame_Shift_Del	DEL	ENST00000399933.3	37	c.2187delA																																																																																					0.323	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		2	4						2	4	---	---	---	---
HINT2	84681	broad.mit.edu	37	9	35813705	35813705	+	Frame_Shift_Del	DEL	G	G	-			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr9:35813705delG	ENST00000259667.5	-	2	199	c.158delC	c.(157-159)ccafs	p.P53fs	SPAG8_ENST00000396638.2_5'Flank|HINT2_ENST00000474908.1_5'UTR|SPAG8_ENST00000479751.1_5'Flank|SPAG8_ENST00000340291.2_5'Flank|SPAG8_ENST00000484764.1_5'Flank|TMEM8B_ENST00000377996.1_5'Flank|AL133410.1_ENST00000582432.1_RNA	NM_032593.2	NP_115982.1	Q9BX68	HINT2_HUMAN	histidine triad nucleotide binding protein 2	53					apoptotic process (GO:0006915)|steroid biosynthetic process (GO:0006694)	mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)			NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGATGGTTGGGGCTGCTCC	0.572											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(185;1694 2122 5473 25431 37228)	ENST00000259667.5																			0				NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(157-159)cafs		histidine triad nucleotide binding protein 2							53.0	48.0	49.0					9																	35813705		2203	4300	6503	SO:0001589	frameshift_variant	84681				apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity	g.chr9:35813705delG	AY033094	CCDS6594.1	9p11.2	2005-12-20			ENSG00000137133	ENSG00000137133			18344	protein-coding gene	gene with protein product		609997					Standard	NM_032593		Approved		uc003zyh.3	Q9BX68	OTTHUMG00000019886	ENST00000259667.5:c.158delC	9.37:g.35813705delG	ENSP00000259667:p.Pro53fs		OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	858	HINT2_ENST00000474908.1_5'UTR	p.P53fs	NM_032593.2	NP_115982.1	Q9BX68	HINT2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		2	199	-	all_epithelial(49;0.161)		53					Q5TCW3	Frame_Shift_Del	DEL	ENST00000259667.5	37	c.158delC	CCDS6594.1																																																																																				0.572	HINT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052390.1	NM_032593		13	22						13	22	---	---	---	---
TLE4	7091	broad.mit.edu	37	9	82187726	82187727	+	Frame_Shift_Ins	INS	-	-	ATGT			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr9:82187726_82187727insATGT	ENST00000376552.2	+	1	1039_1040	c.21_22insATGT	c.(22-24)atgfs	p.-9fs	TLE4_ENST00000265284.6_Frame_Shift_Ins_p.-9fs|TLE4_ENST00000376520.4_Frame_Shift_Ins_p.-9fs|TLE4_ENST00000376534.4_De_novo_Start_OutOfFrame|TLE4_ENST00000376537.4_Frame_Shift_Ins_p.-9fs|TLE4_ENST00000376544.3_Frame_Shift_Ins_p.-9fs	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACCTGAGCAAGATGTACCCGCA	0.683																																						ENST00000376534.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39								transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)																																				SO:0001589	frameshift_variant	7091							g.chr9:82187726_82187727insATGT	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.22_25dupATGT	9.37:g.82187727_82187730dupATGT	ENSP00000365735:p.Tyr9fs					TLE4_ENST00000376520.4_Frame_Shift_Ins_p.NV7fs|TLE4_ENST00000376544.3_Frame_Shift_Ins_p.NV7fs|TLE4_ENST00000376552.2_Frame_Shift_Ins_p.NV7fs|TLE4_ENST00000265284.6_Frame_Shift_Ins_p.NV7fs|TLE4_ENST00000376537.4_Frame_Shift_Ins_p.NV7fs				O60756	BCE1_HUMAN			0	187_188	+								F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Translation_Start_Site	INS	ENST00000376552.2	37		CCDS43837.1																																																																																				0.683	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		9	28						9	28	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17131536	17131537	+	lincRNA	INS	-	-	CTG	rs34452519|rs145731851	byFrequency	TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563									transmembrane phosphatase with tensin homology pseudogene 1																		TGCCCACTCTTCTGGTCTCATG	0.54														912	0.182109	0.0265	0.0865	5008	,	,		18499	0.2569		0.2256	False		,,,				2504	0.3384					ENST00000426585.1																			0																																																			0							g.chr22:17131536_17131537insCTG			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17131537_17131539dupCTG														0	2562_2563	+									RNA	INS	ENST00000426585.1	37																																																																																						0.540	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		2	4						2	4	---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30752730	30752730	+	Frame_Shift_Del	DEL	C	C	-			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chr22:30752730delC	ENST00000215793.8	-	1	206	c.52delG	c.(52-54)gagfs	p.E18fs	CCDC157_ENST00000405659.1_5'UTR|SF3A1_ENST00000439242.1_Frame_Shift_Del_p.E18fs|CCDC157_ENST00000338306.3_5'UTR|CCDC157_ENST00000399824.2_5'UTR	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	18					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TGTTTGGGCTCCGTGGGCACG	0.721																																						ENST00000439242.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(52-54)agfs		splicing factor 3a, subunit 1, 120kDa							5.0	7.0	6.0					22																	30752730		2074	4055	6129	SO:0001589	frameshift_variant	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30752730delC	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.52delG	22.37:g.30752730delC	ENSP00000215793:p.Glu18fs					CCDC157_ENST00000338306.3_5'UTR|SF3A1_ENST00000215793.7_Frame_Shift_Del_p.E18fs|CCDC157_ENST00000405659.1_5'UTR|CCDC157_ENST00000399824.2_5'UTR	p.E18fs	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN			1	183	-			18					E9PAW1	Frame_Shift_Del	DEL	ENST00000215793.8	37	c.52delG	CCDS13875.1																																																																																				0.721	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		2	4						2	4	---	---	---	---
UXT	8409	broad.mit.edu	37	X	47511500	47511500	+	Frame_Shift_Del	DEL	G	G	-			TCGA-M7-A724-01A-12D-A32B-08	TCGA-M7-A724-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da45f3a1-439a-45b0-8e3d-9761899018a9	ef22c980-b6f4-4ffc-a877-20515c382c67	g.chrX:47511500delG	ENST00000333119.3	-	6	455	c.400delC	c.(400-402)catfs	p.H134fs	ELK1_ENST00000376983.3_5'Flank|ELK1_ENST00000592066.1_5'Flank|ELK1_ENST00000247161.3_5'Flank|ELK1_ENST00000468956.1_5'Flank|UXT_ENST00000335890.2_Frame_Shift_Del_p.H146fs|UXT_ENST00000460840.1_5'UTR|ELK1_ENST00000343894.4_5'Flank	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	134					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						ATGTGGATATGGGCTTTGATA	0.488																																						ENST00000335890.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						c.(436-438)atfs		ubiquitously-expressed, prefoldin-like chaperone							127.0	101.0	110.0					X																	47511500		2203	4300	6503	SO:0001589	frameshift_variant	8409				centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding	g.chrX:47511500delG	AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"""androgen receptor trapped clone 27"", ""SKP2-associated alpha PFD 1"""	300234	"""ubiquitously-expressed transcript"""			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.400delC	X.37:g.47511500delG	ENSP00000327797:p.His134fs					UXT_ENST00000460840.1_5'UTR|UXT_ENST00000333119.3_Frame_Shift_Del_p.H134fs	p.H146fs	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN			5	589	-			134					B2R561|Q5JZG3|Q9Y6E5	Frame_Shift_Del	DEL	ENST00000333119.3	37	c.436delC	CCDS14285.1																																																																																				0.488	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056440.1	NM_153477		2	4						2	4	---	---	---	---
