#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CDC20	991	broad.mit.edu	37	1	43825460	43825460	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:43825460G>C	ENST00000372462.1	+	3	598	c.395G>C	c.(394-396)cGg>cCg	p.R132P	CDC20_ENST00000478882.1_3'UTR|RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000310955.6_Missense_Mutation_p.R132P			Q12834	CDC20_HUMAN	cell division cycle 20	132					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAGATCCTTCGGCTCAGTGGA	0.502																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)	uc001cix.2		NA																	0					0						c.(394-396)CGG>CCG		cell division cycle 20							101.0	108.0	106.0					1																	43825460		2203	4300	6503	SO:0001583	missense	991				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding	g.chr1:43825460G>C	U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.395G>C	1.37:g.43825460G>C	ENSP00000361540:p.Arg132Pro					CDC20_uc001ciy.2_Missense_Mutation_p.R132P	p.R132P	NM_001255	NP_001246	Q12834	CDC20_HUMAN			4	496	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	132	R->A: Loss of interaction with MAD2L1.				B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	ENST00000372462.1	37	c.395G>C	CCDS484.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589096	0.46110	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.55234	0.53;0.53	5.74	5.74	0.90152	.	0.054610	0.64402	D	0.000001	T	0.56863	0.2014	M	0.76170	2.325	0.51233	D	0.99991	P	0.45531	0.86	B	0.38954	0.286	T	0.62676	-0.6804	10	0.48119	T	0.1	-11.8284	19.9295	0.97114	0.0:0.0:1.0:0.0	.	132	Q12834	CDC20_HUMAN	P	108;132;132	ENSP00000308450:R132P;ENSP00000361540:R132P	ENSP00000308450:R132P	R	+	2	0	CDC20	43598047	1.000000	0.71417	0.956000	0.39512	0.982000	0.71751	5.358000	0.66064	2.695000	0.91970	0.655000	0.94253	CGG		0.502	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		102	164	0	0	0	0	102	164				
SZT2	23334	broad.mit.edu	37	1	43881682	43881682	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:43881682G>A	ENST00000562955.1	+	6	682	c.682G>A	c.(682-684)Gtc>Atc	p.V228I		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	228					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GAAGGTAGGCGTCTCCATGGT	0.552																																						uc009vws.1		NA																	0					0						c.(682-684)GTC>ATC		Homo sapiens mRNA for KIAA0467 protein, partial cds.							45.0	40.0	42.0					1																	43881682		876	1991	2867	SO:0001583	missense	23334					peroxisome		g.chr1:43881682G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.682G>A	1.37:g.43881682G>A	ENSP00000457168:p.Val228Ile						p.V228I			Q5T011	SZT2_HUMAN			6	766	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	228					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.682G>A	CCDS30694.2																																																																																				0.552	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		8	26	0	0	0	0	8	26				
PTPRF	5792	broad.mit.edu	37	1	44044587	44044587	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:44044587G>A	ENST00000359947.4	+	7	1015	c.675G>A	c.(673-675)gtG>gtA	p.V225V	PTPRF_ENST00000438120.1_Silent_p.V225V|PTPRF_ENST00000372413.3_Silent_p.V225V|PTPRF_ENST00000372414.3_Silent_p.V225V	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	225					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCTGTATGTGCGAGGTAAGG	0.612																																						uc001cjr.2		NA																	0				ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(673-675)GTG>GTA		protein tyrosine phosphatase, receptor type, F							136.0	94.0	108.0					1																	44044587		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44044587G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.675G>A	1.37:g.44044587G>A						PTPRF_uc001cjq.3_Silent_p.V231V|PTPRF_uc001cjs.2_Silent_p.V225V|PTPRF_uc001cjt.3_Silent_p.V225V	p.V225V	NM_002840	NP_002831	P10586	PTPRF_HUMAN			7	1015	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	225			Extracellular (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.675G>A	CCDS489.2																																																																																				0.612	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			3	39	0	0	0	0	3	39				
PLPPR4	9890	broad.mit.edu	37	1	99771805	99771805	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:99771805G>A	ENST00000370185.3	+	7	2028	c.1531G>A	c.(1531-1533)Gga>Aga	p.G511R	LPPR4_ENST00000370184.1_Missense_Mutation_p.G353R|LPPR4_ENST00000457765.1_Missense_Mutation_p.G453R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		511					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CGCTGTCCCCGGATGTAACAA	0.552																																						uc001dse.2		NA																	0				ovary(3)	3						c.(1531-1533)GGA>AGA		plasticity related gene 1							172.0	173.0	173.0					1																	99771805		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99771805G>A																												ENST00000370185.3:c.1531G>A	1.37:g.99771805G>A	ENSP00000359204:p.Gly511Arg					LPPR4_uc010oue.1_Missense_Mutation_p.G453R	p.G511R	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1637	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	511					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1531G>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	6.137	0.393420	0.11638	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.22743	2.52;2.49;1.94	5.61	4.66	0.58398	.	0.511350	0.21027	N	0.081410	T	0.07052	0.0179	N	0.22421	0.69	0.40160	D	0.977058	D;B	0.56287	0.975;0.357	B;B	0.41619	0.361;0.067	T	0.20739	-1.0266	9	.	.	.	-14.209	13.0638	0.59022	0.0818:0.0:0.9182:0.0	.	453;511	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	R	511;453;511;353	ENSP00000359204:G511R;ENSP00000394913:G453R;ENSP00000359203:G353R	.	G	+	1	0	RP4-788L13.1	99544393	0.896000	0.30565	0.230000	0.23976	0.142000	0.21351	2.941000	0.49011	1.281000	0.44480	0.585000	0.79938	GGA		0.552	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			17	384	0	0	0	0	17	384				
AMIGO1	57463	broad.mit.edu	37	1	110051444	110051444	+	Missense_Mutation	SNP	C	C	T	rs139908524		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:110051444C>T	ENST00000369864.4	-	2	440	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	AMIGO1_ENST00000369862.1_Missense_Mutation_p.V31M					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CAGCTAACCACGGCTCGGCCA	0.627																																						uc001dxx.3		NA																	0				ovary(1)|breast(1)	2						c.(91-93)GTG>ATG		AMIGO protein precursor		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	30.0	32.0	31.0		91	-0.5	0.1	1	dbSNP_134	31	0,8600		0,0,4300	no	missense	AMIGO1	NM_020703.2	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	31/494	110051444	1,13005	2203	4300	6503	SO:0001583	missense	57463				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane		g.chr1:110051444C>T		CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.91G>A	1.37:g.110051444C>T	ENSP00000358880:p.Val31Met						p.V31M	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	2	473	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	31			LRRNT.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000369864.4	37	c.91G>A	CCDS30795.1	.	.	.	.	.	.	.	.	.	.	C	8.555	0.876339	0.17395	2.27E-4	0.0	ENSG00000181754	ENST00000369864;ENST00000369862	T;T	0.52057	0.68;0.68	5.07	-0.501	0.12008	.	0.930774	0.08853	U	0.884249	T	0.11495	0.0280	N	0.22421	0.69	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.27673	-1.0067	10	0.45353	T	0.12	-0.794	2.8246	0.05481	0.2867:0.3159:0.3097:0.0877	.	31	Q86WK6	AMGO1_HUMAN	M	31	ENSP00000358880:V31M;ENSP00000358878:V31M	ENSP00000358878:V31M	V	-	1	0	AMIGO1	109852967	0.000000	0.05858	0.072000	0.20136	0.949000	0.60115	0.760000	0.26475	0.038000	0.15604	-0.182000	0.12963	GTG		0.627	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703		11	29	0	0	0	0	11	29				
ARHGEF11	9826	broad.mit.edu	37	1	156950259	156950259	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:156950259G>A	ENST00000361409.2	-	4	985	c.243C>T	c.(241-243)gcC>gcT	p.A81A	ARHGEF11_ENST00000368194.3_Silent_p.A81A	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	81	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A81A(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTTTCACACCGGCCTTCATGG	0.567																																						uc001fqo.2		NA																	1	Substitution - coding silent(1)		prostate(1)	ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(241-243)GCC>GCT		Rho guanine nucleotide exchange factor (GEF) 11							101.0	65.0	77.0					1																	156950259		2203	4300	6503	SO:0001819	synonymous_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156950259G>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.243C>T	1.37:g.156950259G>A						ARHGEF11_uc001fqn.2_Silent_p.A81A	p.A81A	NM_014784	NP_055599	O15085	ARHGB_HUMAN			4	1283	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		81			PDZ.		D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	c.243C>T	CCDS1162.1																																																																																				0.567	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		5	11	0	0	0	0	5	11				
ATP1A2	477	broad.mit.edu	37	1	160104995	160104995	+	Silent	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:160104995C>T	ENST00000361216.3	+	15	2114	c.2025C>T	c.(2023-2025)ctC>ctT	p.L675L	ATP1A2_ENST00000392233.3_Silent_p.L675L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	675					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGGAGCAGCTCGATGAGATCC	0.577																																						uc001fvc.2		NA																	0				central_nervous_system(3)|ovary(2)|skin(2)	7						c.(2023-2025)CTC>CTT		Na+/K+ -ATPase alpha 2 subunit proprotein							143.0	105.0	118.0					1																	160104995		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160104995C>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2025C>T	1.37:g.160104995C>T						ATP1A2_uc001fvb.2_Silent_p.L675L|ATP1A2_uc001fvd.2_Silent_p.L411L	p.L675L	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		15	2157	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		675			Cytoplasmic (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.2025C>T	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	9.397	1.077095	0.20227	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.44	0.216	0.15258	.	.	.	.	.	T	0.58235	0.2108	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61700	-0.7009	4	.	.	.	.	16.1713	0.81820	0.0:0.5284:0.4716:0.0	.	.	.	.	L	386	.	.	S	+	2	0	ATP1A2	158371619	0.998000	0.40836	0.988000	0.46212	0.976000	0.68499	0.378000	0.20569	-0.042000	0.13535	-0.416000	0.06073	TCG		0.577	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		34	59	0	0	0	0	34	59				
PAPPA2	60676	broad.mit.edu	37	1	176525894	176525894	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:176525894G>A	ENST00000367662.3	+	2	1600	c.436G>A	c.(436-438)Gct>Act	p.A146T	PAPPA2_ENST00000367661.3_Missense_Mutation_p.A146T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	146					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGATGATGACGCTTATCTCGG	0.542																																						uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(436-438)GCT>ACT		pappalysin 2 isoform 1							100.0	105.0	103.0					1																	176525894		2143	4249	6392	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525894G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.436G>A	1.37:g.176525894G>A	ENSP00000356634:p.Ala146Thr					PAPPA2_uc001gky.1_Missense_Mutation_p.A146T|PAPPA2_uc009www.2_RNA	p.A146T	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	1600	+			146					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.436G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	1.425	-0.571793	0.03882	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.28454	4.83;1.61	4.63	2.2	0.27929	.	1.292050	0.05683	N	0.590846	T	0.06005	0.0156	N	0.00162	-1.95	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39761	-0.9598	10	0.02654	T	1	-0.5164	3.7284	0.08484	0.7055:0.0:0.1053:0.1892	.	146;146	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	T	146	ENSP00000356634:A146T;ENSP00000356633:A146T	ENSP00000356633:A146T	A	+	1	0	PAPPA2	174792517	1.000000	0.71417	0.957000	0.39632	0.681000	0.39784	2.050000	0.41297	0.149000	0.19098	-0.340000	0.08031	GCT		0.542	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			6	209	0	0	0	0	6	209				
CACNA1E	777	broad.mit.edu	37	1	181745355	181745355	+	Missense_Mutation	SNP	G	G	A	rs371470806		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:181745355G>A	ENST00000367573.2	+	38	5258	c.5258G>A	c.(5257-5259)cGa>cAa	p.R1753Q	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1734Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1685Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1704Q|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1734Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1360Q	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1753	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAATATGACCGAGCAGCATGG	0.612																																						uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(5257-5259)CGA>CAA		calcium channel, voltage-dependent, R type,		G	GLN/ARG,GLN/ARG,GLN/ARG	0,3900		0,0,1950	101.0	102.0	102.0		5258,5258,5201	5.3	1.0	1		102	1,8271		0,1,4135	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	43,43,43	0,1,6085	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging	1753/2271,1753/2314,1734/2252	181745355	1,12171	1950	4136	6086	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181745355G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5258G>A	1.37:g.181745355G>A	ENSP00000356545:p.Arg1753Gln					CACNA1E_uc009wxs.2_Missense_Mutation_p.R1641Q|CACNA1E_uc001gox.1_Missense_Mutation_p.R979Q|CACNA1E_uc009wxt.2_Missense_Mutation_p.R979Q	p.R1753Q	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			38	5423	+			1753			EF-hand.|By similarity.|Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5258G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	34	5.386960	0.95988	0.0	1.21E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96104	-3.84;-3.84;-3.85;-3.84;-3.91;-3.85;-3.85	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	L	0.34521	1.04	0.58432	D	0.999994	D;D;D	0.76494	0.99;0.992;0.999	P;P;P	0.61874	0.877;0.881;0.895	D	0.96583	0.9432	10	0.72032	D	0.01	.	18.5437	0.91039	0.0:0.0:1.0:0.0	.	1734;1753;1753	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	Q	1753;1734;1704;1685;1360;1734;1753	ENSP00000356542:R1753Q;ENSP00000434814:R1734Q;ENSP00000350183:R1704Q;ENSP00000351101:R1685Q;ENSP00000356539:R1360Q;ENSP00000353222:R1734Q;ENSP00000356545:R1753Q	ENSP00000350183:R1704Q	R	+	2	0	CACNA1E	180011978	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	6.509000	0.73725	2.479000	0.83701	0.655000	0.94253	CGA		0.612	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		6	168	0	0	0	0	6	168				
CACNA1S	779	broad.mit.edu	37	1	201046135	201046135	+	Silent	SNP	G	G	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:201046135G>C	ENST00000362061.3	-	12	1966	c.1740C>G	c.(1738-1740)ctC>ctG	p.L580L	CACNA1S_ENST00000367338.3_Silent_p.L580L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	580					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCCCCCAAAGAGCTGCATGC	0.572																																						uc001gvv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1738-1740)CTC>CTG		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						165.0	144.0	151.0					1																	201046135		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046135G>C	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1740C>G	1.37:g.201046135G>C							p.L580L	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			12	1967	-			580			II.|Helical; Name=S5 of repeat II; (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.1740C>G	CCDS1407.1																																																																																				0.572	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		16	145	0	0	0	0	16	145				
CHI3L1	1116	broad.mit.edu	37	1	203150383	203150383	+	Silent	SNP	G	G	A	rs372434583		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:203150383G>A	ENST00000255409.3	-	7	743	c.618C>T	c.(616-618)taC>taT	p.Y206Y		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	206	Chitooligosaccharide binding.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CATGAAAATCGTAGGTCATGA	0.522																																						uc001gzi.2		NA																	0				pancreas(1)	1						c.(616-618)TAC>TAT		chitinase 3-like 1 precursor		G		0,4406		0,0,2203	106.0	103.0	104.0		618	-8.1	0.6	1		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHI3L1	NM_001276.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		206/384	203150383	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1116				chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding	g.chr1:203150383G>A	BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.618C>T	1.37:g.203150383G>A						FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_Silent_p.Y3Y|CHI3L1_uc001gzj.2_Silent_p.Y206Y|CHI3L1_uc001gzl.3_5'Flank	p.Y206Y	NM_001276	NP_001267	P36222	CH3L1_HUMAN			7	789	-			206			Chitooligosaccharide.		B2R7B0|P30923|Q8IVA4|Q96HI7	Silent	SNP	ENST00000255409.3	37	c.618C>T	CCDS1435.1	.	.	.	.	.	.	.	.	.	.	G	1.611	-0.523946	0.04141	0.0	1.16E-4	ENSG00000133048	ENST00000404436	.	.	.	4.97	-8.06	0.01102	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.958	17.1376	0.86744	0.8463:0.0:0.1537:0.0	.	.	.	.	X	36	.	.	R	-	1	2	CHI3L1	201417006	0.009000	0.17119	0.617000	0.29091	0.162000	0.22319	-1.029000	0.03585	-1.642000	0.01521	-0.137000	0.14449	CGA		0.522	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1	NM_001276		25	61	0	0	0	0	25	61				
GREM2	64388	broad.mit.edu	37	1	240656560	240656560	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:240656560C>G	ENST00000318160.4	-	2	482	c.216G>C	c.(214-216)tgG>tgC	p.W72C		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	72					BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)	p.W72C(1)		endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GCGTCTTGCACCAGTCACTCT	0.632																																						uc001hys.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(214-216)TGG>TGC		gremlin 2 precursor							52.0	53.0	52.0					1																	240656560		2203	4300	6503	SO:0001583	missense	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656560C>G	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.216G>C	1.37:g.240656560C>G	ENSP00000318650:p.Trp72Cys						p.W72C	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	496	-		all_cancers(173;0.0196)	72					Q86UD9	Missense_Mutation	SNP	ENST00000318160.4	37	c.216G>C	CCDS31070.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605924	0.87157	.	.	ENSG00000180875	ENST00000318160	T	0.04015	3.73	5.03	5.03	0.67393	DAN (1);	0.000000	0.85682	U	0.000000	T	0.27594	0.0678	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.09751	-1.0660	10	0.72032	D	0.01	-2.5266	18.3609	0.90374	0.0:1.0:0.0:0.0	.	72	Q9H772	GREM2_HUMAN	C	72	ENSP00000318650:W72C	ENSP00000318650:W72C	W	-	3	0	GREM2	238723183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.629000	0.83207	2.327000	0.79052	0.557000	0.71058	TGG		0.632	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469		12	44	0	0	0	0	12	44				
RGS7	6000	broad.mit.edu	37	1	240966240	240966240	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:240966240G>A	ENST00000407727.1	-	15	1322	c.1323C>T	c.(1321-1323)tcC>tcT	p.S441S	RGS7_ENST00000366565.1_Silent_p.S441S|RGS7_ENST00000348120.2_Silent_p.S388S|RGS7_ENST00000366563.1_Silent_p.S441S|RGS7_ENST00000366564.1_Silent_p.S441S|RGS7_ENST00000331110.7_Silent_p.S415S|RGS7_ENST00000446183.2_Silent_p.S357S|RGS7_ENST00000401882.1_Silent_p.S388S|RGS7_ENST00000366562.4_Silent_p.S441S			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	441	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.S441S(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GATAGGCACTGGATCTTATAA	0.348																																						uc001hyv.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(1321-1323)TCC>TCT		regulator of G-protein signaling 7							142.0	151.0	148.0					1																	240966240		2203	4300	6503	SO:0001819	synonymous_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240966240G>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1323C>T	1.37:g.240966240G>A						RGS7_uc010pyh.1_Silent_p.S415S|RGS7_uc010pyj.1_Silent_p.S357S|RGS7_uc001hyu.2_Silent_p.S441S|RGS7_uc009xgn.1_Silent_p.S388S|RGS7_uc001hyw.2_Silent_p.S441S|RGS7_uc001hyt.2_Silent_p.S273S	p.S441S	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		16	1653	-		all_cancers(173;0.0131)	441			RGS.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	ENST00000407727.1	37	c.1323C>T																																																																																					0.348	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		19	189	0	0	0	0	19	189				
SLC39A12	221074	broad.mit.edu	37	10	18270411	18270411	+	Splice_Site	SNP	G	G	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr10:18270411G>C	ENST00000377369.2	+	6	1368	c.1095G>C	c.(1093-1095)gaG>gaC	p.E365D	SLC39A12_ENST00000377371.3_Splice_Site_p.E365D|SLC39A12_ENST00000539911.1_Splice_Site_p.E231D|SLC39A12_ENST00000377374.4_Splice_Site_p.E365D	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	365					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.E365D(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CCACTCTGGAGAGTAAGTTCT	0.443																																						uc001ipo.2		NA																	1	Substitution - Missense(1)		ovary(1)	ovary(1)|breast(1)	2						c.(1093-1095)GAG>GAC		solute carrier family 39 (zinc transporter),							51.0	41.0	44.0					10																	18270411		2203	4299	6502	SO:0001630	splice_region_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18270411G>C		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1096+1G>C	10.37:g.18270411G>C						SLC39A12_uc001ipn.2_Missense_Mutation_p.E365D|SLC39A12_uc001ipp.2_Missense_Mutation_p.E365D|SLC39A12_uc010qck.1_Missense_Mutation_p.E231D	p.E365D	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			6	1368	+			365			Cytoplasmic (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1095G>C	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783954	0.70222	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.66815	-0.09;-0.23;-0.09;-0.16	6.01	2.76	0.32466	.	2.889450	0.00921	N	0.002592	T	0.80330	0.4603	M	0.78637	2.42	0.52501	D	0.999951	D;P;D	0.57899	0.966;0.9;0.981	P;P;P	0.57425	0.82;0.543;0.82	T	0.65051	-0.6262	10	0.54805	T	0.06	-21.3497	9.4051	0.38457	0.3268:0.0:0.6732:0.0	.	365;365;365	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	D	365;365;365;231;285	ENSP00000366586:E365D;ENSP00000366591:E365D;ENSP00000366588:E365D;ENSP00000440445:E231D	ENSP00000366586:E365D	E	+	3	2	SLC39A12	18310417	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	1.283000	0.33237	0.894000	0.36317	-0.140000	0.14226	GAG		0.443	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725	Missense_Mutation	10	39	0	0	0	0	10	39				
TET1	80312	broad.mit.edu	37	10	70405419	70405419	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr10:70405419C>G	ENST00000373644.4	+	4	3142	c.2933C>G	c.(2932-2934)tCc>tGc	p.S978C		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	978					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.S978C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACTACCCTTTCCAACTCACAT	0.363																																						uc001jok.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(2932-2934)TCC>TGC		CXXC finger 6							111.0	104.0	106.0					10																	70405419		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70405419C>G	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2933C>G	10.37:g.70405419C>G	ENSP00000362748:p.Ser978Cys						p.S978C	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			4	3438	+			978					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.2933C>G	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	3.759	-0.049936	0.07407	.	.	ENSG00000138336	ENST00000373644	T	0.08282	3.11	5.79	2.85	0.33270	.	11.105800	0.00166	N	0.000000	T	0.08758	0.0217	L	0.32530	0.975	0.09310	N	1	B	0.21905	0.062	B	0.18871	0.023	T	0.32322	-0.9911	10	0.36615	T	0.2	.	5.7567	0.18176	0.144:0.6432:0.1386:0.0742	.	978	Q8NFU7	TET1_HUMAN	C	978	ENSP00000362748:S978C	ENSP00000362748:S978C	S	+	2	0	TET1	70075425	0.043000	0.20138	0.008000	0.14137	0.281000	0.26958	1.542000	0.36137	0.322000	0.23283	0.557000	0.71058	TCC		0.363	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		17	72	0	0	0	0	17	72				
PLCE1	51196	broad.mit.edu	37	10	95790919	95790919	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr10:95790919C>G	ENST00000371380.3	+	1	351	c.116C>G	c.(115-117)tCa>tGa	p.S39*	PLCE1_ENST00000260766.3_Nonsense_Mutation_p.S39*			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	39					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCAATATTTCAAAAGCACAT	0.423																																						uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.(115-117)TCA>TGA		phospholipase C, epsilon 1 isoform 1							75.0	71.0	72.0					10																	95790919		1876	4102	5978	SO:0001587	stop_gained	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95790919C>G		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.116C>G	10.37:g.95790919C>G	ENSP00000360431:p.Ser39*					PLCE1_uc010qnx.1_Nonsense_Mutation_p.S39*	p.S39*	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			2	750	+		Colorectal(252;0.0458)	39					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Nonsense_Mutation	SNP	ENST00000371380.3	37	c.116C>G	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	39	7.538332	0.98345	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	.	.	.	5.01	2.96	0.34315	.	1.039280	0.07660	N	0.933427	.	.	.	.	.	.	0.21627	N	0.999614	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	5.0969	0.14739	0.0:0.3153:0.0:0.6847	.	.	.	.	X	39	.	ENSP00000260766:S39X	S	+	2	0	PLCE1	95780909	0.003000	0.15002	0.002000	0.10522	0.147000	0.21601	1.263000	0.33004	0.522000	0.28464	0.650000	0.86243	TCA		0.423	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		17	96	0	0	0	0	17	96				
SORCS3	22986	broad.mit.edu	37	10	107012588	107012588	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr10:107012588C>A	ENST00000369701.3	+	23	3388	c.3161C>A	c.(3160-3162)aCt>aAt	p.T1054N		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1054					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTCTCCCCACTTCAGCAGAG	0.517																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(3160-3162)ACT>AAT		VPS10 domain receptor protein SORCS 3 precursor							141.0	142.0	142.0					10																	107012588		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107012588C>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3161C>A	10.37:g.107012588C>A	ENSP00000358715:p.Thr1054Asn					SORCS3_uc010qqz.1_RNA	p.T1054N	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	23	3388	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1054			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.3161C>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	30	5.049864	0.93740	.	.	ENSG00000156395	ENST00000369701	T	0.24350	1.86	5.82	5.82	0.92795	.	0.102765	0.64402	N	0.000003	T	0.56514	0.1990	M	0.83953	2.67	0.80722	D	1	D	0.71674	0.998	D	0.68765	0.96	T	0.57124	-0.7865	9	.	.	.	.	20.0897	0.97814	0.0:1.0:0.0:0.0	.	1054	Q9UPU3	SORC3_HUMAN	N	1054	ENSP00000358715:T1054N	.	T	+	2	0	SORCS3	107002578	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	5.350000	0.66016	2.744000	0.94065	0.655000	0.94253	ACT		0.517	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		30	69	1	0	2.5e-24	3.02e-24	30	69				
MUC5B	727897	broad.mit.edu	37	11	1275954	1275954	+	Missense_Mutation	SNP	G	G	A	rs530544887		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:1275954G>A	ENST00000529681.1	+	35	15566	c.15508G>A	c.(15508-15510)Ggt>Agt	p.G5170S	MUC5B_ENST00000447027.1_Missense_Mutation_p.G5173S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5170	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGTGAGCAGCGGTTTCAGCAA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		15702	0.0		0.0	False		,,,				2504	0.001					uc009ycr.1		NA																	0					0						c.(16519-16521)GGT>AGT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							70.0	72.0	71.0					11																	1275954		2109	4224	6333	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1275954G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15508G>A	11.37:g.1275954G>A	ENSP00000436812:p.Gly5170Ser					MUC5B_uc001ltb.2_Missense_Mutation_p.G5173S	p.G5507S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	57	16645	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5170			VWFD 4.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.16519G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258938	0.23051	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.58210	0.35;0.35	4.33	-1.14	0.09741	.	.	.	.	.	T	0.40398	0.1115	L	0.41961	1.31	0.09310	N	1	P;P	0.52577	0.954;0.954	B;B	0.40741	0.339;0.339	T	0.34054	-0.9844	9	0.87932	D	0	.	7.6635	0.28417	0.5319:0.0:0.4681:0.0	.	5507;5173	A7Y9J9;E9PBJ0	.;.	S	5170;5173;5114;69;4882	ENSP00000436812:G5170S;ENSP00000415793:G5173S	ENSP00000343037:G5114S	G	+	1	0	MUC5B	1232530	0.068000	0.21057	0.013000	0.15412	0.002000	0.02628	0.313000	0.19415	-0.176000	0.10707	0.456000	0.33151	GGT		0.607	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		11	31	0	0	0	0	11	31				
CARS	833	broad.mit.edu	37	11	3061081	3061081	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:3061081G>A	ENST00000397111.5	-	4	532	c.287C>T	c.(286-288)aCg>aTg	p.T96M	CARS_ENST00000401769.3_Missense_Mutation_p.T109M|CARS_ENST00000397114.3_Missense_Mutation_p.T86M|CARS_ENST00000380525.4_Missense_Mutation_p.T179M|CARS_ENST00000278224.9_Missense_Mutation_p.T96M|CARS-AS1_ENST00000499962.1_RNA			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	96					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ATCAATATCCGTAATGTTCAT	0.294			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	uc001lxh.2		NA		Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				soft_tissue(5)|ovary(2)	7						c.(286-288)ACG>ATG		cysteinyl-tRNA synthetase isoform b	L-Cysteine(DB00151)						119.0	110.0	113.0					11																	3061081		2199	4298	6497	SO:0001583	missense	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding	g.chr11:3061081G>A	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.287C>T	11.37:g.3061081G>A	ENSP00000380300:p.Thr96Met					CARS_uc001lxe.2_Missense_Mutation_p.T86M|CARS_uc001lxf.2_Missense_Mutation_p.T179M|CARS_uc001lxg.2_Missense_Mutation_p.T96M|CARS_uc010qxo.1_Missense_Mutation_p.T179M|CARS_uc010qxp.1_Missense_Mutation_p.T109M|uc001lxi.1_Intron	p.T96M	NM_001751	NP_001742	P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	4	361	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	96					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	c.287C>T	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977192	0.74360	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.71817	3.06;3.06;3.06;-0.6;3.06	5.26	5.26	0.73747	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.92041	0.7478	H	0.99746	4.745	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95768	0.8806	10	0.87932	D	0	-27.423	18.8907	0.92399	0.0:0.0:1.0:0.0	.	109;179;96;96;179;86	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	M	179;96;96;86;109	ENSP00000369897:T179M;ENSP00000380300:T96M;ENSP00000278224:T96M;ENSP00000380303:T86M;ENSP00000384069:T109M	ENSP00000278224:T96M	T	-	2	0	CARS	3017657	1.000000	0.71417	0.912000	0.35992	0.572000	0.35998	9.218000	0.95166	2.438000	0.82558	0.650000	0.86243	ACG		0.294	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		4	42	0	0	0	0	4	42				
OR51F2	119694	broad.mit.edu	37	11	4843392	4843392	+	Silent	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:4843392C>A	ENST00000322110.5	+	1	842	c.777C>A	c.(775-777)atC>atA	p.I259I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATCCCACATCAGTGCTGTTT	0.493																																						uc010qyn.1		NA																	0				ovary(1)|pancreas(1)	2						c.(775-777)ATC>ATA		olfactory receptor, family 51, subfamily F,							263.0	179.0	207.0					11																	4843392		2201	4298	6499	SO:0001819	synonymous_variant	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4843392C>A	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.777C>A	11.37:g.4843392C>A							p.I259I	NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	777	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	259			Helical; Name=6; (Potential).		Q6IFI1	Silent	SNP	ENST00000322110.5	37	c.777C>A	CCDS31361.1																																																																																				0.493	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		22	72	1	0	7.45e-12	8.83e-12	22	72				
MRGPRX1	259249	broad.mit.edu	37	11	18955550	18955550	+	Missense_Mutation	SNP	G	G	T	rs150108666	byFrequency	TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:18955550G>T	ENST00000302797.3	-	1	1006	c.782C>A	c.(781-783)tCc>tAc	p.S261Y	MRGPRX1_ENST00000526914.1_5'Flank|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	261					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTTAAGAGCGGACAGGAAAAT	0.463													G|||	2	0.000399361	0.0015	0.0	5008	,	,		28883	0.0		0.0	False		,,,				2504	0.0					uc001mpg.2		NA																	0				pancreas(2)|central_nervous_system(1)	3						c.(781-783)TCC>TAC		MAS-related GPR, member X1		G	TYR/SER	6,4382		0,6,2188	83.0	80.0	81.0		782	2.3	0.0	11	dbSNP_134	81	0,8574		0,0,4287	yes	missense	MRGPRX1	NM_147199.3	144	0,6,6475	TT,TG,GG		0.0,0.1367,0.0463	benign	261/323	18955550	6,12956	2194	4287	6481	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955550G>T		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.782C>A	11.37:g.18955550G>T	ENSP00000305766:p.Ser261Tyr						p.S261Y	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			1	1000	-			261			Helical; Name=7; (Potential).		Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.782C>A	CCDS7846.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	10.11	1.261520	0.23051	0.001367	0.0	ENSG00000170255	ENST00000302797	T	0.38887	1.11	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.327534	0.26642	N	0.023256	T	0.56187	0.1968	M	0.83603	2.65	0.09310	N	1	P	0.42409	0.779	P	0.51974	0.686	T	0.49835	-0.8897	10	0.54805	T	0.06	.	10.6403	0.45590	0.0:0.0:1.0:0.0	.	261	Q96LB2	MRGX1_HUMAN	Y	261	ENSP00000305766:S261Y	ENSP00000305766:S261Y	S	-	2	0	MRGPRX1	18912126	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.037000	0.13840	1.579000	0.49836	0.491000	0.48974	TCC		0.463	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		33	97	1	0	1.62e-16	1.94e-16	33	97				
PAMR1	25891	broad.mit.edu	37	11	35454125	35454125	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:35454125A>G	ENST00000378880.2	-	11	2387	c.1942T>C	c.(1942-1944)Ttc>Ctc	p.F648L	PAMR1_ENST00000532848.1_Missense_Mutation_p.F608L|PAMR1_ENST00000378878.3_Missense_Mutation_p.F537L|PAMR1_ENST00000278360.3_Missense_Mutation_p.F665L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	648	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CTGGCACAGAACATGTTATCA	0.597																																						uc001mwg.2		NA																	0				ovary(2)	2						c.(1942-1944)TTC>CTC		regeneration associated muscle protease isoform							85.0	71.0	76.0					11																	35454125		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35454125A>G		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1942T>C	11.37:g.35454125A>G	ENSP00000368158:p.Phe648Leu					PAMR1_uc001mwf.2_Missense_Mutation_p.F665L|PAMR1_uc010rew.1_Missense_Mutation_p.F537L|PAMR1_uc010rex.1_Missense_Mutation_p.F608L	p.F648L	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN			11	1985	-			648			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.1942T>C	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.921248	0.52653	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16	5.1	5.1	0.69264	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.049399	0.85682	D	0.000000	D	0.86879	0.6039	N	0.11892	0.195	0.58432	D	0.999993	D;B;B	0.58268	0.982;0.449;0.183	D;B;B	0.67548	0.952;0.259;0.085	D	0.89745	0.3936	10	0.87932	D	0	.	15.1904	0.73038	1.0:0.0:0.0:0.0	.	537;648;665	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	L	665;648;537;608;625	ENSP00000278360:F665L;ENSP00000368158:F648L;ENSP00000368156:F537L;ENSP00000433868:F608L;ENSP00000432591:F625L	ENSP00000278360:F665L	F	-	1	0	PAMR1	35410701	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.060000	0.64312	2.055000	0.61198	0.459000	0.35465	TTC		0.597	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		15	42	0	0	0	0	15	42				
LRP4	4038	broad.mit.edu	37	11	46911062	46911062	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:46911062G>T	ENST00000378623.1	-	16	2357	c.2115C>A	c.(2113-2115)aaC>aaA	p.N705K		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	705	EGF-like 3.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGCCTCCGTTGTTGTCCCCAC	0.592											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ndn.3		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(2113-2115)AAC>AAA		low density lipoprotein receptor-related protein							74.0	72.0	72.0					11																	46911062		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46911062G>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2115C>A	11.37:g.46911062G>T	ENSP00000367888:p.Asn705Lys		OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942		p.N705K	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	16	2261	-			705			Extracellular (Potential).|EGF-like 3.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.2115C>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739016	0.49045	.	.	ENSG00000134569	ENST00000378623	D	0.87256	-2.23	5.53	4.62	0.57501	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);Epidermal growth factor-like (1);	0.045670	0.85682	D	0.000000	D	0.84247	0.5430	L	0.55990	1.75	0.53005	D	0.999965	B	0.22414	0.069	B	0.28991	0.097	T	0.80961	-0.1148	10	0.49607	T	0.09	.	10.3865	0.44143	0.1481:0.0:0.8519:0.0	.	705	O75096	LRP4_HUMAN	K	705	ENSP00000367888:N705K	ENSP00000367888:N705K	N	-	3	2	LRP4	46867638	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.254000	0.65457	1.344000	0.45657	0.561000	0.74099	AAC		0.592	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		6	118	1	0	3.1e-07	3.57e-07	6	118				
EFEMP2	30008	broad.mit.edu	37	11	65638052	65638052	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:65638052A>T	ENST00000307998.6	-	5	675	c.445T>A	c.(445-447)Tgc>Agc	p.C149S	EFEMP2_ENST00000528176.1_Missense_Mutation_p.C149S|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	149	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGGCAGGTGCACTGATAGGAG	0.622																																						uc001ofy.3		NA																	0				ovary(1)	1						c.(445-447)TGC>AGC		EGF-containing fibulin-like extracellular matrix							93.0	77.0	82.0					11																	65638052		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65638052A>T	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.445T>A	11.37:g.65638052A>T	ENSP00000309953:p.Cys149Ser					EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.C149S	p.C149S	NM_016938	NP_058634	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	5	639	-			149			EGF-like 2; calcium-binding (Potential).		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.445T>A	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	A	35	5.459513	0.96240	.	.	ENSG00000172638	ENST00000528176;ENST00000307998;ENST00000526624;ENST00000527378	D;D;D;D	0.99429	-5.89;-5.89;-5.89;-5.89	5.3	5.3	0.74995	EGF-like calcium-binding, conserved site (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.267039	0.27331	N	0.019853	D	0.99746	0.9899	H	0.98738	4.315	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.997	D	0.97177	0.9848	10	0.87932	D	0	.	13.2275	0.59922	1.0:0.0:0.0:0.0	.	149;149	E9PRU1;O95967	.;FBLN4_HUMAN	S	149	ENSP00000434151:C149S;ENSP00000309953:C149S;ENSP00000435419:C149S;ENSP00000435963:C149S	ENSP00000309953:C149S	C	-	1	0	EFEMP2	65394628	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.409000	0.90223	2.228000	0.72767	0.459000	0.35465	TGC		0.622	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		13	27	0	0	0	0	13	27				
HYOU1	10525	broad.mit.edu	37	11	118925377	118925377	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:118925377G>A	ENST00000404233.3	-	7	631	c.507C>T	c.(505-507)atC>atT	p.I169I	HYOU1_ENST00000529972.1_Silent_p.I169I|HYOU1_ENST00000543287.1_Silent_p.I82I|HYOU1_ENST00000525859.1_Silent_p.I169I	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	169					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CTGCATCCTTGATGGGCTGCT	0.542																																						uc001puu.2		NA																	0					0						c.(505-507)ATC>ATT		hypoxia up-regulated 1 precursor							59.0	56.0	57.0					11																	118925377		2200	4295	6495	SO:0001819	synonymous_variant	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118925377G>A	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.507C>T	11.37:g.118925377G>A						HYOU1_uc001put.2_Silent_p.I134I|HYOU1_uc010ryu.1_Silent_p.I189I|HYOU1_uc010ryv.1_Silent_p.I58I|HYOU1_uc001pux.3_Silent_p.I169I|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Silent_p.I169I	p.I169I	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	7	700	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	169					A8C1Z0|B7Z909|Q2I204|Q53H25	Silent	SNP	ENST00000404233.3	37	c.507C>T	CCDS8408.1																																																																																				0.542	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		9	26	0	0	0	0	9	26				
LPAR5	57121	broad.mit.edu	37	12	6729533	6729533	+	Silent	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:6729533C>T	ENST00000329858.4	-	2	1638	c.882G>A	c.(880-882)ccG>ccA	p.P294P	LPAR5_ENST00000431922.1_Silent_p.P294P|LPAR5_ENST00000540335.1_5'Flank	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						AGTACACCAGCGGGTCCAGCA	0.726																																					NSCLC(74;891 2312 37538)	uc009zer.2		NA																	0				ovary(1)|skin(1)	2						c.(880-882)CCG>CCA		lysophosphatidic acid receptor 5							13.0	17.0	16.0					12																	6729533		2195	4291	6486	SO:0001819	synonymous_variant	57121					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:6729533C>T	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.882G>A	12.37:g.6729533C>T						LPAR5_uc001qps.2_Silent_p.P294P|LPAR5_uc010sff.1_Silent_p.P294P	p.P294P	NM_001142961	NP_001136433	Q9H1C0	LPAR5_HUMAN			2	1163	-			294			Helical; Name=7; (Potential).			Silent	SNP	ENST00000329858.4	37	c.882G>A	CCDS8553.1																																																																																				0.726	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		12	25	0	0	0	0	12	25				
CLEC1A	51267	broad.mit.edu	37	12	10233841	10233841	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:10233841G>A	ENST00000315330.4	-	3	448	c.386C>T	c.(385-387)gCt>gTt	p.A129V	RN7SKP161_ENST00000411110.1_RNA|CLEC1A_ENST00000457018.2_Missense_Mutation_p.A96V|CLEC1A_ENST00000420265.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	129					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CTTACCTCCAGCTTTGTTATA	0.453																																						uc001qxb.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(385-387)GCT>GTT		C-type lectin-like receptor-1							101.0	104.0	103.0					12																	10233841		2203	4300	6503	SO:0001583	missense	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10233841G>A	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.386C>T	12.37:g.10233841G>A	ENSP00000326407:p.Ala129Val					CLEC1A_uc009zhf.2_Missense_Mutation_p.A41V|CLEC1A_uc001qxc.2_Missense_Mutation_p.A41V|CLEC1A_uc001qxd.2_Missense_Mutation_p.A86V|CLEC1A_uc010sgx.1_Intron	p.A129V	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN			3	470	-			129			Extracellular (Potential).		Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	c.386C>T	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484283	0.44147	.	.	ENSG00000150048	ENST00000315330;ENST00000457018	T;T	0.17370	2.28;2.28	5.06	3.12	0.35913	C-type lectin-like (1);	0.428590	0.19536	N	0.111918	T	0.12135	0.0295	N	0.19112	0.55	0.80722	D	1	B;B	0.14012	0.008;0.009	B;B	0.14578	0.011;0.006	T	0.06499	-1.0823	10	0.62326	D	0.03	.	11.8718	0.52525	0.0:0.4473:0.5527:0.0	.	96;129	E9PFB4;Q8NC01	.;CLC1A_HUMAN	V	129;96	ENSP00000326407:A129V;ENSP00000415048:A96V	ENSP00000326407:A129V	A	-	2	0	CLEC1A	10125108	1.000000	0.71417	0.989000	0.46669	0.840000	0.47671	1.800000	0.38833	0.411000	0.25702	0.563000	0.77884	GCT		0.453	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		13	264	0	0	0	0	13	264				
PRB3	5544	broad.mit.edu	37	12	11421068	11421068	+	Nonsense_Mutation	SNP	G	G	A	rs533793961		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:11421068G>A	ENST00000279573.7	-	3	250	c.115C>T	c.(115-117)Cga>Tga	p.R39*	PRB3_ENST00000538488.1_Nonsense_Mutation_p.R39*|PRB3_ENST00000440870.3_5'UTR|PRB3_ENST00000381842.3_Nonsense_Mutation_p.R39*			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	39	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGTGGGCGTCGTCCTTCTGGC	0.547													-|||	1	0.000199681	0.0008	0.0	5008	,	,		13936	0.0		0.0	False		,,,				2504	0.0					uc001qzs.2		NA																	0				skin(1)	1						c.(115-117)CGA>TGA		proline-rich protein BstNI subfamily 3							96.0	80.0	85.0					12																	11421068		2143	4242	6385	SO:0001587	stop_gained	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11421068G>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.115C>T	12.37:g.11421068G>A	ENSP00000279573:p.Arg39*					PRB4_uc001qzf.1_Intron	p.R39*	NM_006249	NP_006240	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		3	153	-			39			Pro-rich.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Nonsense_Mutation	SNP	ENST00000279573.7	37	c.115C>T		.	.	.	.	.	.	.	.	.	.	.	10.73	1.431272	0.25813	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	.	.	.	0.548	-1.1	0.09872	.	.	.	.	.	.	.	.	.	.	.	0.51767	A	0.999938	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	.	.	.	.	.	.	.	X	39	.	ENSP00000279573:R39X	R	-	1	2	PRB3	11312335	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-0.642000	0.05427	-0.466000	0.06943	0.164000	0.16699	CGA		0.547	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		22	190	0	0	0	0	22	190				
PCBP2	5094	broad.mit.edu	37	12	53849269	53849269	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:53849269C>T	ENST00000439930.3	+	3	140	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	PCBP2_ENST00000552819.1_Missense_Mutation_p.R40C|PCBP2_ENST00000437231.1_Missense_Mutation_p.R40C|PCBP2_ENST00000541275.1_Missense_Mutation_p.R40C|PCBP2_ENST00000359282.5_Missense_Mutation_p.R40C|PCBP2_ENST00000549863.1_Missense_Mutation_p.R40C|PCBP2_ENST00000546463.1_Missense_Mutation_p.R40C|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000455667.3_Missense_Mutation_p.R40C|PCBP2_ENST00000447282.1_Missense_Mutation_p.R40C|PCBP2_ENST00000603815.1_Missense_Mutation_p.R40C|PCBP2_ENST00000548933.1_Missense_Mutation_p.R40C|PCBP2_ENST00000359462.5_Missense_Mutation_p.R40C|PCBP2_ENST00000552296.2_Missense_Mutation_p.R40C			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	40	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TAAGAAGATGCGCGAGGAGGT	0.348																																						uc001sdl.3		NA																	0					0						c.(118-120)CGC>TGC		poly(rC) binding protein 2 isoform d							102.0	101.0	101.0					12																	53849269		2203	4300	6503	SO:0001583	missense	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53849269C>T	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.118C>T	12.37:g.53849269C>T	ENSP00000408949:p.Arg40Cys					PCBP2_uc001sdc.3_Missense_Mutation_p.R40C|PCBP2_uc001sdb.3_Missense_Mutation_p.R40C|PCBP2_uc001sde.3_Missense_Mutation_p.R40C|PCBP2_uc001sdi.3_Missense_Mutation_p.R40C|PCBP2_uc001sdd.3_Missense_Mutation_p.R40C|PCBP2_uc001sdf.3_Missense_Mutation_p.R40C|PCBP2_uc009zna.2_Missense_Mutation_p.R40C|PCBP2_uc010soh.1_Missense_Mutation_p.R40C|PCBP2_uc009zmz.1_Intron	p.R40C	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN			4	468	+			40			KH 1.		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	c.118C>T	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880351	0.51801	.	.	ENSG00000197111	ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000546463;ENST00000550192;ENST00000551104;ENST00000550520;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000546652;ENST00000379777	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.24	5.24	0.73138	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.053913	0.85682	D	0.000000	T	0.44350	0.1289	M	0.63169	1.94	0.80722	D	1	P;D;B;B;P;P;B;B;B	0.54601	0.517;0.967;0.136;0.355;0.704;0.793;0.031;0.136;0.313	B;P;B;P;P;P;B;B;B	0.50270	0.321;0.636;0.271;0.539;0.453;0.453;0.06;0.271;0.265	T	0.37572	-0.9700	10	0.54805	T	0.06	.	11.2134	0.48813	0.0:0.9155:0.0:0.0845	.	40;40;40;40;40;40;40;40;40	B4DLC0;F8VRG9;Q15366;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;PCBP2_HUMAN;.;.;.;.;.;.	C	40;40;40;40;40;40;40;40;40;40;32;40;40;40;40;40;21;2	ENSP00000446130:R40C;ENSP00000352228:R40C;ENSP00000394116:R40C;ENSP00000390304:R40C;ENSP00000408949:R40C;ENSP00000447670:R40C;ENSP00000352438:R40C;ENSP00000448762:R40C;ENSP00000448079:R40C;ENSP00000446601:R40C;ENSP00000448847:R32C;ENSP00000448927:R40C;ENSP00000449070:R40C;ENSP00000388008:R40C;ENSP00000449062:R40C	ENSP00000352228:R40C	R	+	1	0	PCBP2	52135536	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.384000	0.52478	2.729000	0.93468	0.655000	0.94253	CGC		0.348	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		4	138	0	0	0	0	4	138				
NEDD1	121441	broad.mit.edu	37	12	97331091	97331091	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:97331091C>T	ENST00000266742.4	+	9	1376	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V	NEDD1_ENST00000457368.2_Missense_Mutation_p.A257V|NEDD1_ENST00000557644.1_Missense_Mutation_p.A353V|NEDD1_ENST00000429527.2_Missense_Mutation_p.A346V|NEDD1_ENST00000411739.2_Missense_Mutation_p.A257V	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	346					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GAAGCACCTGCCACGTCCATT	0.433																																						uc001teu.3		NA																	0					0						c.(1036-1038)GCC>GTC		neural precursor cell expressed, developmentally							159.0	135.0	143.0					12																	97331091		2203	4300	6503	SO:0001583	missense	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97331091C>T		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.1037C>T	12.37:g.97331091C>T	ENSP00000266742:p.Ala346Val					NEDD1_uc001tev.3_Missense_Mutation_p.A346V|NEDD1_uc010svc.1_Missense_Mutation_p.A257V|NEDD1_uc001tew.2_Missense_Mutation_p.A353V|NEDD1_uc001tex.2_Missense_Mutation_p.A257V	p.A346V	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN			9	1376	+			346					B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	c.1037C>T	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990731	0.35131	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000557644;ENST00000457368	T;T;T;T;T	0.46819	0.87;0.87;1.65;0.86;1.65	5.39	2.3	0.28687	.	1.144660	0.06215	N	0.685761	T	0.31389	0.0795	N	0.14661	0.345	0.09310	N	1	B;B	0.19200	0.034;0.02	B;B	0.21708	0.036;0.01	T	0.24799	-1.0150	10	0.15952	T	0.53	.	9.453	0.38739	0.1474:0.5488:0.3038:0.0	.	353;346	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	V	346;346;257;353;257	ENSP00000266742:A346V;ENSP00000404978:A346V;ENSP00000411307:A257V;ENSP00000451211:A353V;ENSP00000407964:A257V	ENSP00000266742:A346V	A	+	2	0	NEDD1	95855222	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.040000	0.30278	0.564000	0.29238	0.591000	0.81541	GCC		0.433	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			104	109	0	0	0	0	104	109				
SSH1	54434	broad.mit.edu	37	12	109182226	109182226	+	Missense_Mutation	SNP	C	C	A	rs148301801		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:109182226C>A	ENST00000326495.5	-	15	2781	c.2688G>T	c.(2686-2688)aaG>aaT	p.K896N	SSH1_ENST00000360239.3_Missense_Mutation_p.K584N	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	896					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGGGGGGCTCTTCAGTGAGC	0.597																																						uc001tnm.2		NA																	0				ovary(4)	4						c.(2686-2688)AAG>AAT		slingshot 1 isoform 1		C	ASN/LYS	1,4379		0,1,2189	25.0	29.0	27.0		2688	4.2	0.9	12	dbSNP_134	27	0,8560		0,0,4280	no	missense	SSH1	NM_018984.3	94	0,1,6469	AA,AC,CC		0.0,0.0228,0.0077	possibly-damaging	896/1050	109182226	1,12939	2190	4280	6470	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109182226C>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2688G>T	12.37:g.109182226C>A	ENSP00000315713:p.Lys896Asn					SSH1_uc001tnl.2_Missense_Mutation_p.K584N	p.K896N	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN			15	2775	-			896					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.2688G>T	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882865	0.33255	2.28E-4	0.0	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.16457	2.48;2.34	5.11	4.22	0.49857	.	0.777388	0.11896	N	0.519088	T	0.32041	0.0816	M	0.64997	1.995	0.33526	D	0.592954	B;D	0.63046	0.361;0.992	B;P	0.59357	0.157;0.856	T	0.35325	-0.9793	10	0.39692	T	0.17	-17.1806	8.4475	0.32852	0.0:0.7801:0.0:0.2199	.	896;584	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	N	584;896	ENSP00000353374:K584N;ENSP00000315713:K896N	ENSP00000315713:K896N	K	-	3	2	SSH1	107706355	0.948000	0.32251	0.942000	0.38095	0.208000	0.24298	0.406000	0.21032	1.396000	0.46663	0.650000	0.86243	AAG		0.597	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		26	72	1	0	3.67e-16	4.39e-16	26	72				
RIMBP2	23504	broad.mit.edu	37	12	130927171	130927171	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:130927171G>A	ENST00000261655.4	-	8	838	c.675C>T	c.(673-675)ccC>ccT	p.P225P	RIMBP2_ENST00000535703.1_Silent_p.P133P|RIMBP2_ENST00000536002.1_Silent_p.P133P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	225	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGAAGTTGGAGGGCACCAGAC	0.597																																						uc001uil.2		NA																	0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(673-675)CCC>CCT		RIM-binding protein 2							87.0	91.0	89.0					12																	130927171		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130927171G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.675C>T	12.37:g.130927171G>A						RIMBP2_uc001uim.2_Silent_p.P133P|RIMBP2_uc001uin.1_5'UTR	p.P225P	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	839	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	225			SH3 1.		Q96ID2	Silent	SNP	ENST00000261655.4	37	c.675C>T	CCDS31925.1																																																																																				0.597	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		34	46	0	0	0	0	34	46				
INTS6	26512	broad.mit.edu	37	13	51957877	51957877	+	Splice_Site	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr13:51957877G>A	ENST00000311234.4	-	8	1367	c.895C>T	c.(895-897)Cca>Tca	p.P299S	INTS6_ENST00000490542.1_5'UTR|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Splice_Site_p.P121S|INTS6_ENST00000398119.2_Splice_Site_p.P286S|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000420668.2_3'UTR	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	299					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.P299S(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GTACGAGGTGGCTAAAGGGGA	0.353																																						uc001vfk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(895-897)CCA>TCA		integrator complex subunit 6 isoform a							88.0	87.0	87.0					13																	51957877		2203	4300	6503	SO:0001630	splice_region_variant	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:51957877G>A	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.895-1C>T	13.37:g.51957877G>A						INTS6_uc001vfi.2_5'UTR|INTS6_uc001vfj.2_Missense_Mutation_p.P286S|INTS6_uc001vfl.2_Missense_Mutation_p.P121S	p.P299S	NM_012141	NP_036273	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	8	1509	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	299					Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	c.895C>T	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588958	0.86851	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000483746	T;T;T;T	0.56103	0.48;0.48;0.48;1.6	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.74604	0.3738	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78026	-0.2365	10	0.66056	D	0.02	-9.5904	17.925	0.88980	0.0:0.0:1.0:0.0	.	299	Q9UL03	INT6_HUMAN	S	299;286;121;18	ENSP00000310260:P299S;ENSP00000381187:P286S;ENSP00000419871:P121S;ENSP00000418026:P18S	ENSP00000310260:P299S	P	-	1	0	INTS6	50855878	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.813000	0.99286	2.548000	0.85928	0.655000	0.94253	CCA		0.353	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141	Missense_Mutation	10	91	0	0	0	0	10	91				
ATP7B	540	broad.mit.edu	37	13	52548430	52548430	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr13:52548430A>G	ENST00000242839.4	-	2	1082	c.926T>C	c.(925-927)gTg>gCg	p.V309A	ATP7B_ENST00000418097.2_Missense_Mutation_p.V309A|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000542656.1_Missense_Mutation_p.V277A|ATP7B_ENST00000344297.5_Missense_Mutation_p.V309A|ATP7B_ENST00000448424.2_Missense_Mutation_p.V309A|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000400370.3_Missense_Mutation_p.V309A	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	309	HMA 3. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTGCAGAGCCACTGGGCTGGT	0.488									Wilson disease																													uc001vfw.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(925-927)GTG>GCG		ATPase, Cu++ transporting, beta polypeptide							88.0	90.0	90.0					13																	52548430		1896	4101	5997	SO:0001583	missense	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52548430A>G	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.926T>C	13.37:g.52548430A>G	ENSP00000242839:p.Val309Ala					ATP7B_uc010adv.2_Missense_Mutation_p.V309A|ATP7B_uc001vfx.2_Missense_Mutation_p.V309A|ATP7B_uc001vfy.2_Intron|ATP7B_uc010tgt.1_Missense_Mutation_p.V309A|ATP7B_uc010tgu.1_Missense_Mutation_p.V309A|ATP7B_uc010tgv.1_Missense_Mutation_p.V309A|ATP7B_uc010tgw.1_Missense_Mutation_p.V277A	p.V309A	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	2	1083	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	309			HMA 3.|Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.926T>C	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	A	4.514	0.095447	0.08681	.	.	ENSG00000123191	ENST00000242839;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097;ENST00000542656	D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	6.02	-3.96	0.04106	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	1.192360	0.05684	N	0.590970	T	0.55577	0.1929	N	0.01277	-0.915	0.09310	N	1	B;B;B;B;B;B;B	0.24882	0.001;0.001;0.001;0.021;0.057;0.113;0.0	B;B;B;B;B;B;B	0.27262	0.006;0.006;0.008;0.018;0.078;0.054;0.005	T	0.51140	-0.8743	10	0.15066	T	0.55	-0.708	0.4592	0.00513	0.3132:0.1203:0.2254:0.3411	.	277;309;309;309;309;309;309	F6XIH0;E7ET55;B7ZLR4;F5H748;F5H562;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	A	309;309;309;309;309;277	ENSP00000242839:V309A;ENSP00000342559:V309A;ENSP00000416738:V309A;ENSP00000383221:V309A;ENSP00000393343:V309A;ENSP00000443128:V277A	ENSP00000242839:V309A	V	-	2	0	ATP7B	51446431	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.669000	0.05262	-0.627000	0.05589	0.533000	0.62120	GTG		0.488	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		23	109	0	0	0	0	23	109				
OR11H4	390442	broad.mit.edu	37	14	20711912	20711912	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr14:20711912G>A	ENST00000315409.2	+	1	1015	c.962G>A	c.(961-963)cGt>cAt	p.R321H		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	321						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATGAGAATTCGTCAAAATTCG	0.393																																						uc010tld.1		NA																	0				ovary(1)	1						c.(961-963)CGT>CAT		olfactory receptor, family 11, subfamily H,							62.0	65.0	64.0					14																	20711912		2199	4300	6499	SO:0001583	missense	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711912G>A		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.962G>A	14.37:g.20711912G>A	ENSP00000318997:p.Arg321His						p.R321H	NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	962	+	all_cancers(95;0.000888)		321			Cytoplasmic (Potential).		B2RNQ4|Q6IF07	Missense_Mutation	SNP	ENST00000315409.2	37	c.962G>A	CCDS32034.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.539170	0.00942	.	.	ENSG00000176198	ENST00000315409	T	0.40225	1.04	5.03	2.02	0.26589	.	0.561162	0.17193	N	0.183427	T	0.24586	0.0596	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21621	-1.0240	10	0.15952	T	0.53	-0.4335	8.6326	0.33928	0.1553:0.0:0.7184:0.1263	.	321	Q8NGC9	O11H4_HUMAN	H	321	ENSP00000318997:R321H	ENSP00000318997:R321H	R	+	2	0	OR11H4	19781752	0.000000	0.05858	0.295000	0.24960	0.056000	0.15407	-0.059000	0.11731	0.275000	0.22094	-0.797000	0.03246	CGT		0.393	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			39	80	0	0	0	0	39	80				
PLEK2	26499	broad.mit.edu	37	14	67864498	67864498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr14:67864498G>A	ENST00000216446.4	-	2	228	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	PLEK2_ENST00000557388.1_5'UTR	NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	30	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		AGCGTGTTCTGCCGAAGGATG	0.602																																						uc001xjh.1		NA																	0				ovary(1)|pancreas(1)	2						c.(88-90)CAG>TAG		pleckstrin 2							58.0	48.0	51.0					14																	67864498		2203	4300	6503	SO:0001587	stop_gained	26499				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane		g.chr14:67864498G>A	AF228603	CCDS9782.1	14q23.3	2014-08-12			ENSG00000100558	ENSG00000100558		"""Pleckstrin homology (PH) domain containing"""	19238	protein-coding gene	gene with protein product		608007				11911883, 17658464	Standard	NM_016445		Approved		uc001xjh.1	Q9NYT0	OTTHUMG00000171247	ENST00000216446.4:c.88C>T	14.37:g.67864498G>A	ENSP00000216446:p.Gln30*						p.Q30*	NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN		all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	2	140	-			30			PH 1.		Q96JT0	Nonsense_Mutation	SNP	ENST00000216446.4	37	c.88C>T	CCDS9782.1	.	.	.	.	.	.	.	.	.	.	G	34	5.328820	0.95733	.	.	ENSG00000100558	ENST00000216446	.	.	.	5.6	5.6	0.85130	.	0.176715	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-8.121	18.1558	0.89690	0.0:0.0:1.0:0.0	.	.	.	.	X	30	.	ENSP00000216446:Q30X	Q	-	1	0	PLEK2	66934251	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.937000	0.48979	2.793000	0.96121	0.563000	0.77884	CAG		0.602	PLEK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412547.2			9	24	0	0	0	0	9	24				
TYRO3	7301	broad.mit.edu	37	15	41859568	41859568	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr15:41859568C>A	ENST00000263798.3	+	7	1018	c.794C>A	c.(793-795)gCc>gAc	p.A265D	TYRO3_ENST00000559066.1_Missense_Mutation_p.A220D	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	265	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTGACACAGGCCCCAGGAGGC	0.557																																						uc001zof.1		NA																	0		p.A265G(1)		ovary(3)|lung(2)|central_nervous_system(1)	6						c.(793-795)GCC>GAC		TYRO3 protein tyrosine kinase precursor							66.0	71.0	70.0					15																	41859568		2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41859568C>A	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.794C>A	15.37:g.41859568C>A	ENSP00000263798:p.Ala265Asp						p.A265D	NM_006293	NP_006284	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	7	1018	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	265			Fibronectin type-III 1.|Extracellular (Potential).		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.794C>A	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696204	0.68386	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.57107	0.42	4.64	4.64	0.57946	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42294	D	0.000740	T	0.47303	0.1438	L	0.43152	1.355	0.42318	D	0.992246	P	0.37781	0.608	B	0.39805	0.31	T	0.44081	-0.9351	10	0.30854	T	0.27	-9.6909	14.5246	0.67878	0.0:1.0:0.0:0.0	.	265	Q06418	TYRO3_HUMAN	D	197;265	ENSP00000263798:A265D	ENSP00000263798:A265D	A	+	2	0	TYRO3	39646860	0.996000	0.38824	0.999000	0.59377	0.985000	0.73830	3.736000	0.55052	2.417000	0.82017	0.655000	0.94253	GCC		0.557	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			6	121	1	0	0.00116845	0.00129583	6	121				
PEAK1	79834	broad.mit.edu	37	15	77407481	77407481	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr15:77407481C>G	ENST00000560626.2	-	7	4733	c.4258G>C	c.(4258-4260)Gag>Cag	p.E1420Q	PEAK1_ENST00000312493.4_Missense_Mutation_p.E1420Q			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1420	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TCTTCAGTCTCTTCCATGTCA	0.498																																						uc002bcm.2		NA																	0					0						c.(4258-4260)GAG>CAG		NKF3 kinase family member							126.0	118.0	121.0					15																	77407481		1944	4143	6087	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77407481C>G		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4258G>C	15.37:g.77407481C>G	ENSP00000452796:p.Glu1420Gln						p.E1420Q	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	6	4566	-			1420			Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.4258G>C	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	8.728	0.915940	0.17907	.	.	ENSG00000173517	ENST00000312493	T	0.70045	-0.45	5.29	5.29	0.74685	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.646137	0.12297	U	0.481504	T	0.59676	0.2211	L	0.44542	1.39	0.09310	N	1	B	0.23735	0.09	B	0.24974	0.057	T	0.53092	-0.8487	10	0.54805	T	0.06	-0.8583	9.9436	0.41596	0.0:0.9073:0.0:0.0927	.	1420	Q9H792	PEAK1_HUMAN	Q	1420	ENSP00000309230:E1420Q	ENSP00000309230:E1420Q	E	-	1	0	AC087465.1	75194536	0.998000	0.40836	0.091000	0.20842	0.287000	0.27160	4.617000	0.61204	2.492000	0.84095	0.561000	0.74099	GAG		0.498	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			6	160	0	0	0	0	6	160				
TTC23	64927	broad.mit.edu	37	15	99762036	99762036	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr15:99762036C>T	ENST00000394132.2	-	6	1031	c.214G>A	c.(214-216)Gta>Ata	p.V72I	TTC23_ENST00000394136.1_Missense_Mutation_p.V72I|TTC23_ENST00000262074.4_Missense_Mutation_p.V72I|TTC23_ENST00000558663.1_Missense_Mutation_p.V72I|TTC23_ENST00000394129.2_Missense_Mutation_p.V72I|TTC23_ENST00000394135.3_Missense_Mutation_p.V72I|TTC23_ENST00000394130.1_Missense_Mutation_p.V72I|TTC23_ENST00000558613.1_Missense_Mutation_p.V72I			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	72										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GTCAGTGCTACGCAACGCACA	0.448																																						uc002bur.2		NA																	0					0						c.(214-216)GTA>ATA		tetratricopeptide repeat domain 23							125.0	100.0	109.0					15																	99762036		2197	4297	6494	SO:0001583	missense	64927						binding	g.chr15:99762036C>T		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.214G>A	15.37:g.99762036C>T	ENSP00000377690:p.Val72Ile					TTC23_uc002bus.2_Missense_Mutation_p.V72I|TTC23_uc002but.2_Missense_Mutation_p.V72I|TTC23_uc002buu.2_Missense_Mutation_p.V72I|TTC23_uc002buv.2_Missense_Mutation_p.V72I|TTC23_uc002bux.2_Missense_Mutation_p.V72I|TTC23_uc002buw.2_Missense_Mutation_p.V72I|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Missense_Mutation_p.V72I|TTC23_uc010bor.2_Missense_Mutation_p.V72I|TTC23_uc002buz.2_Missense_Mutation_p.V72I	p.V72I	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		5	745	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		72			TPR 1.		A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	ENST00000394132.2	37	c.214G>A	CCDS10379.2	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967216	0.34754	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000394130;ENST00000394129	T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;1.47	5.39	-0.168	0.13343	Tetratricopeptide-like helical (1);	0.281263	0.28284	N	0.015902	T	0.55417	0.1919	L	0.55103	1.725	0.09310	N	1	B;B	0.24483	0.104;0.036	B;B	0.17098	0.017;0.009	T	0.46527	-0.9185	10	0.49607	T	0.09	-4.058	1.5603	0.02593	0.1438:0.4596:0.1399:0.2568	.	72;72	Q5W5X9-2;Q5W5X9	.;TTC23_HUMAN	I	72	ENSP00000377690:V72I;ENSP00000377693:V72I;ENSP00000262074:V72I;ENSP00000377692:V72I;ENSP00000377688:V72I;ENSP00000457901:V72I	ENSP00000262074:V72I	V	-	1	0	TTC23	97579559	0.000000	0.05858	0.001000	0.08648	0.988000	0.76386	-0.992000	0.03724	-0.204000	0.10235	0.655000	0.94253	GTA		0.448	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	NM_022905		14	48	0	0	0	0	14	48				
ZG16B	124220	broad.mit.edu	37	16	2880259	2880259	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr16:2880259A>C	ENST00000382280.3	+	1	90	c.11A>C	c.(10-12)cAg>cCg	p.Q4P	ZG16B_ENST00000572863.1_5'Flank	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	4					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						ATGGGGGCCCAGGGGGCCCAG	0.687																																						uc002cru.2		NA																	0				ovary(1)	1						c.(10-12)CAG>CCG		zymogen granule protein 16 homolog B precursor							20.0	25.0	23.0					16																	2880259		1829	4079	5908	SO:0001583	missense	124220					extracellular region	sugar binding	g.chr16:2880259A>C	BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"""jacalin-like lectin domain containing 2"""		"""zymogen granule protein 16 homolog B (rat)"""			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.11A>C	16.37:g.2880259A>C	ENSP00000371715:p.Gln4Pro						p.Q4P	NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN			1	87	+			4					A6NIY1|B2R4F6|Q6UW28	Missense_Mutation	SNP	ENST00000382280.3	37	c.11A>C	CCDS10479.2	.	.	.	.	.	.	.	.	.	.	a	13.03	2.115713	0.37339	.	.	ENSG00000162078	ENST00000382280	T	0.36878	1.23	3.11	-0.412	0.12367	.	.	.	.	.	T	0.25269	0.0614	N	0.22421	0.69	0.47308	D	0.999389	P	0.52316	0.952	P	0.46850	0.529	T	0.08680	-1.0710	9	0.87932	D	0	.	5.7873	0.18340	0.6095:0.0:0.3905:0.0	.	4	Q96DA0	ZG16B_HUMAN	P	4	ENSP00000371715:Q4P	ENSP00000371715:Q4P	Q	+	2	0	ZG16B	2820260	0.000000	0.05858	0.068000	0.19968	0.057000	0.15508	-0.531000	0.06171	-0.118000	0.11851	-0.386000	0.06593	CAG		0.687	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	NM_145252		3	23	0	0	0	0	3	23				
ACSM2B	348158	broad.mit.edu	37	16	20565101	20565101	+	Silent	SNP	A	A	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr16:20565101A>C	ENST00000329697.6	-	5	906	c.738T>G	c.(736-738)gcT>gcG	p.A246A	ACSM2B_ENST00000565232.1_Silent_p.A246A|ACSM2B_ENST00000565322.1_Silent_p.A167A|ACSM2B_ENST00000567001.1_Silent_p.A246A|ACSM2B_ENST00000567288.1_5'UTR	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	246					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CAGCTTACCCAGCATCCATCT	0.512																																						uc002dhj.3		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(736-738)GCT>GCG		acyl-CoA synthetase medium-chain family member							87.0	82.0	84.0					16																	20565101		2201	4300	6501	SO:0001819	synonymous_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20565101A>C	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.738T>G	16.37:g.20565101A>C						ACSM2B_uc002dhk.3_Silent_p.A246A|ACSM2B_uc010bwf.1_Silent_p.A246A	p.A246A	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			6	948	-			246					Q86YT1	Silent	SNP	ENST00000329697.6	37	c.738T>G	CCDS10586.1																																																																																				0.512	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		27	104	0	0	0	0	27	104				
EARS2	124454	broad.mit.edu	37	16	23541092	23541092	+	Silent	SNP	G	G	A	rs369291371		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr16:23541092G>A	ENST00000563459.1	-	6	1200	c.1194C>T	c.(1192-1194)taC>taT	p.Y398Y	EARS2_ENST00000564501.1_Silent_p.Y398Y|EARS2_ENST00000563232.1_Silent_p.Y398Y|EARS2_ENST00000449606.1_Silent_p.Y398Y|EARS2_ENST00000564987.1_5'UTR			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	398					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		TCCTCTCCACGTAGACTGGGT	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18829	0.0		0.0	False		,,,				2504	0.0					uc002dlt.3		NA																	0					0						c.(1192-1194)TAC>TAT		glutamyl-tRNA synthetase 2 precursor	L-Glutamic Acid(DB00142)	G		1,4115		0,1,2057	107.0	114.0	111.0		1194	-10.3	0.0	16		111	0,8398		0,0,4199	no	coding-synonymous	EARS2	NM_001083614.1		0,1,6256	AA,AG,GG		0.0,0.0243,0.0080		398/524	23541092	1,12513	2058	4199	6257	SO:0001819	synonymous_variant	124454				glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	g.chr16:23541092G>A	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.1194C>T	16.37:g.23541092G>A						EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Silent_p.Y398Y	p.Y398Y	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN		GBM - Glioblastoma multiforme(48;0.0353)	6	1226	-			398					B3KTT2|D3DWF1|Q86YH3|Q8TF31	Silent	SNP	ENST00000563459.1	37	c.1194C>T	CCDS42132.1																																																																																				0.592	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		27	181	0	0	0	0	27	181				
CYLD	1540	broad.mit.edu	37	16	50811826	50811826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr16:50811826C>A	ENST00000427738.3	+	7	1317	c.1112C>A	c.(1111-1113)tCa>tAa	p.S371*	CYLD_ENST00000540145.1_Nonsense_Mutation_p.S371*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.S368*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.S368*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000569418.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.S371*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	371	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.S371*(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CAATCCAAATCAAAAAATACA	0.313			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc002egp.1		NA	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		1	Substitution - Nonsense(1)	p.S371*(1)	skin(1)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28	GRCh37	CM001113	CYLD	M		c.(1111-1113)TCA>TAA		ubiquitin carboxyl-terminal hydrolase CYLD							86.0	80.0	82.0					16																	50811826		1815	4063	5878	SO:0001587	stop_gained	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50811826C>A	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1112C>A	16.37:g.50811826C>A	ENSP00000392025:p.Ser371*					CYLD_uc002egn.1_Nonsense_Mutation_p.S368*|CYLD_uc002ego.2_Nonsense_Mutation_p.S368*|CYLD_uc010cbs.1_Nonsense_Mutation_p.S368*|CYLD_uc002egq.1_Nonsense_Mutation_p.S368*|CYLD_uc002egr.1_Nonsense_Mutation_p.S368*|CYLD_uc002egs.1_Nonsense_Mutation_p.S368*	p.S371*	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			8	1527	+		all_cancers(37;0.0156)	371			Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Nonsense_Mutation	SNP	ENST00000427738.3	37	c.1112C>A	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	C	38	6.825978	0.97865	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.57	4.62	0.57501	.	0.283087	0.35870	N	0.002940	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4529	14.7297	0.69372	0.0:0.9298:0.0:0.0702	.	.	.	.	X	371;371;368;368	.	ENSP00000308928:S371X	S	+	2	0	CYLD	49369327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.580000	0.67464	1.473000	0.48159	0.650000	0.86243	TCA		0.313	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			7	126	1	0	8.13e-05	9.12e-05	7	126				
GPR56	9289	broad.mit.edu	37	16	57689388	57689388	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr16:57689388G>A	ENST00000388812.4	+	6	1286	c.846G>A	c.(844-846)ggG>ggA	p.G282G	GPR56_ENST00000562631.1_Silent_p.G282G|GPR56_ENST00000568908.1_Silent_p.G282G|GPR56_ENST00000538815.1_Silent_p.G282G|GPR56_ENST00000567835.1_Silent_p.G282G|GPR56_ENST00000562558.1_Silent_p.G282G|GPR56_ENST00000544297.1_Silent_p.G107G|GPR56_ENST00000568909.1_Silent_p.G282G|GPR56_ENST00000379696.3_Silent_p.G282G|GPR56_ENST00000540164.2_Silent_p.G282G|GPR56_ENST00000379694.4_Silent_p.G112G|GPR56_ENST00000456916.1_Silent_p.G282G|GPR56_ENST00000388813.5_Silent_p.G282G			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	282					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GCCGGAGCGGGGAGGCTGAGA	0.587																																						uc002emb.2		NA																	0					0						c.(844-846)GGG>GGA		G protein-coupled receptor 56 isoform a							53.0	56.0	55.0					16																	57689388		2198	4300	6498	SO:0001819	synonymous_variant	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57689388G>A	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.846G>A	16.37:g.57689388G>A						GPR56_uc002elz.1_Silent_p.G112G|GPR56_uc002ema.1_Silent_p.G107G|GPR56_uc002emc.2_Silent_p.G282G|GPR56_uc002emf.2_Silent_p.G282G|GPR56_uc010vhs.1_Silent_p.G282G|GPR56_uc002emd.2_Silent_p.G282G|GPR56_uc002eme.2_Silent_p.G282G|GPR56_uc010vht.1_Silent_p.G287G|GPR56_uc002emg.3_Silent_p.G282G|GPR56_uc010vhu.1_Silent_p.G107G	p.G282G	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN			7	1138	+			282			Extracellular (Potential).		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	ENST00000388812.4	37	c.846G>A	CCDS32460.1																																																																																				0.587	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			7	40	0	0	0	0	7	40				
CDH11	1009	broad.mit.edu	37	16	65032522	65032522	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr16:65032522G>T	ENST00000268603.4	-	4	1081	c.466C>A	c.(466-468)Cct>Act	p.P156T	CDH11_ENST00000566827.1_Missense_Mutation_p.P30T|CDH11_ENST00000394156.3_Missense_Mutation_p.P156T	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	156	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AACTCCGGAGGGTTGTCATTA	0.587			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(466-468)CCT>ACT		cadherin 11, type 2 preproprotein							143.0	121.0	129.0					16																	65032522		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65032522G>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.466C>A	16.37:g.65032522G>T	ENSP00000268603:p.Pro156Thr	TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.P156T|CDH11_uc010vin.1_Missense_Mutation_p.P30T|CDH11_uc010vio.1_Missense_Mutation_p.P156T	p.P156T	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	4	900	-		Ovarian(137;0.0973)	156			Extracellular (Potential).|Cadherin 1.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.466C>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079623	0.76528	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.61158	0.18;0.13	5.24	5.24	0.73138	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.099859	0.64402	D	0.000001	T	0.61565	0.2357	L	0.28344	0.845	0.58432	D	0.999998	D;P	0.65815	0.995;0.834	P;P	0.57057	0.812;0.539	T	0.64457	-0.6403	10	0.66056	D	0.02	.	18.3537	0.90348	0.0:0.0:1.0:0.0	.	156;156	P55287-2;P55287	.;CAD11_HUMAN	T	156;156;139	ENSP00000268603:P156T;ENSP00000377711:P156T	ENSP00000268603:P156T	P	-	1	0	CDH11	63590023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.251000	0.58778	2.884000	0.98904	0.655000	0.94253	CCT		0.587	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		9	95	1	0	7.48e-07	8.56e-07	9	95				
TANGO6	79613	broad.mit.edu	37	16	68912102	68912102	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr16:68912102T>C	ENST00000261778.1	+	6	1225	c.1213T>C	c.(1213-1215)Tca>Cca	p.S405P		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	405						integral component of membrane (GO:0016021)											TATAACTTTGTCAAGAGAACG	0.403																																						uc002ewi.3		NA																	0					0						c.(1213-1215)TCA>CCA		transmembrane and coiled-coil domains 7							90.0	84.0	86.0					16																	68912102		1982	4168	6150	SO:0001583	missense	79613					integral to membrane	binding	g.chr16:68912102T>C		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.1213T>C	16.37:g.68912102T>C	ENSP00000261778:p.Ser405Pro						p.S405P	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	6	1225	+		Ovarian(137;0.0568)	405					Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.1213T>C	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.129972	0.37630	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.48	0.286	0.15710	.	.	.	.	.	T	0.26376	0.0644	L	0.51422	1.61	0.23577	N	0.997377	P	0.38335	0.627	B	0.32022	0.139	T	0.10800	-1.0614	8	0.35671	T	0.21	-0.0398	7.7104	0.28673	0.1471:0.0:0.526:0.3269	.	405	Q9C0B7	TMCO7_HUMAN	P	405	.	ENSP00000261778:S405P	S	+	1	0	TMCO7	67469603	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	2.514000	0.45503	0.347000	0.23924	0.528000	0.53228	TCA		0.403	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		3	45	0	0	0	0	3	45				
PIK3R5	23533	broad.mit.edu	37	17	8812440	8812440	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr17:8812440G>A	ENST00000447110.1	-	3	279	c.155C>T	c.(154-156)cCg>cTg	p.P52L	PIK3R5_ENST00000581552.1_Missense_Mutation_p.P52L|PIK3R5_ENST00000584803.1_Missense_Mutation_p.P52L	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	52	Heterodimerization. {ECO:0000250}.				blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GAAGTGGCCCGGGTCCCTGCT	0.592																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.2		NA																	0				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(154-156)CCG>CTG		phosphoinositide-3-kinase, regulatory subunit 5							35.0	30.0	31.0					17																	8812440		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8812440G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.155C>T	17.37:g.8812440G>A	ENSP00000392812:p.Pro52Leu					PIK3R5_uc010vuz.1_Missense_Mutation_p.P52L|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Missense_Mutation_p.P52L|PIK3R5_uc010cob.1_5'UTR	p.P52L	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			3	222	-			52			Heterodimerization (By similarity).		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.155C>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797861	0.50208	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T;T	0.79141	-1.24;-1.24	5.22	5.22	0.72569	.	0.180871	0.49305	D	0.000156	T	0.82162	0.4977	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.84330	0.0521	10	0.87932	D	0	-36.0984	16.9184	0.86157	0.0:0.0:1.0:0.0	.	52	Q8WYR1	PI3R5_HUMAN	L	52	ENSP00000269300:P52L;ENSP00000392812:P52L	ENSP00000269300:P52L	P	-	2	0	PIK3R5	8753165	1.000000	0.71417	0.919000	0.36401	0.903000	0.53119	7.591000	0.82666	2.597000	0.87782	0.650000	0.86243	CCG		0.592	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		3	30	0	0	0	0	3	30				
KRT38	8687	broad.mit.edu	37	17	39593678	39593678	+	Missense_Mutation	SNP	C	C	T	rs148086126	byFrequency	TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr17:39593678C>T	ENST00000246646.3	-	7	1356	c.1357G>A	c.(1357-1359)Gga>Aga	p.G453R		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	453	Tail.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.G453R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AATCGGCTTCCGGTGGTGCTG	0.592													C|||	9	0.00179712	0.0	0.0	5008	,	,		17678	0.0		0.007	False		,,,				2504	0.002					uc002hwq.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	skin(2)	2						c.(1357-1359)GGA>AGA		keratin 38		C	ARG/GLY	0,4406		0,0,2203	20.0	20.0	20.0		1357	1.2	0.0	17	dbSNP_134	20	3,8595		0,3,4296	yes	missense	KRT38	NM_006771.3	125	0,3,6499	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	453/457	39593678	3,13001	2203	4299	6502	SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39593678C>T	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.1357G>A	17.37:g.39593678C>T	ENSP00000246646:p.Gly453Arg						p.G453R	NM_006771	NP_006762	O76015	KRT38_HUMAN			7	1780	-		Breast(137;0.000496)	453			Tail.		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	c.1357G>A	CCDS11392.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	.	10.38	1.333283	0.24167	0.0	3.49E-4	ENSG00000171360	ENST00000246646	D	0.81659	-1.52	2.25	1.25	0.21368	.	0.722437	0.11102	N	0.599518	T	0.61949	0.2388	N	0.08118	0	0.09310	N	1	D	0.57899	0.981	P	0.53146	0.719	T	0.56932	-0.7897	10	0.54805	T	0.06	.	4.8148	0.13362	0.0:0.8159:0.0:0.1841	.	453	O76015	KRT38_HUMAN	R	453	ENSP00000246646:G453R	ENSP00000246646:G453R	G	-	1	0	KRT38	36847204	0.000000	0.05858	0.008000	0.14137	0.072000	0.16883	0.008000	0.13197	0.521000	0.28445	0.555000	0.69702	GGA		0.592	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		8	9	0	0	0	0	8	9				
BRIP1	83990	broad.mit.edu	37	17	59876570	59876570	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr17:59876570T>C	ENST00000259008.2	-	9	1498	c.1231A>G	c.(1231-1233)Aca>Gca	p.T411A	BRIP1_ENST00000577598.1_Missense_Mutation_p.T411A	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	411	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TGAACTTCTGTTACACTGTAA	0.398			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.1		NA	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			0				ovary(1)	1						c.(1231-1233)ACA>GCA	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							138.0	127.0	131.0					17																	59876570		2203	4300	6503	SO:0001583	missense	83990	Fanconi_Anemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59876570T>C	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.1231A>G	17.37:g.59876570T>C	ENSP00000259008:p.Thr411Ala						p.T411A	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			9	1372	-			411			Helicase ATP-binding.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.1231A>G	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971135	0.74246	.	.	ENSG00000136492	ENST00000259008	T	0.71222	-0.55	5.61	5.61	0.85477	DEAD-like helicase (1);DEAD2 (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.202640	0.45606	D	0.000348	T	0.81074	0.4747	M	0.86651	2.83	0.44337	D	0.99722	D	0.57571	0.98	P	0.51516	0.672	D	0.84345	0.0529	9	.	.	.	-16.6938	14.9845	0.71336	0.0:0.0:0.0:1.0	.	411	Q9BX63	FANCJ_HUMAN	A	411	ENSP00000259008:T411A	.	T	-	1	0	BRIP1	57231352	1.000000	0.71417	0.947000	0.38551	0.847000	0.48162	4.111000	0.57838	2.142000	0.66516	0.377000	0.23210	ACA		0.398	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		37	135	0	0	0	0	37	135				
SLC25A19	60386	broad.mit.edu	37	17	73282528	73282528	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr17:73282528G>A	ENST00000402418.3	-	2	1054	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	SLC25A19_ENST00000416858.2_Missense_Mutation_p.R49C|SLC25A19_ENST00000580994.1_Missense_Mutation_p.R49C|SLC25A19_ENST00000375261.4_Missense_Mutation_p.R49C|SLC25A19_ENST00000320362.3_Missense_Mutation_p.R49C|SLC25A19_ENST00000442286.2_Missense_Mutation_p.R49C			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	49					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			CGAGACAGGCGCTCATGCTGA	0.532																																						uc002jns.3		NA																	0				ovary(1)	1						c.(145-147)CGC>TGC		solute carrier family 25, member 19							65.0	66.0	66.0					17																	73282528		2203	4300	6503	SO:0001583	missense	60386					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity	g.chr17:73282528G>A		CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"""Solute carriers"""	14409	protein-coding gene	gene with protein product		606521	"""solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19"", ""microcephaly, Amish"""	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.145C>T	17.37:g.73282528G>A	ENSP00000385312:p.Arg49Cys					SLC25A19_uc010dge.2_Missense_Mutation_p.R49C|SLC25A19_uc002jnv.3_Missense_Mutation_p.R49C|SLC25A19_uc002jnu.3_Missense_Mutation_p.R49C|SLC25A19_uc002jnw.3_Missense_Mutation_p.R49C|SLC25A19_uc002jnt.3_Missense_Mutation_p.R49C	p.R49C	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)		2	1055	-	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		49			Solcar 1.		E9PF74|Q6V9R7	Missense_Mutation	SNP	ENST00000402418.3	37	c.145C>T	CCDS11720.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845164	0.32606	.	.	ENSG00000125454	ENST00000416858;ENST00000442286;ENST00000320362;ENST00000402418;ENST00000375261	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.95	3.79	0.43588	Mitochondrial carrier domain (2);	0.328812	0.36002	N	0.002852	D	0.83667	0.5304	M	0.62088	1.915	0.33023	D	0.529132	D;D	0.76494	0.999;0.999	P;P	0.61658	0.862;0.892	D	0.87103	0.2180	10	0.66056	D	0.02	-29.1595	14.0185	0.64539	0.0:0.0:0.675:0.325	.	49;49	E9PF74;Q9HC21	.;TPC_HUMAN	C	49	ENSP00000397818:R49C;ENSP00000402202:R49C;ENSP00000319574:R49C;ENSP00000385312:R49C;ENSP00000364410:R49C	ENSP00000319574:R49C	R	-	1	0	SLC25A19	70794123	0.987000	0.35691	1.000000	0.80357	0.787000	0.44495	2.686000	0.46968	2.824000	0.97209	0.655000	0.94253	CGC		0.532	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447282.1	NM_021734		4	118	0	0	0	0	4	118				
LAMA1	284217	broad.mit.edu	37	18	7080343	7080343	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr18:7080343G>A	ENST00000389658.3	-	2	268	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	RP11-76K13.3_ENST00000581502.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	59	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CGGACGGGCCGACCTGGCACA	0.547																																						uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(175-177)CGG>TGG		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						82.0	82.0	82.0					18																	7080343		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7080343G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.175C>T	18.37:g.7080343G>A	ENSP00000374309:p.Arg59Trp					LAMA1_uc010wzj.1_5'UTR	p.R59W	NM_005559	NP_005550	P25391	LAMA1_HUMAN			2	269	-		Colorectal(10;0.172)	59			Laminin N-terminal.			Missense_Mutation	SNP	ENST00000389658.3	37	c.175C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.158986	0.38119	.	.	ENSG00000101680	ENST00000389658	T	0.19532	2.14	5.68	2.85	0.33270	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.48822	0.1521	M	0.83953	2.67	0.19300	N	0.999978	D	0.89917	1.0	D	0.91635	0.999	T	0.49862	-0.8894	10	0.72032	D	0.01	.	14.5544	0.68091	0.0:0.0:0.4938:0.5062	.	59	P25391	LAMA1_HUMAN	W	59	ENSP00000374309:R59W	ENSP00000374309:R59W	R	-	1	2	LAMA1	7070343	0.993000	0.37304	0.006000	0.13384	0.034000	0.12701	3.380000	0.52448	0.304000	0.22809	-0.175000	0.13238	CGG		0.547	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		72	110	0	0	0	0	72	110				
MC2R	4158	broad.mit.edu	37	18	13885277	13885277	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr18:13885277T>A	ENST00000327606.3	-	2	421	c.241A>T	c.(241-243)Aat>Tat	p.N81Y		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	81					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ATCAGGATATTTTCCAAGATC	0.448																																					Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1		NA																	0				ovary(4)|skin(1)	5						c.(241-243)AAT>TAT		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						105.0	98.0	100.0					18																	13885277		2203	4300	6503	SO:0001583	missense	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885277T>A		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.241A>T	18.37:g.13885277T>A	ENSP00000333821:p.Asn81Tyr						p.N81Y	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	418	-			81			Extracellular (By similarity).		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.241A>T	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.893954	0.72639	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T;T	0.36699	2.11;1.24	4.13	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	L	0.58669	1.825	0.49389	D	0.999787	D	0.63046	0.992	D	0.63488	0.915	T	0.57642	-0.7776	10	0.87932	D	0	.	13.4468	0.61146	0.0:0.0:0.0:1.0	.	81	Q01718	ACTHR_HUMAN	Y	81	ENSP00000333821:N81Y;ENSP00000382718:N81Y	ENSP00000333821:N81Y	N	-	1	0	MC2R	13875277	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.626000	0.67777	1.643000	0.50594	0.528000	0.53228	AAT		0.448	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			108	43	0	0	0	0	108	43				
ZNF407	55628	broad.mit.edu	37	18	72343784	72343784	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr18:72343784G>A	ENST00000299687.5	+	1	809	c.809G>A	c.(808-810)cGt>cAt	p.R270H	ZNF407_ENST00000309902.6_Missense_Mutation_p.R270H|ZNF407_ENST00000582337.1_Missense_Mutation_p.R270H|ZNF407_ENST00000577538.1_Missense_Mutation_p.R270H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R270H(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACACATCTCCGTCGTCAGAAT	0.403																																						uc002llw.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(808-810)CGT>CAT		zinc finger protein 407 isoform 1							110.0	109.0	109.0					18																	72343784		1900	4125	6025	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343784G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.809G>A	18.37:g.72343784G>A	ENSP00000299687:p.Arg270His					ZNF407_uc010xfc.1_Missense_Mutation_p.R270H|ZNF407_uc010dqu.1_Missense_Mutation_p.R270H|ZNF407_uc002llu.2_Missense_Mutation_p.R269H	p.R270H	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	866	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	270					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.809G>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296771	0.81025	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.12879	2.64;3.14	5.3	5.3	0.74995	Zinc finger, U1-type (1);	0.192884	0.20693	U	0.087439	T	0.33847	0.0877	L	0.55017	1.72	0.33001	D	0.526309	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.91635	0.963;0.999;0.877	T	0.43956	-0.9359	10	0.87932	D	0	.	14.2053	0.65730	0.0:0.0:0.8506:0.1493	.	270;270;270	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	H	270	ENSP00000299687:R270H;ENSP00000310359:R270H	ENSP00000299687:R270H	R	+	2	0	ZNF407	70472772	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.890000	0.63178	0.227000	0.20999	-0.331000	0.08364	CGT		0.403	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		11	195	0	0	0	0	11	195				
ZNF208	7757	broad.mit.edu	37	19	22156525	22156525	+	Silent	SNP	G	G	A	rs551894730	byFrequency	TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr19:22156525G>A	ENST00000397126.4	-	4	1459	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGGTTTGAGGACCAGTTGA	0.378																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(1309-1311)TCC>TCT		zinc finger protein 208																																				SO:0001819	synonymous_variant	7757							g.chr19:22156525G>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1311C>T	19.37:g.22156525G>A						ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.S437S	NM_007153	NP_009084					4	1460	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.1311C>T	CCDS54240.1																																																																																				0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		11	169	0	0	0	0	11	169				
BLVRB	645	broad.mit.edu	37	19	40971542	40971542	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr19:40971542G>A	ENST00000263368.4	-	1	205	c.54C>T	c.(52-54)acC>acT	p.T18T	SPTBN4_ENST00000598249.1_5'Flank|BLVRB_ENST00000595483.1_Silent_p.T18T|SPTBN4_ENST00000352632.3_5'Flank|SPTBN4_ENST00000344104.3_5'Flank|SPTBN4_ENST00000338932.3_5'Flank|SPTBN4_ENST00000595535.1_5'Flank	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	18					heme catabolic process (GO:0042167)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	biliverdin reductase activity (GO:0004074)|riboflavin reductase (NADPH) activity (GO:0042602)			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Riboflavin(DB00140)	GCGCCAGGGTGGTGAGCCCGG	0.687																																						uc002onw.2		NA																	0					0						c.(52-54)ACC>ACT		biliverdin reductase B (flavin reductase	NADH(DB00157)|Riboflavin(DB00140)						30.0	24.0	26.0					19																	40971542		2202	4300	6502	SO:0001819	synonymous_variant	645				heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity	g.chr19:40971542G>A	D26308	CCDS33029.1	19q13.1-q13.2	2011-09-14				ENSG00000090013	1.3.1.24, 1.5.1.30	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	1063	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 43U, member 1"""	600941	"""Flavin reductase"""	FLR		7656592, 19027726	Standard	NM_000713		Approved	SDR43U1	uc002onw.2	P30043		ENST00000263368.4:c.54C>T	19.37:g.40971542G>A						SPTBN4_uc002onx.2_5'Flank|SPTBN4_uc002ony.2_5'Flank|SPTBN4_uc002onz.2_5'Flank|BLVRB_uc010egw.1_RNA	p.T18T	NM_000713	NP_000704	P30043	BLVRB_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		1	184	-			18					A6NKD8|B2R5C6|P32078|P53005|Q32LZ2	Silent	SNP	ENST00000263368.4	37	c.54C>T	CCDS33029.1																																																																																				0.687	BLVRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462563.1			11	26	0	0	0	0	11	26				
ZNF610	162963	broad.mit.edu	37	19	52857030	52857030	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr19:52857030G>A	ENST00000403906.3	+	4	615	c.159G>A	c.(157-159)atG>atA	p.M53I	ZNF610_ENST00000327920.8_Missense_Mutation_p.M53I|ZNF610_ENST00000601151.1_Missense_Mutation_p.M53I|ZNF610_ENST00000321287.8_Missense_Mutation_p.M53I	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	53	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GGGACGTGATGTTGGAGAACT	0.512																																						uc002pyx.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(157-159)ATG>ATA		zinc finger protein 610 isoform a							106.0	102.0	103.0					19																	52857030		2203	4300	6503	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52857030G>A	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.159G>A	19.37:g.52857030G>A	ENSP00000383922:p.Met53Ile					ZNF610_uc002pyy.3_Missense_Mutation_p.M53I|ZNF610_uc002pyz.3_Missense_Mutation_p.M53I|ZNF610_uc002pza.2_Missense_Mutation_p.M53I	p.M53I	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	4	565	+			53			KRAB.		A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.159G>A	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	G	7.502	0.652949	0.14580	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T;T	0.03035	4.07;4.07;4.07	1.47	1.47	0.22746	Krueppel-associated box (4);	.	.	.	.	T	0.17280	0.0415	M	0.92784	3.345	0.23449	N	0.997653	P;P	0.47677	0.877;0.899	P;P	0.55923	0.682;0.787	T	0.02320	-1.1177	9	0.66056	D	0.02	.	8.8849	0.35398	0.0:0.0:1.0:0.0	.	53;53	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	I	53	ENSP00000383922:M53I;ENSP00000324441:M53I;ENSP00000327597:M53I	ENSP00000324441:M53I	M	+	3	0	ZNF610	57548842	0.995000	0.38212	0.897000	0.35233	0.208000	0.24298	3.635000	0.54309	1.120000	0.41904	0.563000	0.77884	ATG		0.512	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		26	203	0	0	0	0	26	203				
ZNF71	58491	broad.mit.edu	37	19	57132929	57132929	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr19:57132929C>T	ENST00000328070.6	+	3	508	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	92					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(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGTCCCACCACGGCTGGACGA	0.582																																						uc002qnm.3		NA																	0				skin(1)	1						c.(274-276)CGG>TGG		zinc finger protein 71							53.0	51.0	52.0					19																	57132929		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57132929C>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.274C>T	19.37:g.57132929C>T	ENSP00000328245:p.Arg92Trp						p.R92W	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	512	+			92					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.274C>T	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	C	7.298	0.612444	0.14066	.	.	ENSG00000197951	ENST00000328070	T	0.08008	3.14	3.01	-3.09	0.05331	.	.	.	.	.	T	0.04048	0.0113	N	0.16833	0.445	0.09310	N	1	D	0.56287	0.975	B	0.36766	0.232	T	0.36792	-0.9733	9	0.72032	D	0.01	.	7.8643	0.29528	0.2172:0.6213:0.1615:0.0	.	92	Q9NQZ8	ZNF71_HUMAN	W	92	ENSP00000328245:R92W	ENSP00000328245:R92W	R	+	1	2	ZNF71	61824741	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-0.827000	0.04278	-0.397000	0.06425	CGG		0.582	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		5	82	0	0	0	0	5	82				
ZNF835	90485	broad.mit.edu	37	19	57175917	57175917	+	Missense_Mutation	SNP	G	G	A	rs375964493		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr19:57175917G>A	ENST00000537055.2	-	2	881	c.650C>T	c.(649-651)aCg>aTg	p.T217M		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T239M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCGCTCGCCCGTGTGCACGCG	0.711																																						uc010ygo.1		NA																	1	Substitution - Missense(1)		endometrium(1)	pancreas(3)|skin(1)	4						c.(715-717)ACG>ATG		zinc finger protein 835		G	MET/THR	1,4391		0,1,2195	18.0	18.0	18.0		650	2.1	0.3	19		18	0,8572		0,0,4286	no	missense	ZNF835	NM_001005850.2	81	0,1,6481	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	217/538	57175917	1,12963	2196	4286	6482	SO:0001583	missense	90485							g.chr19:57175917G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.650C>T	19.37:g.57175917G>A	ENSP00000444747:p.Thr217Met					ZNF835_uc010ygn.1_Missense_Mutation_p.T217M	p.T239M	NM_001005850	NP_001005850					2	716	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.716C>T	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202780	0.79127	2.28E-4	0.0	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.26373	1.74	2.12	2.12	0.27331	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51109	0.1655	M	0.82433	2.59	0.25576	N	0.986847	D	0.89917	1.0	D	0.85130	0.997	T	0.29336	-1.0015	9	0.87932	D	0	.	10.2869	0.43573	0.0:0.0:1.0:0.0	.	239	Q9Y2P0	ZN835_HUMAN	M	239;217	ENSP00000444747:T217M	ENSP00000341756:T239M	T	-	2	0	ZNF835	61867729	0.960000	0.32886	0.284000	0.24805	0.566000	0.35808	1.734000	0.38166	1.506000	0.48736	0.561000	0.74099	ACG		0.711	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		7	18	0	0	0	0	7	18				
LRP1B	53353	broad.mit.edu	37	2	141806556	141806556	+	Splice_Site	SNP	A	A	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr2:141806556A>G	ENST00000389484.3	-	11	2759	c.1788T>C	c.(1786-1788)gaT>gaC	p.D596D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	596					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCACTTACCATCTTTCAGGA	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(1786-1788)GAT>GAC		low density lipoprotein-related protein 1B							152.0	138.0	143.0					2																	141806556		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141806556A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1789+1T>C	2.37:g.141806556A>G		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.D596D	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	11	2760	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	596			Extracellular (Potential).|LDL-receptor class B 5.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.1788T>C	CCDS2182.1																																																																																				0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Silent	45	148	0	0	0	0	45	148				
MBD5	55777	broad.mit.edu	37	2	149226535	149226535	+	Silent	SNP	A	A	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr2:149226535A>G	ENST00000407073.1	+	9	2020	c.1023A>G	c.(1021-1023)ccA>ccG	p.P341P	MBD5_ENST00000404807.1_Silent_p.P341P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	341	Pro-rich.				glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCCCTCCTCCACCTTCTTGTG	0.428																																						uc002twm.3		NA																	0				skin(3)|ovary(2)	5						c.(1021-1023)CCA>CCG		methyl-CpG binding domain protein 5							68.0	61.0	63.0					2																	149226535		2203	4299	6502	SO:0001819	synonymous_variant	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149226535A>G	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.1023A>G	2.37:g.149226535A>G						MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Silent_p.P341P|MBD5_uc002twn.1_5'Flank	p.P341P	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	2011	+			341			Pro-rich.		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	c.1023A>G	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	A	3.170	-0.170143	0.06461	.	.	ENSG00000204406	ENST00000416015	.	.	.	5.45	3.09	0.35607	.	.	.	.	.	T	0.56292	0.1975	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51450	-0.8704	4	.	.	.	-5.2291	7.8249	0.29309	0.7762:0.0:0.2238:0.0	.	.	.	.	R	81	.	.	H	+	2	0	MBD5	148943005	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.981000	0.29526	1.021000	0.39600	0.533000	0.62120	CAC		0.428	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			13	58	0	0	0	0	13	58				
ITGB6	3694	broad.mit.edu	37	2	161029176	161029176	+	Silent	SNP	A	A	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr2:161029176A>G	ENST00000283249.2	-	6	1062	c.825T>C	c.(823-825)caT>caC	p.H275H	ITGB6_ENST00000409872.1_Silent_p.H275H|ITGB6_ENST00000409967.2_Silent_p.H275H|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Silent_p.H233H	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	275	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CCATTCCAAAATGAGAATCAG	0.448																																						uc002ubh.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(823-825)CAT>CAC		integrin, beta 6 precursor							167.0	156.0	160.0					2																	161029176		2203	4300	6503	SO:0001819	synonymous_variant	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161029176A>G		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.825T>C	2.37:g.161029176A>G						ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Silent_p.H275H|ITGB6_uc010zcq.1_Silent_p.H233H|ITGB6_uc010fov.1_Silent_p.H275H	p.H275H	NM_000888	NP_000879	P18564	ITB6_HUMAN			6	841	-			275			Extracellular (Potential).|VWFA.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	ENST00000283249.2	37	c.825T>C	CCDS2212.1																																																																																				0.448	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		10	213	0	0	0	0	10	213				
COL6A3	1293	broad.mit.edu	37	2	238269816	238269816	+	Splice_Site	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr2:238269816C>A	ENST00000295550.4	-	16	6610	c.6158G>T	c.(6157-6159)gGt>gTt	p.G2053V	COL6A3_ENST00000409809.1_Splice_Site_p.G1847V|COL6A3_ENST00000353578.4_Splice_Site_p.G1847V|COL6A3_ENST00000346358.4_Splice_Site_p.G1853V|COL6A3_ENST00000472056.1_Splice_Site_p.G1446V|COL6A3_ENST00000347401.3_Splice_Site_p.G1852V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2053	Collagen-like 1.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCCAGGAATACCCTGAAACAA	0.478																																						uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(6157-6159)GGT>GTT		alpha 3 type VI collagen isoform 1 precursor							87.0	86.0	86.0					2																	238269816		2203	4300	6503	SO:0001630	splice_region_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238269816C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6157-1G>T	2.37:g.238269816C>A						COL6A3_uc002vwo.2_Missense_Mutation_p.G1847V|COL6A3_uc010znj.1_Missense_Mutation_p.G1446V	p.G2053V	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	16	6443	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2053			Triple-helical region.|Collagen-like 1.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.6158G>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437930	0.25900	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-5.77;-5.77	5.22	5.22	0.72569	.	0.000000	0.52532	D	0.000061	D	0.99677	0.9879	H	0.97758	4.07	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	0.97370	0.9975	10	0.87932	D	0	.	18.8129	0.92065	0.0:1.0:0.0:0.0	.	1446;1847;2053	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	V	2053;1852;1847;1446;1847;1853	ENSP00000295550:G2053V;ENSP00000315609:G1852V;ENSP00000315873:G1847V;ENSP00000418285:G1446V;ENSP00000386844:G1847V;ENSP00000295546:G1853V	ENSP00000295550:G2053V	G	-	2	0	COL6A3	237934555	1.000000	0.71417	0.900000	0.35374	0.157000	0.22087	7.083000	0.76859	2.437000	0.82529	0.655000	0.94253	GGT		0.478	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	Missense_Mutation	4	72	1	0	2.56e-06	2.92e-06	4	72				
ITCH	83737	broad.mit.edu	37	20	33033193	33033193	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr20:33033193A>G	ENST00000262650.6	+	12	1326	c.1190A>G	c.(1189-1191)tAt>tGt	p.Y397C	ITCH_ENST00000374864.4_Missense_Mutation_p.Y356C|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Missense_Mutation_p.Y246C			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	397	Required for interaction with FYN.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GTCCGGAACTATGAACAATGG	0.458																																						uc010geu.1		NA																	0				breast(4)|lung(1)|central_nervous_system(1)	6						c.(1189-1191)TAT>TGT		itchy homolog E3 ubiquitin protein ligase							127.0	110.0	115.0					20																	33033193		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33033193A>G	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1190A>G	20.37:g.33033193A>G	ENSP00000262650:p.Tyr397Cys					ITCH_uc002xak.2_Missense_Mutation_p.Y356C|ITCH_uc010zuj.1_Missense_Mutation_p.Y246C	p.Y397C	NM_031483	NP_113671	Q96J02	ITCH_HUMAN			12	1382	+			397			Required for interaction with FYN.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.1190A>G	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.788556	0.70337	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.32753	1.45;1.44;1.86	4.9	4.9	0.64082	.	0.131674	0.52532	D	0.000064	T	0.50429	0.1615	L	0.61218	1.895	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	P;P;D	0.64687	0.839;0.894;0.928	T	0.53933	-0.8368	10	0.72032	D	0.01	.	14.3551	0.66733	1.0:0.0:0.0:0.0	.	308;397;356	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	C	356;246;397	ENSP00000363998:Y356C;ENSP00000445608:Y246C;ENSP00000262650:Y397C	ENSP00000262650:Y397C	Y	+	2	0	ITCH	32496854	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.813000	0.62620	2.049000	0.60858	0.519000	0.50382	TAT		0.458	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			85	137	0	0	0	0	85	137				
COL6A2	1292	broad.mit.edu	37	21	47545457	47545457	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr21:47545457C>A	ENST00000300527.4	+	25	1999	c.1895C>A	c.(1894-1896)aCa>aAa	p.T632K	COL6A2_ENST00000397763.1_Missense_Mutation_p.T632K|COL6A2_ENST00000409416.1_Missense_Mutation_p.T632K|COL6A2_ENST00000357838.4_Missense_Mutation_p.T632K|COL6A2_ENST00000310645.5_Missense_Mutation_p.T632K	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	632	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACCAACTTCACACTGGAGAAG	0.617																																						uc002zia.1		NA																	0				central_nervous_system(7)|ovary(1)	8						c.(1894-1896)ACA>AAA		alpha 2 type VI collagen isoform 2C2 precursor							85.0	66.0	73.0					21																	47545457		2203	4300	6503	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47545457C>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1895C>A	21.37:g.47545457C>A	ENSP00000300527:p.Thr632Lys					COL6A2_uc002zhy.1_Missense_Mutation_p.T632K|COL6A2_uc002zhz.1_Missense_Mutation_p.T632K|COL6A2_uc002zib.1_Missense_Mutation_p.T38K|COL6A2_uc002zic.1_5'Flank	p.T632K	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	25	1977	+	Breast(49;0.245)		632			VWFA 2.|Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.1895C>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803174	0.70682	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	4.07	4.07	0.47477	von Willebrand factor, type A (3);	0.233425	0.43747	D	0.000529	T	0.79787	0.4506	N	0.17872	0.535	0.80722	D	1	D;P;P	0.53462	0.96;0.944;0.944	P;P;P	0.54100	0.742;0.466;0.466	T	0.77216	-0.2669	10	0.20519	T	0.43	-19.5245	16.2537	0.82501	0.0:1.0:0.0:0.0	.	632;632;632	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	K	632;632;632;632;632;189	ENSP00000300527:T632K;ENSP00000350497:T632K;ENSP00000312529:T632K;ENSP00000387115:T632K;ENSP00000380870:T632K;ENSP00000395751:T189K	ENSP00000300527:T632K	T	+	2	0	COL6A2	46369885	1.000000	0.71417	0.987000	0.45799	0.924000	0.55760	7.408000	0.80041	1.820000	0.53075	0.297000	0.19635	ACA		0.617	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			3	42	1	0	0.004672	0.00512357	3	42				
EP300	2033	broad.mit.edu	37	22	41553402	41553402	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr22:41553402G>A	ENST00000263253.7	+	18	4710	c.3491G>A	c.(3490-3492)tGt>tAt	p.C1164Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1164					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGATACTGTTGTGGCAGAAAG	0.393			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(3490-3492)TGT>TAT		E1A binding protein p300							96.0	95.0	95.0					22																	41553402		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41553402G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3491G>A	22.37:g.41553402G>A	ENSP00000263253:p.Cys1164Tyr						p.C1164Y	NM_001429	NP_001420	Q09472	EP300_HUMAN			18	3886	+			1164					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.3491G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929183	0.73327	.	.	ENSG00000100393	ENST00000263253	D	0.87103	-2.21	5.7	5.7	0.88788	Bromodomain (1);Domain of unknown function DUF902, CREBbp (1);	0.000000	0.53938	D	0.000057	D	0.94493	0.8227	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94712	0.7893	10	0.87932	D	0	-4.385	19.8463	0.96708	0.0:0.0:1.0:0.0	.	1164	Q09472	EP300_HUMAN	Y	1164	ENSP00000263253:C1164Y	ENSP00000263253:C1164Y	C	+	2	0	EP300	39883348	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.688000	0.91661	0.655000	0.94253	TGT		0.393	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		113	70	0	0	0	0	113	70				
KLF15	28999	broad.mit.edu	37	3	126070938	126070938	+	Silent	SNP	G	G	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr3:126070938G>C	ENST00000296233.3	-	2	1058	c.828C>G	c.(826-828)tcC>tcG	p.S276S	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	276					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GCACAAACTTGGAGGGCAGGT	0.627																																						uc011bkk.1		NA																	0				lung(1)	1						c.(826-828)TCC>TCG		Kruppel-like factor 15							33.0	24.0	27.0					3																	126070938		2177	4282	6459	SO:0001819	synonymous_variant	28999					nucleus	DNA binding|zinc ion binding	g.chr3:126070938G>C	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.828C>G	3.37:g.126070938G>C							p.S276S	NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	2	1010	-			276						Silent	SNP	ENST00000296233.3	37	c.828C>G	CCDS3036.1																																																																																				0.627	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		2	9	0	0	0	0	2	9				
DNAJC13	23317	broad.mit.edu	37	3	132186135	132186135	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr3:132186135G>T	ENST00000260818.6	+	20	2434	c.2186G>T	c.(2185-2187)aGg>aTg	p.R729M	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	729					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGGAGGGATAGGATGGGCATT	0.398																																						uc003eor.2		NA																	0				ovary(1)|breast(1)	2						c.(2185-2187)AGG>ATG		DnaJ (Hsp40) homolog, subfamily C, member 13							89.0	92.0	91.0					3																	132186135		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132186135G>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2186G>T	3.37:g.132186135G>T	ENSP00000260818:p.Arg729Met					DNAJC13_uc010htq.1_Missense_Mutation_p.R729M	p.R729M	NM_015268	NP_056083	O75165	DJC13_HUMAN			20	2251	+			729					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.2186G>T	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971964	0.74246	.	.	ENSG00000138246	ENST00000260818	T	0.29917	1.55	5.8	5.8	0.92144	Armadillo-type fold (1);	0.052234	0.85682	D	0.000000	T	0.38692	0.1050	L	0.55481	1.735	0.43879	D	0.996493	D;P	0.54397	0.966;0.651	P;B	0.48400	0.576;0.172	T	0.14200	-1.0481	10	0.72032	D	0.01	.	14.5747	0.68238	0.0698:0.0:0.9302:0.0	.	729;729	A7E2Y5;O75165	.;DJC13_HUMAN	M	729	ENSP00000260818:R729M	ENSP00000260818:R729M	R	+	2	0	DNAJC13	133668825	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.031000	0.64134	2.902000	0.99343	0.650000	0.86243	AGG		0.398	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		12	154	1	0	6.4e-05	7.24e-05	12	154				
FXR1	8087	broad.mit.edu	37	3	180688116	180688116	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr3:180688116G>A	ENST00000357559.4	+	15	1957	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N	FXR1_ENST00000468861.1_Missense_Mutation_p.D440N|FXR1_ENST00000305586.7_Missense_Mutation_p.D440N|FXR1_ENST00000480918.1_Missense_Mutation_p.D512N|FXR1_ENST00000445140.2_Missense_Mutation_p.D525N|FXR1_ENST00000491062.1_Missense_Mutation_p.D476N	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	525					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GACTGAATCTGATACAGCTTC	0.353																																						uc003fkq.2		NA																	0				breast(1)	1						c.(1573-1575)GAT>AAT		fragile X mental retardation-related protein 1							114.0	101.0	105.0					3																	180688116		2203	4300	6503	SO:0001583	missense	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180688116G>A	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1573G>A	3.37:g.180688116G>A	ENSP00000350170:p.Asp525Asn					FXR1_uc003fkp.2_Missense_Mutation_p.D440N|FXR1_uc003fkr.2_Missense_Mutation_p.D525N|FXR1_uc011bqj.1_Missense_Mutation_p.D439N|FXR1_uc003fks.2_Missense_Mutation_p.D468N|FXR1_uc011bqk.1_Missense_Mutation_p.D476N|FXR1_uc011bql.1_Missense_Mutation_p.D512N	p.D525N	NM_005087	NP_005078	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		15	1595	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		525					A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	c.1573G>A	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	G	35	5.573570	0.96553	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	T;T;T;T;T;T	0.56103	1.28;1.04;0.58;0.5;0.48;1.08	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.71290	0.3322	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.998;1.0;0.993	D;P;D;D;D;D	0.91635	0.997;0.907;0.998;0.995;0.999;0.977	T	0.67971	-0.5532	10	0.45353	T	0.12	-18.4748	20.3011	0.98612	0.0:0.0:1.0:0.0	.	512;476;440;469;525;525	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	N	525;440;476;440;525;512	ENSP00000350170:D525N;ENSP00000307633:D440N;ENSP00000420643:D476N;ENSP00000420515:D440N;ENSP00000388828:D525N;ENSP00000418097:D512N	ENSP00000307633:D440N	D	+	1	0	FXR1	182170810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.804000	0.96469	0.650000	0.86243	GAT		0.353	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			12	206	0	0	0	0	12	206				
LYAR	55646	broad.mit.edu	37	4	4281210	4281210	+	Missense_Mutation	SNP	G	G	C	rs574658554		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr4:4281210G>C	ENST00000343470.4	-	6	633	c.393C>G	c.(391-393)gaC>gaG	p.D131E	LYAR_ENST00000452476.1_Missense_Mutation_p.D131E	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	131						nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCACACCTGGTCCAGAATGG	0.338																																						uc011bvy.1		NA																	0					0						c.(391-393)GAC>GAG		Ly1 antibody reactive homolog							67.0	66.0	66.0					4																	4281210		2203	4300	6503	SO:0001583	missense	55646					nucleolus	metal ion binding|protein binding	g.chr4:4281210G>C	AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"""Zinc fingers, C2HC-type containing"""	26021	protein-coding gene	gene with protein product			"""Ly1 antibody reactive homolog (mouse)"""			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.393C>G	4.37:g.4281210G>C	ENSP00000345917:p.Asp131Glu					LYAR_uc011bvx.1_Missense_Mutation_p.D14E|LYAR_uc003ght.2_Missense_Mutation_p.D131E	p.D131E	NM_001145725	NP_001139197	Q9NX58	LYAR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	6	536	-			131					D3DVS4|Q6FI78|Q9NYS1	Missense_Mutation	SNP	ENST00000343470.4	37	c.393C>G	CCDS3374.1	.	.	.	.	.	.	.	.	.	.	G	2.591	-0.295267	0.05532	.	.	ENSG00000145220	ENST00000343470;ENST00000452476	T;T	0.27720	1.65;1.65	5.9	2.79	0.32731	.	0.303168	0.41605	N	0.000857	T	0.08980	0.0222	N	0.01168	-0.975	0.30685	N	0.751966	B	0.02656	0.0	B	0.01281	0.0	T	0.30909	-0.9962	10	0.05620	T	0.96	-41.808	10.9646	0.47406	0.0:0.4406:0.481:0.0783	.	131	Q9NX58	LYAR_HUMAN	E	131	ENSP00000345917:D131E;ENSP00000397367:D131E	ENSP00000345917:D131E	D	-	3	2	LYAR	4332111	0.966000	0.33281	1.000000	0.80357	0.989000	0.77384	-0.049000	0.11924	0.831000	0.34780	-0.147000	0.13772	GAC		0.338	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		39	63	0	0	0	0	39	63				
CCKAR	886	broad.mit.edu	37	4	26491091	26491091	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr4:26491091A>G	ENST00000295589.3	-	2	322	c.128T>C	c.(127-129)gTg>gCg	p.V43A		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	43					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GAGAATCTGCACCGCTGGCTG	0.552																																						uc003gse.1		NA																	0				lung(3)|pancreas(1)	4						c.(127-129)GTG>GCG		cholecystokinin A receptor	Ceruletide(DB00403)						62.0	66.0	65.0					4																	26491091		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26491091A>G	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.128T>C	4.37:g.26491091A>G	ENSP00000295589:p.Val43Ala						p.V43A	NM_000730	NP_000721	P32238	CCKAR_HUMAN			2	281	-		Breast(46;0.0503)	43			Helical; Name=1; (Potential).		B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.128T>C	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.659096	0.67586	.	.	ENSG00000163394	ENST00000295589	T	0.37915	1.17	5.24	5.24	0.73138	Cholecystokinin A receptor, N-terminal (1);	0.070140	0.56097	D	0.000031	T	0.42607	0.1210	M	0.65975	2.015	0.52501	D	0.999956	P	0.38020	0.615	B	0.40659	0.336	T	0.37056	-0.9722	10	0.41790	T	0.15	.	15.1666	0.72833	1.0:0.0:0.0:0.0	.	43	P32238	CCKAR_HUMAN	A	43	ENSP00000295589:V43A	ENSP00000295589:V43A	V	-	2	0	CCKAR	26100189	1.000000	0.71417	0.981000	0.43875	0.926000	0.56050	9.300000	0.96151	1.980000	0.57719	0.459000	0.35465	GTG		0.552	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			6	58	0	0	0	0	6	58				
UBA6	55236	broad.mit.edu	37	4	68490887	68490887	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr4:68490887A>G	ENST00000322244.5	-	29	2596	c.2537T>C	c.(2536-2538)gTg>gCg	p.V846A		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	846					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAATGAAAGCACTGCCATCTG	0.368																																						uc003hdg.3		NA																	0					0						c.(2536-2538)GTG>GCG		ubiquitin-activating enzyme E1-like 2							134.0	125.0	128.0					4																	68490887		2203	4300	6503	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68490887A>G	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.2537T>C	4.37:g.68490887A>G	ENSP00000313454:p.Val846Ala						p.V846A	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			29	2589	-			846					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.2537T>C	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019500	0.35606	.	.	ENSG00000033178	ENST00000322244	T	0.40476	1.03	5.52	5.52	0.82312	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.250244	0.40818	N	0.001019	T	0.31544	0.0800	L	0.44542	1.39	0.80722	D	1	B	0.17465	0.022	B	0.12837	0.008	T	0.27054	-1.0085	10	0.45353	T	0.12	-25.5069	4.7164	0.12898	0.7411:0.0:0.091:0.168	.	846	A0AVT1	UBA6_HUMAN	A	846	ENSP00000313454:V846A	ENSP00000313454:V846A	V	-	2	0	UBA6	68173482	0.845000	0.29573	1.000000	0.80357	0.955000	0.61496	1.985000	0.40668	2.075000	0.62263	0.533000	0.62120	GTG		0.368	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		4	150	0	0	0	0	4	150				
DNAH5	1767	broad.mit.edu	37	5	13701532	13701532	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:13701532G>C	ENST00000265104.4	-	77	13456	c.13352C>G	c.(13351-13353)tCt>tGt	p.S4451C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4451				S -> F (in Ref. 5; BAB15543). {ECO:0000305}.	cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGTGTACTAGAAATCCAAGA	0.373									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(13351-13353)TCT>TGT		dynein, axonemal, heavy chain 5							64.0	71.0	69.0					5																	13701532		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13701532G>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13352C>G	5.37:g.13701532G>C	ENSP00000265104:p.Ser4451Cys					DNAH5_uc003jfc.2_Missense_Mutation_p.S619C	p.S4451C	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			77	13394	-	Lung NSC(4;0.00476)		4451	S -> F (in Ref. 5; BAB15543).				Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13352C>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787485	0.90367	.	.	ENSG00000039139	ENST00000265104	T	0.10668	2.85	5.78	5.78	0.91487	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	L	0.55103	1.725	0.80722	D	1	P	0.49862	0.929	P	0.60173	0.87	T	0.00110	-1.2048	10	0.87932	D	0	.	19.9987	0.97401	0.0:0.0:1.0:0.0	.	4451	Q8TE73	DYH5_HUMAN	C	4451	ENSP00000265104:S4451C	ENSP00000265104:S4451C	S	-	2	0	DNAH5	13754532	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	9.869000	0.99810	2.738000	0.93877	0.591000	0.81541	TCT		0.373	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		5	143	0	0	0	0	5	143				
PARP8	79668	broad.mit.edu	37	5	50091099	50091099	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:50091099C>T	ENST00000281631.5	+	12	1434	c.1276C>T	c.(1276-1278)Cac>Tac	p.H426Y	PARP8_ENST00000514342.2_Missense_Mutation_p.H179Y|PARP8_ENST00000514067.2_Missense_Mutation_p.H426Y|PARP8_ENST00000505554.1_Missense_Mutation_p.H405Y|PARP8_ENST00000505697.2_Missense_Mutation_p.H426Y|PARP8_ENST00000503750.2_Missense_Mutation_p.H426Y|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	426						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ACTGAAAAATCACAAATTGCT	0.448																																						uc003jon.3		NA																	0				lung(3)|large_intestine(1)|ovary(1)	5						c.(1276-1278)CAC>TAC		poly (ADP-ribose) polymerase family, member 8							82.0	83.0	83.0					5																	50091099		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50091099C>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1276C>T	5.37:g.50091099C>T	ENSP00000281631:p.His426Tyr					PARP8_uc011cpz.1_Missense_Mutation_p.H318Y|PARP8_uc003joo.2_Missense_Mutation_p.H426Y|PARP8_uc003jop.2_Missense_Mutation_p.H426Y	p.H426Y	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			13	1458	+		Lung NSC(810;0.0305)|Breast(144;0.222)	426					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.1276C>T	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131734	0.77662	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.66317	0.2777	L	0.29908	0.895	0.53005	D	0.999969	P;P;D	0.63880	0.936;0.908;0.993	P;P;D	0.70227	0.885;0.888;0.968	T	0.63111	-0.6710	8	.	.	.	-12.444	19.329	0.94278	0.0:1.0:0.0:0.0	.	318;426;426	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	Y	426;426;179;426;426;405;179;179	.	.	H	+	1	0	PARP8	50126856	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.427000	0.73378	2.605000	0.88082	0.655000	0.94253	CAC		0.448	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		24	177	0	0	0	0	24	177				
FAM169A	26049	broad.mit.edu	37	5	74091962	74091962	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:74091962C>T	ENST00000389156.4	-	11	1243	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	FAM169A_ENST00000510496.1_Missense_Mutation_p.E325K|FAM169A_ENST00000380515.3_3'UTR	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	385	Asp/Glu-rich.					membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TCAGGTTCTTCTTCCAGGAAT	0.423																																						uc003kdm.2		NA																	0					0						c.(1153-1155)GAA>AAA		hypothetical protein LOC26049							167.0	152.0	156.0					5																	74091962		1920	4135	6055	SO:0001583	missense	26049							g.chr5:74091962C>T		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.1153G>A	5.37:g.74091962C>T	ENSP00000373808:p.Glu385Lys					FAM169A_uc010izm.2_Missense_Mutation_p.E325K|FAM169A_uc003kdl.2_Missense_Mutation_p.E203K	p.E385K	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN			11	1196	-			385			Asp/Glu-rich.		A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	37	c.1153G>A	CCDS43330.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989055	0.93106	.	.	ENSG00000198780	ENST00000389156;ENST00000510496	T	0.50277	0.75	5.91	5.91	0.95273	.	0.092344	0.46758	D	0.000266	T	0.54806	0.1881	L	0.29908	0.895	0.80722	D	1	P;D	0.61697	0.952;0.99	P;P	0.61940	0.652;0.896	T	0.52011	-0.8632	10	0.46703	T	0.11	-21.697	15.7984	0.78433	0.0:1.0:0.0:0.0	.	325;385	D6RB01;Q9Y6X4	.;F169A_HUMAN	K	385;325	ENSP00000373808:E385K	ENSP00000373808:E385K	E	-	1	0	FAM169A	74127718	1.000000	0.71417	0.982000	0.44146	0.887000	0.51463	3.932000	0.56537	2.802000	0.96397	0.655000	0.94253	GAA		0.423	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2			13	207	0	0	0	0	13	207				
DIAPH1	1729	broad.mit.edu	37	5	140960400	140960400	+	Silent	SNP	G	G	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:140960400G>C	ENST00000398557.4	-	8	875	c.735C>G	c.(733-735)gtC>gtG	p.V245V	DIAPH1_ENST00000389057.5_Silent_p.V236V|DIAPH1_ENST00000398566.3_Silent_p.V236V|DIAPH1_ENST00000520569.1_Silent_p.V191V|DIAPH1_ENST00000398562.2_Silent_p.V236V|DIAPH1_ENST00000518047.1_Silent_p.V236V|DIAPH1_ENST00000253811.6_Silent_p.V245V|DIAPH1_ENST00000389054.3_Silent_p.V245V	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	245	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGGCTCTGACCAGCAGTA	0.463																																						uc003llb.3		NA																	0				skin(1)	1						c.(733-735)GTC>GTG		diaphanous 1 isoform 1							104.0	100.0	102.0					5																	140960400		1931	4148	6079	SO:0001819	synonymous_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140960400G>C	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.735C>G	5.37:g.140960400G>C						DIAPH1_uc003llc.3_Silent_p.V236V	p.V245V	NM_005219	NP_005210	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	876	-			245			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	ENST00000398557.4	37	c.735C>G	CCDS43374.1																																																																																				0.463	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		8	116	0	0	0	0	8	116				
PCDH12	51294	broad.mit.edu	37	5	141336689	141336689	+	Missense_Mutation	SNP	G	G	A	rs538237213	byFrequency	TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:141336689G>A	ENST00000231484.3	-	1	1938	c.728C>T	c.(727-729)gCg>gTg	p.A243V	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	243	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A243V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGCAAACGCAGGGCTATT	0.512													G|||	4	0.000798722	0.0	0.0	5008	,	,		21012	0.004		0.0	False		,,,				2504	0.0					uc003llx.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)	3						c.(727-729)GCG>GTG		protocadherin 12 precursor							92.0	91.0	91.0					5																	141336689		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336689G>A	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.728C>T	5.37:g.141336689G>A	ENSP00000231484:p.Ala243Val						p.A243V	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1939	-		all_hematologic(541;0.0999)	243			Extracellular (Potential).|Cadherin 2.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.728C>T	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	0.331	-0.956050	0.02267	.	.	ENSG00000113555	ENST00000231484	T	0.59083	0.29	5.32	2.95	0.34219	Cadherin (2);Cadherin-like (1);	0.401822	0.28290	N	0.015889	T	0.21387	0.0515	N	0.01410	-0.885	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.31861	-0.9928	10	0.02654	T	1	.	8.2203	0.31537	0.8358:0.0:0.1642:0.0	.	243	Q9NPG4	PCD12_HUMAN	V	243	ENSP00000231484:A243V	ENSP00000231484:A243V	A	-	2	0	PCDH12	141316873	0.570000	0.26651	0.674000	0.29902	0.929000	0.56500	4.233000	0.58651	0.476000	0.27440	-0.294000	0.09567	GCG		0.512	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		24	93	0	0	0	0	24	93				
TTC1	7265	broad.mit.edu	37	5	159476610	159476610	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:159476610G>A	ENST00000231238.5	+	6	741	c.631G>A	c.(631-633)Gac>Aac	p.D211N	TTC1_ENST00000522793.1_Missense_Mutation_p.D211N|TTC1_ENST00000520274.1_3'UTR	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	211					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		AGCCCTGGAAGACTATAAATC	0.333																																						uc003lxu.2		NA																	0				skin(1)	1						c.(631-633)GAC>AAC		tetratricopeptide repeat domain 1							58.0	61.0	60.0					5																	159476610		2203	4300	6503	SO:0001583	missense	7265				protein folding		unfolded protein binding	g.chr5:159476610G>A	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"""Tetratricopeptide (TTC) repeat domain containing"""	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.631G>A	5.37:g.159476610G>A	ENSP00000231238:p.Asp211Asn						p.D211N	NM_003314	NP_003305	Q99614	TTC1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)	6	681	+	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	211			TPR 3.		B2RCT2|D3DQJ8|Q9BVT3	Missense_Mutation	SNP	ENST00000231238.5	37	c.631G>A	CCDS4348.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279339	0.95489	.	.	ENSG00000113312	ENST00000231238;ENST00000522793;ENST00000518560	T;T;T	0.66460	-0.21;-0.21;-0.03	5.64	5.64	0.86602	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.87935	0.6303	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90797	0.4691	10	0.66056	D	0.02	-27.7866	19.2811	0.94053	0.0:0.0:1.0:0.0	.	211	Q99614	TTC1_HUMAN	N	211;211;43	ENSP00000231238:D211N;ENSP00000429225:D211N;ENSP00000428613:D43N	ENSP00000231238:D211N	D	+	1	0	TTC1	159409188	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.531000	0.90610	2.651000	0.90000	0.655000	0.94253	GAC		0.333	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314		5	52	0	0	0	0	5	52				
ATP10B	23120	broad.mit.edu	37	5	160042962	160042962	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:160042962C>T	ENST00000327245.5	-	17	3382	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	846					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGTCCTCTTCGCTTACAACC	0.527																																						uc003lym.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2536-2538)GAA>AAA		ATPase, class V, type 10B							50.0	50.0	50.0					5																	160042962		1929	4126	6055	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160042962C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2536G>A	5.37:g.160042962C>T	ENSP00000313600:p.Glu846Lys					ATP10B_uc010jit.1_Missense_Mutation_p.E163K|ATP10B_uc003lyn.2_Missense_Mutation_p.E404K	p.E846K	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		17	3383	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	846			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.2536G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157620	0.57368	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.67698	-0.28;-0.28	5.64	5.64	0.86602	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.148664	0.50627	D	0.000112	T	0.79227	0.4410	L	0.52905	1.665	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.949;0.999	T	0.76761	-0.2840	9	.	.	.	.	18.6884	0.91574	0.0:1.0:0.0:0.0	.	454;846	Q2YDW8;O94823	.;AT10B_HUMAN	K	846;454	ENSP00000313600:E846K;ENSP00000431081:E454K	.	E	-	1	0	ATP10B	159975540	0.998000	0.40836	0.984000	0.44739	0.410000	0.31052	3.734000	0.55037	2.657000	0.90304	0.655000	0.94253	GAA		0.527	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		17	55	0	0	0	0	17	55				
ABCC10	89845	broad.mit.edu	37	6	43400422	43400422	+	Missense_Mutation	SNP	G	G	A	rs200394501	byFrequency	TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:43400422G>A	ENST00000372530.4	+	3	919	c.704G>A	c.(703-705)cGt>cAt	p.R235H	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.R192H	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	235					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TTGCTGGCCCGTGGGGCCTGT	0.637													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18099	0.0		0.0	False		,,,				2504	0.0					uc003ouy.1		NA																	0				ovary(6)|central_nervous_system(1)	7						c.(703-705)CGT>CAT		ATP-binding cassette, sub-family C, member 10		G	HIS/ARG,HIS/ARG	0,4404		0,0,2202	42.0	44.0	43.0		704,575	5.5	1.0	6		43	1,8599		0,1,4299	no	missense,missense	ABCC10	NM_001198934.1,NM_033450.2	29,29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	235/1493,192/1465	43400422	1,13003	2202	4300	6502	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400422G>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.704G>A	6.37:g.43400422G>A	ENSP00000361608:p.Arg235His					ABCC10_uc003ouz.1_Missense_Mutation_p.R192H	p.R235H	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		3	919	+	all_lung(25;0.00536)		235					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.704G>A	CCDS56430.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.80	3.894041	0.72639	0.0	1.16E-4	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.91237	-2.8;-2.81	5.54	5.54	0.83059	.	0.122249	0.56097	D	0.000025	D	0.84037	0.5384	L	0.34521	1.04	0.50467	D	0.999877	B;D	0.67145	0.075;0.996	B;P	0.54401	0.064;0.751	T	0.81123	-0.1076	10	0.15066	T	0.55	-48.5134	10.0195	0.42035	0.1496:0.0:0.8504:0.0	.	192;235	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	H	235;192	ENSP00000361608:R235H;ENSP00000244533:R192H	ENSP00000244533:R192H	R	+	2	0	ABCC10	43508400	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.196000	0.58407	2.607000	0.88179	0.561000	0.74099	CGT		0.637	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		11	66	0	0	0	0	11	66				
RIMS1	22999	broad.mit.edu	37	6	73023290	73023290	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:73023290G>A	ENST00000521978.1	+	28	4045	c.4045G>A	c.(4045-4047)Gcc>Acc	p.A1349T	RIMS1_ENST00000538414.1_Missense_Mutation_p.A155T|RIMS1_ENST00000348717.5_Missense_Mutation_p.A1141T|RIMS1_ENST00000517960.1_Missense_Mutation_p.A1141T|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.A1172T|RIMS1_ENST00000401910.3_Missense_Mutation_p.A669T|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.A1198T	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1349	Ser-rich.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGATGTTTCCGCCATTTCCCG	0.448																																						uc003pga.2		NA																	0				ovary(7)|pancreas(2)|breast(1)	10						c.(4045-4047)GCC>ACC		regulating synaptic membrane exocytosis 1							61.0	64.0	63.0					6																	73023290		2038	4196	6234	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:73023290G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4045G>A	6.37:g.73023290G>A	ENSP00000428417:p.Ala1349Thr					RIMS1_uc011dyb.1_Missense_Mutation_p.A746T|RIMS1_uc003pgc.2_Missense_Mutation_p.A798T|RIMS1_uc010kaq.2_Missense_Mutation_p.A669T|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Missense_Mutation_p.A358T|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Missense_Mutation_p.A415T|RIMS1_uc003pge.2_Missense_Mutation_p.A389T|RIMS1_uc011dye.1_Missense_Mutation_p.A155T|RIMS1_uc011dyf.1_Intron	p.A1349T	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			28	4122	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1349			Ser-rich.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.4045G>A	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.452104|5.452104	0.96223|0.96223	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414|ENST00000517433	T;T;T;T;T;T;T;T;T|.	0.36520|.	1.44;2.31;1.62;2.31;1.47;1.64;1.69;1.25;1.54|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.68833|0.68833	0.3044|0.3044	M|M	0.64404|0.64404	1.975|1.975	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.961;1.0;0.991;1.0|.	D;D;D;B;D;P;D|.	0.91635|.	0.999;0.988;0.999;0.371;0.99;0.566;0.981|.	T|T	0.65199|0.65199	-0.6226|-0.6226	10|5	0.45353|.	T|.	0.12|.	-15.8405|-15.8405	19.9179|19.9179	0.97070|0.97070	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	155;1198;669;1141;425;1172;1349|.	B7Z7W2;E9PHR1;E9PF48;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;RIMS1_HUMAN|.	T|H	1172;1198;1172;1141;1198;1141;1349;669;514;397;155|694	ENSP00000430101:A1172T;ENSP00000275037:A1141T;ENSP00000264839:A1198T;ENSP00000429959:A1141T;ENSP00000428417:A1349T;ENSP00000385649:A669T;ENSP00000389503:A514T;ENSP00000359448:A397T;ENSP00000439730:A155T|.	ENSP00000264839:A1198T|.	A|R	+|+	1|2	0|0	RIMS1|RIMS1	73080011|73080011	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	9.476000|9.476000	0.97823|0.97823	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.448	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			11	36	0	0	0	0	11	36				
SYNE1	23345	broad.mit.edu	37	6	152451872	152451872	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:152451872G>A	ENST00000367255.5	-	145	26737	c.26136C>T	c.(26134-26136)gtC>gtT	p.V8712V	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Silent_p.V8664V|SYNE1_ENST00000341594.5_Silent_p.V8324V|SYNE1_ENST00000423061.1_Silent_p.V8664V|SYNE1_ENST00000265368.4_Silent_p.V8712V|SYNE1_ENST00000539504.1_Silent_p.V867V|SYNE1_ENST00000356820.4_Silent_p.V3236V|SYNE1_ENST00000354674.4_Silent_p.V890V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8712	Ser-rich.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGGACTGCTGACAGAGGGTC	0.468										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(26134-26136)GTC>GTT		spectrin repeat containing, nuclear envelope 1							144.0	123.0	130.0					6																	152451872		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152451872G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.26136C>T	6.37:g.152451872G>A		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.V3236V|SYNE1_uc003qos.3_Silent_p.V3236V|SYNE1_uc003qot.3_Silent_p.V8664V|SYNE1_uc003qou.3_Silent_p.V8712V|SYNE1_uc003qop.3_Silent_p.V897V|SYNE1_uc011eez.1_Intron|SYNE1_uc003qoq.3_Intron|SYNE1_uc003qor.3_Intron	p.V8712V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	145	26738	-		Ovarian(120;0.0955)	8712			Ser-rich.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.26136C>T	CCDS5236.2																																																																																				0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		8	34	0	0	0	0	8	34				
SYNE1	23345	broad.mit.edu	37	6	152728244	152728244	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:152728244C>G	ENST00000367255.5	-	45	7229	c.6628G>C	c.(6628-6630)Gag>Cag	p.E2210Q	SYNE1_ENST00000448038.1_Missense_Mutation_p.E2217Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2247Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2217Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2210Q|RP3-398G3.5_ENST00000458194.1_RNA	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2210					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACCATCCCTCAATCTCATCT	0.428										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(6628-6630)GAG>CAG		spectrin repeat containing, nuclear envelope 1							191.0	156.0	168.0					6																	152728244		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152728244C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6628G>C	6.37:g.152728244C>G	ENSP00000356224:p.Glu2210Gln	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E2217Q|SYNE1_uc003qou.3_Missense_Mutation_p.E2210Q|SYNE1_uc010kjb.1_Missense_Mutation_p.E2193Q	p.E2210Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	45	7230	-		Ovarian(120;0.0955)	2210			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.6628G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383698	0.61845	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.51325	1.21;1.21;1.21;1.21;0.71	5.4	5.4	0.78164	.	0.506907	0.19088	N	0.123043	T	0.32585	0.0834	L	0.34521	1.04	0.80722	D	1	B;B;B;B	0.32717	0.181;0.381;0.381;0.328	B;B;B;B	0.37989	0.134;0.166;0.166;0.262	T	0.12553	-1.0543	10	0.34782	T	0.22	.	19.5411	0.95273	0.0:1.0:0.0:0.0	.	2193;2210;2210;2217	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	2210;2217;2210;2217;2247	ENSP00000356224:E2210Q;ENSP00000396024:E2217Q;ENSP00000265368:E2210Q;ENSP00000390975:E2217Q;ENSP00000341887:E2247Q	ENSP00000265368:E2210Q	E	-	1	0	SYNE1	152769937	1.000000	0.71417	0.896000	0.35187	0.840000	0.47671	6.818000	0.75257	2.711000	0.92665	0.561000	0.74099	GAG		0.428	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		8	127	0	0	0	0	8	127				
SYNE1	23345	broad.mit.edu	37	6	152746543	152746543	+	Missense_Mutation	SNP	C	C	G	rs572750497		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:152746543C>G	ENST00000367255.5	-	39	5841	c.5240G>C	c.(5239-5241)aGa>aCa	p.R1747T	SYNE1_ENST00000448038.1_Missense_Mutation_p.R1754T|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1784T|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1754T|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1747T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1747					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGTAAATCTCTCCATCTCTC	0.318										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(5239-5241)AGA>ACA		spectrin repeat containing, nuclear envelope 1							154.0	149.0	151.0					6																	152746543		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152746543C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5240G>C	6.37:g.152746543C>G	ENSP00000356224:p.Arg1747Thr	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.R1754T|SYNE1_uc003qou.3_Missense_Mutation_p.R1747T|SYNE1_uc010kjb.1_Missense_Mutation_p.R1730T	p.R1747T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	39	5842	-		Ovarian(120;0.0955)	1747			Spectrin 2.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.5240G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433166	0.25813	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34472	1.37;1.37;1.37;1.37;1.36	5.71	3.93	0.45458	.	0.171468	0.41605	D	0.000860	T	0.10380	0.0254	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.25105	0.094;0.072;0.072;0.118	B;B;B;B	0.26517	0.049;0.025;0.025;0.07	T	0.09574	-1.0668	10	0.20519	T	0.43	.	4.5135	0.11923	0.0:0.5637:0.1685:0.2678	.	1730;1747;1747;1754	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	1747;1754;1747;1754;1784	ENSP00000356224:R1747T;ENSP00000396024:R1754T;ENSP00000265368:R1747T;ENSP00000390975:R1754T;ENSP00000341887:R1784T	ENSP00000265368:R1747T	R	-	2	0	SYNE1	152788236	1.000000	0.71417	0.912000	0.35992	0.997000	0.91878	2.774000	0.47694	0.765000	0.33221	0.637000	0.83480	AGA		0.318	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		5	163	0	0	0	0	5	163				
C6orf118	168090	broad.mit.edu	37	6	165715113	165715113	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:165715113T>C	ENST00000230301.8	-	2	718	c.698A>G	c.(697-699)aAg>aGg	p.K233R	C6orf118_ENST00000543069.1_Missense_Mutation_p.K129R	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	233										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GAAGTCATTCTTCAGGAGATC	0.607																																						uc003qum.3		NA																	0					0						c.(697-699)AAG>AGG		hypothetical protein LOC168090							67.0	66.0	66.0					6																	165715113		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715113T>C		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.698A>G	6.37:g.165715113T>C	ENSP00000230301:p.Lys233Arg					C6orf118_uc011egi.1_RNA	p.K233R	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	734	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	233					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.698A>G	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	T	7.235	0.600125	0.13939	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.14516	2.5;2.5	4.92	1.1	0.20463	.	0.744958	0.12737	N	0.443366	T	0.03783	0.0107	L	0.43923	1.385	0.09310	N	1	P	0.41848	0.763	B	0.39840	0.311	T	0.33624	-0.9861	10	0.49607	T	0.09	.	3.8691	0.09029	0.148:0.2479:0.0:0.6042	.	233	Q5T5N4	CF118_HUMAN	R	233;129	ENSP00000230301:K233R;ENSP00000439288:K129R	ENSP00000230301:K233R	K	-	2	0	C6orf118	165635103	0.011000	0.17503	0.002000	0.10522	0.080000	0.17528	0.464000	0.21988	-0.045000	0.13468	-0.326000	0.08463	AAG		0.607	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		3	101	0	0	0	0	3	101				
ASZ1	136991	broad.mit.edu	37	7	117007450	117007450	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr7:117007450C>A	ENST00000284629.2	-	12	1293	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TCACTCAAATCTTCAACATTA	0.303																																						uc003vjb.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1231-1233)GAT>TAT		ankyrin repeat, SAM and basic leucine zipper							51.0	51.0	51.0					7																	117007450		2202	4296	6498	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117007450C>A	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.1231G>T	7.37:g.117007450C>A	ENSP00000284629:p.Asp411Tyr					ASZ1_uc011kno.1_Missense_Mutation_p.D402Y|ASZ1_uc011knp.1_Missense_Mutation_p.D203Y	p.D411Y	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		12	1294	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		411						Missense_Mutation	SNP	ENST00000284629.2	37	c.1231G>T	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.008658	0.54361	.	.	ENSG00000154438	ENST00000284629	D	0.86432	-2.12	5.3	2.46	0.29980	.	0.105721	0.64402	D	0.000007	D	0.84442	0.5473	L	0.46157	1.445	0.46701	D	0.999162	D;D	0.55385	0.971;0.971	P;P	0.50617	0.646;0.646	T	0.82404	-0.0474	10	0.87932	D	0	-40.997	5.5554	0.17113	0.0:0.6088:0.1569:0.2343	.	402;411	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	Y	411	ENSP00000284629:D411Y	ENSP00000284629:D411Y	D	-	1	0	ASZ1	116794686	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	1.785000	0.38684	0.714000	0.32081	0.591000	0.81541	GAT		0.303	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		4	46	1	0	0.00116845	0.00129583	4	46				
RIMS2	9699	broad.mit.edu	37	8	104897724	104897724	+	Silent	SNP	A	A	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr8:104897724A>G	ENST00000436393.2	+	2	472	c.231A>G	c.(229-231)agA>agG	p.R77R	RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Silent_p.R299R|RIMS2_ENST00000507740.1_Silent_p.R107R|RIMS2_ENST00000262231.10_Silent_p.R107R			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	330	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				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)			CCAACAGGAGAAGTCATAGGC	0.413										HNSCC(12;0.0054)																												uc003yls.2		NA																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(229-231)AGA>AGG		regulating synaptic membrane exocytosis 2							103.0	96.0	98.0					8																	104897724		1895	4115	6010	SO:0001819	synonymous_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104897724A>G	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.231A>G	8.37:g.104897724A>G		HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Silent_p.R299R|RIMS2_uc003ylw.2_Silent_p.R107R|RIMS2_uc003ylq.2_Silent_p.R107R|RIMS2_uc003ylr.2_Silent_p.R107R	p.R77R	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	472	+			330					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37	c.231A>G																																																																																					0.413	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		4	151	0	0	0	0	4	151				
ASAP1	50807	broad.mit.edu	37	8	131127917	131127917	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr8:131127917C>T	ENST00000518721.1	-	23	2356	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q	ASAP1_ENST00000357668.1_Missense_Mutation_p.R710Q	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	710					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTCCTCCTGTCGAAGATTCCA	0.413																																						uc003yta.1		NA																	0				ovary(4)	4						c.(2128-2130)CGA>CAA		development and differentiation enhancing factor							301.0	263.0	276.0					8																	131127917		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131127917C>T	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2129G>A	8.37:g.131127917C>T	ENSP00000429900:p.Arg710Gln					ASAP1_uc003ysz.1_Missense_Mutation_p.R521Q|ASAP1_uc011liw.1_Missense_Mutation_p.R703Q	p.R710Q	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			22	2157	-			710					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.2129G>A	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.453057	0.84209	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.05717	3.4;3.4	5.17	5.17	0.71159	Ankyrin repeat-containing domain (1);	0.062767	0.64402	D	0.000006	T	0.15046	0.0363	L	0.28608	0.87	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.77557	0.815;0.815;0.99	T	0.20773	-1.0265	10	0.20046	T	0.44	.	18.0242	0.89263	0.0:1.0:0.0:0.0	.	710;710;713	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	Q	713;710;710	ENSP00000350297:R710Q;ENSP00000429900:R710Q	ENSP00000344591:R713Q	R	-	2	0	ASAP1	131197099	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.995000	0.70631	2.581000	0.87130	0.650000	0.86243	CGA		0.413	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		32	478	0	0	0	0	32	478				
TAF1L	138474	broad.mit.edu	37	9	32635464	32635464	+	Silent	SNP	C	C	T	rs374288765		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr9:32635464C>T	ENST00000242310.4	-	1	203	c.114G>A	c.(112-114)gcG>gcA	p.A38A	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	38					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAAGGATACCCGCTAAAGTAA	0.567																																						uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(112-114)GCG>GCA		TBP-associated factor RNA polymerase 1-like							89.0	83.0	85.0					9																	32635464		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32635464C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.114G>A	9.37:g.32635464C>T						uc003zrh.1_Intron	p.A38A	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	204	-			38					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.114G>A	CCDS35003.1																																																																																				0.567	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			7	153	0	0	0	0	7	153				
CTSL	1514	broad.mit.edu	37	9	90343233	90343233	+	Silent	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr9:90343233C>T	ENST00000343150.5	+	4	1208	c.318C>T	c.(316-318)ttC>ttT	p.F106F	CTSL_ENST00000495822.1_Intron|CTSL_ENST00000342020.5_Silent_p.F106F|CTSL_ENST00000340342.6_Silent_p.F106F			P07711	CATL1_HUMAN	cathepsin L	106					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										GGAAAGTGTTCCAGGAACCTC	0.458																																						uc004aph.2		NA																	0				ovary(3)	3						c.(316-318)TTC>TTT		cathepsin L1 preproprotein	Glucagon recombinant(DB00040)						79.0	78.0	78.0					9																	90343233		2203	4300	6503	SO:0001819	synonymous_variant	1514				macrophage apoptosis|proteolysis	extracellular region|lysosome|nucleus	cysteine-type endopeptidase activity|histone binding	g.chr9:90343233C>T	X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.318C>T	9.37:g.90343233C>T						CTSL1_uc004api.2_Silent_p.F106F|CTSL1_uc004apj.2_Silent_p.F51F|CTSL1_uc010mqh.2_Intron|CTSL1_uc004apk.2_Silent_p.F106F|CTSL1_uc004apl.2_Silent_p.F106F	p.F106F	NM_001912	NP_001903	P07711	CATL1_HUMAN			4	668	+			106					Q6IAV1|Q96QJ0	Silent	SNP	ENST00000343150.5	37	c.318C>T	CCDS6675.1																																																																																				0.458	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		15	114	0	0	0	0	15	114				
OR1L4	254973	broad.mit.edu	37	9	125486377	125486377	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr9:125486377C>A	ENST00000259466.1	+	1	109	c.109C>A	c.(109-111)Cta>Ata	p.L37I		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CATCATGTACCTACTCACTGC	0.498																																						uc004bmu.1		NA																	0					0						c.(109-111)CTA>ATA		olfactory receptor, family 1, subfamily L,							209.0	192.0	198.0					9																	125486377		2203	4300	6503	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486377C>A		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.109C>A	9.37:g.125486377C>A	ENSP00000259466:p.Leu37Ile						p.L37I	NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN			1	109	+			37			Helical; Name=1; (Potential).		Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.109C>A	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	8.737	0.918044	0.17982	.	.	ENSG00000136939	ENST00000259466	T	0.16457	2.34	3.94	2.98	0.34508	.	0.210316	0.23995	N	0.042540	T	0.16214	0.0390	L	0.54965	1.715	0.35971	D	0.83529	B	0.22683	0.073	B	0.20384	0.029	T	0.14643	-1.0465	10	0.72032	D	0.01	-11.2586	8.5573	0.33489	0.1679:0.6684:0.1637:0.0	.	37	Q8NGR5	OR1L4_HUMAN	I	37	ENSP00000259466:L37I	ENSP00000259466:L37I	L	+	1	2	OR1L4	124526198	0.000000	0.05858	0.999000	0.59377	0.172000	0.22775	-1.536000	0.02208	2.023000	0.59567	0.305000	0.20034	CTA		0.498	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			15	246	1	0	2.62e-11	3.09e-11	15	246				
OR13H1	347468	broad.mit.edu	37	X	130678201	130678201	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chrX:130678201G>A	ENST00000338616.3	+	1	252	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TATTCACTTTGACCCCAACCT	0.413																																						uc011muw.1		NA																	0					0						c.(154-156)GAC>AAC		olfactory receptor, family 13, subfamily H,							198.0	164.0	176.0					X																	130678201		2203	4300	6503	SO:0001583	missense	347468				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chrX:130678201G>A		CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.154G>A	X.37:g.130678201G>A	ENSP00000340748:p.Asp52Asn					IGSF1_uc004ewf.2_Intron	p.D52N	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN			1	154	+	Acute lymphoblastic leukemia(192;0.000636)		52			Cytoplasmic (Potential).		B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	37	c.154G>A	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934997	0.34189	.	.	ENSG00000171054	ENST00000338616	T	0.00523	6.83	4.79	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	U	0.000832	T	0.01124	0.0037	L	0.60455	1.87	0.09310	N	1	D	0.76494	0.999	D	0.63877	0.919	T	0.45571	-0.9252	10	0.66056	D	0.02	.	9.8519	0.41061	0.1022:0.0:0.8978:0.0	.	52	Q8NG92	O13H1_HUMAN	N	52	ENSP00000340748:D52N	ENSP00000340748:D52N	D	+	1	0	OR13H1	130505882	0.000000	0.05858	0.012000	0.15200	0.004000	0.04260	0.484000	0.22308	1.022000	0.39626	-0.192000	0.12808	GAC		0.413	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1			61	177	0	0	0	0	61	177				
IL9R	3581	broad.mit.edu	37	X	155232635	155232635	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chrX:155232635C>A	ENST00000244174.5	+	2	272	c.93C>A	c.(91-93)tgC>tgA	p.C31*	IL9R_ENST00000540897.1_Nonsense_Mutation_p.C68*|IL9R_ENST00000369423.2_Nonsense_Mutation_p.C78*|IL9R_ENST00000424344.3_Nonsense_Mutation_p.C10*	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	31					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTGCATCTGCATCTGCACCT	0.597																																						uc004fnv.1		NA																	0					0						c.(91-93)TGC>TGA		interleukin 9 receptor precursor							184.0	180.0	181.0					X																	155232635		2203	4296	6499	SO:0001587	stop_gained	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155232635C>A	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.93C>A	X.37:g.155232635C>A	ENSP00000244174:p.Cys31*					IL9R_uc010nvn.2_Nonsense_Mutation_p.C10*|IL9R_uc004fnu.1_Nonsense_Mutation_p.C78*	p.C31*	NM_002186	NP_002177	Q01113	IL9R_HUMAN			2	272	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		31					B9ZVT0|Q14634|Q8WWU1|Q96TF0	Nonsense_Mutation	SNP	ENST00000244174.5	37	c.93C>A	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	c	4.109	0.018429	0.07959	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	.	.	.	0.836	-0.133	0.13485	.	1.234900	0.06036	N	0.653912	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-14.6486	.	.	.	.	.	.	.	X	31;10;10;78;68	.	ENSP00000244174:C31X	C	+	3	2	IL9R	154885829	0.001000	0.12720	0.004000	0.12327	0.268000	0.26511	-0.231000	0.09069	-0.112000	0.11979	0.287000	0.19450	TGC		0.597	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		51	134	1	0	6.15e-18	7.4e-18	51	134				
ZHX3	23051	broad.mit.edu	37	20	39831282	39831285	+	Frame_Shift_Del	DEL	GTTT	GTTT	-			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr20:39831282_39831285delGTTT	ENST00000309060.3	-	4	2687_2690	c.2272_2275delAAAC	c.(2272-2277)aaactgfs	p.KL758fs	ZHX3_ENST00000540170.1_Frame_Shift_Del_p.KL758fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.KL758fs|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.KL758fs|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.KL758fs|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.KL758fs			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	758					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TGCTCTGCCAGTTTGTTTGACTCA	0.544																																						uc002xjs.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2272-2277)AAACTGfs		zinc fingers and homeoboxes 3																																				SO:0001589	frameshift_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39831282_39831285delGTTT	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2272_2275delAAAC	20.37:g.39831286_39831289delGTTT	ENSP00000312222:p.Lys758fs					ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Frame_Shift_Del_p.K758fs|ZHX3_uc002xjt.1_Frame_Shift_Del_p.K758fs|ZHX3_uc002xju.1_Frame_Shift_Del_p.K758fs|ZHX3_uc002xjv.1_Frame_Shift_Del_p.K758fs|ZHX3_uc002xjw.1_Frame_Shift_Del_p.K758fs|ZHX3_uc010ggg.1_Frame_Shift_Del_p.K758fs	p.K758fs	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN			3	2650_2653	-		Myeloproliferative disorder(115;0.00425)	758_759					E1P5W5|F5H820|O43145|Q6NUJ7	Frame_Shift_Del	DEL	ENST00000309060.3	37	c.2272_2275delAAAC	CCDS13315.1																																																																																				0.544	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		24	125	NA	NA	NA	NA	24	125	---	---	---	---
SIMC1	375484	broad.mit.edu	37	5	175717758	175717759	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:175717758_175717759delCT	ENST00000443967.1	+	4	1581_1582	c.1174_1175delCT	c.(1174-1176)ctcfs	p.L392fs	SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Frame_Shift_Del_p.L411fs|SIMC1_ENST00000430704.2_Intron			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	392							SUMO polymer binding (GO:0032184)	p.L392F(1)									AGTTCCTTGGCTCTCTGTCATG	0.515																																						uc003mds.3		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(1174-1176)CTCfs		RecName: Full=Uncharacterized protein C5orf25;																																				SO:0001589	frameshift_variant	375484							g.chr5:175717758_175717759delCT	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1174_1175delCT	5.37:g.175717762_175717763delCT	ENSP00000406571:p.Leu392fs					C5orf25_uc003mdt.3_Intron|C5orf25_uc003mdr.3_Intron|C5orf25_uc011dfk.1_Frame_Shift_Del_p.L411fs	p.L392fs			Q8NDZ2	CE025_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)	4	1581_1582	+	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	392					J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Frame_Shift_Del	DEL	ENST00000443967.1	37	c.1174_1175delCT																																																																																					0.515	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		15	110	NA	NA	NA	NA	15	110	---	---	---	---
STAU2	27067	broad.mit.edu	37	8	74507470	74507471	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr8:74507470_74507471insT	ENST00000521451.1	-	6	807_808	c.431_432insA	c.(430-432)aatfs	p.N144fs	STAU2_ENST00000523558.1_Frame_Shift_Ins_p.N192fs|STAU2_ENST00000519961.1_Frame_Shift_Ins_p.N364fs|STAU2_ENST00000517542.1_Frame_Shift_Ins_p.N326fs|STAU2_ENST00000355780.5_Frame_Shift_Ins_p.N332fs|STAU2_ENST00000522695.1_Frame_Shift_Ins_p.N332fs|STAU2_ENST00000524300.1_Frame_Shift_Ins_p.N364fs|STAU2_ENST00000521210.1_Frame_Shift_Ins_p.N260fs|STAU2_ENST00000522509.1_Frame_Shift_Ins_p.N332fs|STAU2_ENST00000521727.1_Frame_Shift_Ins_p.N344fs			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	364	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.N332fs*67(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CTTCTGCAGCATTTTTTTTGGC	0.327																																						uc003xzm.2		NA																	1	Deletion - Frameshift(1)		ovary(1)		0						c.(1090-1092)AATfs		staufen homolog 2 isoform e																																				SO:0001589	frameshift_variant	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74507470_74507471insT	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.432dupA	8.37:g.74507478_74507478dupT	ENSP00000428476:p.Asn144fs					STAU2_uc011lfg.1_Frame_Shift_Ins_p.N192fs|STAU2_uc003xzn.2_Frame_Shift_Ins_p.N332fs|STAU2_uc011lfh.1_Frame_Shift_Ins_p.N260fs|STAU2_uc003xzo.2_Frame_Shift_Ins_p.N364fs|STAU2_uc003xzp.2_Frame_Shift_Ins_p.N332fs|STAU2_uc011lfi.1_Frame_Shift_Ins_p.N326fs|STAU2_uc003xzq.2_Frame_Shift_Ins_p.N144fs|STAU2_uc010lzk.2_Frame_Shift_Ins_p.N332fs|STAU2_uc010lzl.1_Frame_Shift_Ins_p.N192fs	p.N364fs	NM_014393	NP_055208	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		11	1327_1328	-	Breast(64;0.0138)		364			DRBM 4.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Frame_Shift_Ins	INS	ENST00000521451.1	37	c.1091_1092insA																																																																																					0.327	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	NM_001164380		7	254	NA	NA	NA	NA	7	254	---	---	---	---
