#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MARCH9	92979	broad.mit.edu	37	12	58152664	58152664	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:58152664G>C	ENST00000266643.5	+	4	1456	c.1025G>C	c.(1024-1026)aGg>aCg	p.R342T	MARCH9_ENST00000548358.1_Missense_Mutation_p.R229T	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	342					protein ubiquitination (GO:0016567)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GTTGTCATGAGGGTCACTACA	0.557																																						ENST00000266643.5																			0				autonomic_ganglia(1)|large_intestine(2)|lung(1)	4						c.(1024-1026)aGg>aCg		membrane-associated ring finger (C3HC4) 9							23.0	23.0	23.0					12																	58152664		2177	4263	6440	SO:0001583	missense	92979					Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding	g.chr12:58152664G>C	BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.1025G>C	12.37:g.58152664G>C	ENSP00000266643:p.Arg342Thr					MARCH9_ENST00000548358.1_Missense_Mutation_p.R229T	p.R342T	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	1456	+	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		342					B2R9U9|Q86VN5|Q96GG2	Missense_Mutation	SNP	ENST00000266643.5	37	c.1025G>C	CCDS31847.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231662	0.79688	.	.	ENSG00000139266	ENST00000266643;ENST00000548358	T;T	0.55760	1.11;0.5	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.75302	0.3831	M	0.79805	2.47	0.80722	D	1	P;D	0.89917	0.84;1.0	P;D	0.83275	0.702;0.996	T	0.77464	-0.2578	10	0.87932	D	0	.	18.4399	0.90662	0.0:0.0:1.0:0.0	.	229;342	Q86YJ5-2;Q86YJ5	.;MARH9_HUMAN	T	342;229	ENSP00000266643:R342T;ENSP00000446758:R229T	ENSP00000266643:R342T	R	+	2	0	MARCH9	56438931	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.397000	0.97276	2.890000	0.99128	0.655000	0.94253	AGG		0.557	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409244.1	NM_138396		6	370	0	0	0	1	0	6	370				
PSPH	5723	broad.mit.edu	37	7	56087299	56087299	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:56087299C>T	ENST00000395471.3	-	5	1074	c.269G>A	c.(268-270)gGc>gAc	p.G90D	PSPH_ENST00000275605.3_Missense_Mutation_p.G90D|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	90					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTACCTTATGCCGGGGGTCAG	0.567																																						ENST00000395471.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11						c.(268-270)gGc>gAc		phosphoserine phosphatase							46.0	42.0	43.0					7																	56087299		2203	4300	6503	SO:0001583	missense	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56087299C>T	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.269G>A	7.37:g.56087299C>T	ENSP00000378854:p.Gly90Asp					PSPH_ENST00000275605.3_Missense_Mutation_p.G90D|PSPH_ENST00000459834.1_Intron	p.G90D			P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	1074	-	Breast(14;0.214)		90					B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	c.269G>A	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062704	0.76187	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.89123	-2.47;-2.47;-2.47	5.03	5.03	0.67393	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94251	0.8154	M	0.81239	2.535	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.67900	0.954;0.952	D	0.94788	0.7959	10	0.62326	D	0.03	-14.6976	17.3406	0.87294	0.0:1.0:0.0:0.0	.	90;90	Q53EY1;P78330	.;SERB_HUMAN	D	90	ENSP00000275605:G90D;ENSP00000378854:G90D;ENSP00000398653:G90D	ENSP00000275605:G90D	G	-	2	0	PSPH	56054793	1.000000	0.71417	0.894000	0.35097	0.380000	0.30137	7.400000	0.79949	2.337000	0.79520	0.591000	0.81541	GGC		0.567	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		7	998	0	0	0	1	0	7	998				
VSIG1	340547	broad.mit.edu	37	X	107316040	107316040	+	Silent	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:107316040C>T	ENST00000217957.5	+	4	663	c.546C>T	c.(544-546)atC>atT	p.I182I	VSIG1_ENST00000415430.3_Silent_p.I218I|VSIG1_ENST00000485533.1_3'UTR	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	182	Ig-like C2-type 2.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GAAGAGACATCGTGCCAGTGA	0.507																																						ENST00000415430.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(652-654)atC>atT		V-set and immunoglobulin domain containing 1							171.0	133.0	146.0					X																	107316040		2203	4300	6503	SO:0001819	synonymous_variant	340547					integral to membrane		g.chrX:107316040C>T	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.546C>T	X.37:g.107316040C>T						VSIG1_ENST00000217957.5_Silent_p.I182I|VSIG1_ENST00000485533.1_3'UTR	p.I218I	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN			5	815	+			182			Ig-like C2-type 2.		C9J4P2|Q6MZS4	Silent	SNP	ENST00000217957.5	37	c.654C>T	CCDS14535.1																																																																																				0.507	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		33	71	0	0	0	1	0	33	71				
SLC5A5	6528	broad.mit.edu	37	19	18001745	18001745	+	Missense_Mutation	SNP	G	G	A	rs570968775	byFrequency	TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:18001745G>A	ENST00000222248.3	+	14	2049	c.1702G>A	c.(1702-1704)Gca>Aca	p.A568T		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	568					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.A568T(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTGGGACCTCGCACGGCAGAC	0.592													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15903	0.0		0.0	False		,,,				2504	0.0				Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			1	Substitution - Missense(1)	p.A568T(1)	large_intestine(1)	NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(1702-1704)Gca>Aca		solute carrier family 5 (sodium/iodide cotransporter), member 5							114.0	111.0	112.0					19																	18001745		2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:18001745G>A		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1702G>A	19.37:g.18001745G>A	ENSP00000222248:p.Ala568Thr						p.A568T	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			14	2049	+			568					O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.1702G>A	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	G	8.859	0.946508	0.18356	.	.	ENSG00000105641	ENST00000222248	D	0.85088	-1.94	4.71	-3.38	0.04883	.	99.577500	0.00166	N	0.000007	T	0.68430	0.3000	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.59611	-0.7422	10	0.10902	T	0.67	.	5.113	0.14819	0.5474:0.0:0.3142:0.1385	.	568	Q92911	SC5A5_HUMAN	T	568	ENSP00000222248:A568T	ENSP00000222248:A568T	A	+	1	0	SLC5A5	17862745	0.000000	0.05858	0.000000	0.03702	0.634000	0.38068	-0.063000	0.11655	-0.811000	0.04369	0.491000	0.48974	GCA		0.592	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			34	163	0	0	0	1	0	34	163				
IGSF1	3547	broad.mit.edu	37	X	130409141	130409141	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:130409141C>T	ENST00000361420.3	-	17	3383	c.3304G>A	c.(3304-3306)Ggg>Agg	p.G1102R	IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Missense_Mutation_p.G1107R|IGSF1_ENST00000370910.1_Missense_Mutation_p.G1093R|IGSF1_ENST00000370904.1_Missense_Mutation_p.G1093R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1102	Ig-like C2-type 11.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCTGAGCCCCCTCCTTCAAC	0.542																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(3277-3279)Ggg>Agg		immunoglobulin superfamily, member 1							158.0	158.0	158.0					X																	130409141		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409141C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3304G>A	X.37:g.130409141C>T	ENSP00000355010:p.Gly1102Arg					IGSF1_ENST00000370903.3_Missense_Mutation_p.G1107R|IGSF1_ENST00000370910.1_Missense_Mutation_p.G1093R|IGSF1_ENST00000361420.3_Missense_Mutation_p.G1102R	p.G1093R			Q8N6C5	IGSF1_HUMAN			23	4187	-			1102			Ig-like C2-type 11.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3277G>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265349	0.40095	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.01215	5.16;5.16;5.16;5.16	4.83	4.83	0.62350	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.413735	0.23670	N	0.045739	T	0.06416	0.0165	M	0.79258	2.445	0.24516	N	0.994185	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.91635	0.983;0.957;0.999	T	0.03335	-1.1047	10	0.62326	D	0.03	.	12.231	0.54488	0.0:1.0:0.0:0.0	.	1093;546;1102	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	R	1093;1102;1093;1107	ENSP00000359947:G1093R;ENSP00000355010:G1102R;ENSP00000359941:G1093R;ENSP00000359940:G1107R	ENSP00000355010:G1102R	G	-	1	0	IGSF1	130236822	0.278000	0.24230	0.226000	0.23910	0.374000	0.29953	3.347000	0.52200	2.376000	0.81061	0.594000	0.82650	GGG		0.542	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			6	404	0	0	0	1	0	6	404				
GRM5	2915	broad.mit.edu	37	11	88780946	88780946	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr11:88780946G>A	ENST00000305447.4	-	1	244	c.95C>T	c.(94-96)cCg>cTg	p.P32L	GRM5_ENST00000418177.2_Missense_Mutation_p.P32L|GRM5_ENST00000305432.5_Missense_Mutation_p.P32L|GRM5_ENST00000393294.3_Missense_Mutation_p.P32L|GRM5_ENST00000393297.1_Missense_Mutation_p.P32L|GRM5_ENST00000455756.2_Missense_Mutation_p.P32L	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	32					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.P32Q(2)|p.P32L(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GATGTCACCCGGCATGTGAGC	0.502																																						ENST00000418177.2																			3	Substitution - Missense(3)	p.P32Q(2)|p.P32L(1)	lung(2)|central_nervous_system(1)	NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(94-96)cCg>cTg		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						72.0	65.0	67.0					11																	88780946		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780946G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.95C>T	11.37:g.88780946G>A	ENSP00000306138:p.Pro32Leu					GRM5_ENST00000455756.2_Missense_Mutation_p.P32L|GRM5_ENST00000305447.4_Missense_Mutation_p.P32L|GRM5_ENST00000393294.3_Missense_Mutation_p.P32L|GRM5_ENST00000305432.5_Missense_Mutation_p.P32L|GRM5_ENST00000393297.1_Missense_Mutation_p.P32L	p.P32L			P41594	GRM5_HUMAN			2	462	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	32					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.95C>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301676	0.60195	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.93	5.93	0.95920	.	0.053050	0.85682	D	0.000000	D	0.87517	0.6197	M	0.61703	1.905	0.54753	D	0.999988	P;D;P	0.55800	0.838;0.973;0.955	B;B;B	0.43536	0.156;0.423;0.243	D	0.86749	0.1959	9	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	32;32;32	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	L	32	ENSP00000402912:P32L;ENSP00000405690:P32L;ENSP00000305905:P32L;ENSP00000306138:P32L;ENSP00000376975:P32L;ENSP00000376972:P32L	.	P	-	2	0	GRM5	88420594	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	4.744000	0.62118	2.802000	0.96397	0.563000	0.77884	CCG		0.502	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		13	31	0	0	0	1	0	13	31				
MBD6	114785	broad.mit.edu	37	12	57920699	57920699	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:57920699G>C	ENST00000355673.3	+	7	2127	c.1771G>C	c.(1771-1773)Gag>Cag	p.E591Q	MBD6_ENST00000431731.2_Missense_Mutation_p.E591Q	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	591	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGCCCCAGGAGAGCCTGAAGG	0.617																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(1771-1773)Gag>Cag		methyl-CpG binding domain protein 6							106.0	93.0	98.0					12																	57920699		2203	4300	6503	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57920699G>C	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1771G>C	12.37:g.57920699G>C	ENSP00000347896:p.Glu591Gln					MBD6_ENST00000431731.2_Missense_Mutation_p.E591Q	p.E591Q	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			7	2127	+			591			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.1771G>C	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260774	0.39995	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	4.07	4.07	0.47477	.	0.122707	0.36303	N	0.002663	T	0.32496	0.0831	N	0.08118	0	0.37802	D	0.927736	P;P	0.50819	0.939;0.844	P;B	0.45474	0.482;0.347	T	0.35226	-0.9797	9	0.33940	T	0.23	-6.0061	15.5573	0.76208	0.0:0.0:1.0:0.0	.	591;591	Q6P0P0;Q96DN6	.;MBD6_HUMAN	Q	591;591;55	.	ENSP00000300263:E55Q	E	+	1	0	MBD6	56206966	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.637000	0.54324	2.283000	0.76528	0.561000	0.74099	GAG		0.617	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			17	1494	0	0	0	1	0	17	1494				
ECSIT	51295	broad.mit.edu	37	19	11624781	11624781	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:11624781G>A	ENST00000270517.7	-	3	487	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	RN7SL833P_ENST00000498758.2_RNA|ECSIT_ENST00000252440.7_Missense_Mutation_p.R118W|ECSIT_ENST00000591104.1_Missense_Mutation_p.R118W|ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000592312.1_Missense_Mutation_p.R2W|ECSIT_ENST00000417981.2_Intron	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	118					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CCATACTCCCGCATCTTGCGC	0.587																																						ENST00000270517.7																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(352-354)Cgg>Tgg		ECSIT signalling integrator							126.0	88.0	101.0					19																	11624781		2203	4300	6503	SO:0001583	missense	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11624781G>A	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.352C>T	19.37:g.11624781G>A	ENSP00000270517:p.Arg118Trp					ECSIT_ENST00000591104.1_Missense_Mutation_p.R118W|ECSIT_ENST00000252440.7_Missense_Mutation_p.R118W|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000592312.1_Missense_Mutation_p.R2W	p.R118W	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN			3	487	-			118					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	37	c.352C>T	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	g	23.5	4.425605	0.83667	.	.	ENSG00000130159	ENST00000270517;ENST00000252440	T;T	0.77620	-1.11;-1.11	5.71	4.62	0.57501	.	0.392960	0.27595	N	0.018667	D	0.83691	0.5309	L	0.57536	1.79	0.33735	D	0.618725	D;D	0.76494	0.999;0.999	D;D	0.65140	0.932;0.912	D	0.87809	0.2630	10	0.66056	D	0.02	-14.992	12.5135	0.56019	0.0:0.0:0.7214:0.2786	.	118;118	Q9BQ95-2;Q9BQ95	.;ECSIT_HUMAN	W	118	ENSP00000270517:R118W;ENSP00000252440:R118W	ENSP00000252440:R118W	R	-	1	2	ECSIT	11485781	1.000000	0.71417	0.979000	0.43373	0.923000	0.55619	3.850000	0.55918	2.699000	0.92147	0.543000	0.68304	CGG		0.587	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		4	121	0	0	0	1	0	4	121				
ANKRD30B	374860	broad.mit.edu	37	18	14850277	14850277	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr18:14850277C>A	ENST00000358984.4	+	35	3283	c.3103C>A	c.(3103-3105)Ccc>Acc	p.P1035T		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1035										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAAAATTAGACCCGAAGAGCA	0.284																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(3103-3105)Ccc>Acc		ankyrin repeat domain 30B							60.0	52.0	55.0					18																	14850277		692	1576	2268	SO:0001583	missense	374860							g.chr18:14850277C>A	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3103C>A	18.37:g.14850277C>A	ENSP00000351875:p.Pro1035Thr						p.P1035T	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			35	3283	+			1120					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.3103C>A	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.276368	0.00254	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.16196	2.36	1.48	0.229	0.15368	.	.	.	.	.	T	0.09423	0.0232	N	0.22421	0.69	0.58432	D	0.999997	B;B	0.25904	0.013;0.137	B;B	0.16289	0.005;0.015	T	0.14587	-1.0467	9	0.66056	D	0.02	.	5.6065	0.17383	0.7105:0.2894:0.0:0.0	.	1120;1035	Q9BXX2;F8WAG3	AN30B_HUMAN;.	T	1035;429;455	ENSP00000351875:P1035T	ENSP00000277669:P455T	P	+	1	0	ANKRD30B	14840277	0.929000	0.31497	0.032000	0.17829	0.027000	0.11550	1.633000	0.37113	0.056000	0.16144	0.173000	0.16961	CCC		0.284	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		7	21	1	0	2.0095e-06	1	2.09687e-06	7	21				
TRIM39	56658	broad.mit.edu	37	6	30309546	30309546	+	Missense_Mutation	SNP	G	G	A	rs199883161		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:30309546G>A	ENST00000396547.1	+	8	1227	c.1067G>A	c.(1066-1068)cGt>cAt	p.R356H	TRIM39_ENST00000540416.1_Missense_Mutation_p.R326H|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.R238H|TRIM39_ENST00000396548.1_Missense_Mutation_p.R326H|TRIM39_ENST00000376656.4_Missense_Mutation_p.R356H|TRIM39_ENST00000396551.3_Missense_Mutation_p.R326H|TRIM39_ENST00000376659.5_Missense_Mutation_p.R326H			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	356	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						TCAGAGGATCGTAAGAGCGTC	0.567																																						ENST00000376659.5																			0				ovary(3)	3						c.(976-978)cGt>cAt		tripartite motif containing 39							91.0	61.0	72.0					6																	30309546		1511	2708	4219	SO:0001583	missense	56658							g.chr6:30309546G>A	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1067G>A	6.37:g.30309546G>A	ENSP00000379796:p.Arg356His					TRIM39_ENST00000376656.4_Missense_Mutation_p.R356H|TRIM39_ENST00000396551.3_Missense_Mutation_p.R326H|TRIM39_ENST00000540416.1_Missense_Mutation_p.R326H|TRIM39_ENST00000396547.1_Missense_Mutation_p.R356H|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.R238H|TRIM39_ENST00000396548.1_Missense_Mutation_p.R326H	p.R326H	NM_172016.2	NP_742013.1					8	1575	+								Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	c.977G>A	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773365	0.69992	.	.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556	T;T;T;T;T;T;T	0.11930	3.57;2.73;3.57;3.57;3.57;2.73;3.57	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.089238	0.48286	D	0.000192	T	0.31389	0.0795	M	0.87682	2.9	0.33064	D	0.534494	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.909;0.998;0.988	T	0.31251	-0.9950	10	0.46703	T	0.11	.	12.4587	0.55718	0.0:0.0:0.8328:0.1672	.	240;356;326	F5H2V3;Q9HCM9;Q9HCM9-2	.;TRI39_HUMAN;.	H	326;356;356;326;326;240;326;326;356;238	ENSP00000379800:R326H;ENSP00000365844:R356H;ENSP00000439400:R326H;ENSP00000379797:R326H;ENSP00000365847:R326H;ENSP00000379796:R356H;ENSP00000424048:R238H	ENSP00000365844:R356H	R	+	2	0	TRIM39-RPP21;TRIM39	30417525	0.007000	0.16637	1.000000	0.80357	0.993000	0.82548	1.585000	0.36600	2.730000	0.93505	0.655000	0.94253	CGT		0.567	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		20	29	0	0	0	1	0	20	29				
SMC6	79677	broad.mit.edu	37	2	17884529	17884529	+	Silent	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:17884529C>T	ENST00000448223.2	-	19	2306	c.2037G>A	c.(2035-2037)acG>acA	p.T679T	SMC6_ENST00000351948.4_Silent_p.T679T|SMC6_ENST00000381272.4_Silent_p.T705T|SMC6_ENST00000402989.1_Silent_p.T679T	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	679					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATATCTGGGCCGTCTTATTTT	0.313																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(2035-2037)acG>acA		structural maintenance of chromosomes 6							81.0	85.0	84.0					2																	17884529		2203	4297	6500	SO:0001819	synonymous_variant	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17884529C>T	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.2037G>A	2.37:g.17884529C>T						SMC6_ENST00000351948.4_Silent_p.T679T|SMC6_ENST00000381272.4_Silent_p.T705T|SMC6_ENST00000402989.1_Silent_p.T679T	p.T679T	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			19	2306	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		679					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Silent	SNP	ENST00000448223.2	37	c.2037G>A	CCDS1690.1																																																																																				0.313	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		9	32	0	0	0	1	0	9	32				
HMCES	56941	broad.mit.edu	37	3	129023473	129023473	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr3:129023473G>T	ENST00000383463.4	+	7	959	c.870G>T	c.(868-870)tgG>tgT	p.W290C	HMCES_ENST00000417226.2_Missense_Mutation_p.W248C|HMCES_ENST00000502878.2_Missense_Mutation_p.W290C|HMCES_ENST00000389735.3_Missense_Mutation_p.W290C	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	290							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										TGTTGCAGTGGTTGGCCACAA	0.488																																						ENST00000383463.4																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						c.(868-870)tgG>tgT									136.0	133.0	134.0					3																	129023473		2203	4300	6503	SO:0001583	missense	0							g.chr3:129023473G>T	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.870G>T	3.37:g.129023473G>T	ENSP00000372955:p.Trp290Cys					C3orf37_ENST00000502878.2_Missense_Mutation_p.W290C|C3orf37_ENST00000417226.2_Missense_Mutation_p.W248C|C3orf37_ENST00000389735.3_Missense_Mutation_p.W290C	p.W290C	NM_020187.2	NP_064572.2	Q96FZ2	CC037_HUMAN			7	959	+			290					A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	ENST00000383463.4	37	c.870G>T	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927154	0.52759	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000417226;ENST00000502878;ENST00000389735	.	.	.	4.02	4.02	0.46733	.	0.072512	0.64402	D	0.000012	T	0.70666	0.3250	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.69142	0.962;0.873	T	0.73244	-0.4044	9	0.72032	D	0.01	-16.0688	8.3053	0.32038	0.1124:0.0:0.8876:0.0	.	248;290	E7EMP6;Q96FZ2	.;CC037_HUMAN	C	242;290;248;290;290	.	ENSP00000372955:W290C	W	+	3	0	C3orf37	130506163	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.046000	0.41260	2.187000	0.69744	0.591000	0.81541	TGG		0.488	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187		45	85	1	0	3.4345e-17	1	3.62321e-17	45	85				
C12orf56	115749	broad.mit.edu	37	12	64746733	64746733	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:64746733G>C	ENST00000543942.2	-	2	982	c.356C>G	c.(355-357)tCa>tGa	p.S119*	C12orf56_ENST00000333722.5_Nonsense_Mutation_p.S119*|snoU13_ENST00000459220.1_RNA|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	119										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GACACTGTTTGACTTTTTACA	0.358																																						ENST00000543942.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15						c.(355-357)tCa>tGa		chromosome 12 open reading frame 56							115.0	109.0	111.0					12																	64746733		1832	4077	5909	SO:0001587	stop_gained	115749							g.chr12:64746733G>C		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.356C>G	12.37:g.64746733G>C	ENSP00000446101:p.Ser119*					C12orf56_ENST00000333722.5_Nonsense_Mutation_p.S119*|RPS11P6_ENST00000535684.1_RNA	p.S119*	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)	2	982	-			119						Nonsense_Mutation	SNP	ENST00000543942.2	37	c.356C>G		.	.	.	.	.	.	.	.	.	.	G	15.71	2.914533	0.52546	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716;ENST00000543259	.	.	.	4.27	2.37	0.29283	.	0.715135	0.11923	N	0.516457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.0E-4	4.5572	0.12141	0.1133:0.0:0.6662:0.2205	.	.	.	.	X	119;119;119;106	.	.	S	-	2	0	C12orf56	63033000	0.950000	0.32346	0.047000	0.18901	0.014000	0.08584	2.483000	0.45233	1.113000	0.41760	0.655000	0.94253	TCA		0.358	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	NM_001099676		9	255	0	0	0	1	0	9	255				
PTPRB	5787	broad.mit.edu	37	12	70933746	70933746	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:70933746G>C	ENST00000261266.5	-	22	5026	c.4997C>G	c.(4996-4998)tCt>tGt	p.S1666C	PTPRB_ENST00000550358.1_Missense_Mutation_p.S1796C|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1576C|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1576C|PTPRB_ENST00000334414.6_Missense_Mutation_p.S1884C|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1576C|RP11-588H23.3_ENST00000548687.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1666					angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TAAGTGGACAGATAATGGTCG	0.413																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(5650-5652)tCt>tGt		protein tyrosine phosphatase, receptor type, B							91.0	86.0	88.0					12																	70933746		1897	4110	6007	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70933746G>C	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4997C>G	12.37:g.70933746G>C	ENSP00000261266:p.Ser1666Cys					PTPRB_ENST00000451516.2_Missense_Mutation_p.S1576C|PTPRB_ENST00000261266.5_Missense_Mutation_p.S1666C|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1796C|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1576C|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1576C	p.S1884C	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		24	5695	-	Renal(347;0.236)		1666			Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.5651C>G	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043667	0.75732	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.03358	3.98;3.98;3.96;4.04;3.98;4.03	5.42	5.42	0.78866	.	0.352176	0.30859	N	0.008738	T	0.18045	0.0433	M	0.68593	2.085	0.47009	D	0.999287	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.74348	0.971;0.971;0.983;0.935;0.975	T	0.00070	-1.2135	10	0.87932	D	0	.	19.2265	0.93820	0.0:0.0:1.0:0.0	.	1576;1576;1884;1666;1796	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	C	1884;1576;1796;1576;1576;1666	ENSP00000334928:S1884C;ENSP00000393028:S1576C;ENSP00000448058:S1796C;ENSP00000438927:S1576C;ENSP00000447302:S1576C;ENSP00000261266:S1666C	ENSP00000261266:S1666C	S	-	2	0	PTPRB	69220013	1.000000	0.71417	0.944000	0.38274	0.963000	0.63663	6.950000	0.75977	2.552000	0.86080	0.462000	0.41574	TCT		0.413	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			4	160	0	0	0	1	0	4	160				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	26	0	0	0	1	0	5	26				
KRT5	3852	broad.mit.edu	37	12	52913802	52913802	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:52913802G>A	ENST00000252242.4	-	1	669	c.279C>T	c.(277-279)ggC>ggT	p.G93G		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	93	Gly-rich.|Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		agccatagccgcctccagcac	0.617																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(277-279)ggC>ggT		keratin 5							95.0	107.0	103.0					12																	52913802		2203	4300	6503	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913802G>A		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.279C>T	12.37:g.52913802G>A							p.G93G	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	669	-			93			Gly-rich.|Head.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.279C>T	CCDS8830.1																																																																																				0.617	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			4	121	0	0	0	1	0	4	121				
WDR7	23335	broad.mit.edu	37	18	54423954	54423954	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr18:54423954G>A	ENST00000254442.3	+	15	2341	c.2130G>A	c.(2128-2130)ccG>ccA	p.P710P	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.P710P	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	710					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CCTCTAGGCCGAATACTGCTC	0.433																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(2128-2130)ccG>ccA		WD repeat domain 7							76.0	79.0	78.0					18																	54423954		2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54423954G>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2130G>A	18.37:g.54423954G>A						WDR7_ENST00000357574.3_Silent_p.P710P|WDR7_ENST00000589935.1_Intron	p.P710P	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	15	2341	+			710					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.2130G>A	CCDS11962.1																																																																																				0.433	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			4	160	0	0	0	1	0	4	160				
RNF128	79589	broad.mit.edu	37	X	105937389	105937389	+	Missense_Mutation	SNP	G	G	A	rs146627932		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:105937389G>A	ENST00000324342.3	+	1	322	c.157G>A	c.(157-159)Gtt>Att	p.V53I		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	70					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TGAATGTGGCGTTTATGGATT	0.398																																						ENST00000324342.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(157-159)Gtt>Att		ring finger protein 128, E3 ubiquitin protein ligase		G	ILE/VAL	1,3834		0,1,1631,571	174.0	147.0	156.0		157	5.0	1.0	X	dbSNP_134	156	1,6727		0,1,2427,1872	yes	missense	RNF128	NM_024539.3	29	0,2,4058,2443	AA,AG,GG,G		0.0149,0.0261,0.0189		53/403	105937389	2,10561	2203	4300	6503	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105937389G>A	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.157G>A	X.37:g.105937389G>A	ENSP00000316127:p.Val53Ile						p.V53I	NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN			1	322	+			70					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000324342.3	37	c.157G>A	CCDS14520.1	.	.	.	.	.	.	.	.	.	.	G	8.999	0.979554	0.18812	2.61E-4	1.49E-4	ENSG00000133135	ENST00000418562;ENST00000324342	T;T	0.30981	1.51;2.91	6.02	4.99	0.66335	.	.	.	.	.	T	0.13200	0.0320	N	0.14661	0.345	0.80722	D	1	P	0.37370	0.592	B	0.27262	0.078	T	0.09618	-1.0666	9	0.17369	T	0.5	.	7.8295	0.29334	0.0971:0.2696:0.6333:0.0	.	53	Q8TEB7-2	.	I	26;53	ENSP00000412610:V26I;ENSP00000316127:V53I	ENSP00000316127:V53I	V	+	1	0	RNF128	105824045	0.956000	0.32656	1.000000	0.80357	0.978000	0.69477	1.486000	0.35530	2.550000	0.86006	0.594000	0.82650	GTT		0.398	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057805.1	NM_024539		12	117	0	0	0	1	0	12	117				
ARID2	196528	broad.mit.edu	37	12	46231286	46231286	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:46231286G>A	ENST00000334344.6	+	10	1298	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	ARID2_ENST00000422737.1_Missense_Mutation_p.E227K|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.E5K	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	376					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E376*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCAGGCATGGAAATTTTGGG	0.303			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		1	Substitution - Nonsense(1)	p.E376*(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(1126-1128)Gaa>Aaa		AT rich interactive domain 2 (ARID, RFX-like)							88.0	88.0	88.0					12																	46231286		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46231286G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1126G>A	12.37:g.46231286G>A	ENSP00000335044:p.Glu376Lys					ARID2_ENST00000444670.1_Missense_Mutation_p.E5K|ARID2_ENST00000422737.1_Missense_Mutation_p.E227K|ARID2_ENST00000479608.1_3'UTR	p.E376K	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	10	1298	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	376					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.1126G>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323296	0.81580	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T;T	0.49139	0.79;0.79	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.71151	0.3306	M	0.76838	2.35	0.80722	D	1	D;D;D	0.69078	0.996;0.991;0.997	D;D;D	0.77557	0.99;0.964;0.98	T	0.75045	-0.3456	10	0.87932	D	0	-13.8766	19.024	0.92925	0.0:0.0:1.0:0.0	.	376;227;376	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	K	376;227;5	ENSP00000335044:E376K;ENSP00000415650:E227K	ENSP00000335044:E376K	E	+	1	0	ARID2	44517553	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	9.869000	0.99810	2.486000	0.83907	0.313000	0.20887	GAA		0.303	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		4	69	0	0	0	1	0	4	69				
HOXA5	3202	broad.mit.edu	37	7	27181573	27181573	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27181573G>C	ENST00000222726.3	-	2	754	c.694C>G	c.(694-696)Ctt>Gtt	p.L232V	HOXA5_ENST00000520854.1_5'UTR|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	232					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GAGAGGCAAAGAGCATGTGCT	0.507											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(119;75 2200 7557 42868)	ENST00000222726.3																			0				central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						c.(694-696)Ctt>Gtt		homeobox A5							137.0	133.0	134.0					7																	27181573		2203	4300	6503	SO:0001583	missense	3202				negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27181573G>C		CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"""Homeoboxes / ANTP class : HOXL subclass"""	5106	protein-coding gene	gene with protein product		142952	"""homeo box A5"""	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.694C>G	7.37:g.27181573G>C	ENSP00000222726:p.Leu232Val		OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	792	HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA5_ENST00000520854.1_5'UTR	p.L232V	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN			2	754	-			232					A4D179|O43367|Q96CY6	Missense_Mutation	SNP	ENST00000222726.3	37	c.694C>G	CCDS5406.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432992	0.62844	.	.	ENSG00000106004	ENST00000222726	D	0.98120	-4.73	4.76	4.76	0.60689	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98839	0.9608	M	0.87682	2.9	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.99831	1.1054	10	0.87932	D	0	.	18.1224	0.89576	0.0:0.0:1.0:0.0	.	232	P20719	HXA5_HUMAN	V	232	ENSP00000222726:L232V	ENSP00000222726:L232V	L	-	1	0	HOXA5	27148098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.923000	0.87546	2.364000	0.80123	0.543000	0.68304	CTT		0.507	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358705.1			48	950	0	0	0	1	0	48	950				
KRTAP1-5	83895	broad.mit.edu	37	17	39183089	39183089	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr17:39183089C>T	ENST00000361883.5	-	1	365	c.319G>A	c.(319-321)Ggc>Agc	p.G107S		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	107	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			CCACTGCTGCCCTCCTGGCCA	0.637																																						ENST00000361883.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(319-321)Ggc>Agc		keratin associated protein 1-5							21.0	27.0	25.0					17																	39183089		2111	4245	6356	SO:0001583	missense	83895					keratin filament		g.chr17:39183089C>T	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.319G>A	17.37:g.39183089C>T	ENSP00000355302:p.Gly107Ser						p.G107S	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	365	-		Breast(137;0.00043)	107			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.319G>A	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	C	2.897	-0.228351	0.06022	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.45668	0.89	4.88	1.68	0.24146	.	.	.	.	.	T	0.19765	0.0475	N	0.16307	0.4	0.09310	N	1	B	0.17268	0.021	B	0.20767	0.031	T	0.32134	-0.9918	9	0.02654	T	1	.	4.7647	0.13127	0.1894:0.6243:0.0:0.1863	.	107	Q9BYS1	KRA15_HUMAN	S	107;97	ENSP00000355302:G107S	ENSP00000355302:G107S	G	-	1	0	KRTAP1-5	36436615	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	-0.011000	0.12721	0.277000	0.22141	0.561000	0.74099	GGC		0.637	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			11	34	0	0	0	1	0	11	34				
NAPSA	9476	broad.mit.edu	37	19	50864253	50864253	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:50864253C>T	ENST00000253719.2	-	5	821	c.613G>A	c.(613-615)Gta>Ata	p.V205I	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	205					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TCCACCAGTACATCCATCGGG	0.527																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(613-615)Gta>Ata		napsin A aspartic peptidase							75.0	70.0	72.0					19																	50864253		2203	4300	6503	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50864253C>T	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.613G>A	19.37:g.50864253C>T	ENSP00000253719:p.Val205Ile					NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.V205I	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	5	821	-		all_neural(266;0.057)	205					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.613G>A	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758256	0.31137	.	.	ENSG00000131400	ENST00000253719	T	0.57107	0.42	3.88	-4.78	0.03209	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	2.044320	0.02555	N	0.096086	T	0.34919	0.0914	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.28459	-1.0043	10	0.66056	D	0.02	.	3.8498	0.08949	0.2644:0.3703:0.0:0.3652	.	205	O96009	NAPSA_HUMAN	I	205	ENSP00000253719:V205I	ENSP00000253719:V205I	V	-	1	0	NAPSA	55556065	0.000000	0.05858	0.001000	0.08648	0.694000	0.40290	0.168000	0.16622	-0.708000	0.05015	0.491000	0.48974	GTA		0.527	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		27	68	0	0	0	1	0	27	68				
OGFRL1	79627	broad.mit.edu	37	6	72011297	72011297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:72011297C>T	ENST00000370435.4	+	7	1035	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	301						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						GCGGTTCGCCCAGAAACACTA	0.463																																						ENST00000370435.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						c.(901-903)Cag>Tag		opioid growth factor receptor-like 1							56.0	58.0	57.0					6																	72011297		2203	4300	6503	SO:0001587	stop_gained	79627					membrane	receptor activity	g.chr6:72011297C>T		CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.901C>T	6.37:g.72011297C>T	ENSP00000359464:p.Gln301*					RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA	p.Q301*	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN			7	1035	+			301					Q2TAC1|Q8NEQ4|Q9H7B5	Nonsense_Mutation	SNP	ENST00000370435.4	37	c.901C>T	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	C	34	5.411357	0.96072	.	.	ENSG00000119900	ENST00000370435	.	.	.	5.92	5.92	0.95590	.	0.117788	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-23.501	13.5041	0.61474	0.0:0.929:0.0:0.071	.	.	.	.	X	301	.	ENSP00000359464:Q301X	Q	+	1	0	OGFRL1	72068018	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	6.091000	0.71406	2.809000	0.96659	0.467000	0.42956	CAG		0.463	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	NM_024576		27	61	0	0	0	1	0	27	61				
CCBE1	147372	broad.mit.edu	37	18	57136832	57136832	+	Silent	SNP	G	G	A	rs369006324	byFrequency	TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr18:57136832G>A	ENST00000439986.4	-	4	310	c.273C>T	c.(271-273)gaC>gaT	p.D91D	CCBE1_ENST00000398179.2_De_novo_Start_InFrame	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	91					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CGGCACAAACGTCGTAATCTG	0.552													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21777	0.0		0.0	False		,,,				2504	0.0				NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	ENST00000398179.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24								collagen and calcium binding EGF domains 1		G		1,4405	2.1+/-5.4	0,1,2202	119.0	119.0	119.0		273	-8.6	0.0	18		119	0,8600		0,0,4300	no	coding-synonymous	CCBE1	NM_133459.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		91/407	57136832	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57136832G>A	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.273C>T	18.37:g.57136832G>A						CCBE1_ENST00000439986.4_Silent_p.D91D				Q6UXH8	CCBE1_HUMAN			0	62	-		Colorectal(73;0.175)						Q6MZX5|Q86SS2|Q8TF19	Translation_Start_Site	SNP	ENST00000439986.4	37		CCDS32838.1																																																																																				0.552	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		56	181	0	0	0	1	0	56	181				
F2RL1	2150	broad.mit.edu	37	5	76129250	76129250	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:76129250C>T	ENST00000296677.4	+	2	1024	c.818C>T	c.(817-819)gCc>gTc	p.A273V		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	273					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGATCTTCTGCCATGGATGAA	0.483																																						ENST00000296677.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(817-819)gCc>gTc		coagulation factor II (thrombin) receptor-like 1							156.0	151.0	153.0					5																	76129250		2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76129250C>T	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.818C>T	5.37:g.76129250C>T	ENSP00000296677:p.Ala273Val						p.A273V	NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	1024	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	273					Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.818C>T	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	C	9.123	1.009591	0.19277	.	.	ENSG00000164251	ENST00000296677	T	0.38722	1.12	5.44	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.420365	0.26535	N	0.023832	T	0.28499	0.0705	L	0.43923	1.385	0.09310	N	1	B	0.26902	0.163	B	0.23419	0.046	T	0.08229	-1.0732	9	.	.	.	-13.3749	3.3885	0.07281	0.2258:0.5803:0.0:0.1939	.	273	P55085	PAR2_HUMAN	V	273	ENSP00000296677:A273V	.	A	+	2	0	F2RL1	76165006	0.101000	0.21875	0.727000	0.30756	0.482000	0.33219	1.584000	0.36589	2.553000	0.86117	0.655000	0.94253	GCC		0.483	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			7	144	0	0	0	1	0	7	144				
MBD6	114785	broad.mit.edu	37	12	57919137	57919137	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:57919137G>A	ENST00000355673.3	+	6	742	c.386G>A	c.(385-387)gGa>gAa	p.G129E	MBD6_ENST00000431731.2_Missense_Mutation_p.G129E	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	129						chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GCAGGAGAGGGAGCGAGCCCC	0.557																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(385-387)gGa>gAa		methyl-CpG binding domain protein 6							28.0	33.0	31.0					12																	57919137		2203	4299	6502	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919137G>A	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.386G>A	12.37:g.57919137G>A	ENSP00000347896:p.Gly129Glu					MBD6_ENST00000431731.2_Missense_Mutation_p.G129E	p.G129E	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			6	742	+			129					Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.386G>A	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	g	11.71	1.720738	0.30503	.	.	ENSG00000166987	ENST00000548887;ENST00000355673;ENST00000549623;ENST00000431731	.	.	.	3.73	3.73	0.42828	.	0.000000	0.49305	D	0.000155	T	0.31263	0.0791	N	0.08118	0	0.39294	D	0.964793	B	0.20164	0.042	B	0.23419	0.046	T	0.17471	-1.0368	9	0.31617	T	0.26	-1.6939	11.4061	0.49898	0.0:0.0:1.0:0.0	.	129	Q96DN6	MBD6_HUMAN	E	129;129;33;129	.	ENSP00000347896:G129E	G	+	2	0	MBD6	56205404	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	5.403000	0.66338	2.381000	0.81170	0.544000	0.68410	GGA		0.557	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			9	864	0	0	0	1	0	9	864				
AZGP1P1	646282	broad.mit.edu	37	7	99580896	99580896	+	RNA	SNP	A	A	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:99580896A>T	ENST00000425474.1	+	0	217					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		AGGAAGGCTGAGCCCCTGGGA	0.572																																						ENST00000425474.1																			0																																																			0							g.chr7:99580896A>T	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99580896A>T								NR_036679.1						0	217	+									RNA	SNP	ENST00000425474.1	37																																																																																						0.572	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			7	11	0	0	0	1	0	7	11				
DPEP3	64180	broad.mit.edu	37	16	68014019	68014019	+	Missense_Mutation	SNP	G	G	A	rs376146876		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr16:68014019G>A	ENST00000268793.4	-	1	713	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	89					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GGGAAACTCCGCATCAGGGCC	0.652																																						ENST00000268793.4																			0				breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20						c.(340-342)Cgg>Tgg		dipeptidase 3		G	TRP/ARG,TRP/ARG	0,4396		0,0,2198	46.0	45.0	45.0		340,340	0.6	0.3	16		45	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DPEP3	NM_001129758.1,NM_022357.3	101,101	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	114/513,114/514	68014019	1,12995	2198	4300	6498	SO:0001583	missense	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68014019G>A	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.340C>T	16.37:g.68014019G>A	ENSP00000268793:p.Arg114Trp					DPEP3_ENST00000574342.1_5'UTR	p.R114W	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	1	713	-		Ovarian(137;0.192)	89					B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	c.340C>T	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900102	0.52227	0.0	1.16E-4	ENSG00000141096	ENST00000268793	T	0.23950	1.88	3.96	0.561	0.17285	.	1.076460	0.07198	N	0.856865	T	0.52386	0.1731	M	0.87456	2.885	0.23735	N	0.996987	D	0.76494	0.999	P	0.61658	0.892	T	0.44003	-0.9356	10	0.87932	D	0	.	10.9643	0.47403	0.0:0.0:0.5345:0.4655	.	89	Q9H4B8	DPEP3_HUMAN	W	114	ENSP00000268793:R114W	ENSP00000268793:R114W	R	-	1	2	DPEP3	66571520	0.735000	0.28153	0.289000	0.24876	0.007000	0.05969	0.666000	0.25097	0.109000	0.17891	-1.367000	0.01198	CGG		0.652	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		6	85	0	0	0	1	0	6	85				
JAZF1	221895	broad.mit.edu	37	7	27880436	27880436	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27880436C>G	ENST00000283928.5	-	4	601	c.436G>C	c.(436-438)Gag>Cag	p.E146Q	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	146					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						GTCCAGGACTCATCGCTGTCC	0.577			T	SUZ12	endometrial stromal tumours																																	ENST00000283928.5				Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(133)	0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(436-438)Gag>Cag		JAZF zinc finger 1							205.0	150.0	169.0					7																	27880436		2203	4300	6503	SO:0001583	missense	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:27880436C>G	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"""Zinc fingers, C2H2-type"""	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.436G>C	7.37:g.27880436C>G	ENSP00000283928:p.Glu146Gln					JAZF1_ENST00000466516.1_5'UTR|TAX1BP1_ENST00000488564.1_3'UTR	p.E146Q	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN			4	601	-			146					A4D195|Q8N3L7	Missense_Mutation	SNP	ENST00000283928.5	37	c.436G>C	CCDS5416.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.808463|4.808463	0.90707|0.90707	.|.	.|.	ENSG00000153814|ENSG00000153814	ENST00000283928;ENST00000430432;ENST00000447620|ENST00000427814	T|.	0.78707|.	-1.2|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70316|0.70316	0.3210|0.3210	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	D|.	0.61080|.	0.989|.	D|.	0.72982|.	0.979|.	T|T	0.63849|0.63849	-0.6544|-0.6544	10|5	0.37606|.	T|.	0.19|.	-24.9087|-24.9087	20.3789|20.3789	0.98926|0.98926	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	146|.	Q86VZ6|.	JAZF1_HUMAN|.	Q|I	146;113;122|132	ENSP00000283928:E146Q|.	ENSP00000283928:E146Q|.	E|M	-|-	1|3	0|0	JAZF1|JAZF1	27846961|27846961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	7.245000|7.245000	0.78237|0.78237	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	GAG|ATG		0.577	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		85	3462	0	0	0	1	0	85	3462				
FRK	2444	broad.mit.edu	37	6	116277768	116277768	+	Missense_Mutation	SNP	T	T	C	rs200172011		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:116277768T>C	ENST00000606080.1	-	5	1251	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	FRK_ENST00000538210.1_Missense_Mutation_p.M127V	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	TTTGGATCCATTGAACCTGAA	0.428																																						ENST00000606080.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(805-807)Atg>Gtg		fyn-related kinase							111.0	118.0	115.0					6																	116277768		2203	4300	6503	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116277768T>C	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.805A>G	6.37:g.116277768T>C	ENSP00000476145:p.Met269Val					FRK_ENST00000538210.1_Missense_Mutation_p.M127V	p.M269V	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	5	1251	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	269			Protein kinase.		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.805A>G	CCDS5103.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	21.2	4.106556	0.77096	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	D;D	0.82526	-1.62;-1.62	5.74	5.74	0.90152	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82421	0.5033	N	0.22421	0.69	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.86527	0.1819	10	0.87932	D	0	.	16.0351	0.80621	0.0:0.0:0.0:1.0	.	269	P42685	FRK_HUMAN	V	269;127	ENSP00000357615:M269V;ENSP00000443075:M127V	ENSP00000357615:M269V	M	-	1	0	FRK	116384461	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.186000	0.69663	0.533000	0.62120	ATG		0.428	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		36	46	0	0	0	1	0	36	46				
AMIGO1	57463	broad.mit.edu	37	1	110050353	110050353	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:110050353G>A	ENST00000369864.4	-	2	1531	c.1182C>T	c.(1180-1182)acC>acT	p.T394T	AMIGO1_ENST00000369862.1_Silent_p.T394T					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)		AGCGGCAAGGGGTGAGGTATA	0.547																																						ENST00000369864.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1180-1182)acC>acT		adhesion molecule with Ig-like domain 1							93.0	86.0	88.0					1																	110050353		2203	4300	6503	SO:0001819	synonymous_variant	57463				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane		g.chr1:110050353G>A		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.1182C>T	1.37:g.110050353G>A						AMIGO1_ENST00000369862.1_Silent_p.T394T	p.T394T			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	1531	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	394						Silent	SNP	ENST00000369864.4	37	c.1182C>T	CCDS30795.1																																																																																				0.547	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703		23	54	0	0	0	1	0	23	54				
SUV39H1	6839	broad.mit.edu	37	X	48559033	48559033	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:48559033G>C	ENST00000376687.3	+	3	907	c.717G>C	c.(715-717)aaG>aaC	p.K239N	AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000337852.6_Missense_Mutation_p.K250N|SUV39H1_ENST00000453214.2_Missense_Mutation_p.R87T	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	239	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TGGTACAGAAGGGTATCCGAT	0.607																																						ENST00000376687.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(715-717)aaG>aaC		suppressor of variegation 3-9 homolog 1 (Drosophila)							66.0	52.0	57.0					X																	48559033		2203	4300	6503	SO:0001583	missense	6839				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	g.chrX:48559033G>C	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.717G>C	X.37:g.48559033G>C	ENSP00000365877:p.Lys239Asn					SUV39H1_ENST00000337852.6_Missense_Mutation_p.K250N|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Missense_Mutation_p.R87T	p.K239N	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN			3	907	+			239			Pre-SET.		B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	ENST00000376687.3	37	c.717G>C	CCDS14304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.957|3.957	-0.011157|-0.011157	0.07727|0.07727	.|.	.|.	ENSG00000101945|ENSG00000101945	ENST00000337852;ENST00000376687;ENST00000422496|ENST00000448548;ENST00000453214	D;D|.	0.89810|.	-2.57;-2.57|.	5.06|5.06	1.23|1.23	0.21249|0.21249	Pre-SET domain (1);|.	0.115583|.	0.64402|.	D|.	0.000018|.	T|T	0.28764|0.28764	0.0713|0.0713	L|L	0.38175|0.38175	1.15|1.15	0.27299|0.27299	N|N	0.95763|0.95763	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.10450|.	0.005;0.005|.	T|T	0.31138|0.31138	-0.9954|-0.9954	10|6	0.26408|0.02654	T|T	0.33|1	.|.	10.7402|10.7402	0.46149|0.46149	0.3109:0.0:0.6891:0.0|0.3109:0.0:0.6891:0.0	.|.	250;239|.	B4DST0;O43463|.	.;SUV91_HUMAN|.	N|T	250;239;97|236;87	ENSP00000337976:K250N;ENSP00000365877:K239N|.	ENSP00000337976:K250N|ENSP00000410043:R236T	K|R	+|+	3|2	2|0	SUV39H1|SUV39H1	48443977|48443977	0.991000|0.991000	0.36638|0.36638	0.988000|0.988000	0.46212|0.46212	0.151000|0.151000	0.21798|0.21798	0.252000|0.252000	0.18278|0.18278	-0.477000|-0.477000	0.06832|0.06832	-1.978000|-1.978000	0.00458|0.00458	AAG|AGG		0.607	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		33	53	0	0	0	1	0	33	53				
TRAF2	7186	broad.mit.edu	37	9	139815644	139815644	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr9:139815644G>A	ENST00000247668.2	+	9	1167	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	TRAF2_ENST00000536468.1_Missense_Mutation_p.R372H|TRAF2_ENST00000359662.3_Missense_Mutation_p.R424H	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	372	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GTGGCTGGCCGCATACCCGCC	0.592																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1270-1272)cGc>cAc		TNF receptor-associated factor 2							58.0	55.0	56.0					9																	139815644		2203	4300	6503	SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139815644G>A	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.1115G>A	9.37:g.139815644G>A	ENSP00000247668:p.Arg372His					TRAF2_ENST00000536468.1_Missense_Mutation_p.R372H|TRAF2_ENST00000247668.2_Missense_Mutation_p.R372H	p.R424H			Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	9	1316	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	372			MATH.		A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.1271G>A	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.672923	0.67928	.	.	ENSG00000127191	ENST00000536468;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T	0.37915	1.47;1.47;1.17	4.23	4.23	0.50019	TRAF-type (1);TRAF-like (1);MATH (2);	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	L	0.59912	1.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.91635	0.999;0.999;0.828	T	0.58115	-0.7693	10	0.46703	T	0.11	-47.377	16.7645	0.85521	0.0:0.0:1.0:0.0	.	361;347;372	Q12933-3;Q12933-4;Q12933	.;.;TRAF2_HUMAN	H	372;371;372;424;293	ENSP00000446414:R372H;ENSP00000247668:R372H;ENSP00000352685:R424H	ENSP00000247668:R372H	R	+	2	0	TRAF2	138935465	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	9.108000	0.94275	2.162000	0.67917	0.491000	0.48974	CGC		0.592	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		4	96	0	0	0	1	0	4	96				
RGAG1	57529	broad.mit.edu	37	X	109698484	109698484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:109698484G>T	ENST00000465301.2	+	4	4348	c.4102G>T	c.(4102-4104)Gaa>Taa	p.E1368*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.E1368*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1368										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGACCCCCAAGAAGGTCTTCA	0.468																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(4102-4104)Gaa>Taa		retrotransposon gag domain containing 1							202.0	176.0	185.0					X																	109698484		2203	4300	6503	SO:0001587	stop_gained	57529							g.chrX:109698484G>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.4102G>T	X.37:g.109698484G>T	ENSP00000419786:p.Glu1368*					RGAG1_ENST00000540313.1_Nonsense_Mutation_p.E1368*	p.E1368*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			4	4348	+			1368					Q9P2M8	Nonsense_Mutation	SNP	ENST00000465301.2	37	c.4102G>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	39	7.817456	0.98507	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	.	.	.	4.54	2.77	0.32553	.	0.000000	0.41938	D	0.000794	.	.	.	.	.	.	0.44736	D	0.997735	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.7604	5.901	0.18965	0.237:0.0:0.763:0.0	.	.	.	.	X	1368;1368;929	.	.	E	+	1	0	RGAG1	109585140	0.977000	0.34250	0.160000	0.22671	0.769000	0.43574	1.601000	0.36773	0.635000	0.30488	0.600000	0.82982	GAA		0.468	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		23	183	1	0	2.32416e-17	1	2.4791e-17	23	183				
NPY	4852	broad.mit.edu	37	7	24329168	24329168	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:24329168G>A	ENST00000407573.1	+	4	529	c.239G>A	c.(238-240)aGa>aAa	p.R80K	NPY_ENST00000242152.2_Missense_Mutation_p.R80K|NPY_ENST00000405982.1_Missense_Mutation_p.R80K			P01303	NPY_HUMAN	neuropeptide Y	80					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CTCTTGATGAGAGAAAGCACA	0.443																																						ENST00000407573.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						c.(238-240)aGa>aAa		neuropeptide Y							122.0	114.0	117.0					7																	24329168		2203	4300	6503	SO:0001583	missense	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24329168G>A	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.239G>A	7.37:g.24329168G>A	ENSP00000384364:p.Arg80Lys					NPY_ENST00000405982.1_Missense_Mutation_p.R80K|NPY_ENST00000242152.2_Missense_Mutation_p.R80K	p.R80K			P01303	NPY_HUMAN			4	529	+			80						Missense_Mutation	SNP	ENST00000407573.1	37	c.239G>A	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	G	7.638	0.680238	0.14907	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.10960	2.82;2.82;2.82	5.78	3.93	0.45458	.	0.190994	0.56097	N	0.000028	T	0.04907	0.0132	.	.	.	0.32866	D	0.508554	B	0.09022	0.002	B	0.09377	0.004	T	0.18999	-1.0319	9	0.02654	T	1	-4.3107	13.2261	0.59914	0.1327:0.0:0.8673:0.0	.	80	P01303	NPY_HUMAN	K	80	ENSP00000242152:R80K;ENSP00000384364:R80K;ENSP00000385282:R80K	ENSP00000242152:R80K	R	+	2	0	NPY	24295693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.009000	0.49552	1.425000	0.47237	0.650000	0.86243	AGA		0.443	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		258	306	0	0	0	1	0	258	306				
ANXA9	8416	broad.mit.edu	37	1	150957082	150957082	+	Silent	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:150957082C>T	ENST00000368947.4	+	7	878	c.402C>T	c.(400-402)gaC>gaT	p.D134D		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	134					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGCTGTGGACGTGGCCATTG	0.542																																						ENST00000368947.4																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8						c.(400-402)gaC>gaT		annexin A9							59.0	56.0	57.0					1																	150957082		2203	4300	6503	SO:0001819	synonymous_variant	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150957082C>T	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.402C>T	1.37:g.150957082C>T							p.D134D	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	878	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		134					Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Silent	SNP	ENST00000368947.4	37	c.402C>T	CCDS975.2																																																																																				0.542	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568		7	24	0	0	0	1	0	7	24				
NNT	23530	broad.mit.edu	37	5	43613179	43613179	+	Silent	SNP	A	A	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:43613179A>G	ENST00000264663.5	+	3	542	c.321A>G	c.(319-321)agA>agG	p.R107R	NNT_ENST00000512996.2_5'UTR|NNT_ENST00000344920.4_Silent_p.R107R	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	107					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ATCACTATAGAGTGGCAGGTG	0.478																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(319-321)agA>agG		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						105.0	108.0	107.0					5																	43613179		2203	4300	6503	SO:0001819	synonymous_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43613179A>G	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.321A>G	5.37:g.43613179A>G						NNT_ENST00000344920.4_Silent_p.R107R|NNT_ENST00000512996.2_5'UTR	p.R107R	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			3	542	+	Lung NSC(6;2.58e-06)		107					Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	c.321A>G	CCDS3949.1																																																																																				0.478	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		67	80	0	0	0	1	0	67	80				
CATSPER4	378807	broad.mit.edu	37	1	26524839	26524839	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:26524839A>G	ENST00000456354.2	+	6	808	c.741A>G	c.(739-741)atA>atG	p.I247M		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	247					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGAACATACAGGTTGCGC	0.522																																						ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(739-741)atA>atG		cation channel, sperm associated 4							206.0	204.0	204.0					1																	26524839		2203	4300	6503	SO:0001583	missense	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524839A>G	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.741A>G	1.37:g.26524839A>G	ENSP00000390423:p.Ile247Met						p.I247M	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	6	808	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	247					A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	c.741A>G	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.344289	0.00222	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.98701	-5.08;-5.08	4.55	1.17	0.20885	Ion transport (1);	0.326841	0.26991	N	0.021462	D	0.94225	0.8146	L	0.29908	0.895	0.29066	N	0.883602	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.002	D	0.86613	0.1874	10	0.12766	T	0.61	-13.8925	4.4424	0.11580	0.2141:0.1844:0.6015:0.0	.	247;231	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	M	247	ENSP00000341006:I247M;ENSP00000390423:I247M	ENSP00000341006:I247M	I	+	3	3	CATSPER4	26397426	0.996000	0.38824	0.995000	0.50966	0.032000	0.12392	0.398000	0.20899	0.446000	0.26666	-0.621000	0.04028	ATA		0.522	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		4	269	0	0	0	1	0	4	269				
MBD6	114785	broad.mit.edu	37	12	57919681	57919681	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:57919681G>A	ENST00000355673.3	+	6	1286	c.930G>A	c.(928-930)gtG>gtA	p.V310V	MBD6_ENST00000431731.2_Silent_p.V310V	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	310	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCCCACGGTGGAGGGGCCTG	0.687																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(928-930)gtG>gtA		methyl-CpG binding domain protein 6							22.0	28.0	26.0					12																	57919681		2192	4286	6478	SO:0001819	synonymous_variant	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919681G>A	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.930G>A	12.37:g.57919681G>A						MBD6_ENST00000431731.2_Silent_p.V310V	p.V310V	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			6	1286	+			310			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Silent	SNP	ENST00000355673.3	37	c.930G>A	CCDS8944.1																																																																																				0.687	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			18	1104	0	0	0	1	0	18	1104				
KIAA0754	643314	broad.mit.edu	37	1	39876700	39876700	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:39876700T>C	ENST00000530275.1	+	1	550	c.355T>C	c.(355-357)Tca>Cca	p.S119P	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	119										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCCAGATTCTCAAGTGCAAC	0.512											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(355-357)Tca>Cca		KIAA0754							37.0	38.0	38.0					1																	39876700		1930	4138	6068	SO:0001583	missense	643314							g.chr1:39876700T>C			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.355T>C	1.37:g.39876700T>C	ENSP00000431179:p.Ser119Pro		OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron	p.S119P	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	550	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	119					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.355T>C		.	.	.	.	.	.	.	.	.	.	T	10.27	1.303176	0.23736	.	.	ENSG00000255103	ENST00000530275	T	0.42131	0.98	4.93	2.63	0.31362	.	.	.	.	.	T	0.28764	0.0713	L	0.27053	0.805	0.22240	N	0.99927	B	0.24043	0.096	B	0.22152	0.038	T	0.24941	-1.0146	9	0.87932	D	0	.	6.8119	0.23809	0.0:0.3407:0.0:0.6593	.	119	O94854	K0754_HUMAN	P	119	ENSP00000431179:S119P	ENSP00000431179:S119P	S	+	1	0	RP4-562N20.1	39649287	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.684000	0.37649	0.732000	0.32470	0.533000	0.62120	TCA		0.512	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		17	28	0	0	0	1	0	17	28				
CYP4V2	285440	broad.mit.edu	37	4	187118127	187118127	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr4:187118127G>T	ENST00000378802.4	+	4	751	c.447G>T	c.(445-447)atG>atT	p.M149I		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	149					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GGAGAAAGATGTTAACACCCA	0.323																																						ENST00000378802.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20						c.(445-447)atG>atT		cytochrome P450, family 4, subfamily V, polypeptide 2							76.0	81.0	79.0					4																	187118127		2203	4298	6501	SO:0001583	missense	285440				response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr4:187118127G>T	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.447G>T	4.37:g.187118127G>T	ENSP00000368079:p.Met149Ile						p.M149I	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)	4	751	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	149					B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	37	c.447G>T	CCDS34119.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630773	0.46944	.	.	ENSG00000145476	ENST00000378802;ENST00000274118	T	0.67523	-0.27	5.42	5.42	0.78866	.	0.071449	0.85682	D	0.000000	T	0.56247	0.1972	N	0.21324	0.655	0.80722	D	1	B	0.32526	0.374	B	0.37091	0.241	T	0.51252	-0.8729	10	0.10902	T	0.67	.	19.179	0.93615	0.0:0.0:1.0:0.0	.	149	Q6ZWL3	CP4V2_HUMAN	I	149;127	ENSP00000368079:M149I	ENSP00000274118:M127I	M	+	3	0	CYP4V2	187355121	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	6.253000	0.72453	2.698000	0.92095	0.655000	0.94253	ATG		0.323	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		5	43	1	0	0.0215528	1	0.0215528	5	43				
PTPRR	5801	broad.mit.edu	37	12	71094989	71094989	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:71094989G>A	ENST00000283228.2	-	7	1574	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A	PTPRR_ENST00000342084.4_Silent_p.A262A|PTPRR_ENST00000378778.1_Silent_p.A168A|PTPRR_ENST00000440835.2_Silent_p.A129A|PTPRR_ENST00000549308.1_Silent_p.A129A	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	374					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GAATTCGGCTGGCTGACTGCA	0.453																																						ENST00000283228.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(1120-1122)gcC>gcT		protein tyrosine phosphatase, receptor type, R							172.0	153.0	160.0					12																	71094989		2203	4300	6503	SO:0001819	synonymous_variant	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71094989G>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1122C>T	12.37:g.71094989G>A						PTPRR_ENST00000549308.1_Silent_p.A129A|PTPRR_ENST00000440835.2_Silent_p.A129A|PTPRR_ENST00000378778.1_Silent_p.A168A|PTPRR_ENST00000342084.4_Silent_p.A262A	p.A374A	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	7	1574	-			374					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	ENST00000283228.2	37	c.1122C>T	CCDS8998.1																																																																																				0.453	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		287	321	0	0	0	1	0	287	321				
UMODL1	89766	broad.mit.edu	37	21	43539224	43539224	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr21:43539224C>T	ENST00000408910.2	+	15	2479	c.2479C>T	c.(2479-2481)Cgg>Tgg	p.R827W	UMODL1_ENST00000408989.2_Missense_Mutation_p.R955W|UMODL1_ENST00000400424.2_Missense_Mutation_p.R755W|UMODL1_ENST00000400427.1_Missense_Mutation_p.R883W	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	827	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCGCAGGTGCGGGGCTCCCT	0.632																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(2647-2649)Cgg>Tgg		uromodulin-like 1							76.0	81.0	79.0					21																	43539224		2099	4228	6327	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43539224C>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.2479C>T	21.37:g.43539224C>T	ENSP00000386147:p.Arg827Trp					UMODL1_ENST00000408910.2_Missense_Mutation_p.R827W|UMODL1_ENST00000400424.1_Missense_Mutation_p.R755W|UMODL1_ENST00000408989.2_Missense_Mutation_p.R955W	p.R883W	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			14	3043	+			827			SEA 2.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.2647C>T	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	5.434	0.265275	0.10294	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	3.62	0.624	0.17659	SEA (1);	0.386077	0.19045	N	0.124193	T	0.22627	0.0546	N	0.20986	0.625	0.34240	D	0.677572	B;B	0.29270	0.119;0.24	B;B	0.28784	0.025;0.094	T	0.19549	-1.0302	9	.	.	.	-28.2281	5.7092	0.17925	0.3413:0.5634:0.0:0.0953	.	955;827	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	W	883;755;955;827	ENSP00000383279:R883W;ENSP00000383276:R755W;ENSP00000386126:R955W;ENSP00000386147:R827W	.	R	+	1	2	UMODL1	42412293	0.394000	0.25246	0.872000	0.34217	0.039000	0.13416	0.608000	0.24223	0.115000	0.18071	-0.657000	0.03884	CGG		0.632	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			35	137	0	0	0	1	0	35	137				
CPVL	54504	broad.mit.edu	37	7	29126137	29126137	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:29126137G>A	ENST00000409850.1	-	11	1218	c.572C>T	c.(571-573)cCt>cTt	p.P191L	AC007096.1_ENST00000411120.1_RNA|CPVL_ENST00000396276.3_Missense_Mutation_p.P191L|CPVL_ENST00000265394.5_Missense_Mutation_p.P191L			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	191						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TTTATATTCAGGAAATATCTG	0.338																																						ENST00000409850.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(571-573)cCt>cTt		carboxypeptidase, vitellogenic-like							72.0	77.0	75.0					7																	29126137		2203	4298	6501	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29126137G>A	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.572C>T	7.37:g.29126137G>A	ENSP00000387164:p.Pro191Leu					CPVL_ENST00000265394.5_Missense_Mutation_p.P191L|CPVL_ENST00000396276.3_Missense_Mutation_p.P191L	p.P191L			Q9H3G5	CPVL_HUMAN			11	1218	-			191					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.572C>T	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805880	0.50421	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995;ENST00000448959;ENST00000458405;ENST00000447426	D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79;-2.79	5.8	5.8	0.92144	.	0.162786	0.53938	D	0.000047	D	0.96580	0.8884	H	0.98155	4.16	0.80722	D	1	D	0.53312	0.959	P	0.57720	0.826	D	0.97493	1.0055	10	0.87932	D	0	-0.0305	14.2495	0.66011	0.0729:0.0:0.9271:0.0	.	191	Q9H3G5	CPVL_HUMAN	L	191;191;191;75;121;75;121	ENSP00000265394:P191L;ENSP00000379572:P191L;ENSP00000387164:P191L;ENSP00000409036:P121L;ENSP00000417015:P75L;ENSP00000395690:P121L	ENSP00000265394:P191L	P	-	2	0	CPVL	29092662	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	4.047000	0.57383	2.748000	0.94277	0.655000	0.94253	CCT		0.338	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		12	479	0	0	0	1	0	12	479				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		3	55	0	0	0	1	0	3	55				
AZIN2	113451	broad.mit.edu	37	1	33585652	33585652	+	Silent	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:33585652C>T	ENST00000294517.6	+	12	1839	c.1252C>T	c.(1252-1254)Ctg>Ttg	p.L418L	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Silent_p.L438L|ADC_ENST00000373441.1_Silent_p.L438L|ADC_ENST00000373443.3_Silent_p.L418L	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		418					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	TAGGGAAGCGCTGCGAAGGCA	0.637																																						ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1252-1254)Ctg>Ttg		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)						80.0	62.0	68.0					1																	33585652		2203	4300	6503	SO:0001819	synonymous_variant	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33585652C>T																												ENST00000294517.6:c.1252C>T	1.37:g.33585652C>T						ADC_ENST00000373443.3_Silent_p.L418L|ADC_ENST00000398167.1_Silent_p.L438L|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Silent_p.L438L	p.L418L	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN			12	1839	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	418					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Silent	SNP	ENST00000294517.6	37	c.1252C>T	CCDS375.1																																																																																				0.637	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			24	44	0	0	0	1	0	24	44				
ACTA1	58	broad.mit.edu	37	1	229568328	229568328	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:229568328G>A	ENST00000366684.3	-	3	531	c.429C>T	c.(427-429)tcC>tcT	p.S143S	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	143					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.S143S(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				AGGCGTAGAGGGACAGCACGG	0.701																																						ENST00000366684.3																			1	Substitution - coding silent(1)	p.S143S(1)	lung(1)	endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(427-429)tcC>tcT		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						48.0	49.0	49.0					1																	229568328		2203	4300	6503	SO:0001819	synonymous_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568328G>A	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.429C>T	1.37:g.229568328G>A						ACTA1_ENST00000366683.2_Intron	p.S143S	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			3	531	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	143					P02568|P99020|Q5T8M9	Silent	SNP	ENST00000366684.3	37	c.429C>T	CCDS1578.1																																																																																				0.701	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		4	105	0	0	0	1	0	4	105				
ITPR1	3708	broad.mit.edu	37	3	4725193	4725193	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr3:4725193G>A	ENST00000443694.2	+	24	3240	c.3240G>A	c.(3238-3240)cgG>cgA	p.R1080R	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Silent_p.R1071R|ITPR1_ENST00000423119.2_Silent_p.R1086R|ITPR1_ENST00000354582.6_Silent_p.R1095R|ITPR1_ENST00000357086.4_Silent_p.R1086R|ITPR1_ENST00000302640.8_Silent_p.R1080R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1095					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TCCTCTTCCGGCACTTCAGCC	0.587																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(3283-3285)cgG>cgA		inositol 1,4,5-trisphosphate receptor, type 1							80.0	80.0	80.0					3																	4725193		2012	4177	6189	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4725193G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3240G>A	3.37:g.4725193G>A						ITPR1_ENST00000357086.4_Silent_p.R1086R|ITPR1_ENST00000423119.2_Silent_p.R1086R|ITPR1_ENST00000302640.8_Silent_p.R1080R|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Silent_p.R1071R|ITPR1_ENST00000443694.2_Silent_p.R1080R	p.R1095R			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	27	3635	+			1095					E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.3285G>A	CCDS54551.1																																																																																				0.587	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		4	115	0	0	0	1	0	4	115				
EGFR	1956	broad.mit.edu	37	7	55223582	55223582	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:55223582G>A	ENST00000275493.2	+	8	1126	c.949G>A	c.(949-951)Gag>Aag	p.E317K	EGFR_ENST00000344576.2_Missense_Mutation_p.E317K|EGFR_ENST00000454757.2_Missense_Mutation_p.E264K|EGFR_ENST00000342916.3_Missense_Mutation_p.E317K|EGFR_ENST00000420316.2_Missense_Mutation_p.E317K|EGFR_ENST00000455089.1_Missense_Mutation_p.E272K|EGFR_ENST00000442591.1_Missense_Mutation_p.E317K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	317					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CGACAGCTATGAGATGGAGGA	0.597		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(949-951)Gag>Aag		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						53.0	49.0	50.0					7																	55223582		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55223582G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.949G>A	7.37:g.55223582G>A	ENSP00000275493:p.Glu317Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Missense_Mutation_p.E317K|EGFR_ENST00000454757.2_Missense_Mutation_p.E264K|EGFR_ENST00000420316.2_Missense_Mutation_p.E317K|EGFR_ENST00000342916.3_Missense_Mutation_p.E317K|EGFR_ENST00000455089.1_Missense_Mutation_p.E272K|EGFR_ENST00000344576.2_Missense_Mutation_p.E317K	p.E317K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		8	1126	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		317					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.949G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691959	0.88735	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.64	5.64	0.86602	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.92831	0.7720	M	0.80746	2.51	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.999;1.0;0.999;0.993	P;D;D;D;P	0.91635	0.885;0.972;0.999;0.953;0.606	D	0.93358	0.6724	10	0.87932	D	0	.	18.2675	0.90056	0.0:0.0:1.0:0.0	.	272;317;317;317;317	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	K	272;317;187;317;317;317;317;264;111	ENSP00000415559:E272K;ENSP00000342376:E317K;ENSP00000345973:E317K;ENSP00000413843:E317K;ENSP00000275493:E317K;ENSP00000410031:E317K;ENSP00000395243:E264K	ENSP00000275493:E317K	E	+	1	0	EGFR	55191076	1.000000	0.71417	0.979000	0.43373	0.150000	0.21749	9.838000	0.99474	2.655000	0.90218	0.655000	0.94253	GAG		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		79	1220	0	0	0	1	0	79	1220				
CUL9	23113	broad.mit.edu	37	6	43171720	43171720	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:43171720C>G	ENST00000252050.4	+	20	4238	c.4154C>G	c.(4153-4155)tCt>tGt	p.S1385C	CUL9_ENST00000372647.2_Missense_Mutation_p.S1385C|CUL9_ENST00000354495.3_Missense_Mutation_p.S1275C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1385					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AACATCACCTCTCCCGGTAAC	0.567																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(4153-4155)tCt>tGt		cullin 9							57.0	60.0	59.0					6																	43171720		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43171720C>G	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4154C>G	6.37:g.43171720C>G	ENSP00000252050:p.Ser1385Cys					CUL9_ENST00000354495.3_Missense_Mutation_p.S1275C|CUL9_ENST00000372647.2_Missense_Mutation_p.S1385C	p.S1385C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			20	4238	+			1385					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.4154C>G	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968133	0.34754	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74947	-0.89;-0.89;-0.78	5.88	0.692	0.18050	.	1.173640	0.05880	N	0.626206	T	0.52484	0.1737	L	0.40543	1.245	0.09310	N	1	B;B;B	0.20368	0.044;0.003;0.003	B;B;B	0.22880	0.042;0.021;0.021	T	0.56697	-0.7936	10	0.66056	D	0.02	-8.7272	14.4505	0.67382	0.0:0.4187:0.5192:0.0622	.	1275;1385;1385	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	C	1385;1275;1385	ENSP00000252050:S1385C;ENSP00000346490:S1275C;ENSP00000361730:S1385C	ENSP00000252050:S1385C	S	+	2	0	CUL9	43279698	0.010000	0.17322	0.965000	0.40720	0.956000	0.61745	1.056000	0.30480	0.085000	0.17107	0.655000	0.94253	TCT		0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		29	57	0	0	0	1	0	29	57				
MDM1	56890	broad.mit.edu	37	12	68696580	68696580	+	Missense_Mutation	SNP	G	G	A	rs200599940		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:68696580G>A	ENST00000303145.7	-	12	1878	c.1792C>T	c.(1792-1794)Cgg>Tgg	p.R598W	MDM1_ENST00000540418.1_Missense_Mutation_p.R318W|MDM1_ENST00000411698.2_Missense_Mutation_p.R563W	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	598					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GAATCTTCCCGCAAAGGCAGA	0.388																																						ENST00000303145.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33						c.(1792-1794)Cgg>Tgg		Mdm1 nuclear protein homolog (mouse)		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	104.0	107.0	106.0		1687,1792	3.8	1.0	12		106	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MDM1	NM_001205028.1,NM_017440.4	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	563/680,598/715	68696580	1,13005	2203	4300	6503	SO:0001583	missense	56890					nucleus		g.chr12:68696580G>A	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1792C>T	12.37:g.68696580G>A	ENSP00000302537:p.Arg598Trp					MDM1_ENST00000540418.1_Missense_Mutation_p.R318W|MDM1_ENST00000411698.2_Missense_Mutation_p.R563W	p.R598W	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	12	1878	-			598					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	c.1792C>T	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716415	0.68844	0.0	1.16E-4	ENSG00000111554	ENST00000540418;ENST00000303145;ENST00000539972;ENST00000411698	T;T;T	0.31769	1.48;1.77;1.77	4.78	3.77	0.43336	.	0.054399	0.64402	D	0.000003	T	0.50871	0.1641	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.50145	-0.8862	9	.	.	.	-14.9421	6.765	0.23562	0.0:0.1037:0.2727:0.6236	.	563;598	E7EPQ3;Q8TC05	.;MDM1_HUMAN	W	318;598;25;563	ENSP00000443815:R318W;ENSP00000302537:R598W;ENSP00000391006:R563W	.	R	-	1	2	MDM1	66982847	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	1.653000	0.37323	1.149000	0.42402	0.555000	0.69702	CGG		0.388	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		6	599	0	0	0	1	0	6	599				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	0							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	115	0	0	0	1	0	4	115				
JAZF1	221895	broad.mit.edu	37	7	27880445	27880445	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27880445C>T	ENST00000283928.5	-	4	592	c.427G>A	c.(427-429)Gac>Aac	p.D143N	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	143					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						TCATCGCTGTCCGACTCCTCA	0.577			T	SUZ12	endometrial stromal tumours																																	ENST00000283928.5				Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(133)	0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(427-429)Gac>Aac		JAZF zinc finger 1							194.0	143.0	160.0					7																	27880445		2203	4300	6503	SO:0001583	missense	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:27880445C>T	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"""Zinc fingers, C2H2-type"""	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.427G>A	7.37:g.27880445C>T	ENSP00000283928:p.Asp143Asn					JAZF1_ENST00000466516.1_5'UTR|TAX1BP1_ENST00000488564.1_3'UTR	p.D143N	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN			4	592	-			143					A4D195|Q8N3L7	Missense_Mutation	SNP	ENST00000283928.5	37	c.427G>A	CCDS5416.1	.	.	.	.	.	.	.	.	.	.	C	33	5.255016	0.95336	.	.	ENSG00000153814	ENST00000283928;ENST00000430432;ENST00000447620	D	0.81739	-1.53	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.89431	0.6713	M	0.66297	2.02	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	D	0.88757	0.3254	10	0.59425	D	0.04	-21.007	20.3789	0.98926	0.0:1.0:0.0:0.0	.	143	Q86VZ6	JAZF1_HUMAN	N	143;110;119	ENSP00000283928:D143N	ENSP00000283928:D143N	D	-	1	0	JAZF1	27846970	1.000000	0.71417	0.989000	0.46669	0.836000	0.47400	7.245000	0.78237	2.826000	0.97356	0.563000	0.77884	GAC		0.577	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		78	3304	0	0	0	1	0	78	3304				
CACNA1E	777	broad.mit.edu	37	1	181745306	181745306	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:181745306G>A	ENST00000367573.2	+	38	5209	c.5209G>A	c.(5209-5211)Ggg>Agg	p.G1737R	CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1688R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1344R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1669R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1718R|CACNA1E_ENST00000526775.1_Missense_Mutation_p.G1718R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1737R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1737					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						CTCCATCCTGGGGCCTCACCA	0.602																																						ENST00000526775.1																			0				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						c.(5152-5154)Ggg>Agg		calcium channel, voltage-dependent, R type, alpha 1E subunit							154.0	156.0	156.0					1																	181745306		1992	4190	6182	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181745306G>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.5209G>A	1.37:g.181745306G>A	ENSP00000356545:p.Gly1737Arg					CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1737R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1737R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1688R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1718R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1344R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1669R	p.G1718R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			37	5317	+			1737					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5152G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	36	5.772215	0.96922	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96774	-4.02;-4.02;-4.12;-4.02;-4.1;-4.11;-4.11	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	M	0.94021	3.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99305	1.0902	10	0.87932	D	0	.	19.7135	0.96105	0.0:0.0:1.0:0.0	.	1718;1737;1737	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	R	1737;1718;1688;1669;1344;1718;1737	ENSP00000356542:G1737R;ENSP00000434814:G1718R;ENSP00000350183:G1688R;ENSP00000351101:G1669R;ENSP00000356539:G1344R;ENSP00000353222:G1718R;ENSP00000356545:G1737R	ENSP00000350183:G1688R	G	+	1	0	CACNA1E	180011929	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.731000	0.98807	2.769000	0.95229	0.655000	0.94253	GGG		0.602	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		80	123	0	0	0	1	0	80	123				
GNAO1	2775	broad.mit.edu	37	16	56377821	56377821	+	Intron	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr16:56377821G>A	ENST00000262493.6	+	6	1569				GNAO1_ENST00000262494.7_Missense_Mutation_p.V342I	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TGTGACGGACGTCATCATCGC	0.622																																						ENST00000262494.7																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(1024-1026)Gtc>Atc		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O							165.0	114.0	131.0					16																	56377821		2198	4300	6498	SO:0001627	intron_variant	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56377821G>A		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.723+7049G>A	16.37:g.56377821G>A						GNAO1_ENST00000262493.6_Intron	p.V342I	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN			8	1284	+		all_neural(199;0.159)	342					P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	c.1024G>A	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761600	0.49468	.	.	ENSG00000087258	ENST00000262494	D	0.87887	-2.31	4.58	4.58	0.56647	.	.	.	.	.	T	0.74076	0.3669	N	0.05259	-0.085	0.38401	D	0.94567	B	0.06786	0.001	B	0.09377	0.004	T	0.69774	-0.5054	9	0.11794	T	0.64	.	17.7684	0.88485	0.0:0.0:1.0:0.0	.	342	P09471-2	.	I	342	ENSP00000262494:V342I	ENSP00000262494:V342I	V	+	1	0	GNAO1	54935322	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.893000	0.87330	2.278000	0.76064	0.561000	0.74099	GTC		0.622	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		22	59	0	0	0	1	0	22	59				
OPRD1	4985	broad.mit.edu	37	1	29189572	29189572	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:29189572C>T	ENST00000234961.2	+	3	1138	c.896C>T	c.(895-897)gCg>gTg	p.A299V		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	299					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GTGGTGGCTGCGCTGCACCTG	0.642																																						ENST00000234961.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(895-897)gCg>gTg		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)						27.0	24.0	25.0					1																	29189572		2202	4299	6501	SO:0001583	missense	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29189572C>T	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.896C>T	1.37:g.29189572C>T	ENSP00000234961:p.Ala299Val						p.A299V	NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	3	1138	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	299					B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	c.896C>T	CCDS329.1	.	.	.	.	.	.	.	.	.	.	C	8.212	0.800455	0.16397	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.37058	1.22	4.06	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.404404	0.26217	N	0.025651	T	0.18215	0.0437	N	0.17723	0.515	0.41655	D	0.989151	B	0.17852	0.024	B	0.17722	0.019	T	0.08249	-1.0731	10	0.02654	T	1	.	9.5865	0.39519	0.0:0.6495:0.3505:0.0	.	299	P41143	OPRD_HUMAN	V	299;251	ENSP00000234961:A299V	ENSP00000234961:A299V	A	+	2	0	OPRD1	29062159	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.580000	0.60942	2.097000	0.63578	0.462000	0.41574	GCG		0.642	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		11	18	0	0	0	1	0	11	18				
ZNF385B	151126	broad.mit.edu	37	2	180634461	180634461	+	Missense_Mutation	SNP	G	G	A	rs146268620		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:180634461G>A	ENST00000410066.1	-	3	625	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	8	Required for induction of apoptosis.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TCAAAGCCCCGTAGAAAATTT	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18186	0.0		0.0	False		,,,				2504	0.0				Colon(155;204 2491 32774 51842)	ENST00000410066.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(22-24)Cgg>Tgg		zinc finger protein 385B		G	TRP/ARG	0,4406		0,0,2203	58.0	62.0	61.0		22	2.5	1.0	2	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF385B	NM_152520.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	8/472	180634461	1,13005	2203	4300	6503	SO:0001583	missense	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180634461G>A	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.22C>T	2.37:g.180634461G>A	ENSP00000386845:p.Arg8Trp						p.R8W	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		3	625	-			8					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	c.22C>T	CCDS33339.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.66	1.705707	0.30232	0.0	1.16E-4	ENSG00000144331	ENST00000410066;ENST00000451732;ENST00000438871	T	0.35605	1.3	5.38	2.46	0.29980	.	0.134456	0.33309	N	0.005058	T	0.28632	0.0709	L	0.27053	0.805	0.80722	D	1	D	0.65815	0.995	P	0.47044	0.535	T	0.05194	-1.0900	10	0.87932	D	0	-2.3829	8.8312	0.35085	0.0705:0.0:0.6653:0.2642	.	8	Q569K4	Z385B_HUMAN	W	8	ENSP00000386845:R8W	ENSP00000386845:R8W	R	-	1	2	ZNF385B	180342706	0.300000	0.24435	1.000000	0.80357	0.997000	0.91878	0.607000	0.24209	0.640000	0.30582	0.561000	0.74099	CGG		0.413	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		20	51	0	0	0	1	0	20	51				
BTBD2	55643	broad.mit.edu	37	19	1987539	1987539	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:1987539C>T	ENST00000255608.4	-	6	1157	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	381						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCGACTCTCCACCTGCTGG	0.667																																						ENST00000255608.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12						c.(1141-1143)Gag>Aag		BTB (POZ) domain containing 2							40.0	34.0	36.0					19																	1987539		2200	4299	6499	SO:0001583	missense	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1987539C>T	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1141G>A	19.37:g.1987539C>T	ENSP00000255608:p.Glu381Lys						p.E381K	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1157	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	381					O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	37	c.1141G>A	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	c	29.2	4.985476	0.93044	.	.	ENSG00000133243	ENST00000255608	T	0.15372	2.43	4.15	4.15	0.48705	PHR (1);	0.101356	0.64402	D	0.000003	T	0.29158	0.0725	M	0.62723	1.935	0.80722	D	1	P	0.49185	0.92	P	0.51229	0.663	T	0.03608	-1.1020	10	0.40728	T	0.16	-24.3122	15.5867	0.76489	0.0:1.0:0.0:0.0	.	381	Q9BX70	BTBD2_HUMAN	K	381	ENSP00000255608:E381K	ENSP00000255608:E381K	E	-	1	0	BTBD2	1938539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.338000	0.79269	2.129000	0.65627	0.556000	0.70494	GAG		0.667	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			6	18	0	0	0	1	0	6	18				
DSG1	1828	broad.mit.edu	37	18	28923927	28923927	+	Silent	SNP	C	C	T	rs548157114|rs398122400		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr18:28923927C>T	ENST00000257192.4	+	13	2072	c.1860C>T	c.(1858-1860)aaC>aaT	p.N620N	RP11-534N16.1_ENST00000578119.1_RNA|RNU6-167P_ENST00000384292.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_5'UTR	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	620					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CACCTGATAACGCAAATATAA	0.323													C|||	1	0.000199681	0.0	0.0	5008	,	,		15993	0.001		0.0	False		,,,				2504	0.0					ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(1858-1860)aaC>aaT		desmoglein 1							122.0	112.0	115.0					18																	28923927		2203	4297	6500	SO:0001819	synonymous_variant	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28923927C>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1860C>T	18.37:g.28923927C>T						RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_5'UTR	p.N620N	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		13	2072	+			620					B7Z845	Silent	SNP	ENST00000257192.4	37	c.1860C>T	CCDS11896.1																																																																																				0.323	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		7	38	0	0	0	1	0	7	38				
JAZF1	221895	broad.mit.edu	37	7	27880439	27880439	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27880439C>T	ENST00000283928.5	-	4	598	c.433G>A	c.(433-435)Gat>Aat	p.D145N	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	145					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CAGGACTCATCGCTGTCCGAC	0.577			T	SUZ12	endometrial stromal tumours																																	ENST00000283928.5				Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(133)	0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(433-435)Gat>Aat		JAZF zinc finger 1							204.0	150.0	168.0					7																	27880439		2203	4300	6503	SO:0001583	missense	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:27880439C>T	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"""Zinc fingers, C2H2-type"""	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.433G>A	7.37:g.27880439C>T	ENSP00000283928:p.Asp145Asn					JAZF1_ENST00000466516.1_5'UTR|TAX1BP1_ENST00000488564.1_3'UTR	p.D145N	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN			4	598	-			145					A4D195|Q8N3L7	Missense_Mutation	SNP	ENST00000283928.5	37	c.433G>A	CCDS5416.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719083	0.68844	.	.	ENSG00000153814	ENST00000283928;ENST00000430432;ENST00000447620	T	0.77877	-1.13	5.95	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.78175	0.4242	N	0.25286	0.73	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.72984	-0.4125	10	0.08837	T	0.75	-21.2153	15.1317	0.72530	0.0:0.9325:0.0:0.0675	.	145	Q86VZ6	JAZF1_HUMAN	N	145;112;121	ENSP00000283928:D145N	ENSP00000283928:D145N	D	-	1	0	JAZF1	27846964	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.245000	0.78237	1.536000	0.49237	-0.251000	0.11542	GAT		0.577	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		85	3424	0	0	0	1	0	85	3424				
EGFR	1956	broad.mit.edu	37	7	55223594	55223594	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:55223594G>T	ENST00000275493.2	+	8	1138	c.961G>T	c.(961-963)Gac>Tac	p.D321Y	EGFR_ENST00000344576.2_Missense_Mutation_p.D321Y|EGFR_ENST00000454757.2_Missense_Mutation_p.D268Y|EGFR_ENST00000342916.3_Missense_Mutation_p.D321Y|EGFR_ENST00000420316.2_Missense_Mutation_p.D321Y|EGFR_ENST00000455089.1_Missense_Mutation_p.D276Y|EGFR_ENST00000442591.1_Missense_Mutation_p.D321Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	321					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GATGGAGGAAGACGGCGTCCG	0.602		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(961-963)Gac>Tac		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						51.0	47.0	49.0					7																	55223594		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55223594G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.961G>T	7.37:g.55223594G>T	ENSP00000275493:p.Asp321Tyr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Missense_Mutation_p.D321Y|EGFR_ENST00000454757.2_Missense_Mutation_p.D268Y|EGFR_ENST00000420316.2_Missense_Mutation_p.D321Y|EGFR_ENST00000342916.3_Missense_Mutation_p.D321Y|EGFR_ENST00000455089.1_Missense_Mutation_p.D276Y|EGFR_ENST00000344576.2_Missense_Mutation_p.D321Y	p.D321Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		8	1138	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		321					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.961G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585499	0.46110	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.64	5.64	0.86602	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.142969	0.64402	D	0.000006	D	0.89291	0.6673	L	0.61218	1.895	0.41265	D	0.986804	D;D;D;D;P	0.76494	0.962;0.979;0.999;0.996;0.923	P;P;D;D;P	0.67231	0.746;0.893;0.95;0.915;0.568	D	0.89634	0.3857	10	0.87932	D	0	.	8.7977	0.34890	0.1587:0.0:0.8413:0.0	.	276;321;321;321;321	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	Y	276;321;191;321;321;321;321;268;115	ENSP00000415559:D276Y;ENSP00000342376:D321Y;ENSP00000345973:D321Y;ENSP00000413843:D321Y;ENSP00000275493:D321Y;ENSP00000410031:D321Y;ENSP00000395243:D268Y	ENSP00000275493:D321Y	D	+	1	0	EGFR	55191088	1.000000	0.71417	0.512000	0.27736	0.069000	0.16628	4.247000	0.58750	2.655000	0.90218	0.655000	0.94253	GAC		0.602	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		76	1007	1	0	2.23044e-30	1	2.4332e-30	76	1007				
PTN	5764	broad.mit.edu	37	7	136938315	136938315	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:136938315C>T	ENST00000348225.2	-	3	612	c.185G>A	c.(184-186)tGt>tAt	p.C62Y	PTN_ENST00000393083.2_Missense_Mutation_p.C62Y	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	62					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						GCCCAGCCCACAGTCTCCACT	0.498																																						ENST00000348225.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(184-186)tGt>tAt		pleiotrophin							95.0	81.0	86.0					7																	136938315		2203	4300	6503	SO:0001583	missense	5764				nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	g.chr7:136938315C>T	M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.185G>A	7.37:g.136938315C>T	ENSP00000341170:p.Cys62Tyr					PTN_ENST00000393083.2_Missense_Mutation_p.C62Y	p.C62Y	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN			3	612	-			62					Q5U0B0|Q6ICQ5|Q9UCC6	Missense_Mutation	SNP	ENST00000348225.2	37	c.185G>A	CCDS5844.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672320	0.88348	.	.	ENSG00000105894	ENST00000348225;ENST00000393083	.	.	.	5.65	5.65	0.86999	Midkine heparin-binding growth factor, N-terminal (3);Midkine heparin-binding growth factor, conserved site (1);Midkine heparin-binding growth factor, disulphide-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.79358	0.4432	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.80402	-0.1397	9	0.87932	D	0	-8.7821	19.733	0.96192	0.0:1.0:0.0:0.0	.	62;62	C9JR52;P21246	.;PTN_HUMAN	Y	62	.	ENSP00000341170:C62Y	C	-	2	0	PTN	136588855	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	7.613000	0.82986	2.665000	0.90641	0.585000	0.79938	TGT		0.498	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825		26	50	0	0	0	1	0	26	50				
PLEKHG4B	153478	broad.mit.edu	37	5	161988	161988	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:161988G>A	ENST00000283426.6	+	10	1560	c.1510G>A	c.(1510-1512)Gtg>Atg	p.V504M		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	504							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCTGAGCGCCGTGGTCAGCCA	0.617																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(1510-1512)Gtg>Atg		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							86.0	76.0	80.0					5																	161988		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:161988G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1510G>A	5.37:g.161988G>A	ENSP00000283426:p.Val504Met						p.V504M	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	10	1560	+			504						Missense_Mutation	SNP	ENST00000283426.6	37	c.1510G>A	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	2.946	-0.217710	0.06101	.	.	ENSG00000153404	ENST00000283426	D	0.93247	-3.19	2.49	-4.98	0.03019	.	.	.	.	.	T	0.77123	0.4084	N	0.02011	-0.69	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.65837	-0.6071	9	0.30078	T	0.28	.	5.3603	0.16083	0.65:0.165:0.185:0.0	.	504	Q96PX9	PKH4B_HUMAN	M	504	ENSP00000283426:V504M	ENSP00000283426:V504M	V	+	1	0	PLEKHG4B	214988	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.320000	0.08028	-1.664000	0.01479	-0.460000	0.05396	GTG		0.617	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		28	50	0	0	0	1	0	28	50				
CDH18	1016	broad.mit.edu	37	5	19838956	19838956	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:19838956A>G	ENST00000507958.1	-	5	1130	c.140T>C	c.(139-141)gTc>gCc	p.V47A	CDH18_ENST00000382275.1_Missense_Mutation_p.V47A|CDH18_ENST00000506372.1_Missense_Mutation_p.V47A|CDH18_ENST00000502796.1_Missense_Mutation_p.V47A|CDH18_ENST00000511273.1_Missense_Mutation_p.V47A|CDH18_ENST00000274170.4_Missense_Mutation_p.V47A			Q13634	CAD18_HUMAN	cadherin 18, type 2	47					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACGATGATGGACTTCGGTTTC	0.433																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(139-141)gTc>gCc		cadherin 18, type 2							218.0	180.0	193.0					5																	19838956		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19838956A>G	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.140T>C	5.37:g.19838956A>G	ENSP00000425093:p.Val47Ala					CDH18_ENST00000506372.1_Missense_Mutation_p.V47A|CDH18_ENST00000274170.4_Missense_Mutation_p.V47A|CDH18_ENST00000382275.1_Missense_Mutation_p.V47A|CDH18_ENST00000511273.1_Missense_Mutation_p.V47A|CDH18_ENST00000502796.1_Missense_Mutation_p.V47A	p.V47A			Q13634	CAD18_HUMAN			5	1130	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		47					A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.140T>C	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.628809	0.67015	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	L	0.41492	1.28	0.48288	D	0.999624	B;B	0.28512	0.214;0.017	B;B	0.25506	0.061;0.007	T	0.06058	-1.0848	9	.	.	.	.	15.2006	0.73132	1.0:0.0:0.0:0.0	.	47;47	B4DHG6;Q13634	.;CAD18_HUMAN	A	47	ENSP00000371710:V47A;ENSP00000425093:V47A;ENSP00000274170:V47A;ENSP00000424931:V47A;ENSP00000422138:V47A;ENSP00000425854:V47A	.	V	-	2	0	CDH18	19874713	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.918000	0.92759	2.263000	0.75096	0.533000	0.62120	GTC		0.433	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		13	30	0	0	0	1	0	13	30				
MIR450A1	554214	broad.mit.edu	37	X	133674628	133674628	+	RNA	SNP	C	C	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:133674628C>A	ENST00000362262.1	-	0	0				MIR542_ENST00000385050.1_RNA|MIR450A2_ENST00000385022.1_RNA|MIR450B_ENST00000401182.1_RNA	NR_029962.1				microRNA 450a-1																		AGTTTAGCATCTTTCTTTGGt	0.303																																						ENST00000385022.1																			0																				101.0	78.0	85.0					X																	133674628		1568	3578	5146			0							g.chrX:133674628C>A			Xq26.3	2011-09-12	2007-10-23	2008-12-18	ENSG00000199132	ENSG00000199132		"""ncRNAs / Micro RNAs"""	28008	non-coding RNA	RNA, micro			"""microRNA 450"", ""microRNA 450-1"""	MIRN450, MIRN450-1, MIRN450A1			Standard	NR_029962		Approved	hsa-mir-450, hsa-mir-450-1, hsa-mir-450a-1	uc011mvl.2				X.37:g.133674628C>A								NR_030227.1						0	9	-									RNA	SNP	ENST00000362262.1	37																																																																																						0.303	MIR450A1-201	KNOWN	basic	miRNA	miRNA		NR_029962		7	25	1	0	8.12818e-05	1	8.21374e-05	7	25				
ILF3	3609	broad.mit.edu	37	19	10793939	10793939	+	Splice_Site	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:10793939G>A	ENST00000590261.1	+	13	1674		c.e13+1		ILF3_ENST00000318511.3_Splice_Site|ILF3_ENST00000592763.1_Splice_Site|ILF3_ENST00000250241.8_Splice_Site|ILF3_ENST00000589998.1_Splice_Site|ILF3_ENST00000449870.1_Splice_Site|ILF3_ENST00000420083.1_Splice_Site|ILF3_ENST00000407004.3_Splice_Site|ILF3_ENST00000588657.1_Splice_Site			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa						defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CGTCATGGAGGTGCGCAGCCT	0.637																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.e14+1		interleukin enhancer binding factor 3, 90kDa							49.0	49.0	49.0					19																	10793939		2203	4300	6503	SO:0001630	splice_region_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10793939G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1674+1G>A	19.37:g.10793939G>A						ILF3_ENST00000588657.1_Splice_Site|ILF3_ENST00000420083.1_Splice_Site|ILF3_ENST00000318511.3_Splice_Site|ILF3_ENST00000407004.3_Splice_Site|ILF3_ENST00000250241.8_Splice_Site|ILF3_ENST00000589998.1_Splice_Site|ILF3_ENST00000592763.1_Splice_Site|ILF3_ENST00000590261.1_Splice_Site		NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		14	2003	+								A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Splice_Site	SNP	ENST00000590261.1	37		CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983560	0.93044	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8865	0.92379	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ILF3	10654939	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.827000	0.99397	2.761000	0.94854	0.650000	0.86243	.		0.637	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1		Intron	4	86	0	0	0	1	0	4	86				
ASB17	127247	broad.mit.edu	37	1	76397738	76397738	+	Missense_Mutation	SNP	C	C	T	rs148576874		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:76397738C>T	ENST00000284142.6	-	1	378	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	80					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TACTTCAAAACGGTATCCTGA	0.373																																						ENST00000284142.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						c.(238-240)cGt>cAt		ankyrin repeat and SOCS box containing 17		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	124.0	115.0	118.0		239	2.0	0.9	1	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASB17	NM_080868.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	80/296	76397738	2,13004	2203	4300	6503	SO:0001583	missense	127247				intracellular signal transduction			g.chr1:76397738C>T	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.239G>A	1.37:g.76397738C>T	ENSP00000284142:p.Arg80His						p.R80H	NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN			1	378	-			80					B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	c.239G>A	CCDS671.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185544	0.38609	2.27E-4	1.16E-4	ENSG00000154007	ENST00000284142	T	0.44083	0.93	6.08	1.99	0.26369	.	0.334157	0.26096	N	0.026370	T	0.08492	0.0211	N	0.14661	0.345	0.29556	N	0.851016	B	0.11235	0.004	B	0.04013	0.001	T	0.23048	-1.0199	10	0.45353	T	0.12	.	5.2181	0.15354	0.0:0.5974:0.1461:0.2565	.	80	Q8WXJ9	ASB17_HUMAN	H	80	ENSP00000284142:R80H	ENSP00000284142:R80H	R	-	2	0	ASB17	76170326	0.998000	0.40836	0.940000	0.37924	0.341000	0.28922	0.428000	0.21395	0.112000	0.17975	-0.345000	0.07892	CGT		0.373	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		17	37	0	0	0	1	0	17	37				
SH2D1A	4068	broad.mit.edu	37	X	123504071	123504071	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:123504071C>G	ENST00000371139.4	+	3	546	c.247C>G	c.(247-249)Ctc>Gtc	p.L83V	SH2D1A_ENST00000360027.4_Missense_Mutation_p.L83V|SH2D1A_ENST00000477673.2_Intron|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000491950.1_3'UTR	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	83	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|humoral immune response (GO:0006959)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)	p.L83V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AATAAAAAATCTCATTTCAGC	0.373																																						ENST00000371139.4																			1	Substitution - Missense(1)	p.L83V(1)	lung(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(247-249)Ctc>Gtc		SH2 domain containing 1A							114.0	111.0	112.0					X																	123504071		2203	4300	6503	SO:0001583	missense	4068				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	g.chrX:123504071C>G	AL023657	CCDS14608.1, CCDS48162.1	Xq25	2014-09-17	2010-04-21		ENSG00000183918	ENSG00000183918		"""SH2 domain containing"""	10820	protein-coding gene	gene with protein product	"""Duncan's disease"""	300490	"""lymphoproliferative syndrome"", ""SH2 domain protein 1A"""	IMD5, LYP		9771704, 9774102	Standard	NM_001114937		Approved	XLP, MTCP1, DSHP, XLPD, EBVS, SAP	uc004euf.4	O60880	OTTHUMG00000022344	ENST00000371139.4:c.247C>G	X.37:g.123504071C>G	ENSP00000360181:p.Leu83Val					SH2D1A_ENST00000360027.4_Missense_Mutation_p.L83V|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000470647.1_3'UTR	p.L83V	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN			3	546	+			83			SH2.		A8MSW0|O95383|O95384|O95385|O95386|Q6FGS6|Q9UNR0	Missense_Mutation	SNP	ENST00000371139.4	37	c.247C>G	CCDS14608.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262853	0.59431	.	.	ENSG00000183918	ENST00000371139;ENST00000360027	D;D	0.96073	-3.9;-3.9	5.23	5.23	0.72850	SH2 motif (5);	0.000000	0.64402	D	0.000001	D	0.97854	0.9295	M	0.92026	3.265	0.48395	D	0.999647	D;D	0.71674	0.997;0.998	D;D	0.83275	0.993;0.996	D	0.98421	1.0577	10	0.87932	D	0	-13.1415	10.4445	0.44486	0.0:0.9087:0.0:0.0913	.	83;83	O60880-4;O60880	.;SH21A_HUMAN	V	83	ENSP00000360181:L83V;ENSP00000353126:L83V	ENSP00000353126:L83V	L	+	1	0	SH2D1A	123331752	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.385000	0.52485	2.160000	0.67779	0.594000	0.82650	CTC		0.373	SH2D1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058174.1	NM_002351		4	130	0	0	0	1	0	4	130				
FAT1	2195	broad.mit.edu	37	4	187557901	187557901	+	Silent	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr4:187557901C>T	ENST00000441802.2	-	5	4019	c.3810G>A	c.(3808-3810)ccG>ccA	p.P1270P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1270	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGTGATAGAGCGGCTCCCGTC	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(3808-3810)ccG>ccA		FAT atypical cadherin 1							199.0	201.0	201.0					4																	187557901		1861	4105	5966	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187557901C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3810G>A	4.37:g.187557901C>T		HNSCC(5;0.00058)					p.P1270P	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			5	4019	-			1270			Cadherin 11.			Silent	SNP	ENST00000441802.2	37	c.3810G>A	CCDS47177.1																																																																																				0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		5	285	0	0	0	1	0	5	285				
ISLR2	57611	broad.mit.edu	37	15	74426192	74426192	+	Missense_Mutation	SNP	C	C	T	rs555771000		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr15:74426192C>T	ENST00000361742.3	+	4	1866	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	ISLR2_ENST00000445793.1_Missense_Mutation_p.T366M|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.T366M|ISLR2_ENST00000453268.2_Missense_Mutation_p.T366M|ISLR2_ENST00000565540.1_Missense_Mutation_p.T366M|ISLR2_ENST00000419208.1_Missense_Mutation_p.T366M|ISLR2_ENST00000435464.1_Missense_Mutation_p.T366M	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	366	Ig-like.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCCAACTCTACGTCAATACGC	0.672																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(1096-1098)aCg>aTg		immunoglobulin superfamily containing leucine-rich repeat 2							16.0	18.0	17.0					15																	74426192		2196	4294	6490	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74426192C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1097C>T	15.37:g.74426192C>T	ENSP00000355402:p.Thr366Met					ISLR2_ENST00000453268.2_Missense_Mutation_p.T366M|ISLR2_ENST00000419208.1_Missense_Mutation_p.T366M|ISLR2_ENST00000435464.1_Missense_Mutation_p.T366M|ISLR2_ENST00000565540.1_Missense_Mutation_p.T366M|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.T366M|ISLR2_ENST00000445793.1_Missense_Mutation_p.T366M	p.T366M	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	1866	+			366			Ig-like.		A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.1097C>T	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	C	9.153	1.016675	0.19355	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	4.77	2.82	0.32997	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.203562	0.41001	D	0.000976	T	0.26955	0.0660	L	0.53671	1.685	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.03403	-1.1040	10	0.72032	D	0.01	.	9.7458	0.40446	0.0:0.5237:0.3989:0.0774	.	366	Q6UXK2	ISLR2_HUMAN	M	366	ENSP00000403244:T366M;ENSP00000355402:T366M;ENSP00000411443:T366M;ENSP00000411834:T366M;ENSP00000408872:T366M	ENSP00000355402:T366M	T	+	2	0	ISLR2	72213245	0.360000	0.24964	0.039000	0.18376	0.314000	0.28054	2.197000	0.42696	0.406000	0.25560	0.305000	0.20034	ACG		0.672	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		14	18	0	0	0	1	0	14	18				
KCNT1	57582	broad.mit.edu	37	9	138669222	138669222	+	Silent	SNP	C	C	T	rs530678159		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr9:138669222C>T	ENST00000263604.3	+	21	2331	c.2331C>T	c.(2329-2331)taC>taT	p.Y777Y	KCNT1_ENST00000487664.1_Silent_p.Y751Y|KCNT1_ENST00000298480.5_Silent_p.Y796Y|KCNT1_ENST00000371757.2_Silent_p.Y796Y|KCNT1_ENST00000488444.2_Silent_p.Y777Y|KCNT1_ENST00000486577.2_Silent_p.Y755Y|KCNT1_ENST00000490355.2_Silent_p.Y775Y|KCNT1_ENST00000491806.2_Silent_p.Y763Y			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	777			Y -> H (in ENFL5). {ECO:0000269|PubMed:23086396}.		potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCAAGGCCTACGGGTTCAAGA	0.602																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2386-2388)taC>taT		potassium channel, subfamily T, member 1							115.0	102.0	107.0					9																	138669222		2203	4300	6503	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138669222C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2331C>T	9.37:g.138669222C>T						KCNT1_ENST00000263604.3_Silent_p.Y777Y|KCNT1_ENST00000486577.2_Silent_p.Y755Y|KCNT1_ENST00000371757.2_Silent_p.Y796Y|KCNT1_ENST00000490355.2_Silent_p.Y775Y|KCNT1_ENST00000487664.1_Silent_p.Y751Y|KCNT1_ENST00000491806.2_Silent_p.Y763Y|KCNT1_ENST00000488444.2_Silent_p.Y777Y	p.Y796Y			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	21	2462	+		Myeloproliferative disorder(178;0.0821)	796					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.2388C>T																																																																																					0.602	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		23	116	0	0	0	1	0	23	116				
RAP2B	5912	broad.mit.edu	37	3	152880516	152880516	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr3:152880516G>A	ENST00000323534.2	+	1	488	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	12					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GCTGGGCTCGGGCGGCGTGGG	0.667																																						ENST00000323534.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(34-36)Ggc>Agc		RAP2B, member of RAS oncogene family							45.0	44.0	44.0					3																	152880516		2203	4300	6503	SO:0001583	missense	5912				Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chr3:152880516G>A		CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"""Ras-related protein RAP-2B"", ""small GTP binding protein"", ""Ras family small GTP binding protein RAP2B"""	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.34G>A	3.37:g.152880516G>A	ENSP00000319096:p.Gly12Ser						p.G12S	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	488	+			12					P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	ENST00000323534.2	37	c.34G>A	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590791	0.86851	.	.	ENSG00000181467	ENST00000323534	T	0.76316	-1.01	5.14	3.3	0.37823	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	T	0.79381	0.4436	N	0.21545	0.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79729	-0.1681	10	0.72032	D	0.01	.	12.0719	0.53622	0.0:0.0:0.6864:0.3136	.	12	P61225	RAP2B_HUMAN	S	12	ENSP00000319096:G12S	ENSP00000319096:G12S	G	+	1	0	RAP2B	154363206	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.462000	0.73526	0.517000	0.28361	0.563000	0.77884	GGC		0.667	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	NM_002886		26	29	0	0	0	1	0	26	29				
IQCA1	79781	broad.mit.edu	37	2	237272426	237272426	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:237272426G>A	ENST00000409907.3	-	15	2140	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	IQCA1_ENST00000431676.2_Silent_p.F581F|IQCA1_ENST00000309507.5_Silent_p.F619F	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	622							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCCATACCTTGAAGACTGCAT	0.448																																						ENST00000409907.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.(1864-1866)ttC>ttT		IQ motif containing with AAA domain 1							142.0	137.0	139.0					2																	237272426		1945	4138	6083	SO:0001819	synonymous_variant	79781						ATP binding	g.chr2:237272426G>A	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1866C>T	2.37:g.237272426G>A						IQCA1_ENST00000431676.2_Silent_p.F581F|IQCA1_ENST00000309507.5_Silent_p.F619F	p.F622F			Q86XH1	IQCA1_HUMAN			15	2140	-			622					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Silent	SNP	ENST00000409907.3	37	c.1866C>T	CCDS46549.1																																																																																				0.448	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		15	98	0	0	0	1	0	15	98				
SHROOM4	57477	broad.mit.edu	37	X	50378311	50378311	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:50378311C>A	ENST00000289292.7	-	4	1045	c.762G>T	c.(760-762)atG>atT	p.M254I	SHROOM4_ENST00000460112.3_Missense_Mutation_p.M138I|SHROOM4_ENST00000376020.2_Missense_Mutation_p.M254I			Q9ULL8	SHRM4_HUMAN	shroom family member 4	254					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GACGGGATGACATCTGAGAGC	0.652																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(760-762)atG>atT		shroom family member 4							16.0	13.0	14.0					X																	50378311		2200	4295	6495	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50378311C>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.762G>T	X.37:g.50378311C>A	ENSP00000289292:p.Met254Ile					SHROOM4_ENST00000460112.3_Missense_Mutation_p.M138I|SHROOM4_ENST00000289292.7_Missense_Mutation_p.M254I	p.M254I	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	787	-	Ovarian(276;0.236)		254					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.762G>T	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	3.636	-0.074464	0.07184	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.13657	2.98;2.98;2.57	5.77	1.32	0.21799	.	0.608574	0.14748	N	0.300755	T	0.07458	0.0188	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33111	-0.9881	10	0.33141	T	0.24	.	3.4972	0.07659	0.2599:0.4345:0.0:0.3056	.	254	Q9ULL8	SHRM4_HUMAN	I	254;254;138	ENSP00000289292:M254I;ENSP00000365188:M254I;ENSP00000421450:M138I	ENSP00000289292:M254I	M	-	3	0	SHROOM4	50395051	0.012000	0.17670	0.004000	0.12327	0.885000	0.51271	-0.251000	0.08818	0.277000	0.22141	0.600000	0.82982	ATG		0.652	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		6	13	1	0	8.12818e-05	1	8.21374e-05	6	13				
SSUH2	51066	broad.mit.edu	37	3	8661621	8661621	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr3:8661621C>T	ENST00000317371.4	-	19	2220	c.995G>A	c.(994-996)gGc>gAc	p.G332D	SSUH2_ENST00000341795.3_Missense_Mutation_p.G332D|SSUH2_ENST00000544814.1_Missense_Mutation_p.G354D|SSUH2_ENST00000415132.1_3'UTR			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	332						cytoplasm (GO:0005737)											GTGGTCAGTGCCATAGATGTA	0.507																																						ENST00000317371.4																			0											c.(994-996)gGc>gAc		ssu-2 homolog (C. elegans)							174.0	150.0	158.0					3																	8661621		2203	4300	6503	SO:0001583	missense	51066							g.chr3:8661621C>T	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.995G>A	3.37:g.8661621C>T	ENSP00000324551:p.Gly332Asp					SSUH2_ENST00000341795.3_Missense_Mutation_p.G332D|SSUH2_ENST00000544814.1_Missense_Mutation_p.G354D|SSUH2_ENST00000415132.1_3'UTR	p.G332D							19	2220	-								A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	c.995G>A	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458916	0.84317	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000544814	T;T;T	0.80909	-1.36;-1.36;-1.43	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.88782	0.6530	M	0.73430	2.235	0.51233	D	0.999914	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89987	0.4105	10	0.87932	D	0	-19.9497	13.9457	0.64082	0.0:1.0:0.0:0.0	.	354;332	F5H2S5;Q9Y2M2	.;CC032_HUMAN	D	332;332;354	ENSP00000339150:G332D;ENSP00000324551:G332D;ENSP00000439378:G354D	ENSP00000324551:G332D	G	-	2	0	C3orf32	8636621	0.994000	0.37717	1.000000	0.80357	0.907000	0.53573	3.469000	0.53093	2.335000	0.79485	0.467000	0.42956	GGC		0.507	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		24	55	0	0	0	1	0	24	55				
SSTR4	6754	broad.mit.edu	37	20	23016235	23016235	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr20:23016235C>T	ENST00000255008.3	+	1	179	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	39					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTggcggggcccggggacgc	0.736																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(115-117)Ccc>Tcc		somatostatin receptor 4							20.0	29.0	26.0					20																	23016235		2079	4219	6298	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016235C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.115C>T	20.37:g.23016235C>T	ENSP00000255008:p.Pro39Ser					RP4-753D10.3_ENST00000440921.1_RNA	p.P39S	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	179	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		39					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.115C>T	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	0.681	-0.798153	0.02862	.	.	ENSG00000132671	ENST00000255008	T	0.67171	-0.25	3.31	-6.62	0.01813	.	.	.	.	.	T	0.25754	0.0627	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27157	-1.0082	9	0.07482	T	0.82	.	0.0477	0.00010	0.2661:0.2322:0.2181:0.2836	.	39	P31391	SSR4_HUMAN	S	39	ENSP00000255008:P39S	ENSP00000255008:P39S	P	+	1	0	SSTR4	22964235	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.275000	0.02817	-2.048000	0.00907	-1.443000	0.01068	CCC		0.736	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			28	57	0	0	0	1	0	28	57				
ARID2	196528	broad.mit.edu	37	12	46231295	46231295	+	Missense_Mutation	SNP	G	G	C	rs549448155		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:46231295G>C	ENST00000334344.6	+	10	1307	c.1135G>C	c.(1135-1137)Gga>Cga	p.G379R	ARID2_ENST00000422737.1_Missense_Mutation_p.G230R|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.G8R	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	379					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGAAATTTTGGGAAATCTTTG	0.318			"""N, S, F"""		hepatocellular carcinoma								G|||	1	0.000199681	0.0	0.0	5008	,	,		18792	0.001		0.0	False		,,,				2504	0.0					ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(1135-1137)Gga>Cga		AT rich interactive domain 2 (ARID, RFX-like)							92.0	91.0	91.0					12																	46231295		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46231295G>C		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1135G>C	12.37:g.46231295G>C	ENSP00000335044:p.Gly379Arg					ARID2_ENST00000444670.1_Missense_Mutation_p.G8R|ARID2_ENST00000422737.1_Missense_Mutation_p.G230R|ARID2_ENST00000479608.1_3'UTR	p.G379R	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	10	1307	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	379					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.1135G>C	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009540	0.75046	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T;T	0.53423	0.62;0.62	5.33	5.33	0.75918	.	0.059231	0.64402	D	0.000002	T	0.61085	0.2319	L	0.50333	1.59	0.80722	D	1	D;P;P	0.57899	0.981;0.773;0.954	P;P;P	0.58970	0.849;0.491;0.784	T	0.60052	-0.7338	10	0.46703	T	0.11	-8.3064	19.024	0.92925	0.0:0.0:1.0:0.0	.	379;230;379	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	R	379;230;8	ENSP00000335044:G379R;ENSP00000415650:G230R	ENSP00000335044:G379R	G	+	1	0	ARID2	44517562	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	9.869000	0.99810	2.486000	0.83907	0.313000	0.20887	GGA		0.318	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		4	72	0	0	0	1	0	4	72				
ASIC3	9311	broad.mit.edu	37	7	150749681	150749681	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:150749681C>T	ENST00000349064.5	+	11	1736	c.1538C>T	c.(1537-1539)gCc>gTc	p.A513V	ASIC3_ENST00000297512.8_Missense_Mutation_p.P520S|ASIC3_ENST00000357922.4_Silent_p.C493C	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	513					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										CCTCCCTGTGCCGTCACCAAG	0.632																																						ENST00000349064.5																			0											c.(1537-1539)gCc>gTc		acid-sensing (proton-gated) ion channel 3							182.0	130.0	148.0					7																	150749681		2203	4300	6503	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150749681C>T	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.1538C>T	7.37:g.150749681C>T	ENSP00000344838:p.Ala513Val					ASIC3_ENST00000357922.4_Silent_p.C493C|ASIC3_ENST00000297512.8_Missense_Mutation_p.P520S	p.A513V	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ACCN3_HUMAN			11	1736	+			513					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.1538C>T	CCDS5916.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.808|6.808	0.518163|0.518163	0.13005|0.13005	.|.	.|.	ENSG00000213199|ENSG00000213199	ENST00000349064|ENST00000297512	T|T	0.67345|0.63913	-0.26|-0.07	4.6|4.6	4.6|4.6	0.57074|0.57074	.|.	.|.	.|.	.|.	.|.	T|T	0.41673|0.41673	0.1169|0.1169	.|.	.|.	.|.	0.23727|0.23727	N|N	0.997001|0.997001	B|B	0.23377|0.30281	0.084|0.275	B|B	0.24155|0.25405	0.051|0.06	T|T	0.10154|0.10154	-1.0642|-1.0642	8|8	0.41790|0.11485	T|T	0.15|0.65	-1.0939|-1.0939	13.0963|13.0963	0.59195|0.59195	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	513|520	Q9UHC3|Q9UHC3-3	ACCN3_HUMAN|.	V|S	513|520	ENSP00000344838:A513V|ENSP00000297512:P520S	ENSP00000344838:A513V|ENSP00000297512:P520S	A|P	+|+	2|1	0|0	ACCN3|ACCN3	150380614|150380614	0.004000|0.004000	0.15560|0.15560	0.766000|0.766000	0.31476|0.31476	0.283000|0.283000	0.27025|0.27025	1.161000|1.161000	0.31773|0.31773	2.546000|2.546000	0.85860|0.85860	0.462000|0.462000	0.41574|0.41574	GCC|CCG		0.632	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		35	123	0	0	0	1	0	35	123				
SH2D1A	4068	broad.mit.edu	37	X	123480556	123480556	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:123480556G>T	ENST00000371139.4	+	1	363	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	SH2D1A_ENST00000360027.4_Missense_Mutation_p.A22S|SH2D1A_ENST00000477673.2_Missense_Mutation_p.A22S|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000491950.1_3'UTR	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	22	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|humoral immune response (GO:0006959)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCTCCTGCTTGCCACTGGGCT	0.592																																						ENST00000371139.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	GRCh37	CM056699	SH2D1A	M		c.(64-66)Gcc>Tcc		SH2 domain containing 1A							137.0	105.0	116.0					X																	123480556		2203	4300	6503	SO:0001583	missense	4068				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	g.chrX:123480556G>T	AL023657	CCDS14608.1, CCDS48162.1	Xq25	2014-09-17	2010-04-21		ENSG00000183918	ENSG00000183918		"""SH2 domain containing"""	10820	protein-coding gene	gene with protein product	"""Duncan's disease"""	300490	"""lymphoproliferative syndrome"", ""SH2 domain protein 1A"""	IMD5, LYP		9771704, 9774102	Standard	NM_001114937		Approved	XLP, MTCP1, DSHP, XLPD, EBVS, SAP	uc004euf.4	O60880	OTTHUMG00000022344	ENST00000371139.4:c.64G>T	X.37:g.123480556G>T	ENSP00000360181:p.Ala22Ser					SH2D1A_ENST00000360027.4_Missense_Mutation_p.A22S|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000470647.1_3'UTR	p.A22S	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN			1	363	+			22			SH2.		A8MSW0|O95383|O95384|O95385|O95386|Q6FGS6|Q9UNR0	Missense_Mutation	SNP	ENST00000371139.4	37	c.64G>T	CCDS14608.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.275153	0.23307	.	.	ENSG00000183918	ENST00000371139;ENST00000360027;ENST00000394475	D;D	0.88046	-2.33;-2.33	5.51	4.65	0.58169	SH2 motif (4);	0.401457	0.27778	N	0.017885	T	0.73140	0.3549	N	0.13043	0.29	0.30897	N	0.72971	B;B	0.18610	0.012;0.029	B;B	0.17979	0.012;0.02	T	0.61783	-0.6992	10	0.06625	T	0.88	-12.883	10.8975	0.47031	0.0932:0.0:0.9068:0.0	.	22;22	O60880-4;O60880	.;SH21A_HUMAN	S	22	ENSP00000360181:A22S;ENSP00000353126:A22S	ENSP00000353126:A22S	A	+	1	0	SH2D1A	123308237	0.366000	0.25014	0.114000	0.21550	0.944000	0.59088	1.847000	0.39299	1.083000	0.41159	0.513000	0.50165	GCC		0.592	SH2D1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058174.1	NM_002351		33	74	1	0	2.46105e-21	1	2.65462e-21	33	74				
ACVR2A	92	broad.mit.edu	37	2	148657327	148657327	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:148657327G>A	ENST00000241416.7	+	4	1024	c.388G>A	c.(388-390)Gtt>Att	p.V130I	AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000404590.1_Missense_Mutation_p.V130I|ACVR2A_ENST00000535787.1_Missense_Mutation_p.V22I	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	130					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTCAAATCCAGTTACACCTAA	0.398																																						ENST00000241416.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(388-390)Gtt>Att		activin A receptor, type IIA							286.0	284.0	285.0					2																	148657327		2203	4300	6503	SO:0001583	missense	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148657327G>A		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.388G>A	2.37:g.148657327G>A	ENSP00000241416:p.Val130Ile					ACVR2A_ENST00000535787.1_Missense_Mutation_p.V22I|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000404590.1_Missense_Mutation_p.V130I	p.V130I	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	4	1024	+			130					B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.388G>A	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843735	0.32606	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.83914	-1.78;-1.69;-1.78	5.32	5.32	0.75619	.	0.103566	0.64402	D	0.000003	T	0.77398	0.4124	L	0.50333	1.59	0.42372	D	0.992458	B	0.16166	0.016	B	0.14578	0.011	T	0.70850	-0.4760	10	0.14656	T	0.56	.	14.2301	0.65885	0.0:0.0:0.8508:0.1492	.	130	P27037	AVR2A_HUMAN	I	130;22;130	ENSP00000241416:V130I;ENSP00000439988:V22I;ENSP00000384338:V130I	ENSP00000241416:V130I	V	+	1	0	ACVR2A	148373797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.449000	0.66619	2.656000	0.90262	0.650000	0.86243	GTT		0.398	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		133	252	0	0	0	1	0	133	252				
KRT24	192666	broad.mit.edu	37	17	38857428	38857428	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr17:38857428G>A	ENST00000264651.2	-	3	875	c.819C>T	c.(817-819)acC>acT	p.T273T		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	273	Coil 1B.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CTAGCTCCTCGGTGAAACTCT	0.498																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(817-819)acC>acT		keratin 24							135.0	117.0	123.0					17																	38857428		2203	4300	6503	SO:0001819	synonymous_variant	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38857428G>A		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.819C>T	17.37:g.38857428G>A							p.T273T	NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN			3	875	-		Breast(137;0.00526)	273			Coil 1B.|Rod.		Q9NXG7	Silent	SNP	ENST00000264651.2	37	c.819C>T	CCDS11372.1																																																																																				0.498	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		34	64	0	0	0	1	0	34	64				
LTN1	26046	broad.mit.edu	37	21	30338725	30338725	+	Missense_Mutation	SNP	C	C	T	rs369102162		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr21:30338725C>T	ENST00000361371.5	-	10	2167	c.2088G>A	c.(2086-2088)atG>atA	p.M696I	LTN1_ENST00000389194.2_Missense_Mutation_p.M742I|LTN1_ENST00000389195.2_Missense_Mutation_p.M742I			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	696					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TTTTTCTTTCCATATCATTGT	0.368																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(2086-2088)atG>atA		listerin E3 ubiquitin protein ligase 1		C	ILE/MET	1,4405	2.1+/-5.4	0,1,2202	89.0	91.0	90.0		2226	2.4	0.7	21		90	0,8600		0,0,4300	no	missense	LTN1	NM_015565.2	10	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	742/1813	30338725	1,13005	2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30338725C>T	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2088G>A	21.37:g.30338725C>T	ENSP00000354977:p.Met696Ile					LTN1_ENST00000389194.2_Missense_Mutation_p.M742I|LTN1_ENST00000389195.2_Missense_Mutation_p.M742I	p.M696I	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			10	2238	-			696					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.2088G>A		.	.	.	.	.	.	.	.	.	.	C	11.02	1.516616	0.27123	2.27E-4	0.0	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000389195	T;T;T	0.65364	2.32;2.33;-0.15	5.13	2.36	0.29203	.	1.252370	0.04844	N	0.441128	T	0.43523	0.1251	N	0.14661	0.345	0.20764	N	0.99985	B	0.02656	0.0	B	0.01281	0.0	T	0.31888	-0.9927	10	0.42905	T	0.14	.	3.4077	0.07347	0.2753:0.4069:0.0:0.3178	.	696	O94822	LTN1_HUMAN	I	742;696;742	ENSP00000373846:M742I;ENSP00000354977:M696I;ENSP00000373847:M742I	ENSP00000354977:M696I	M	-	3	0	LTN1	29260596	0.000000	0.05858	0.735000	0.30896	0.955000	0.61496	-0.477000	0.06583	0.866000	0.35629	0.650000	0.86243	ATG		0.368	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		6	115	0	0	0	1	0	6	115				
FZD9	8326	broad.mit.edu	37	7	72849818	72849818	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:72849818G>A	ENST00000344575.3	+	1	1710	c.1481G>A	c.(1480-1482)cGg>cAg	p.R494Q		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	494					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCCGGAGGCCGGAGGGACTGC	0.647																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(1480-1482)cGg>cAg		frizzled family receptor 9							30.0	34.0	33.0					7																	72849818		2202	4299	6501	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849818G>A	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1481G>A	7.37:g.72849818G>A	ENSP00000345785:p.Arg494Gln						p.R494Q	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1710	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	494						Missense_Mutation	SNP	ENST00000344575.3	37	c.1481G>A	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436429	0.25813	.	.	ENSG00000188763	ENST00000344575	D	0.81739	-1.53	4.88	4.88	0.63580	GPCR, family 2-like (1);	0.279999	0.18322	U	0.144780	T	0.64327	0.2588	N	0.17379	0.485	0.37910	D	0.931337	P	0.46987	0.888	B	0.40009	0.316	T	0.65278	-0.6207	10	0.09590	T	0.72	.	12.8503	0.57855	0.0:0.1639:0.8361:0.0	.	494	O00144	FZD9_HUMAN	Q	494	ENSP00000345785:R494Q	ENSP00000345785:R494Q	R	+	2	0	FZD9	72487754	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.765000	0.47621	2.261000	0.74972	0.563000	0.77884	CGG		0.647	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			22	163	0	0	0	1	0	22	163				
ERC2	26059	broad.mit.edu	37	3	56330169	56330169	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr3:56330169G>A	ENST00000288221.6	-	3	1207	c.952C>T	c.(952-954)Cca>Tca	p.P318S		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	318						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.P318S(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTTTTGGATGGCAAGCCTTTA	0.458																																						ENST00000288221.6																			2	Substitution - Missense(2)	p.P318S(2)	lung(2)	breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(952-954)Cca>Tca		ELKS/RAB6-interacting/CAST family member 2							232.0	229.0	230.0					3																	56330169		1890	4107	5997	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56330169G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.952C>T	3.37:g.56330169G>A	ENSP00000288221:p.Pro318Ser						p.P318S	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	3	1207	-			318					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.952C>T	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027397	0.35797	.	.	ENSG00000187672	ENST00000288221	T	0.38240	1.15	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.32675	0.0837	N	0.02192	-0.645	0.58432	D	0.999998	D	0.69078	0.997	D	0.79108	0.992	T	0.18398	-1.0338	10	0.05351	T	0.99	-15.8611	20.1615	0.98135	0.0:0.0:1.0:0.0	.	318	O15083	ERC2_HUMAN	S	318	ENSP00000288221:P318S	ENSP00000288221:P318S	P	-	1	0	ERC2	56305209	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.200000	0.65158	2.835000	0.97688	0.650000	0.86243	CCA		0.458	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		5	233	0	0	0	1	0	5	233				
PTPRR	5801	broad.mit.edu	37	12	71095000	71095000	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:71095000G>A	ENST00000283228.2	-	7	1563	c.1111C>T	c.(1111-1113)Ctg>Ttg	p.L371L	PTPRR_ENST00000342084.4_Silent_p.L259L|PTPRR_ENST00000378778.1_Silent_p.L165L|PTPRR_ENST00000440835.2_Silent_p.L126L|PTPRR_ENST00000549308.1_Silent_p.L126L	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	371					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCTGACTGCAGATACTCCATT	0.468																																						ENST00000283228.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(1111-1113)Ctg>Ttg		protein tyrosine phosphatase, receptor type, R							171.0	150.0	157.0					12																	71095000		2203	4300	6503	SO:0001819	synonymous_variant	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71095000G>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1111C>T	12.37:g.71095000G>A						PTPRR_ENST00000549308.1_Silent_p.L126L|PTPRR_ENST00000440835.2_Silent_p.L126L|PTPRR_ENST00000378778.1_Silent_p.L165L|PTPRR_ENST00000342084.4_Silent_p.L259L	p.L371L	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	7	1563	-			371					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	ENST00000283228.2	37	c.1111C>T	CCDS8998.1																																																																																				0.468	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		278	321	0	0	0	1	0	278	321				
RPL10L	140801	broad.mit.edu	37	14	47120845	47120845	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr14:47120845C>T	ENST00000298283.3	-	1	183	c.95G>A	c.(94-96)cGc>cAc	p.R32H		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	32					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GTCAAAGATGCGGATCTTGGC	0.537																																						ENST00000298283.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						c.(94-96)cGc>cAc		ribosomal protein L10-like							108.0	111.0	110.0					14																	47120845		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120845C>T	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.95G>A	14.37:g.47120845C>T	ENSP00000298283:p.Arg32His						p.R32H	NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN			1	183	-			32					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.95G>A	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182963	0.57800	.	.	ENSG00000165496	ENST00000298283	T	0.73897	-0.79	4.32	3.43	0.39272	Ribosomal protein L10e/L16 (2);	0.054186	0.64402	N	0.000001	D	0.84456	0.5476	H	0.99238	4.48	0.80722	D	1	B	0.12013	0.005	B	0.24541	0.054	D	0.85111	0.0963	10	0.87932	D	0	-21.957	10.3884	0.44154	0.0:0.9034:0.0:0.0966	.	32	Q96L21	RL10L_HUMAN	H	32	ENSP00000298283:R32H	ENSP00000298283:R32H	R	-	2	0	RPL10L	46190595	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.325000	0.65869	1.414000	0.47017	0.655000	0.94253	CGC		0.537	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			4	136	0	0	0	1	0	4	136				
KSR2	283455	broad.mit.edu	37	12	117962802	117962802	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:117962802G>A	ENST00000339824.5	-	14	2801	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W	KSR2_ENST00000302438.5_Missense_Mutation_p.R389W|KSR2_ENST00000425217.1_Missense_Mutation_p.R663W|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	692	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCAATCAGCCGGATGGCCACC	0.597																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1987-1989)Cgg>Tgg		kinase suppressor of ras 2							55.0	58.0	57.0					12																	117962802		2104	4209	6313	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117962802G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2074C>T	12.37:g.117962802G>A	ENSP00000339952:p.Arg692Trp					KSR2_ENST00000339824.5_Missense_Mutation_p.R692W|KSR2_ENST00000302438.5_Missense_Mutation_p.R389W|KSR2_ENST00000545002.1_5'UTR	p.R663W	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			14	2041	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		692					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1987C>T		.	.	.	.	.	.	.	.	.	.	G	18.76	3.691779	0.68271	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	D;D;D	0.89875	-2.58;-2.58;-2.58	4.91	1.77	0.24775	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92018	0.7471	M	0.67700	2.07	0.52501	D	0.999954	D	0.89917	1.0	D	0.97110	1.0	D	0.90743	0.4651	10	0.87932	D	0	.	8.735	0.34523	0.076:0.0:0.5682:0.3558	.	692	Q6VAB6	KSR2_HUMAN	W	663;692;389;364	ENSP00000389715:R663W;ENSP00000339952:R692W;ENSP00000305466:R389W	ENSP00000305466:R389W	R	-	1	2	KSR2	116447185	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.312000	0.65792	0.643000	0.30638	-0.199000	0.12753	CGG		0.597	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		14	36	0	0	0	1	0	14	36				
NPY	4852	broad.mit.edu	37	7	24329163	24329163	+	Silent	SNP	G	G	A			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:24329163G>A	ENST00000407573.1	+	4	524	c.234G>A	c.(232-234)ttG>ttA	p.L78L	NPY_ENST00000242152.2_Silent_p.L78L|NPY_ENST00000405982.1_Silent_p.L78L			P01303	NPY_HUMAN	neuropeptide Y	78					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CAGACCTCTTGATGAGAGAAA	0.438																																						ENST00000407573.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						c.(232-234)ttG>ttA		neuropeptide Y							127.0	118.0	121.0					7																	24329163		2203	4300	6503	SO:0001819	synonymous_variant	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24329163G>A	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.234G>A	7.37:g.24329163G>A						NPY_ENST00000405982.1_Silent_p.L78L|NPY_ENST00000242152.2_Silent_p.L78L	p.L78L			P01303	NPY_HUMAN			4	524	+			78						Silent	SNP	ENST00000407573.1	37	c.234G>A	CCDS5387.1																																																																																				0.438	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		257	304	0	0	0	1	0	257	304				
ZNF330	27309	broad.mit.edu	37	4	142154882	142154883	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr4:142154882_142154883delAT	ENST00000262990.4	+	10	930_931	c.702_703delAT	c.(700-705)aaatttfs	p.KF234fs	ZNF330_ENST00000421169.2_Frame_Shift_Del_p.KF174fs	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	234						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GCTCCCTGAAATTTGGCAGGCA	0.416																																						ENST00000262990.4																			0				kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(700-705)aattfs		zinc finger protein 330																																				SO:0001589	frameshift_variant	27309					chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	g.chr4:142154882_142154883delAT	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.702_703delAT	4.37:g.142154882_142154883delAT	ENSP00000262990:p.Lys234fs					ZNF330_ENST00000421169.2_Frame_Shift_Del_p.KF174fs	p.KF234fs	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN			10	930_931	+	all_hematologic(180;0.162)		234					B2RDA3	Frame_Shift_Del	DEL	ENST00000262990.4	37	c.702_703delAT	CCDS3754.1																																																																																				0.416	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2	NM_014487		23	35						23	35	---	---	---	---
HDAC2	3066	broad.mit.edu	37	6	114292109	114292110	+	5'UTR	INS	-	-	CTG	rs545748113|rs528988883	byFrequency	TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:114292109_114292110insCTG	ENST00000519065.1	-	0	339_340				HDAC2_ENST00000519108.1_5'Flank|RP3-399L15.3_ENST00000521888.1_RNA|RP3-399L15.3_ENST00000436876.2_RNA|RP3-399L15.3_ENST00000449620.2_RNA|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000522844.1_RNA|HDAC2_ENST00000398283.2_In_Frame_Ins_p.81_82insS|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000520891.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q92769	HDAC2_HUMAN	histone deacetylase 2						ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|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 transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GGCTCCTCCTCctgctgctgct	0.688														365	0.0728834	0.0227	0.1297	5008	,	,		15962	0.0258		0.1034	False		,,,				2504	0.1176					ENST00000398283.2																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(244-246)aag>aCAGag		histone deacetylase 2	Vorinostat(DB02546)																																			SO:0001623	5_prime_UTR_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114292109_114292110insCTG	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.-38->CAG	6.37:g.114292116_114292118dupCTG						RP3-399L15.3_ENST00000520554.1_RNA|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000436876.2_RNA	p.82_82K>TE	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	1	249_250	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	0			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	In_Frame_Ins	INS	ENST00000519065.1	37	c.245_246insCAG	CCDS43493.2																																																																																				0.688	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			6	4						6	4	---	---	---	---
CPVL	54504	broad.mit.edu	37	7	29126156	29126156	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:29126156delG	ENST00000409850.1	-	11	1199	c.553delC	c.(553-555)cagfs	p.Q185fs	AC007096.1_ENST00000411120.1_RNA|CPVL_ENST00000396276.3_Frame_Shift_Del_p.Q185fs|CPVL_ENST00000265394.5_Frame_Shift_Del_p.Q185fs			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	185						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TGGAAAAACTGAATTAGTGCA	0.348																																						ENST00000409850.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(553-555)agfs		carboxypeptidase, vitellogenic-like							73.0	78.0	77.0					7																	29126156		2203	4300	6503	SO:0001589	frameshift_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29126156delG	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.553delC	7.37:g.29126156delG	ENSP00000387164:p.Gln185fs					CPVL_ENST00000396276.3_Frame_Shift_Del_p.Q185fs|CPVL_ENST00000265394.5_Frame_Shift_Del_p.Q185fs	p.Q185fs			Q9H3G5	CPVL_HUMAN			11	1199	-			185					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Frame_Shift_Del	DEL	ENST00000409850.1	37	c.553delC	CCDS5419.1																																																																																				0.348	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		8	519						8	519	---	---	---	---
NEUROD6	63974	broad.mit.edu	37	7	31378634	31378635	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:31378634_31378635insT	ENST00000297142.3	-	2	570_571	c.248_249insA	c.(247-249)aagfs	p.K83fs		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	83					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTTTGTTGTCTTTTTTTTCCT	0.52																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(247-249)aacfs		neuronal differentiation 6																																				SO:0001589	frameshift_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378634_31378635insT	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.249dupA	7.37:g.31378642_31378642dupT	ENSP00000297142:p.Lys83fs						p.N83fs	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	570_571	-			83					Q548T9|Q9H3H6	Frame_Shift_Ins	INS	ENST00000297142.3	37	c.248_249insA	CCDS5434.1																																																																																				0.520	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		9	1791						9	1791	---	---	---	---
CHCHD2	51142	broad.mit.edu	37	7	56170668	56170670	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:56170668_56170670delGCT	ENST00000395422.3	-	3	497_499	c.335_337delAGC	c.(334-339)cagcct>cct	p.Q112del	snoU13_ENST00000458988.1_RNA	NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	112	CHCH.					mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TAGAGGCAAGGCTGCTGCTGCTG	0.488																																						ENST00000395422.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(334-339)cct>c		coiled-coil-helix-coiled-coil-helix domain containing 2																																				SO:0001651	inframe_deletion	51142					mitochondrion		g.chr7:56170668_56170670delGCT	AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	21645	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 17"""	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.335_337delAGC	7.37:g.56170677_56170679delGCT	ENSP00000378812:p.Gln112del						p.QP112del	NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	497_499	-	Breast(14;0.214)		112			CHCH.		Q498C3|Q6NZ50	In_Frame_Del	DEL	ENST00000395422.3	37	c.335_337delAGC	CCDS5526.1																																																																																				0.488	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251589.1	NM_016139		7	650						7	650	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA22_ENST00000384614.1_RNA|SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			9	68						9	68	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		5	3						5	3	---	---	---	---
ANGPT2	285	broad.mit.edu	37	8	6378797	6378798	+	Frame_Shift_Ins	INS	-	-	T	rs34047276		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr8:6378797_6378798insT	ENST00000325203.5	-	4	1174_1175	c.700_701insA	c.(700-702)atafs	p.I234fs	ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.I234fs|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.I234fs|ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.I182fs			O15123	ANGP2_HUMAN	angiopoietin 2	234					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GGCAGTCACTATTTTTTTTTCT	0.366																																						ENST00000325203.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(700-702)agtfs		angiopoietin 2																																				SO:0001589	frameshift_variant	285				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	g.chr8:6378797_6378798insT	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.701dupA	8.37:g.6378806_6378806dupT	ENSP00000314897:p.Ile234fs					ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.S234fs|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.S182fs|ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.S234fs	p.S234fs			O15123	ANGP2_HUMAN		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)	4	1174_1175	-		Hepatocellular(245;0.0663)	234					A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Frame_Shift_Ins	INS	ENST00000325203.5	37	c.700_701insA	CCDS5958.1																																																																																				0.366	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147		7	73						7	73	---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	592586	592588	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr11:592586_592588delGAG	ENST00000264555.5	+	6	660_662	c.532_534delGAG	c.(532-534)gagdel	p.E181del	PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	181	Poly-Glu.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAAAGCGAGCGAGGAGGAGGAGG	0.616																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(532-534)del		PHD and ring finger domains 1																																				SO:0001651	inframe_deletion	57661						RNA polymerase binding|zinc ion binding	g.chr11:592586_592588delGAG	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.532_534delGAG	11.37:g.592595_592597delGAG	ENSP00000264555:p.Glu181del					PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del|PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del	p.E181del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			6	660_662	+			181			Poly-Glu.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	In_Frame_Del	DEL	ENST00000264555.5	37	c.532_534delGAG																																																																																					0.616	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		7	207						7	207	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57972048	57972048	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:57972048delG	ENST00000455537.2	+	23	2735	c.2461delG	c.(2461-2463)gggfs	p.G822fs	KIF5A_ENST00000286452.5_Frame_Shift_Del_p.G733fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	822					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CGAAGACAGTGGGGGGATTCA	0.502																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2461-2463)ggfs		kinesin family member 5A							98.0	97.0	97.0					12																	57972048		2203	4300	6503	SO:0001589	frameshift_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57972048delG	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2461delG	12.37:g.57972048delG	ENSP00000408979:p.Gly822fs					KIF5A_ENST00000286452.5_Frame_Shift_Del_p.G733fs	p.G822fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			23	2735	+			822					A6H8M5|Q4LE26	Frame_Shift_Del	DEL	ENST00000455537.2	37	c.2461delG	CCDS8945.1																																																																																				0.502	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		7	2055						7	2055	---	---	---	---
METTL21B	25895	broad.mit.edu	37	12	58177051	58177052	+	IGR	INS	-	-	G			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:58177051_58177052insG	ENST00000300209.8	+	0	2563				RP11-571M6.15_ENST00000471530.1_Frame_Shift_Ins_p.AG87fs|TSFM_ENST00000454289.3_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000350762.5_5'UTR|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000543727.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000540550.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000550559.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000323833.8_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000548851.1_Frame_Shift_Ins_p.G73fs	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						AGACTTGTGGCGGGGACCTCAA	0.569																																						ENST00000454289.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8						c.(214-219)gggggafs		Ts translation elongation factor, mitochondrial			,,,	17,4247		0,17,2115					,,,	1.2	1.0			107	33,8221		0,33,4094	no	frameshift,frameshift,frameshift,frameshift	TSFM	NM_005726.5,NM_001172697.1,NM_001172696.1,NM_001172695.1	,,,	0,50,6209	A1A1,A1R,RR		0.3998,0.3987,0.3994	,,,	,,,		50,12468				SO:0001628	intergenic_variant	10102				regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity	g.chr12:58177051_58177052insG	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58177055_58177055dupG						RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000323833.8_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000540550.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000550559.1_Frame_Shift_Ins_p.GG72fs|RP11-571M6.15_ENST00000471530.1_Frame_Shift_Ins_p.G87fs|TSFM_ENST00000548851.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000543727.1_Frame_Shift_Ins_p.GG72fs	p.GG72fs	NM_005726.5	NP_005717.3	P43897	EFTS_HUMAN			2	429_430	+	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		72					Q9H749|Q9Y3W2	Frame_Shift_Ins	INS	ENST00000300209.8	37	c.216_217insG	CCDS8957.1																																																																																				0.569	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		12	2786						12	2786	---	---	---	---
AVIL	10677	broad.mit.edu	37	12	58204896	58204896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:58204896delC	ENST00000257861.3	-	4	783	c.353delG	c.(352-354)ggtfs	p.G118fs	AVIL_ENST00000537081.1_Frame_Shift_Del_p.G111fs	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	118	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGAGGCGACACCCCCCTGCTT	0.512																																						ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(331-333)gtfs		advillin							204.0	168.0	180.0					12																	58204896		2203	4300	6503	SO:0001589	frameshift_variant	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58204896delC	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.353delG	12.37:g.58204896delC	ENSP00000257861:p.Gly118fs					AVIL_ENST00000257861.3_Frame_Shift_Del_p.G118fs	p.G111fs			O75366	AVIL_HUMAN			4	331	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		118			Core (By similarity).|Polyphosphoinositide binding (By similarity).		B2RAU7|Q2NKM9	Frame_Shift_Del	DEL	ENST00000257861.3	37	c.332delG	CCDS8959.1																																																																																				0.512	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		7	1043						7	1043	---	---	---	---
IRF2BPL	64207	broad.mit.edu	37	14	77493762	77493767	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs553703325|rs556445214|rs200317113	byFrequency	TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr14:77493762_77493767delTGCTGC	ENST00000238647.3	-	1	1267_1272	c.369_374delGCAGCA	c.(367-375)cagcagcaa>caa	p.123_125QQQ>Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	123	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GAgctgttgttgctgctgctgctgct	0.714														4658	0.930112	0.9297	0.9769	5008	,	,		7189	0.872		0.9712	False		,,,				2504	0.9151					ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(367-375)caa>ca		interferon regulatory factor 2 binding protein-like																																				SO:0001651	inframe_deletion	64207					nucleus		g.chr14:77493762_77493767delTGCTGC	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.369_374delGCAGCA	14.37:g.77493768_77493773delTGCTGC	ENSP00000238647:p.Gln125_Gln126del						p.QQQ123del	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1267_1272	-			123			Poly-Gln.		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL	ENST00000238647.3	37	c.369_374delGCAGCA	CCDS9854.1																																																																																				0.714	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		3	3						3	3	---	---	---	---
AMN	81693	broad.mit.edu	37	14	103396394	103396394	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr14:103396394delG	ENST00000299155.5	+	9	1010	c.977delG	c.(976-978)cggfs	p.R326fs		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	326					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGGCTGGCCCGGGCCCTCCTG	0.761																																						ENST00000299155.5																			0				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6						c.(976-978)cgfs		amnion associated transmembrane protein	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						5.0	6.0	6.0					14																	103396394		1899	3782	5681	SO:0001589	frameshift_variant	81693				lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane		g.chr14:103396394delG	AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"""amnionless homolog (mouse)"""			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7		ENST00000299155.5:c.977delG	14.37:g.103396394delG	ENSP00000299155:p.Arg326fs						p.R326fs	NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN		Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	9	1010	+			326					Q6UX83	Frame_Shift_Del	DEL	ENST00000299155.5	37	c.977delG	CCDS9977.1																																																																																				0.761	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415704.1			2	4						2	4	---	---	---	---
PCSK1N	27344	broad.mit.edu	37	X	48690745	48690745	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:48690745delG	ENST00000218230.5	-	2	221	c.121delC	c.(121-123)cgcfs	p.R41fs	PCSK1N_ENST00000478242.1_5'UTR	NM_013271.2	NP_037403.1	Q9UHG2	PCSK1_HUMAN	proprotein convertase subtilisin/kexin type 1 inhibitor	41	ProSAAS(1-180). {ECO:0000250}.				neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)	endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)										CTTAGGCCGCGGGGCTCCTGC	0.682																																						ENST00000218230.5																			0											c.(121-123)gcfs		proprotein convertase subtilisin/kexin type 1 inhibitor							2.0	2.0	2.0					X																	48690745		1369	2677	4046	SO:0001589	frameshift_variant	27344				neuropeptide signaling pathway	extracellular space|soluble fraction	receptor binding	g.chrX:48690745delG	AF181562	CCDS14307.1	Xp11.23	2008-07-28			ENSG00000102109	ENSG00000102109			17301	protein-coding gene	gene with protein product		300399				10632593	Standard	NM_013271		Approved	SAAS	uc004dkz.4	Q9UHG2	OTTHUMG00000034502	ENST00000218230.5:c.121delC	X.37:g.48690745delG	ENSP00000218230:p.Arg41fs					PCSK1N_ENST00000476838.1_Intron	p.R41fs	NM_013271.2	NP_037403.1	Q9UHG2	PCSK1_HUMAN			2	221	-			41			ProSAAS(1-180) (By similarity).		Q4VC04	Frame_Shift_Del	DEL	ENST00000218230.5	37	c.121delC	CCDS14307.1																																																																																				0.682	PCSK1N-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083444.1	NM_013271		2	4						2	4	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65414952	65414952	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:65414952delG	ENST00000343002.2	+	8	2046	c.1382delG	c.(1381-1383)cggfs	p.R461fs	HEPH_ENST00000441993.2_Frame_Shift_Del_p.R464fs|HEPH_ENST00000374727.3_Frame_Shift_Del_p.R464fs|HEPH_ENST00000419594.1_Frame_Shift_Del_p.R464fs|HEPH_ENST00000336279.5_Frame_Shift_Del_p.R194fs|HEPH_ENST00000519389.1_Frame_Shift_Del_p.R515fs			Q9BQS7	HEPH_HUMAN	hephaestin	461	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCAGTGATCCGGGCTGAGGTG	0.502																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1543-1545)cgfs		hephaestin							77.0	72.0	74.0					X																	65414952		2203	4300	6503	SO:0001589	frameshift_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65414952delG	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1382delG	X.37:g.65414952delG	ENSP00000343939:p.Arg461fs					HEPH_ENST00000343002.2_Frame_Shift_Del_p.R461fs|HEPH_ENST00000336279.5_Frame_Shift_Del_p.R194fs|HEPH_ENST00000441993.2_Frame_Shift_Del_p.R464fs|HEPH_ENST00000374727.3_Frame_Shift_Del_p.R464fs|HEPH_ENST00000419594.1_Frame_Shift_Del_p.R464fs	p.R515fs			Q9BQS7	HEPH_HUMAN			9	1723	+			461			Plastocyanin-like 3.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Frame_Shift_Del	DEL	ENST00000343002.2	37	c.1544delG																																																																																					0.502	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		25	48						25	48	---	---	---	---
