#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KANK4	163782	broad.mit.edu	37	1	62739491	62739491	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:62739491C>T	ENST00000371153.4	-	3	1663	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	429						cytoplasm (GO:0005737)		p.D429N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ATGCCCTTATCACACGACTCC	0.547																																						ENST00000371153.4																			1	Substitution - Missense(1)	p.D429N(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(1285-1287)Gat>Aat		KN motif and ankyrin repeat domains 4							212.0	194.0	200.0					1																	62739491		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62739491C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1285G>A	1.37:g.62739491C>T	ENSP00000360195:p.Asp429Asn					KANK4_ENST00000354381.3_Intron	p.D429N	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			3	1663	-			429					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.1285G>A	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222322	0.58560	.	.	ENSG00000132854	ENST00000371153	T	0.58797	0.31	5.67	5.67	0.87782	.	0.000000	0.41712	D	0.000833	T	0.74275	0.3695	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.75233	-0.3390	10	0.59425	D	0.04	-30.3832	17.5554	0.87888	0.0:1.0:0.0:0.0	.	429	Q5T7N3	KANK4_HUMAN	N	429	ENSP00000360195:D429N	ENSP00000360195:D429N	D	-	1	0	KANK4	62512079	0.999000	0.42202	0.984000	0.44739	0.030000	0.12068	5.172000	0.65003	2.677000	0.91161	0.561000	0.74099	GAT		0.547	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		6	224	6	224	---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91781959	91781959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:91781959C>A	ENST00000370425.3	-	26	2985	c.2887G>T	c.(2887-2889)Gaa>Taa	p.E963*	HFM1_ENST00000294696.5_Nonsense_Mutation_p.E195*|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E642*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	963	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E963*(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AATTCAAGTTCCCTTGCATCT	0.303																																						ENST00000370425.3																			1	Substitution - Nonsense(1)	p.E963*(1)	prostate(1)	breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(2887-2889)Gaa>Taa		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							83.0	85.0	84.0					1																	91781959		2202	4290	6492	SO:0001587	stop_gained	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91781959C>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2887G>T	1.37:g.91781959C>A	ENSP00000359454:p.Glu963*					HFM1_ENST00000294696.5_Nonsense_Mutation_p.E195*|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E642*	p.E963*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	26	2985	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	963			SEC63.		B1B0B6|Q8N9Q0	Nonsense_Mutation	SNP	ENST00000370425.3	37	c.2887G>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	39	7.414675	0.98269	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	.	.	.	5.07	2.13	0.27403	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	8.4151	0.32666	0.0:0.7299:0.1274:0.1427	.	.	.	.	X	963;195;642;647	.	ENSP00000294696:E195X	E	-	1	0	HFM1	91554547	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	3.662000	0.54510	0.152000	0.19188	0.557000	0.71058	GAA		0.303	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		7	86	7	86	---	---	---	---
ITGB1BP1	9270	broad.mit.edu	37	2	9558813	9558813	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr2:9558813C>T	ENST00000360635.3	-	3	910	c.14G>A	c.(13-15)gGc>gAc	p.G5D	ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.G5D			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	5					activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)	p.G5D(1)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TCGTTTTTTGCCCTTGCGAAA	0.393																																						ENST00000360635.3																			1	Substitution - Missense(1)	p.G5D(1)	prostate(1)	kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8						c.(13-15)gGc>gAc		integrin beta 1 binding protein 1							301.0	290.0	294.0					2																	9558813		2203	4300	6503	SO:0001583	missense	9270				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding	g.chr2:9558813C>T	AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"""integrin cytoplasmic domain-associated protein 1"", ""integrin cytoplasmic domain-associated protein 1-beta"", ""integrin cytoplasmic domain-associated protein 1-alpha"", ""bodenin"""	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.14G>A	2.37:g.9558813C>T	ENSP00000353850:p.Gly5Asp					ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.G5D	p.G5D			O14713	ITBP1_HUMAN		Epithelial(75;0.23)	3	910	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		5					D6W4Y9|O14714|Q53RS0	Missense_Mutation	SNP	ENST00000360635.3	37	c.14G>A	CCDS1662.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292098	0.59976	.	.	ENSG00000119185	ENST00000360635;ENST00000238091;ENST00000355346;ENST00000359712;ENST00000488451;ENST00000456913;ENST00000492079;ENST00000494563;ENST00000467606;ENST00000484735;ENST00000460001;ENST00000497105	.	.	.	5.54	5.54	0.83059	.	0.048386	0.85682	D	0.000000	T	0.60405	0.2266	N	0.14661	0.345	0.48452	D	0.999653	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.62560	0.904;0.845;0.904	T	0.65471	-0.6160	9	0.54805	T	0.06	-41.9665	18.4694	0.90767	0.0:1.0:0.0:0.0	.	5;5;5	A8MPU2;O14713-2;O14713	.;.;ITBP1_HUMAN	D	5	.	ENSP00000238091:G5D	G	-	2	0	ITGB1BP1	9476264	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.854000	0.48325	2.600000	0.87896	0.655000	0.94253	GGC		0.393	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314623.2	NM_004763, NM_022334		5	231	5	231	---	---	---	---
SIX2	10736	broad.mit.edu	37	2	45233549	45233549	+	Silent	SNP	C	C	T	rs371909390		TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr2:45233549C>T	ENST00000303077.6	-	2	955	c.636G>A	c.(634-636)tcG>tcA	p.S212S		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	212					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S212S(2)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTCATCCTCCGAGCTGCCTA	0.632																																						ENST00000303077.6																			2	Substitution - coding silent(2)	p.S212S(2)	prostate(1)|lung(1)	endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(634-636)tcG>tcA		SIX homeobox 2		C		1,4405	2.1+/-5.4	0,1,2202	120.0	118.0	119.0		636	-9.1	0.6	2		119	0,8600		0,0,4300	no	coding-synonymous	SIX2	NM_016932.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		212/292	45233549	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45233549C>T	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.636G>A	2.37:g.45233549C>T							p.S212S	NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN			2	955	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	212					Q9BXH7	Silent	SNP	ENST00000303077.6	37	c.636G>A	CCDS1822.1																																																																																				0.632	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			39	105	39	105	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220331957	220331957	+	Silent	SNP	C	C	T	rs372494202	byFrequency	TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr2:220331957C>T	ENST00000312358.7	+	10	3075	c.2943C>T	c.(2941-2943)gcC>gcT	p.A981A	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	981	Ig-like 4.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A981A(2)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACGTGGGGGCCGGGGAGATGG	0.692											OREG0004000	type=REGULATORY REGION|Gene=APEG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C|||	4	0.000798722	0.0	0.0	5008	,	,		16003	0.0		0.001	False		,,,				2504	0.0031					ENST00000312358.7																			2	Substitution - coding silent(2)	p.A981A(2)	prostate(2)	breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(2941-2943)gcC>gcT		SPEG complex locus		C		0,4014		0,0,2007	58.0	70.0	66.0		2943	3.9	1.0	2		66	4,8272		0,4,4134	no	coding-synonymous	SPEG	NM_005876.4		0,4,6141	TT,TC,CC		0.0483,0.0,0.0325		981/3268	220331957	4,12286	2007	4138	6145	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220331957C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2943C>T	2.37:g.220331957C>T			OREG0004000	type=REGULATORY REGION|Gene=APEG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2265	SPEG_ENST00000485813.1_3'UTR	p.A981A	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	10	3075	+		Renal(207;0.0183)	981			Ig-like 4.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.2943C>T	CCDS42824.1																																																																																				0.692	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		57	104	57	104	---	---	---	---
DCBLD2	131566	broad.mit.edu	37	3	98519475	98519475	+	Silent	SNP	A	A	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr3:98519475A>C	ENST00000326840.6	-	15	2168	c.1806T>G	c.(1804-1806)gtT>gtG	p.V602V	DCBLD2_ENST00000326857.9_Silent_p.V616V	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	602					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.V602V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TCAGGTGATTAACTTCGCTGC	0.507																																						ENST00000326840.6																			1	Substitution - coding silent(1)	p.V602V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.(1804-1806)gtT>gtG		discoidin, CUB and LCCL domain containing 2							216.0	212.0	213.0					3																	98519475		2061	4202	6263	SO:0001819	synonymous_variant	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98519475A>C		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1806T>G	3.37:g.98519475A>C						DCBLD2_ENST00000326857.9_Silent_p.V616V	p.V602V	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			15	2168	-			602					B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Silent	SNP	ENST00000326840.6	37	c.1806T>G	CCDS46878.1																																																																																				0.507	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		3	153	3	153	---	---	---	---
PFN2	5217	broad.mit.edu	37	3	149686232	149686232	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr3:149686232C>A	ENST00000239940.7	-	2	490	c.238G>T	c.(238-240)Gtc>Ttc	p.V80F	PFN2_ENST00000498307.1_Missense_Mutation_p.V31F|PFN2_ENST00000481275.1_Missense_Mutation_p.V31F|PFN2_ENST00000489155.1_Missense_Mutation_p.V31F|PFN2_ENST00000494827.1_Missense_Mutation_p.V31F|PFN2_ENST00000497148.1_Missense_Mutation_p.V31F|PFN2_ENST00000481767.1_Missense_Mutation_p.V31F|PFN2_ENST00000490975.1_Missense_Mutation_p.V80F|PFN2_ENST00000452853.2_Missense_Mutation_p.V80F|PFN2_ENST00000423691.2_Missense_Mutation_p.V80F|PFN2_ENST00000461868.1_Missense_Mutation_p.V80F|AC117395.1_ENST00000593416.1_5'Flank|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000475518.1_Missense_Mutation_p.V31F			P35080	PROF2_HUMAN	profilin 2	80					actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.V80F(2)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCACCATCGACGTATAGACTA	0.473																																						ENST00000239940.7																			2	Substitution - Missense(2)	p.V80F(2)	prostate(2)	large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						c.(238-240)Gtc>Ttc		profilin 2							239.0	244.0	242.0					3																	149686232		2203	4300	6503	SO:0001583	missense	5217				actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr3:149686232C>A	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683	ENST00000239940.7:c.238G>T	3.37:g.149686232C>A	ENSP00000239940:p.Val80Phe					PFN2_ENST00000481275.1_Missense_Mutation_p.V31F|PFN2_ENST00000498307.1_Missense_Mutation_p.V31F|PFN2_ENST00000490975.1_Missense_Mutation_p.V80F|PFN2_ENST00000452853.2_Missense_Mutation_p.V80F|PFN2_ENST00000489155.1_Missense_Mutation_p.V31F|PFN2_ENST00000494827.1_Missense_Mutation_p.V31F|PFN2_ENST00000461868.1_Missense_Mutation_p.V80F|PFN2_ENST00000497148.1_Missense_Mutation_p.V31F|PFN2_ENST00000475518.1_Missense_Mutation_p.V31F|PFN2_ENST00000481767.1_Missense_Mutation_p.V31F|PFN2_ENST00000423691.2_Missense_Mutation_p.V80F|PFN2_ENST00000461930.1_3'UTR	p.V80F			P35080	PROF2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	490	-			80					B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	Missense_Mutation	SNP	ENST00000239940.7	37	c.238G>T	CCDS3148.1	.	.	.	.	.	.	.	.	.	.	.	19.29	3.798517	0.70567	.	.	ENSG00000070087	ENST00000452853;ENST00000239940;ENST00000423691;ENST00000481767;ENST00000494827;ENST00000490975;ENST00000497148;ENST00000475518;ENST00000481275;ENST00000498307;ENST00000489155;ENST00000461868	D;D;D;D;D;D;D;D;D;D;D;D	0.87029	-2.14;-2.14;-2.2;-2.18;-2.18;-2.07;-2.18;-2.18;-2.18;-2.18;-2.18;-2.08	5.28	5.28	0.74379	.	0.308452	0.34802	N	0.003661	D	0.89556	0.6749	L	0.52573	1.65	0.36053	D	0.840911	D;D;P;P	0.62365	0.974;0.991;0.938;0.853	P;P;B;B	0.60117	0.672;0.869;0.439;0.266	D	0.92039	0.5639	10	0.56958	D	0.05	.	12.2831	0.54776	0.0:0.9221:0.0:0.0779	.	80;274;80;31	G5E9Q6;D3DNI2;P35080;C9J0J7	.;.;PROF2_HUMAN;.	F	80;80;80;31;31;80;31;31;31;31;31;80	ENSP00000410464:V80F;ENSP00000239940:V80F;ENSP00000408283:V80F;ENSP00000420417:V31F;ENSP00000418523:V31F;ENSP00000417351:V80F;ENSP00000417817:V31F;ENSP00000418142:V31F;ENSP00000418216:V31F;ENSP00000420202:V31F;ENSP00000420504:V31F;ENSP00000420244:V80F	ENSP00000239940:V80F	V	-	1	0	PFN2	151168922	0.972000	0.33761	0.972000	0.41901	0.972000	0.66771	2.761000	0.47589	2.444000	0.82710	0.655000	0.94253	GTC		0.473	PFN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356873.2	NM_002628		70	190	70	190	---	---	---	---
SKIV2L2	23517	broad.mit.edu	37	5	54642959	54642959	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr5:54642959A>C	ENST00000230640.5	+	11	1481	c.1227A>C	c.(1225-1227)ttA>ttC	p.L409F	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L308F	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	409	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.L409F(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGACCAAATTAGATTTCAACA	0.269																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			1	Substitution - Missense(1)	p.L409F(1)	prostate(1)	NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1225-1227)ttA>ttC		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							85.0	91.0	89.0					5																	54642959		2203	4295	6498	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54642959A>C	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1227A>C	5.37:g.54642959A>C	ENSP00000230640:p.Leu409Phe					SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L308F	p.L409F	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			11	1481	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	409			Helicase C-terminal.		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.1227A>C	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473329	0.43942	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.42513	0.97;0.97	5.73	3.38	0.38709	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.41373	0.1156	M	0.67625	2.065	0.58432	D	0.999999	B;B	0.26318	0.146;0.054	B;B	0.31337	0.128;0.068	T	0.28808	-1.0032	10	0.59425	D	0.04	-8.1629	8.0593	0.30623	0.7065:0.0:0.2935:0.0	.	308;409	F5H7E2;P42285	.;SK2L2_HUMAN	F	409;308	ENSP00000230640:L409F;ENSP00000442583:L308F	ENSP00000230640:L409F	L	+	3	2	SKIV2L2	54678716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.768000	0.26590	0.463000	0.27118	0.528000	0.53228	TTA		0.269	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			27	68	27	68	---	---	---	---
ZNF366	167465	broad.mit.edu	37	5	71739880	71739880	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr5:71739880C>A	ENST00000318442.5	-	5	2428	c.1938G>T	c.(1936-1938)gaG>gaT	p.E646D	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	646	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.E646D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGGACAGATCCTCGGGTGTGC	0.632																																						ENST00000318442.5																			1	Substitution - Missense(1)	p.E646D(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1936-1938)gaG>gaT		zinc finger protein 366							119.0	130.0	126.0					5																	71739880		2203	4300	6503	SO:0001583	missense	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71739880C>A	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1938G>T	5.37:g.71739880C>A	ENSP00000313158:p.Glu646Asp						p.E646D	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	5	2428	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	646					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.1938G>T	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187733	0.38609	.	.	ENSG00000178175	ENST00000318442	T	0.08458	3.09	5.35	0.497	0.16902	.	1.689920	0.02849	N	0.128940	T	0.05410	0.0143	N	0.14661	0.345	0.09310	N	0.999998	B	0.14438	0.01	B	0.11329	0.006	T	0.39522	-0.9610	10	0.59425	D	0.04	-3.5611	0.9776	0.01429	0.146:0.2409:0.3132:0.2999	.	646	Q8N895	ZN366_HUMAN	D	646	ENSP00000313158:E646D	ENSP00000313158:E646D	E	-	3	2	ZNF366	71775636	0.961000	0.32948	0.022000	0.16811	0.066000	0.16364	0.153000	0.16323	0.166000	0.19597	-0.126000	0.14955	GAG		0.632	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			5	284	5	284	---	---	---	---
ZNF366	167465	broad.mit.edu	37	5	71756812	71756812	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr5:71756812G>A	ENST00000318442.5	-	2	1002	c.512C>T	c.(511-513)cCc>cTc	p.P171L		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	171					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTAGGGCGTGGGCAGGAATGG	0.642																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(511-513)cCc>cTc		zinc finger protein 366							102.0	108.0	106.0					5																	71756812		2203	4300	6503	SO:0001583	missense	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756812G>A	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.512C>T	5.37:g.71756812G>A	ENSP00000313158:p.Pro171Leu						p.P171L	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1002	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	171					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.512C>T	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	G	9.033	0.987829	0.18966	.	.	ENSG00000178175	ENST00000318442	T	0.08546	3.08	5.92	5.92	0.95590	.	0.193133	0.37669	N	0.001993	T	0.05868	0.0153	L	0.27053	0.805	0.45452	D	0.99842	P	0.38922	0.651	B	0.29942	0.109	T	0.48490	-0.9031	10	0.26408	T	0.33	-36.7853	13.2389	0.59985	0.0:0.0:0.7387:0.2613	.	171	Q8N895	ZN366_HUMAN	L	171	ENSP00000313158:P171L	ENSP00000313158:P171L	P	-	2	0	ZNF366	71792568	1.000000	0.71417	0.894000	0.35097	0.067000	0.16453	4.815000	0.62634	2.813000	0.96785	0.561000	0.74099	CCC		0.642	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			5	182	5	182	---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140261920	140261920	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr5:140261920G>T	ENST00000289272.2	+	1	67	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	PCDHA13_ENST00000409494.1_Missense_Mutation_p.A23S|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	23					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A23S(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCTCGCAGCCTGGGAGAC	0.602																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			1	Substitution - Missense(1)	p.A23S(1)	prostate(1)	NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(67-69)Gcc>Tcc									115.0	121.0	119.0					5																	140261920		2203	4300	6503	SO:0001583	missense	56136							g.chr5:140261920G>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.67G>T	5.37:g.140261920G>T	ENSP00000289272:p.Ala23Ser					PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A23S|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.A23S	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	67	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.67G>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	3.300	-0.143138	0.06669	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.50548	0.74;0.8	5.4	-1.87	0.07737	.	.	.	.	.	T	0.32526	0.0832	L	0.42487	1.325	0.09310	N	1	B;B;B	0.20550	0.027;0.027;0.046	B;B;B	0.18263	0.014;0.015;0.021	T	0.24154	-1.0168	9	0.22109	T	0.4	.	5.6641	0.17684	0.185:0.0:0.4373:0.3777	.	23;23;23	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	S	23	ENSP00000386821:A23S;ENSP00000289272:A23S	ENSP00000289272:A23S	A	+	1	0	PCDHA13	140242104	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.922000	0.04004	-0.375000	0.07955	-0.314000	0.08810	GCC		0.602	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		5	246	5	246	---	---	---	---
RWDD2A	112611	broad.mit.edu	37	6	83905528	83905528	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:83905528A>T	ENST00000369724.4	+	3	621	c.416A>T	c.(415-417)aAg>aTg	p.K139M	PGM3_ENST00000283977.4_5'Flank|PGM3_ENST00000513973.1_5'Flank|RWDD2A_ENST00000539997.1_Missense_Mutation_p.K85M|PGM3_ENST00000506587.1_5'Flank|PGM3_ENST00000512866.1_5'Flank	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	139								p.K139M(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		CTGAACAGAAAGCTTGTATAT	0.433																																						ENST00000369724.4																			1	Substitution - Missense(1)	p.K139M(1)	prostate(1)	cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5						c.(415-417)aAg>aTg		RWD domain containing 2A							141.0	131.0	134.0					6																	83905528		2203	4300	6503	SO:0001583	missense	112611							g.chr6:83905528A>T	BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"""RWD domain containing 2"""	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109	ENST00000369724.4:c.416A>T	6.37:g.83905528A>T	ENSP00000358739:p.Lys139Met					RWDD2A_ENST00000539997.1_Missense_Mutation_p.K85M	p.K139M	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.045)	3	621	+		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)	139					B4DIQ3|E1P548|Q2M3R3|Q96FH1	Missense_Mutation	SNP	ENST00000369724.4	37	c.416A>T	CCDS4998.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.396353	0.42512	.	.	ENSG00000013392	ENST00000369724;ENST00000539997	.	.	.	5.38	4.23	0.50019	.	0.071427	0.56097	D	0.000021	T	0.48677	0.1513	L	0.44542	1.39	0.46298	D	0.998979	P	0.50819	0.939	P	0.54346	0.749	T	0.51834	-0.8655	9	0.49607	T	0.09	-27.6909	11.0994	0.48166	0.9285:0.0:0.0715:0.0	.	139	Q9UIY3	RWD2A_HUMAN	M	139;85	.	ENSP00000358739:K139M	K	+	2	0	RWDD2A	83962247	0.927000	0.31430	0.957000	0.39632	0.068000	0.16541	2.633000	0.46519	1.070000	0.40811	0.533000	0.62120	AAG		0.433	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041348.2	NM_033411		42	69	42	69	---	---	---	---
TNFAIP3	7128	broad.mit.edu	37	6	138197133	138197133	+	Splice_Site	SNP	A	A	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:138197133A>G	ENST00000237289.4	+	5	701	c.635A>G	c.(634-636)gAc>gGc	p.D212G	TNFAIP3_ENST00000485192.1_3'UTR	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	212	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.D212G(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTTTGAACAGACAAAATGCTA	0.438			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4				Rec	yes		6	6q23	7128	"""D, N, F"""	"""tumor necrosis factor, alpha-induced protein 3"""			L			"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""		26	Whole gene deletion(25)|Substitution - Missense(1)	p.0?(25)|p.D212G(1)	haematopoietic_and_lymphoid_tissue(25)|prostate(1)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.(634-636)gAc>gGc		tumor necrosis factor, alpha-induced protein 3							84.0	90.0	88.0					6																	138197133		2203	4300	6503	SO:0001630	splice_region_variant	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138197133A>G	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.635-1A>G	6.37:g.138197133A>G						TNFAIP3_ENST00000485192.1_3'UTR	p.D212G	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	5	701	+	Breast(32;0.135)|Colorectal(23;0.24)		212			OTU.|TRAF-binding.		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Splice_Site	SNP	ENST00000237289.4	37	c.635A>G	CCDS5187.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.8|27.8	4.867637|4.867637	0.91587|0.91587	.|.	.|.	ENSG00000118503|ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000535332;ENST00000544646|ENST00000539356	T|.	0.27890|.	1.64|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Ovarian tumour, otubain (2);|.	0.046228|.	0.85682|.	D|.	0.000000|.	T|T	0.72236|0.72236	0.3435|0.3435	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.77469|0.77469	-0.2576|-0.2576	10|6	0.87932|0.87932	D|D	0|0	.|.	14.9203|14.9203	0.70832|0.70832	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	212|.	P21580|.	TNAP3_HUMAN|.	G|A	212|212	ENSP00000237289:D212G|.	ENSP00000237289:D212G|ENSP00000439665:T212A	D|T	+|+	2|1	0|0	TNFAIP3|TNFAIP3	138238826|138238826	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	8.604000|8.604000	0.90877|0.90877	2.266000|2.266000	0.75297|0.75297	0.528000|0.528000	0.53228|0.53228	GAC|ACA		0.438	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1		Missense_Mutation	20	78	20	78	---	---	---	---
QKI	9444	broad.mit.edu	37	6	163983069	163983069	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:163983069A>G	ENST00000361752.3	+	5	1153	c.602A>G	c.(601-603)aAt>aGt	p.N201S	QKI_ENST00000453779.2_Missense_Mutation_p.N201S|QKI_ENST00000275262.7_Missense_Mutation_p.N201S|QKI_ENST00000392127.2_Missense_Mutation_p.N201S|QKI_ENST00000424802.3_Missense_Mutation_p.N201S|QKI_ENST00000361195.2_Missense_Mutation_p.N201S	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	201					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.N201S(2)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GCGATTCTGAATGGCACCTAC	0.448																																						ENST00000361752.3																			2	Substitution - Missense(2)	p.N201S(2)	prostate(2)	central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.(601-603)aAt>aGt		QKI, KH domain containing, RNA binding							111.0	104.0	107.0					6																	163983069		2203	4300	6503	SO:0001583	missense	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163983069A>G	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.602A>G	6.37:g.163983069A>G	ENSP00000355094:p.Asn201Ser					QKI_ENST00000275262.7_Missense_Mutation_p.N201S|QKI_ENST00000424802.3_Missense_Mutation_p.N201S|QKI_ENST00000392127.2_Missense_Mutation_p.N201S|QKI_ENST00000453779.2_Missense_Mutation_p.N201S|QKI_ENST00000361195.2_Missense_Mutation_p.N201S	p.N201S	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	5	1153	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	201					Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	c.602A>G	CCDS5285.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.899523	0.72754	.	.	ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802;ENST00000537041;ENST00000544823	T;T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	M	0.79475	2.455	0.80722	D	1	D;P;D;D;D;D	0.76494	0.999;0.897;0.997;0.999;0.999;0.997	P;B;P;P;P;P	0.62491	0.871;0.21;0.85;0.903;0.903;0.85	T	0.14896	-1.0456	10	0.87932	D	0	.	15.7655	0.78123	1.0:0.0:0.0:0.0	.	201;201;201;201;201;201	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8	.;QKI_HUMAN;.;.;.;.	S	201;201;201;201;201;201;146;146	ENSP00000408775:N201S;ENSP00000275262:N201S;ENSP00000375973:N201S;ENSP00000355094:N201S;ENSP00000354867:N201S;ENSP00000408382:N201S;ENSP00000440991:N146S;ENSP00000440599:N146S	ENSP00000275262:N201S	N	+	2	0	QKI	163903059	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	8.880000	0.92407	2.270000	0.75569	0.528000	0.53228	AAT		0.448	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		20	41	20	41	---	---	---	---
EVX1	2128	broad.mit.edu	37	7	27283058	27283058	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr7:27283058G>A	ENST00000496902.4	+	1	895	c.409G>A	c.(409-411)Gag>Aag	p.E137K	EVX1_ENST00000535619.1_Intron|RP1-170O19.17_ENST00000523608.2_lincRNA|EVX1-AS_ENST00000519050.1_RNA|EVX1_ENST00000222761.3_Intron|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	137					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E137K(1)		kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CGGGAACGCCGAGTACCAGCA	0.657																																						ENST00000496902.4																			1	Substitution - Missense(1)	p.E137K(1)	prostate(1)	kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						c.(409-411)Gag>Aag		even-skipped homeobox 1							21.0	22.0	22.0					7																	27283058		2190	4279	6469	SO:0001583	missense	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27283058G>A		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.409G>A	7.37:g.27283058G>A	ENSP00000419266:p.Glu137Lys					EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_Intron|EVX1_ENST00000222761.3_Intron	p.E137K			P49640	EVX1_HUMAN			1	895	+			137					A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	c.409G>A	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883046	0.51908	.	.	ENSG00000106038	ENST00000496902	D	0.91521	-2.86	5.38	5.38	0.77491	.	0.076854	0.53938	D	0.000052	D	0.86447	0.5935	L	0.57536	1.79	0.80722	D	1	P	0.38597	0.639	B	0.26864	0.074	D	0.85212	0.1021	10	0.12766	T	0.61	-17.2371	19.1196	0.93357	0.0:0.0:1.0:0.0	.	137	P49640	EVX1_HUMAN	K	137	ENSP00000419266:E137K	ENSP00000419266:E137K	E	+	1	0	EVX1	27249583	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.815000	0.75242	2.521000	0.84997	0.561000	0.74099	GAG		0.657	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			4	41	4	41	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38305254	38305254	+	RNA	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr7:38305254G>A	ENST00000443402.2	-	0	25					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TGGGCTTGGGGGAAACATCTG	0.378																																						ENST00000443402.2																			0																				143.0	154.0	150.0					7																	38305254		1798	4075	5873			6966							g.chr7:38305254G>A	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38305254G>A								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	25	-									RNA	SNP	ENST00000443402.2	37																																																																																						0.378	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		81	196	81	196	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55533728	55533728	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr8:55533728G>A	ENST00000220676.1	+	2	350	c.202G>A	c.(202-204)Gat>Aat	p.D68N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	68	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.D68N(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGCTCTGCTGGATAACTTGTC	0.597																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Substitution - Missense(1)	p.D68N(1)	prostate(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(202-204)Gat>Aat		retinitis pigmentosa 1 (autosomal dominant)							131.0	102.0	112.0					8																	55533728		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533728G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.202G>A	8.37:g.55533728G>A	ENSP00000220676:p.Asp68Asn						p.D68N	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	350	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	68			Doublecortin 1.			Missense_Mutation	SNP	ENST00000220676.1	37	c.202G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513479	0.96402	.	.	ENSG00000104237	ENST00000220676	D	0.92805	-3.11	5.25	5.25	0.73442	Doublecortin domain (5);	0.000000	0.64402	D	0.000012	D	0.95153	0.8429	L	0.54863	1.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95502	0.8578	10	0.72032	D	0.01	-22.9087	18.8395	0.92177	0.0:0.0:1.0:0.0	.	68	P56715	RP1_HUMAN	N	68	ENSP00000220676:D68N	ENSP00000220676:D68N	D	+	1	0	RP1	55696281	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.790000	0.99075	2.450000	0.82876	0.585000	0.79938	GAT		0.597	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		4	133	4	133	---	---	---	---
ANO3	63982	broad.mit.edu	37	11	26620449	26620449	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:26620449G>T	ENST00000256737.3	+	16	2427	c.1575G>T	c.(1573-1575)gaG>gaT	p.E525D	ANO3_ENST00000537978.1_Missense_Mutation_p.E509D|ANO3_ENST00000525139.1_Missense_Mutation_p.E509D|ANO3_ENST00000531568.1_Missense_Mutation_p.E379D	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	525					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.E525D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ACAAGATGGAGATTGTAAATC	0.383																																						ENST00000256737.3																			1	Substitution - Missense(1)	p.E525D(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1573-1575)gaG>gaT		anoctamin 3							78.0	69.0	72.0					11																	26620449		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26620449G>T	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1575G>T	11.37:g.26620449G>T	ENSP00000256737:p.Glu525Asp					ANO3_ENST00000525139.1_Missense_Mutation_p.E509D|ANO3_ENST00000537978.1_Missense_Mutation_p.E509D|ANO3_ENST00000531568.1_Missense_Mutation_p.E379D	p.E525D	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			16	2427	+			525					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1575G>T	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951100	0.53186	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.59	5.98	1.62	0.23740	.	0.103857	0.64402	D	0.000003	T	0.76169	0.3950	L	0.54323	1.7	0.52099	D	0.999941	D;P	0.71674	0.998;0.868	D;P	0.76071	0.987;0.644	T	0.72388	-0.4309	10	0.44086	T	0.13	.	8.0373	0.30499	0.4981:0.0:0.5019:0.0	.	427;525	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	D	509;509;525;427;379	ENSP00000440737:E509D;ENSP00000432576:E509D;ENSP00000256737:E525D;ENSP00000432394:E379D	ENSP00000256737:E525D	E	+	3	2	ANO3	26577025	0.999000	0.42202	0.461000	0.27105	0.561000	0.35649	1.659000	0.37387	0.447000	0.26695	-0.140000	0.14226	GAG		0.383	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		9	31	9	31	---	---	---	---
KHNYN	23351	broad.mit.edu	37	14	24901309	24901309	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr14:24901309G>T	ENST00000251343.5	+	3	981	c.842G>T	c.(841-843)tGg>tTg	p.W281L	KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.W281L|CBLN3_ENST00000555436.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000556842.1_Missense_Mutation_p.W281L			O15037	KHNYN_HUMAN	KH and NYN domain containing	281							RNA binding (GO:0003723)	p.W281L(1)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAAGAGGCGTGGGAGAGAGAA	0.622											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251343.5																			1	Substitution - Missense(1)	p.W281L(1)	prostate(1)	kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.(841-843)tGg>tTg		KH and NYN domain containing							77.0	80.0	79.0					14																	24901309		2203	4300	6503	SO:0001583	missense	23351							g.chr14:24901309G>T	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.842G>T	14.37:g.24901309G>T	ENSP00000251343:p.Trp281Leu		OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_ENST00000556842.1_Missense_Mutation_p.W281L|KHNYN_ENST00000553935.1_Missense_Mutation_p.W281L	p.W281L			O15037	KHNYN_HUMAN			3	981	+			281					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.842G>T	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	8.536	0.872113	0.17322	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.21031	2.03;2.03;2.03	4.44	2.58	0.30949	.	2.551980	0.01127	N	0.005919	T	0.16727	0.0402	N	0.24115	0.695	0.19300	N	0.999974	B;B	0.23128	0.08;0.047	B;B	0.19946	0.027;0.027	T	0.19910	-1.0291	10	0.42905	T	0.14	.	5.936	0.19165	0.1058:0.1941:0.7001:0.0	.	322;281	D3DS77;O15037	.;KHNYN_HUMAN	L	281	ENSP00000251343:W281L;ENSP00000451106:W281L;ENSP00000450799:W281L	ENSP00000251343:W281L	W	+	2	0	KHNYN	23971149	0.994000	0.37717	0.522000	0.27862	0.712000	0.41017	1.689000	0.37700	0.493000	0.27837	0.462000	0.41574	TGG		0.622	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			3	34	3	34	---	---	---	---
SIX1	6495	broad.mit.edu	37	14	61115639	61115639	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr14:61115639G>A	ENST00000247182.6	-	1	541	c.269C>T	c.(268-270)gCg>gTg	p.A90V	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	90					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A90V(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CACGTAATGCGCCTTCAGCCA	0.627																																						ENST00000247182.6																			1	Substitution - Missense(1)	p.A90V(1)	prostate(1)	breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13						c.(268-270)gCg>gTg		SIX homeobox 1							108.0	110.0	110.0					14																	61115639		2203	4300	6503	SO:0001583	missense	6495				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:61115639G>A	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.269C>T	14.37:g.61115639G>A	ENSP00000247182:p.Ala90Val					SIX1_ENST00000554986.1_Intron	p.A90V	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	1	541	-			90					Q53Y16|Q96H64	Missense_Mutation	SNP	ENST00000247182.6	37	c.269C>T	CCDS9748.1	.	.	.	.	.	.	.	.	.	.	G	35	5.562863	0.96527	.	.	ENSG00000126778	ENST00000247182	D	0.90324	-2.65	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.95408	0.8509	M	0.93763	3.455	0.80722	D	1	D	0.67145	0.996	P	0.51453	0.67	D	0.96147	0.9105	10	0.87932	D	0	-16.4904	19.6964	0.96028	0.0:0.0:1.0:0.0	.	90	Q15475	SIX1_HUMAN	V	90	ENSP00000247182:A90V	ENSP00000247182:A90V	A	-	2	0	SIX1	60185392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.651000	0.98493	2.748000	0.94277	0.655000	0.94253	GCG		0.627	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			6	189	6	189	---	---	---	---
TSHR	7253	broad.mit.edu	37	14	81422160	81422160	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr14:81422160C>T	ENST00000541158.2	+	2	458	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	TSHR_ENST00000298171.2_Missense_Mutation_p.R46C|TSHR_ENST00000554263.1_Missense_Mutation_p.R46C|TSHR_ENST00000342443.6_Missense_Mutation_p.R46C|TSHR_ENST00000554435.1_Missense_Mutation_p.R46C|TSHR_ENST00000557096.1_3'UTR			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	46					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.R46C(3)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGATATTCAACGCATCCCCAG	0.607			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		3	Substitution - Missense(3)	p.R46C(3)	prostate(3)	breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(136-138)Cgc>Tgc		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						141.0	116.0	124.0					14																	81422160		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81422160C>T	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.136C>T	14.37:g.81422160C>T	ENSP00000441235:p.Arg46Cys					TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000554435.1_Missense_Mutation_p.R46C|TSHR_ENST00000554263.1_Missense_Mutation_p.R46C|TSHR_ENST00000342443.6_Missense_Mutation_p.R46C|TSHR_ENST00000298171.2_Missense_Mutation_p.R46C	p.R46C			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	2	458	+			46					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.136C>T	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332042	0.60853	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000342443;ENST00000298171;ENST00000554263;ENST00000554435	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	5.2	-1.15	0.09709	.	0.952558	0.08724	N	0.903036	T	0.73016	0.3533	N	0.19112	0.55	0.34896	D	0.746012	P;P;P;P	0.52577	0.954;0.724;0.92;0.604	P;B;P;B	0.49332	0.607;0.301;0.511;0.158	T	0.70378	-0.4888	10	0.49607	T	0.09	.	3.3754	0.07235	0.5162:0.2508:0.0:0.233	.	46;46;46;46	G3V2A9;F5GYU5;P16473-2;P16473	.;.;.;TSHR_HUMAN	C	46	ENSP00000441235:R46C;ENSP00000340113:R46C;ENSP00000298171:R46C;ENSP00000451202:R46C;ENSP00000450549:R46C	ENSP00000298171:R46C	R	+	1	0	TSHR	80491913	0.003000	0.15002	0.063000	0.19743	0.992000	0.81027	-0.256000	0.08757	-0.085000	0.12573	0.655000	0.94253	CGC		0.607	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		31	92	31	92	---	---	---	---
FOXL1	2300	broad.mit.edu	37	16	86612373	86612373	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr16:86612373C>T	ENST00000320241.3	+	1	259	c.44C>T	c.(43-45)tCg>tTg	p.S15L		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	15					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S15L(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CTGGCCGCCTCGCCCATGCTG	0.726																																					NSCLC(163;308 2020 10889 11476 18208)	ENST00000320241.3																			1	Substitution - Missense(1)	p.S15L(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						c.(43-45)tCg>tTg		forkhead box L1							33.0	37.0	36.0					16																	86612373		2194	4290	6484	SO:0001583	missense	2300				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr16:86612373C>T	AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"""Forkhead boxes"""	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.44C>T	16.37:g.86612373C>T	ENSP00000326272:p.Ser15Leu						p.S15L	NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN			1	259	+			15					Q17RR1|Q9H242	Missense_Mutation	SNP	ENST00000320241.3	37	c.44C>T	CCDS10959.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862240	0.32884	.	.	ENSG00000176678	ENST00000320241	D	0.94184	-3.37	4.39	3.42	0.39159	.	0.227088	0.36167	U	0.002748	D	0.84406	0.5465	N	0.14661	0.345	0.20764	N	0.999855	D	0.54772	0.968	B	0.38264	0.269	T	0.76913	-0.2783	10	0.33940	T	0.23	.	12.7024	0.57041	0.1661:0.8339:0.0:0.0	.	15	Q12952	FOXL1_HUMAN	L	15	ENSP00000326272:S15L	ENSP00000326272:S15L	S	+	2	0	FOXL1	85169874	0.972000	0.33761	0.995000	0.50966	0.126000	0.20510	4.492000	0.60334	1.029000	0.39812	0.563000	0.77884	TCG		0.726	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2	NM_005250		18	73	18	73	---	---	---	---
GLP2R	9340	broad.mit.edu	37	17	9739734	9739734	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:9739734T>A	ENST00000262441.5	+	3	837	c.324T>A	c.(322-324)caT>caA	p.H108Q	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	108					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)	p.H108Q(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GTTGGCCTCATTCTTCTCCTG	0.428																																						ENST00000262441.5																			1	Substitution - Missense(1)	p.H108Q(1)	prostate(1)	endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(322-324)caT>caA		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						356.0	322.0	334.0					17																	9739734		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9739734T>A	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.324T>A	17.37:g.9739734T>A	ENSP00000262441:p.His108Gln					GLP2R_ENST00000574745.1_5'UTR	p.H108Q	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			3	837	+			108					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.324T>A	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.758004	0.69648	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.52295	0.67	5.58	3.4	0.38934	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (2);	0.000000	0.39407	N	0.001372	T	0.52964	0.1767	L	0.42529	1.33	0.43317	D	0.995335	D	0.58620	0.983	D	0.67900	0.954	T	0.46652	-0.9176	10	0.31617	T	0.26	.	7.2482	0.26133	0.0:0.244:0.0:0.756	.	108	O95838	GLP2R_HUMAN	Q	108;83;108	ENSP00000262441:H108Q	ENSP00000262441:H108Q	H	+	3	2	GLP2R	9680459	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	1.342000	0.33919	0.965000	0.38133	0.460000	0.39030	CAT		0.428	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			15	140	15	140	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10356642	10356642	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:10356642T>G	ENST00000255381.2	-	24	3048	c.2938A>C	c.(2938-2940)Aaa>Caa	p.K980Q	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	980					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.K980Q(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGAGGTTTTTCACCTTTAGA	0.438																																						ENST00000255381.2																			1	Substitution - Missense(1)	p.K980Q(1)	prostate(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2938-2940)Aaa>Caa		myosin, heavy chain 4, skeletal muscle							144.0	133.0	137.0					17																	10356642		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10356642T>G		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2938A>C	17.37:g.10356642T>G	ENSP00000255381:p.Lys980Gln					CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	p.K980Q	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			24	3048	-			980						Missense_Mutation	SNP	ENST00000255381.2	37	c.2938A>C	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427210	0.62733	.	.	ENSG00000141048	ENST00000255381	D	0.95622	-3.76	5.19	4.08	0.47627	.	0.000000	0.39834	U	0.001253	D	0.98277	0.9429	H	0.96662	3.86	0.50039	D	0.999844	D	0.69078	0.997	D	0.69479	0.964	D	0.98362	1.0549	10	0.87932	D	0	.	11.9508	0.52954	0.0:0.0:0.1457:0.8543	.	980	Q9Y623	MYH4_HUMAN	Q	980	ENSP00000255381:K980Q	ENSP00000255381:K980Q	K	-	1	0	MYH4	10297367	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.816000	0.86201	0.879000	0.35944	0.482000	0.46254	AAA		0.438	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		38	90	38	90	---	---	---	---
CCDC57	284001	broad.mit.edu	37	17	80129645	80129645	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:80129645T>C	ENST00000389641.4	-	12	1850	c.1814A>G	c.(1813-1815)gAt>gGt	p.D605G	CCDC57_ENST00000392343.3_Missense_Mutation_p.D605G|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Missense_Mutation_p.D605G			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	605								p.D605G(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTTTAAAGGATCCAACACATC	0.468																																						ENST00000389641.4																			2	Substitution - Missense(2)	p.D605G(2)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(1813-1815)gAt>gGt		coiled-coil domain containing 57							126.0	130.0	129.0					17																	80129645		1925	4129	6054	SO:0001583	missense	284001							g.chr17:80129645T>C	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1814A>G	17.37:g.80129645T>C	ENSP00000374292:p.Asp605Gly					CCDC57_ENST00000392347.1_Missense_Mutation_p.D605G|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.D605G	p.D605G			Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		12	1850	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		605					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.1814A>G		.	.	.	.	.	.	.	.	.	.	T	10.28	1.307980	0.23821	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343	T;T;T	0.23950	3.05;3.05;1.88	3.61	-0.0915	0.13661	.	0.802256	0.10584	N	0.657582	T	0.19446	0.0467	L	0.44542	1.39	0.09310	N	1	P;B	0.36535	0.557;0.004	B;B	0.36845	0.234;0.003	T	0.19418	-1.0306	10	0.62326	D	0.03	-3.5579	4.4716	0.11715	0.0:0.1135:0.4015:0.485	.	605;605	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	G	605;605;113;605	ENSP00000374292:D605G;ENSP00000376158:D605G;ENSP00000376154:D605G	ENSP00000315967:D113G	D	-	2	0	CCDC57	77722934	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.856000	0.27818	-0.055000	0.13244	0.459000	0.35465	GAT		0.468	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		5	92	5	92	---	---	---	---
ZNF799	90576	broad.mit.edu	37	19	12501649	12501649	+	Silent	SNP	T	T	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:12501649T>A	ENST00000430385.3	-	4	1763	c.1563A>T	c.(1561-1563)gtA>gtT	p.V521V	ZNF799_ENST00000419318.1_Silent_p.V489V|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	521					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.V308V(1)|p.V521V(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCTTTCATGTACTTTTAAGT	0.388																																						ENST00000419318.1																			2	Substitution - coding silent(2)	p.V308V(1)|p.V521V(1)	prostate(2)	breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1465-1467)gtA>gtT		zinc finger protein 799							91.0	94.0	93.0					19																	12501649		2198	4300	6498	SO:0001819	synonymous_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501649T>A	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1563A>T	19.37:g.12501649T>A						ZNF799_ENST00000430385.3_Silent_p.V521V|CTD-3105H18.14_ENST00000435033.1_Intron	p.V489V			Q96GE5	ZN799_HUMAN			4	2216	-			521						Silent	SNP	ENST00000430385.3	37	c.1467A>T	CCDS45989.1																																																																																				0.388	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		5	76	5	76	---	---	---	---
CCDC8	83987	broad.mit.edu	37	19	46915974	46915974	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:46915974T>C	ENST00000307522.3	-	1	867	c.94A>G	c.(94-96)Acc>Gcc	p.T32A		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	32					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.T32A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		gcttccttggtggcgggctta	0.637																																						ENST00000307522.3																			1	Substitution - Missense(1)	p.T32A(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(94-96)Acc>Gcc		coiled-coil domain containing 8							47.0	50.0	49.0					19																	46915974		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46915974T>C	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.94A>G	19.37:g.46915974T>C	ENSP00000303158:p.Thr32Ala						p.T32A	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	867	-			32					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.94A>G	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.439411	0.43326	.	.	ENSG00000169515	ENST00000307522;ENST00000540252	T	0.09630	2.96	3.6	2.58	0.30949	.	0.000000	0.41823	D	0.000820	T	0.11665	0.0284	M	0.64997	1.995	0.28034	N	0.934006	P	0.35507	0.506	B	0.36959	0.237	T	0.09796	-1.0658	10	0.54805	T	0.06	-18.4885	5.5527	0.17099	0.0:0.126:0.0:0.874	.	32	Q9H0W5	CCDC8_HUMAN	A	32	ENSP00000303158:T32A	ENSP00000303158:T32A	T	-	1	0	CCDC8	51607814	1.000000	0.71417	0.965000	0.40720	0.875000	0.50365	2.344000	0.44010	0.747000	0.32809	0.402000	0.26972	ACC		0.637	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		3	78	3	78	---	---	---	---
TPX2	22974	broad.mit.edu	37	20	30363692	30363692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr20:30363692G>T	ENST00000300403.6	+	8	1159	c.631G>T	c.(631-633)Gag>Tag	p.E211*	TPX2_ENST00000340513.4_Nonsense_Mutation_p.E211*	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	211					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)	p.E211*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AAAAAGTACTGAGGAGCAAGA	0.418																																						ENST00000340513.4																			1	Substitution - Nonsense(1)	p.E211*(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(631-633)Gag>Tag		TPX2, microtubule-associated							79.0	84.0	82.0					20																	30363692		2203	4300	6503	SO:0001587	stop_gained	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30363692G>T	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.631G>T	20.37:g.30363692G>T	ENSP00000300403:p.Glu211*					TPX2_ENST00000300403.6_Nonsense_Mutation_p.E211*	p.E211*			Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		8	1159	+			211					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Nonsense_Mutation	SNP	ENST00000300403.6	37	c.631G>T	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	41	9.141501	0.99078	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	.	.	.	5.02	5.02	0.67125	.	0.061102	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-16.2082	17.8732	0.88817	0.0:0.0:1.0:0.0	.	.	.	.	X	211	.	ENSP00000300403:E211X	E	+	1	0	TPX2	29827353	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.775000	0.85489	2.773000	0.95371	0.655000	0.94253	GAG		0.418	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			24	54	24	54	---	---	---	---
ADA	100	broad.mit.edu	37	20	43257807	43257807	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr20:43257807C>A	ENST00000372874.4	-	3	233	c.99G>T	c.(97-99)agG>agT	p.R33S	ADA_ENST00000464097.1_5'Flank|ADA_ENST00000537820.1_Missense_Mutation_p.R33S	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	33					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)	p.R33S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CGATCCCTCTCCTCCTGGAAA	0.602									Adenosine Deaminase Deficiency																													ENST00000372874.4																			1	Substitution - Missense(1)	p.R33S(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(97-99)agG>agT		adenosine deaminase	Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)						94.0	68.0	77.0					20																	43257807		2203	4300	6503	SO:0001583	missense	100	Adenosine Deaminase Deficiency	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	g.chr20:43257807C>A	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.99G>T	20.37:g.43257807C>A	ENSP00000361965:p.Arg33Ser					ADA_ENST00000537820.1_Missense_Mutation_p.R33S	p.R33S	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	233	-		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	33					Q53F92|Q6LA59	Missense_Mutation	SNP	ENST00000372874.4	37	c.99G>T	CCDS13335.1	.	.	.	.	.	.	.	.	.	.	C	9.648	1.140702	0.21205	.	.	ENSG00000196839	ENST00000372874;ENST00000537820	D;D	0.97066	-4.23;-4.23	5.84	2.78	0.32641	Adenosine/AMP deaminase (1);	0.238681	0.48286	D	0.000189	D	0.94295	0.8167	L	0.54965	1.715	0.38399	D	0.94561	B	0.16396	0.017	B	0.24006	0.05	D	0.89350	0.3660	10	0.37606	T	0.19	-13.2223	7.532	0.27689	0.0:0.5666:0.0:0.4334	.	33	P00813	ADA_HUMAN	S	33	ENSP00000361965:R33S;ENSP00000441818:R33S	ENSP00000361965:R33S	R	-	3	2	ADA	42691221	0.999000	0.42202	0.989000	0.46669	0.076000	0.17211	0.461000	0.21940	0.338000	0.23692	0.561000	0.74099	AGG		0.602	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2	NM_000022		14	66	14	66	---	---	---	---
RC3H1	149041	broad.mit.edu	37	1	173941766	173941767	+	Splice_Site	INS	-	-	TA			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:173941766_173941767insTA	ENST00000367696.2	-	8	1454		c.e8-1		RC3H1_ENST00000367694.2_Splice_Site|RC3H1_ENST00000258349.4_Splice_Site			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1						B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGAGGAGCATCTATACAACCAA	0.361																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.e8-1		ring finger and CCCH-type domains 1																																				SO:0001630	splice_region_variant	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173941766_173941767insTA	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1103-1->TA	1.37:g.173941769_173941770dupTA						RC3H1_ENST00000258349.4_Splice_Site|RC3H1_ENST00000367694.2_Splice_Site				Q5TC82	RC3H1_HUMAN			8	1454	-								B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Splice_Site	INS	ENST00000367696.2	37		CCDS30940.1																																																																																				0.361	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071	Intron	11	69	11	69	---	---	---	---
ERCC6	2074	broad.mit.edu	37	10	50736488	50736492	+	Frame_Shift_Del	DEL	ATCTA	ATCTA	-			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr10:50736488_50736492delATCTA	ENST00000355832.5	-	4	701_705	c.623_627delTAGAT	c.(622-627)ctagatfs	p.LD208fs	PGBD3_ENST00000603152.1_Frame_Shift_Del_p.LD208fs|ERCC6-PGBD3_ENST00000447839.2_Frame_Shift_Del_p.LD208fs|ERCC6-PGBD3_ENST00000515869.1_Frame_Shift_Del_p.LD208fs	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	208					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GACTGGCGTGATCTAGTTCAATTTT	0.459								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(622-627)ctagatfs	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6																																				SO:0001589	frameshift_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50736488_50736492delATCTA	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.623_627delTAGAT	10.37:g.50736488_50736492delATCTA	ENSP00000348089:p.Leu208fs					ERCC6-PGBD3_ENST00000447839.2_Frame_Shift_Del_p.LD208fs|ERCC6-PGBD3_ENST00000515869.1_Frame_Shift_Del_p.LD208fs|PGBD3_ENST00000603152.1_Frame_Shift_Del_p.LD208fs	p.LD208fs	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			4	701_705	-			208					D3DX94|Q5W0L9	Frame_Shift_Del	DEL	ENST00000355832.5	37	c.623_627delTAGAT	CCDS7229.1																																																																																				0.459	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		16	56	16	56	---	---	---	---
KLK2	3817	broad.mit.edu	37	19	51379825	51379826	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:51379825_51379826delAA	ENST00000325321.3	+	3	529_530	c.304_305delAA	c.(304-306)aatfs	p.N102fs	KLK2_ENST00000358049.4_Frame_Shift_Del_p.N102fs|KLK2_ENST00000391810.2_5'UTR|AC037199.1_ENST00000594218.1_5'Flank			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	102	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CCCGCTCTACAATATGAGCCTT	0.554			T	ETV4	prostate																																	ENST00000325321.3				Dom	yes		19	19q13.41	3817	T	kallikrein-related peptidase 2			E	ETV4		prostate	KLK2/ETV1(3)|KLK2/ETV4(2)	0				large_intestine(3)|lung(6)|ovary(1)|skin(1)	11						c.(304-306)aatfs		kallikrein-related peptidase 2																																				SO:0001589	frameshift_variant	3817				proteolysis		serine-type endopeptidase activity	g.chr19:51379825_51379826delAA	M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.304_305delAA	19.37:g.51379825_51379826delAA	ENSP00000313581:p.Asn102fs					KLK2_ENST00000391810.2_5'UTR|KLK2_ENST00000358049.4_Frame_Shift_Del_p.N102fs	p.N102fs			P20151	KLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)	3	529_530	+		all_neural(266;0.026)	102			Peptidase S1.		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Frame_Shift_Del	DEL	ENST00000325321.3	37	c.304_305delAA	CCDS12808.1																																																																																				0.554	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	NM_005551.3		15	34	15	34	---	---	---	---
SFI1	9814	broad.mit.edu	37	22	32007282	32007282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr22:32007282delG	ENST00000400288.2	+	23	2513	c.2408delG	c.(2407-2409)aggfs	p.R803fs	SFI1_ENST00000443011.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000432498.1_Frame_Shift_Del_p.R772fs|SFI1_ENST00000414585.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000443326.1_Frame_Shift_Del_p.R721fs|SFI1_ENST00000400289.1_Frame_Shift_Del_p.R721fs|SFI1_ENST00000540643.1_Frame_Shift_Del_p.R748fs	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	803					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CAGTGTGTCAGGAAGAGGGTG	0.622																																						ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(2314-2316)aggfs		Sfi1 homolog, spindle assembly associated (yeast)							28.0	34.0	32.0					22																	32007282		2117	4233	6350	SO:0001589	frameshift_variant	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32007282delG	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2408delG	22.37:g.32007282delG	ENSP00000383145:p.Arg803fs					SFI1_ENST00000400288.2_Frame_Shift_Del_p.R803fs|SFI1_ENST00000540643.1_Frame_Shift_Del_p.R748fs|SFI1_ENST00000414585.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000443326.1_Frame_Shift_Del_p.R721fs|SFI1_ENST00000443011.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000400289.1_Frame_Shift_Del_p.R721fs	p.R772fs	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			22	2708	+			803					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Frame_Shift_Del	DEL	ENST00000400288.2	37	c.2315delG	CCDS43004.1																																																																																				0.622	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		10	26	10	26	---	---	---	---
