#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
HRNR	388697	broad.mit.edu	37	1	152192307	152192307	+	Missense_Mutation	SNP	G	G	T	rs200860192		TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr1:152192307G>T	ENST00000368801.2	-	3	1873	c.1798C>A	c.(1798-1800)Cac>Aac	p.H600N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	600					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.H600N(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGATCCGTGTTGACCGTAG	0.557																																						ENST00000368801.2																			1	Substitution - Missense(1)	p.H600N(1)	prostate(1)	autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1798-1800)Cac>Aac		hornerin							267.0	239.0	248.0					1																	152192307		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192307G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1798C>A	1.37:g.152192307G>T	ENSP00000357791:p.His600Asn					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H600N	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1873	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		600					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1798C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	6.613	0.481421	0.12581	.	.	ENSG00000197915	ENST00000368801	T	0.04809	3.55	4.27	2.36	0.29203	.	.	.	.	.	T	0.00906	0.0030	N	0.24115	0.695	0.09310	N	1	P	0.42827	0.791	B	0.38755	0.281	T	0.41197	-0.9522	9	0.10902	T	0.67	.	6.5891	0.22636	0.0974:0.0:0.7238:0.1788	.	600	Q86YZ3	HORN_HUMAN	N	600	ENSP00000357791:H600N	ENSP00000357791:H600N	H	-	1	0	HRNR	150458931	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.018000	0.12568	0.435000	0.26365	-0.195000	0.12781	CAC		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		47	427	47	427	---	---	---	---
PCDHA4	56144	broad.mit.edu	37	5	140187163	140187163	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr5:140187163C>A	ENST00000530339.1	+	1	391	c.391C>A	c.(391-393)Ccg>Acg	p.P131T	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.P131T|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P131T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	131	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P131T(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATAACCCGCCGGTGTTCCC	0.592																																						ENST00000530339.1																			2	Substitution - Missense(2)	p.P131T(2)	prostate(2)	breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(391-393)Ccg>Acg									83.0	86.0	85.0					5																	140187163		2203	4300	6503	SO:0001583	missense	56144							g.chr5:140187163C>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.391C>A	5.37:g.140187163C>A	ENSP00000435300:p.Pro131Thr					PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.P131T|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P131T	p.P131T	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	391	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.391C>A	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	15.40	2.823717	0.50739	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	D;D;D	0.81499	-1.5;-1.5;-1.5	4.62	4.62	0.57501	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.40469	U	0.001098	D	0.94424	0.8206	H	0.99197	4.465	0.46542	D	0.999098	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97193	0.9859	10	0.87932	D	0	.	17.8071	0.88605	0.0:1.0:0.0:0.0	.	131;131;131	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	T	131	ENSP00000423470:P131T;ENSP00000349344:P131T;ENSP00000435300:P131T	ENSP00000349344:P131T	P	+	1	0	PCDHA4	140167347	1.000000	0.71417	0.916000	0.36221	0.096000	0.18686	7.565000	0.82337	2.284000	0.76573	0.563000	0.77884	CCG		0.592	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		4	150	4	150	---	---	---	---
CD109	135228	broad.mit.edu	37	6	74491004	74491004	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr6:74491004C>A	ENST00000287097.5	+	17	2037	c.1925C>A	c.(1924-1926)aCa>aAa	p.T642K	CD109_ENST00000437994.2_Missense_Mutation_p.T642K|CD109_ENST00000422508.2_Missense_Mutation_p.T565K			Q6YHK3	CD109_HUMAN	CD109 molecule	642	Bait region (approximate). {ECO:0000250}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.T642K(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGGTATTGACAGATGCAAAC	0.318																																						ENST00000437994.2																			2	Substitution - Missense(2)	p.T642K(2)	prostate(2)	NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1924-1926)aCa>aAa		CD109 molecule							158.0	150.0	153.0					6																	74491004		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74491004C>A	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1925C>A	6.37:g.74491004C>A	ENSP00000287097:p.Thr642Lys					CD109_ENST00000287097.5_Missense_Mutation_p.T642K|CD109_ENST00000422508.2_Missense_Mutation_p.T565K	p.T642K	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			17	2356	+			642			Bait region (approximate) (By similarity).		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.1925C>A	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595567	0.46318	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.30981	1.51;1.72;1.51	4.48	3.6	0.41247	.	0.055528	0.64402	D	0.000001	T	0.24044	0.0582	N	0.19112	0.55	0.44424	D	0.997342	D;D;D;D	0.76494	0.997;0.997;0.999;0.991	D;D;D;P	0.67382	0.951;0.945;0.933;0.883	T	0.09862	-1.0655	10	0.87932	D	0	.	9.8406	0.40996	0.1563:0.693:0.1507:0.0	.	565;642;642;642	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	K	642;565;642	ENSP00000388062:T642K;ENSP00000404475:T565K;ENSP00000287097:T642K	ENSP00000287097:T642K	T	+	2	0	CD109	74547725	0.995000	0.38212	0.993000	0.49108	0.268000	0.26511	3.616000	0.54174	1.240000	0.43803	0.650000	0.86243	ACA		0.318	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		3	72	3	72	---	---	---	---
MKLN1	4289	broad.mit.edu	37	7	131172448	131172449	+	Missense_Mutation	DNP	TC	TC	GA			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr7:131172448_131172449TC>GA	ENST00000352689.6	+	18	2209_2210	c.2169_2170TC>GA	c.(2167-2172)acTCct>acGAct	p.P724T	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.P632T	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	724					signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.P724T(1)|p.T723T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ACAGCATGACTCCTCCTAAAGG	0.431																																						ENST00000352689.6																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.T723T(1)|p.P724T(1)	prostate(2)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(2167-2169)acT>acG|c.(2170-2172)Cct>Act		muskelin 1, intracellular mediator containing kelch motifs																																				SO:0001583	missense	4289				signal transduction	cytoplasm	protein binding	g.chr7:131172448T>G|g.chr7:131172449C>A	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	Exception_encountered	7.37:g.131172448_131172449delinsGA	ENSP00000323527:p.Pro724Thr					MKLN1_ENST00000421797.2_Silent_p.T631T|MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.P632T|MKLN1_ENST00000498778.1_3'UTR	p.T723T|p.P724T	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			18	2209|2210	+	Melanoma(18;0.162)		723|724					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Silent|Missense_Mutation	SNP	ENST00000352689.6	37	c.2169T>G|c.2170C>A	CCDS34754.1																																																																																				0.431	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		12	56	12	56	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52320734	52320734	+	Silent	SNP	G	G	T			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr8:52320734G>T	ENST00000356297.4	-	17	3550	c.3450C>A	c.(3448-3450)atC>atA	p.I1150I	PXDNL_ENST00000543296.1_Silent_p.I1150I	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1150					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.I349I(1)|p.I1150I(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATATGGTGGGATCCCGTGGT	0.448																																						ENST00000356297.4																			2	Substitution - coding silent(2)	p.I349I(1)|p.I1150I(1)	prostate(2)	NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(3448-3450)atC>atA		peroxidasin homolog (Drosophila)-like							96.0	97.0	97.0					8																	52320734		1854	4106	5960	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52320734G>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3450C>A	8.37:g.52320734G>T						PXDNL_ENST00000543296.1_Silent_p.I1150I	p.I1150I	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN			17	3550	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1150					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.3450C>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	0.051	-1.250394	0.01469	.	.	ENSG00000147485	ENST00000522933	.	.	.	3.82	-0.651	0.11454	.	.	.	.	.	T	0.43678	0.1258	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23833	-1.0177	4	.	.	.	.	3.8635	0.09005	0.2003:0.0:0.3378:0.4618	.	.	.	.	Y	269	.	.	S	-	2	0	PXDNL	52483287	0.115000	0.22152	0.000000	0.03702	0.002000	0.02628	-0.805000	0.04530	-0.218000	0.10018	-0.136000	0.14681	TCC		0.448	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		20	163	20	163	---	---	---	---
RASEF	158158	broad.mit.edu	37	9	85597623	85597623	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr9:85597623G>A	ENST00000376447.3	-	17	2452	c.2192C>T	c.(2191-2193)tCa>tTa	p.S731L		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	731					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.S731L(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CATCTGTGGTGACTTTTTGGA	0.413																																						ENST00000376447.3																			1	Substitution - Missense(1)	p.S731L(1)	prostate(1)	NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(2191-2193)tCa>tTa		RAS and EF-hand domain containing							389.0	358.0	369.0					9																	85597623		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85597623G>A	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.2192C>T	9.37:g.85597623G>A	ENSP00000365630:p.Ser731Leu						p.S731L	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			17	2452	-			731					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.2192C>T	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905545	0.52333	.	.	ENSG00000165105	ENST00000376447	T	0.62232	0.04	5.05	5.05	0.67936	.	0.445847	0.22362	N	0.061066	T	0.52805	0.1757	L	0.29908	0.895	0.80722	D	1	B	0.25955	0.138	B	0.21917	0.037	T	0.53229	-0.8468	10	0.54805	T	0.06	.	17.2097	0.86927	0.0:0.0:1.0:0.0	.	731	Q8IZ41	RASEF_HUMAN	L	731	ENSP00000365630:S731L	ENSP00000365630:S731L	S	-	2	0	RASEF	84787443	1.000000	0.71417	0.279000	0.24732	0.831000	0.47069	5.775000	0.68915	2.360000	0.80028	0.591000	0.81541	TCA		0.413	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		22	178	22	178	---	---	---	---
KIF11	3832	broad.mit.edu	37	10	94390060	94390060	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr10:94390060A>G	ENST00000260731.3	+	12	1523	c.1433A>G	c.(1432-1434)gAa>gGa	p.E478G		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	478					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)	p.E478G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGTTAAAGAAGAATATATC	0.343																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			1	Substitution - Missense(1)	p.E478G(1)	prostate(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1432-1434)gAa>gGa		kinesin family member 11							67.0	66.0	66.0					10																	94390060		2203	4299	6502	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94390060A>G	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1433A>G	10.37:g.94390060A>G	ENSP00000260731:p.Glu478Gly						p.E478G	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			12	1523	+			478					A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.1433A>G	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	a	21.7	4.190339	0.78789	.	.	ENSG00000138160	ENST00000260731	T	0.75589	-0.95	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.85733	0.5765	M	0.79805	2.47	0.58432	D	0.999999	D	0.76494	0.999	D	0.66351	0.943	D	0.86674	0.1912	10	0.49607	T	0.09	.	15.6352	0.76946	1.0:0.0:0.0:0.0	.	478	P52732	KIF11_HUMAN	G	478	ENSP00000260731:E478G	ENSP00000260731:E478G	E	+	2	0	KIF11	94380040	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	6.941000	0.75922	2.165000	0.68154	0.528000	0.53228	GAA		0.343	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		7	46	7	46	---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105798253	105798253	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr10:105798253G>A	ENST00000353479.5	-	45	3271	c.2981C>T	c.(2980-2982)cCg>cTg	p.P994L	COL17A1_ENST00000369733.3_Missense_Mutation_p.P949L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	994	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P994L(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGCCCTGGCGGGCCTGACAC	0.597																																						ENST00000353479.5																			2	Substitution - Missense(2)	p.P994L(2)	prostate(1)|endometrium(1)	NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(2980-2982)cCg>cTg		collagen, type XVII, alpha 1							62.0	71.0	68.0					10																	105798253		2200	4294	6494	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105798253G>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2981C>T	10.37:g.105798253G>A	ENSP00000340937:p.Pro994Leu					COL17A1_ENST00000369733.3_Missense_Mutation_p.P949L	p.P994L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	45	3271	-		Colorectal(252;0.103)|Breast(234;0.122)	994			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.2981C>T	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541454	0.65085	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.91945	-1.76;-2.94	4.81	4.81	0.61882	.	0.000000	0.43579	D	0.000547	D	0.93743	0.8000	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91884	0.5518	10	0.23302	T	0.38	-9.4754	14.8213	0.70074	0.0:0.0:1.0:0.0	.	994	Q9UMD9	COHA1_HUMAN	L	994;949	ENSP00000340937:P994L;ENSP00000358748:P949L	ENSP00000340937:P994L	P	-	2	0	COL17A1	105788243	1.000000	0.71417	0.477000	0.27303	0.014000	0.08584	4.113000	0.57851	2.222000	0.72286	0.462000	0.41574	CCG		0.597	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		23	165	23	165	---	---	---	---
ARHGAP20	57569	broad.mit.edu	37	11	110450382	110450382	+	Silent	SNP	C	C	T			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr11:110450382C>T	ENST00000260283.4	-	16	3572	c.3288G>A	c.(3286-3288)agG>agA	p.R1096R	ARHGAP20_ENST00000533353.1_Silent_p.R1070R|ARHGAP20_ENST00000528829.1_Silent_p.R1060R|ARHGAP20_ENST00000527598.1_Silent_p.R1060R|ARHGAP20_ENST00000524756.1_Silent_p.R1073R|ARHGAP20_ENST00000529591.1_Silent_p.R639R|ARHGAP20_ENST00000357139.3_Silent_p.R1070R	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1096					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R1096R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CTTCAGCTGCCCTTAAGGGCA	0.522																																						ENST00000260283.4																			1	Substitution - coding silent(1)	p.R1096R(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(3286-3288)agG>agA		Rho GTPase activating protein 20							73.0	76.0	75.0					11																	110450382		2201	4298	6499	SO:0001819	synonymous_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110450382C>T	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.3288G>A	11.37:g.110450382C>T						ARHGAP20_ENST00000528829.1_Silent_p.R1060R|ARHGAP20_ENST00000529591.1_Silent_p.R639R|ARHGAP20_ENST00000357139.3_Silent_p.R1070R|ARHGAP20_ENST00000533353.1_Silent_p.R1070R|ARHGAP20_ENST00000527598.1_Silent_p.R1060R|ARHGAP20_ENST00000524756.1_Silent_p.R1073R	p.R1096R	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	3572	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	1096					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	SNP	ENST00000260283.4	37	c.3288G>A	CCDS31673.1																																																																																				0.522	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		4	139	4	139	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46243943	46243943	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr12:46243943A>T	ENST00000334344.6	+	15	2209	c.2037A>T	c.(2035-2037)caA>caT	p.Q679H	ARID2_ENST00000422737.1_Missense_Mutation_p.Q530H|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.Q289H|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	679					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q679H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTGTGGCACAAACTGTTTCAA	0.413			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		1	Substitution - Missense(1)	p.Q679H(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(2035-2037)caA>caT		AT rich interactive domain 2 (ARID, RFX-like)							146.0	140.0	142.0					12																	46243943		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46243943A>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2037A>T	12.37:g.46243943A>T	ENSP00000335044:p.Gln679His					ARID2_ENST00000444670.1_Missense_Mutation_p.Q289H|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.Q530H	p.Q679H	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	2209	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	679					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.2037A>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	16.29	3.080461	0.55753	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.32515	1.45	5.95	3.94	0.45596	.	0.325040	0.32002	N	0.006735	T	0.39306	0.1073	L	0.29908	0.895	0.80722	D	1	D;D;D	0.64830	0.994;0.994;0.992	D;D;D	0.78314	0.991;0.991;0.976	T	0.18871	-1.0323	10	0.54805	T	0.06	-3.6635	8.9844	0.35986	0.2514:0.0:0.7486:0.0	.	679;289;679	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	H	679;530;289	ENSP00000335044:Q679H	ENSP00000335044:Q679H	Q	+	3	2	ARID2	44530210	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.209000	0.32357	1.331000	0.45412	-0.408000	0.06270	CAA		0.413	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		17	125	17	125	---	---	---	---
RCBTB2	1102	broad.mit.edu	37	13	49076874	49076874	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr13:49076874C>A	ENST00000344532.3	-	11	1526	c.1103G>T	c.(1102-1104)cGc>cTc	p.R368L	RCBTB2_ENST00000430805.2_Missense_Mutation_p.R373L|RCBTB2_ENST00000544492.1_Missense_Mutation_p.R94L	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	368					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.R368L(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GGAGAGGAGGCGCCACGTGAC	0.577																																						ENST00000344532.3																			1	Substitution - Missense(1)	p.R368L(1)	prostate(1)	breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31						c.(1102-1104)cGc>cTc		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2							63.0	59.0	60.0					13																	49076874		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49076874C>A	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1103G>T	13.37:g.49076874C>A	ENSP00000345144:p.Arg368Leu					RCBTB2_ENST00000430805.2_Missense_Mutation_p.R373L|RCBTB2_ENST00000544492.1_Missense_Mutation_p.R94L	p.R368L	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	11	1526	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	368					B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.1103G>T	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056708	0.55325	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.75367	-0.02;-0.02;-0.93	5.59	5.59	0.84812	BTB/POZ fold (1);	0.043805	0.85682	D	0.000000	D	0.83741	0.5320	M	0.73598	2.24	0.80722	D	1	D;P;P;P	0.54772	0.968;0.802;0.91;0.802	P;P;P;P	0.55112	0.769;0.666;0.492;0.489	D	0.84182	0.0440	10	0.54805	T	0.06	.	19.956	0.97218	0.0:1.0:0.0:0.0	.	94;373;320;368	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	L	368;320;373;373;94	ENSP00000345144:R368L;ENSP00000389910:R373L;ENSP00000443862:R94L	ENSP00000345144:R368L	R	-	2	0	RCBTB2	47974875	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	4.525000	0.60559	2.788000	0.95919	0.557000	0.71058	CGC		0.577	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		15	106	15	106	---	---	---	---
RASA3	22821	broad.mit.edu	37	13	114780695	114780695	+	Silent	SNP	C	C	T			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr13:114780695C>T	ENST00000334062.7	-	14	1516	c.1395G>A	c.(1393-1395)aaG>aaA	p.K465K	RASA3_ENST00000389544.4_Silent_p.K433K	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	465	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.K465K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CCTGGAAGCGCTTGGCCGCCG	0.627																																						ENST00000334062.7																			1	Substitution - coding silent(1)	p.K465K(1)	prostate(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(1393-1395)aaG>aaA		RAS p21 protein activator 3							89.0	88.0	88.0					13																	114780695		2202	4300	6502	SO:0001819	synonymous_variant	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114780695C>T		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1395G>A	13.37:g.114780695C>T						RASA3_ENST00000389544.4_Silent_p.K433K	p.K465K	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		14	1516	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	465			Ras-GAP.		A6NL15|F8W6X8|Q8IUY2	Silent	SNP	ENST00000334062.7	37	c.1395G>A	CCDS32016.1																																																																																				0.627	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		5	145	5	145	---	---	---	---
ZNF585B	92285	broad.mit.edu	37	19	37677246	37677246	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr19:37677246G>C	ENST00000532828.2	-	5	1444	c.1193C>G	c.(1192-1194)aCa>aGa	p.T398R	ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.T343R|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T398R(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGATGCACTGTGAGTGCTGA	0.413																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			1	Substitution - Missense(1)	p.T398R(1)	prostate(1)	NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(1192-1194)aCa>aGa		zinc finger protein 585B							105.0	99.0	101.0					19																	37677246		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677246G>C	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1193C>G	19.37:g.37677246G>C	ENSP00000433773:p.Thr398Arg					ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.T343R|CTC-454I21.3_ENST00000585860.2_Intron	p.T398R	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1444	-			398					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.1193C>G	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296244	0.23650	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.35973	1.28;3.15	2.74	1.66	0.24008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38663	N	0.001614	T	0.24236	0.0587	N	0.11560	0.145	0.29119	N	0.880395	P;D	0.69078	0.894;0.997	B;P	0.52856	0.273;0.711	T	0.11916	-1.0568	10	0.23302	T	0.38	.	7.3754	0.26825	0.1439:0.0:0.8561:0.0	.	343;398	E9PQH3;Q52M93	.;Z585B_HUMAN	R	343;398	ENSP00000436774:T343R;ENSP00000433773:T398R	ENSP00000436774:T343R	T	-	2	0	ZNF585B	42369086	0.000000	0.05858	0.992000	0.48379	0.984000	0.73092	-0.611000	0.05622	0.461000	0.27071	0.455000	0.32223	ACA		0.413	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		3	91	3	91	---	---	---	---
DSN1	79980	broad.mit.edu	37	20	35399437	35399437	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr20:35399437C>T	ENST00000426836.1	-	3	566	c.194G>A	c.(193-195)tGt>tAt	p.C65Y	DSN1_ENST00000373740.3_Intron|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373750.4_Missense_Mutation_p.C65Y|DSN1_ENST00000373745.3_Missense_Mutation_p.C65Y|DSN1_ENST00000448110.2_Missense_Mutation_p.C49Y|DSN1_ENST00000373734.4_Intron	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	65					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)		p.C65Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				GCTGAGATCACAATTTCCCCC	0.478																																						ENST00000426836.1																			1	Substitution - Missense(1)	p.C65Y(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(193-195)tGt>tAt		DSN1, MIS12 kinetochore complex component							141.0	141.0	141.0					20																	35399437		2203	4300	6503	SO:0001583	missense	79980				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr20:35399437C>T	AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.194G>A	20.37:g.35399437C>T	ENSP00000389810:p.Cys65Tyr					DSN1_ENST00000373745.3_Missense_Mutation_p.C65Y|DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000448110.2_Missense_Mutation_p.C49Y|DSN1_ENST00000373750.4_Missense_Mutation_p.C65Y	p.C65Y	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN			3	566	-		Myeloproliferative disorder(115;0.00874)	65					B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	ENST00000426836.1	37	c.194G>A	CCDS13286.1	.	.	.	.	.	.	.	.	.	.	c	3.144	-0.175701	0.06421	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373750;ENST00000449595;ENST00000447406	.	.	.	5.11	0.768	0.18487	.	1.006700	0.07978	N	0.985140	T	0.23171	0.0560	L	0.29908	0.895	0.20196	N	0.999922	B	0.02656	0.0	B	0.01281	0.0	T	0.28299	-1.0048	9	0.02654	T	1	-6.0337	3.85	0.08951	0.0:0.5146:0.1816:0.3038	.	65	Q9H410	DSN1_HUMAN	Y	65;65;49;65;49;65	.	ENSP00000362850:C65Y	C	-	2	0	DSN1	34832851	0.394000	0.25246	0.484000	0.27391	0.365000	0.29674	0.219000	0.17641	0.320000	0.23234	-0.142000	0.14014	TGT		0.478	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		11	186	11	186	---	---	---	---
SUSD2	56241	broad.mit.edu	37	22	24581177	24581177	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr22:24581177G>C	ENST00000358321.3	+	6	1159	c.898G>C	c.(898-900)Gag>Cag	p.E300Q		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	300	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.E300Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GGAGGAGCTGGAGGATCAGCT	0.672																																						ENST00000358321.3																			1	Substitution - Missense(1)	p.E300Q(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(898-900)Gag>Cag		sushi domain containing 2							28.0	28.0	28.0					22																	24581177		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24581177G>C	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.898G>C	22.37:g.24581177G>C	ENSP00000351075:p.Glu300Gln						p.E300Q	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			6	1159	+			300			AMOP.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.898G>C	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007312	0.75046	.	.	ENSG00000099994	ENST00000358321	T	0.22945	1.93	4.27	4.27	0.50696	AMOP (3);	0.182147	0.46758	D	0.000261	T	0.45074	0.1324	M	0.77820	2.39	0.36156	D	0.847772	D	0.62365	0.991	P	0.59825	0.864	T	0.55302	-0.8162	10	0.32370	T	0.25	-18.4309	12.6244	0.56622	0.0:0.0:1.0:0.0	.	300	Q9UGT4	SUSD2_HUMAN	Q	300	ENSP00000351075:E300Q	ENSP00000351075:E300Q	E	+	1	0	SUSD2	22911177	1.000000	0.71417	0.911000	0.35937	0.561000	0.35649	7.216000	0.77974	2.102000	0.63906	0.437000	0.28790	GAG		0.672	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		10	46	10	46	---	---	---	---
