#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TCERG1	10915	broad.mit.edu	37	5	145890177	145890177	+	Nonsense_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.chr5:145890177C>A	ENST00000296702.5	+	22	3307	c.3269C>A	c.(3268-3270)tCg>tAg	p.S1090*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.S1069*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	1090					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.S1090*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCACAGCATCGGAGCCCACG	0.463																																						ENST00000296702.5																			1	Substitution - Nonsense(1)	p.S1090*(1)	prostate(1)	breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(3268-3270)tCg>tAg		transcription elongation regulator 1							78.0	74.0	76.0					5																	145890177		2203	4300	6503	SO:0001587	stop_gained	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145890177C>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.3269C>A	5.37:g.145890177C>A	ENSP00000296702:p.Ser1090*					TCERG1_ENST00000394421.2_Nonsense_Mutation_p.S1069*	p.S1090*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	3307	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	1090					Q2NKN2|Q59EA1	Nonsense_Mutation	SNP	ENST00000296702.5	37	c.3269C>A	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	38	7.181790	0.98118	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9243	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	1090;1069	.	ENSP00000296702:S1090X	S	+	2	0	TCERG1	145870370	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	5.960000	0.70348	2.937000	0.99478	0.650000	0.86243	TCG		0.463	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		3	97	1	0	0.115264	0.115264	0.121494	3	97				
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_ENST00000544492.1_Missense_Mutation_p.R94L|RCBTB2_ENST00000430805.2_Missense_Mutation_p.R373L	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	1	0	5.3912e-06	0.539581	6.37142e-06	15	106				
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_653252.3	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	1	0	1.96292e-10	0.592651	2.46948e-10	20	163				
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_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_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_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_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	1	0	9.52127e-25	0.870114	1.23776e-24	47	427				
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	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.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52.0	42.0	46.0					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2706Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	69	0	0	0	0.184627	0	3	69				
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	1	0	0.004672	0.115264	0.00520594	3	72				
NAB2	4665	broad.mit.edu	37	12	57485457	57485457	+	Silent	SNP	T	T	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.chr12:57485457T>C	ENST00000300131.3	+	2	1011	c.633T>C	c.(631-633)ccT>ccC	p.P211P	NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.P211P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	211					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.P211P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTCCCCCCCTGCAGGGGGAG	0.711																																						ENST00000300131.3																			3	Substitution - coding silent(3)	p.P211P(3)	prostate(1)|lung(1)|kidney(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(631-633)ccT>ccC		NGFI-A binding protein 2 (EGR1 binding protein 2)																																				SO:0001819	synonymous_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485457T>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.633T>C	12.37:g.57485457T>C						NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000342556.6_Silent_p.P211P	p.P211P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			2	1011	+			211					B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	c.633T>C	CCDS8930.1																																																																																				0.711	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		6	49	0	0	0	0.307466	0	6	49				
KPRP	448834	broad.mit.edu	37	1	152733157	152733157	+	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.chr1:152733157G>A	ENST00000606109.1	+	1	1121	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	KPRP_ENST00000368773.1_Missense_Mutation_p.A365T			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	365	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.A365T(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGGGGCGCCTCCTGCCC	0.662																																						ENST00000368773.1																			1	Substitution - Missense(1)	p.A365T(1)	prostate(1)	NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1093-1095)Gcc>Acc		keratinocyte proline-rich protein							60.0	62.0	61.0					1																	152733157		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733157G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1093G>A	1.37:g.152733157G>A	ENSP00000475216:p.Ala365Thr					KPRP_ENST00000606109.1_Missense_Mutation_p.A365T	p.A365T	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1151	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		365			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1093G>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	0.479	-0.880953	0.02530	.	.	ENSG00000203786	ENST00000368773	T	0.11930	2.73	4.62	-6.99	0.01605	.	0.929655	0.09000	N	0.863063	T	0.00998	0.0033	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42716	-0.9435	10	0.05436	T	0.98	0.0126	6.3376	0.21304	0.496:0.0:0.3045:0.1995	.	365	Q5T749	KPRP_HUMAN	T	365	ENSP00000357762:A365T	ENSP00000357762:A365T	A	+	1	0	KPRP	150999781	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	-0.811000	0.04500	-2.255000	0.00696	-1.598000	0.00824	GCC		0.662	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		10	79	0	0	0	0.335167	0	10	79				
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_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.Q289H	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_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.Q289H|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	0	0	0	0.500413	0	17	125				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		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.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			6	79	0	0	0	0.217242	0	6	79				
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	0	0	0	0.184627	0	5	145				
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	0	0	0	0.608945	0	23	165				
NR6A1	2649	broad.mit.edu	37	9	127316735	127316735	+	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.chr9:127316735C>T	ENST00000487099.2	-	3	414	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	NR6A1_ENST00000373584.3_Missense_Mutation_p.R82Q|NR6A1_ENST00000344523.4_Missense_Mutation_p.R86Q|NR6A1_ENST00000416460.2_Missense_Mutation_p.R82Q	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	86					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R86Q(1)		NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GCAAATGCTCCGCTTGAAAAA	0.527																																					Esophageal Squamous(192;272 2884 6208 20560)	ENST00000487099.2																			1	Substitution - Missense(1)	p.R86Q(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						c.(256-258)cGg>cAg		nuclear receptor subfamily 6, group A, member 1							141.0	124.0	130.0					9																	127316735		2203	4300	6503	SO:0001583	missense	2649				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:127316735C>T	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.257G>A	9.37:g.127316735C>T	ENSP00000420267:p.Arg86Gln					NR6A1_ENST00000373584.3_Missense_Mutation_p.R82Q|NR6A1_ENST00000344523.4_Missense_Mutation_p.R86Q|NR6A1_ENST00000416460.2_Missense_Mutation_p.R82Q	p.R86Q	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN			3	414	-			86					O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	ENST00000487099.2	37	c.257G>A	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	C	36	5.717555	0.96839	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	D;D;D;D;D	0.98958	-5.27;-5.27;-5.27;-5.27;-5.27	5.66	5.66	0.87406	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	H	0.99058	4.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.79784	0.991;0.993;0.845	D	0.97777	1.0230	10	0.87932	D	0	.	18.751	0.91814	0.0:1.0:0.0:0.0	.	82;86;82	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	Q	86;82;82;86;44	ENSP00000420267:R86Q;ENSP00000362686:R82Q;ENSP00000413701:R82Q;ENSP00000341135:R86Q;ENSP00000420587:R44Q	ENSP00000341135:R86Q	R	-	2	0	NR6A1	126356556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.653000	0.90120	0.563000	0.77884	CGG		0.527	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			12	111	0	0	0	0.387290	0	12	111				
MKLN1	4289	broad.mit.edu	37	7	131172449	131172449	+	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.chr7:131172449C>A	ENST00000352689.6	+	18	2210	c.2170C>A	c.(2170-2172)Cct>Act	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)		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)					CAGCATGACTCCTCCTAAAGG	0.433																																						ENST00000352689.6																			1	Substitution - Missense(1)	p.P724T(1)	prostate(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						c.(2170-2172)Cct>Act		muskelin 1, intracellular mediator containing kelch motifs							91.0	83.0	86.0					7																	131172449		2203	4300	6503	SO:0001583	missense	4289				signal transduction	cytoplasm	protein binding	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	ENST00000352689.6:c.2170C>A	7.37:g.131172449C>A	ENSP00000323527:p.Pro724Thr					MKLN1_ENST00000421797.2_Missense_Mutation_p.P632T|MKLN1_ENST00000498778.1_3'UTR	p.P724T	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			18	2210	+	Melanoma(18;0.162)		724					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	c.2170C>A	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.736842	0.69304	.	.	ENSG00000128585	ENST00000421797;ENST00000352689	T;T	0.42131	1.98;0.98	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	N	0.22421	0.69	0.80722	D	1	B;P	0.48764	0.105;0.915	B;B	0.36922	0.014;0.236	T	0.15549	-1.0433	10	0.52906	T	0.07	-12.2078	18.7915	0.91975	0.0:1.0:0.0:0.0	.	724;701	Q9UL63;B4DG30	MKLN1_HUMAN;.	T	632;724	ENSP00000398094:P632T;ENSP00000323527:P724T	ENSP00000323527:P724T	P	+	1	0	MKLN1	130822989	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.796000	0.85898	2.677000	0.91161	0.655000	0.94253	CCT		0.433	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		12	56	1	0	0.0809354	0.387290	0.08768	12	56				
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|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR	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					CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.T343R|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR	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	0	0	0	0.115264	0	3	91				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	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.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	75	0	0	0	0.184627	0	3	75				
RASGRF1	5923	broad.mit.edu	37	15	79291122	79291122	+	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.chr15:79291122C>A	ENST00000419573.3	-	19	3114	c.2840G>T	c.(2839-2841)cGc>cTc	p.R947L	RASGRF1_ENST00000394745.3_Missense_Mutation_p.R163L|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R931L|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	947					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R947L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCTGCTCTGCGGATCACAAA	0.612																																						ENST00000419573.3																			1	Substitution - Missense(1)	p.R947L(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2839-2841)cGc>cTc		Ras protein-specific guanine nucleotide-releasing factor 1							117.0	108.0	111.0					15																	79291122		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79291122C>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2840G>T	15.37:g.79291122C>A	ENSP00000405963:p.Arg947Leu					RASGRF1_ENST00000394745.3_Missense_Mutation_p.R163L|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R931L|RASGRF1_ENST00000560334.1_5'UTR	p.R947L	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			19	3114	-			949					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.2840G>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451215	0.63290	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.27256	1.68;1.68	4.74	3.81	0.43845	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	M	0.77103	2.36	0.58432	D	0.999992	P;B;B;B	0.38223	0.623;0.052;0.366;0.168	B;B;B;B	0.38954	0.286;0.048;0.087;0.104	T	0.09640	-1.0665	10	0.30854	T	0.27	.	12.1452	0.54020	0.1719:0.828:0.0:0.0	.	343;931;949;931	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	L	947;931;163	ENSP00000405963:R947L;ENSP00000378228:R163L	ENSP00000378224:R931L	R	-	2	0	RASGRF1	77078177	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	4.429000	0.59901	1.166000	0.42689	0.591000	0.81541	CGC		0.612	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		13	69	1	0	4.3838e-07	0.435327	5.34276e-07	13	69				
WASH2P	375260	broad.mit.edu	37	2	114356221	114356221	+	RNA	SNP	C	C	T	rs3087934	byFrequency	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.chr2:114356221C>T	ENST00000538033.2	+	0	2401							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GTGAGGGGCCCGGAGGAGCCT	0.657																																						ENST00000538033.2																			0																																																			0							g.chr2:114356221C>T			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114356221C>T														0	2401	+									RNA	SNP	ENST00000538033.2	37																																																																																						0.657	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943		3	5	0	0	0	0.115264	0	3	5				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		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.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			6	80	0	0	0	0.217242	0	6	80				
PSMD7	5713	broad.mit.edu	37	16	74336163	74336163	+	Silent	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.chr16:74336163G>A	ENST00000219313.4	+	5	551	c.411G>A	c.(409-411)gcG>gcA	p.A137A	PSMD7_ENST00000567958.1_Silent_p.A137A|PSMD7_ENST00000540379.1_Silent_p.A60A|AC009120.6_ENST00000566411.1_RNA|PSMD7_ENST00000568615.2_Silent_p.A137A|AC009120.6_ENST00000565313.1_RNA	NM_002811.4	NP_002802.2	P51665	PSMD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	137					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	protein homodimerization activity (GO:0042803)	p.A137A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						CTACAGAAGCGTACATTTCAG	0.433																																						ENST00000219313.4																			1	Substitution - coding silent(1)	p.A137A(1)	prostate(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						c.(409-411)gcG>gcA		proteasome (prosome, macropain) 26S subunit, non-ATPase, 7							166.0	148.0	154.0					16																	74336163		2198	4300	6498	SO:0001819	synonymous_variant	5713				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr16:74336163G>A	D50063	CCDS10910.1	16q22.3	2010-10-15	2007-07-06		ENSG00000103035	ENSG00000103035		"""Proteasome (prosome, macropain) subunits"""	9565	protein-coding gene	gene with protein product	"""Mov34 homolog"""	157970	"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)"""			7755639	Standard	NM_002811		Approved	S12, P40, MOV34, Rpn8	uc002fcq.3	P51665	OTTHUMG00000137601	ENST00000219313.4:c.411G>A	16.37:g.74336163G>A						PSMD7_ENST00000540379.1_Silent_p.A60A|PSMD7_ENST00000567958.1_Silent_p.A137A|PSMD7_ENST00000568615.2_Silent_p.A137A	p.A137A	NM_002811.4	NP_002802.2	P51665	PSD7_HUMAN			5	551	+			137					D3DWS9|Q6PKI2|Q96E97	Silent	SNP	ENST00000219313.4	37	c.411G>A	CCDS10910.1																																																																																				0.433	PSMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269010.2	NM_002811		11	116	0	0	0	0.411799	0	11	116				
PAPPA2	60676	broad.mit.edu	37	1	176668379	176668379	+	Missense_Mutation	SNP	G	G	A	rs201513629		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.chr1:176668379G>A	ENST00000367662.3	+	8	4054	c.2890G>A	c.(2890-2892)Gac>Aac	p.D964N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	964					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D964N(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTCCAAGCCGACACCCTCAC	0.577																																						ENST00000367662.3																			1	Substitution - Missense(1)	p.D964N(1)	prostate(1)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(2890-2892)Gac>Aac		pappalysin 2							138.0	140.0	139.0					1																	176668379		2045	4189	6234	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176668379G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2890G>A	1.37:g.176668379G>A	ENSP00000356634:p.Asp964Asn						p.D964N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			8	4054	+			964					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2890G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955353	0.73902	.	.	ENSG00000116183	ENST00000367662	T	0.01647	4.71	5.05	4.14	0.48551	Fibronectin, type III (2);	0.268541	0.42548	N	0.000695	T	0.04724	0.0128	M	0.64997	1.995	0.80722	D	1	D	0.65815	0.995	P	0.52793	0.709	T	0.31251	-0.9950	10	0.72032	D	0.01	-21.7285	8.7463	0.34589	0.0799:0.1516:0.7685:0.0	.	964	Q9BXP8	PAPP2_HUMAN	N	964	ENSP00000356634:D964N	ENSP00000356634:D964N	D	+	1	0	PAPPA2	174935002	0.997000	0.39634	0.747000	0.31113	0.779000	0.44077	2.669000	0.46825	1.342000	0.45619	0.655000	0.94253	GAC		0.577	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			23	158	0	0	0	0.608945	0	23	158				
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	0	0	0	0.248553	0	7	46				
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_ENST00000357139.3_Silent_p.R1070R|ARHGAP20_ENST00000527598.1_Silent_p.R1060R|ARHGAP20_ENST00000528829.1_Silent_p.R1060R|ARHGAP20_ENST00000533353.1_Silent_p.R1070R|ARHGAP20_ENST00000529591.1_Silent_p.R639R|ARHGAP20_ENST00000524756.1_Silent_p.R1073R	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_ENST00000533353.1_Silent_p.R1070R|ARHGAP20_ENST00000528829.1_Silent_p.R1060R|ARHGAP20_ENST00000527598.1_Silent_p.R1060R|ARHGAP20_ENST00000529591.1_Silent_p.R639R|ARHGAP20_ENST00000357139.3_Silent_p.R1070R|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	0	0	0	0.150653	0	4	139				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	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.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	92	0	0	0	0.217242	0	3	92				
TDGF1P3	6998	broad.mit.edu	37	X	109764689	109764689	+	RNA	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.chrX:109764689G>A	ENST00000602699.1	+	0	1150					NR_002718.2		P51864	TDGF3_HUMAN	teratocarcinoma-derived growth factor 1 pseudogene 3						signal transduction (GO:0007165)	cell outer membrane (GO:0009279)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)										CACGATGTGCGCAAAGAGAAC	0.572																																						ENST00000602699.1																			0																																																			0							g.chrX:109764689G>A	M96956		Xq23	2011-06-24	2011-06-24	2011-06-24	ENSG00000225366	ENSG00000225366			11703	pseudogene	pseudogene			"""teratocarcinoma-derived growth factor 3, pseudogene"""	TDGF3		1882841	Standard	NR_002718		Approved	TDGF2, CR-3, CRIPTO-3, CRIPTO3	uc004eos.1	P51864	OTTHUMG00000022195		X.37:g.109764689G>A								NR_002718.2						0	1150	+									RNA	SNP	ENST00000602699.1	37																																																																																						0.572	TDGF1P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467333.2	NR_002718		20	40	0	0	0	0.557998	0	20	40				
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	0	0	0	0.592651	0	22	178				
PAPPA	5069	broad.mit.edu	37	9	118950296	118950296	+	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.chr9:118950296G>A	ENST00000328252.3	+	2	1648	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	427	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E427K(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGTGACCCCGAGTGCAACCA	0.632																																						ENST00000328252.3																			1	Substitution - Missense(1)	p.E427K(1)	prostate(1)	NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(1279-1281)Gag>Aag		pregnancy-associated plasma protein A, pappalysin 1							64.0	54.0	58.0					9																	118950296		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118950296G>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1279G>A	9.37:g.118950296G>A	ENSP00000330658:p.Glu427Lys						p.E427K	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			2	1648	+			427			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.1279G>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389920	0.95988	.	.	ENSG00000182752	ENST00000328252	D	0.92446	-3.04	6.07	6.07	0.98685	Notch domain (2);	0.000000	0.85682	D	0.000000	D	0.96219	0.8767	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95811	0.8841	10	0.87932	D	0	-27.3797	20.6593	0.99626	0.0:0.0:1.0:0.0	.	427	Q13219	PAPP1_HUMAN	K	427	ENSP00000330658:E427K	ENSP00000330658:E427K	E	+	1	0	PAPPA	117990117	1.000000	0.71417	0.971000	0.41717	0.968000	0.65278	9.827000	0.99397	2.885000	0.99019	0.655000	0.94253	GAG		0.632	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		4	61	0	0	0	0.150653	0	4	61				
MKLN1	4289	broad.mit.edu	37	7	131172448	131172448	+	Silent	SNP	T	T	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.chr7:131172448T>G	ENST00000352689.6	+	18	2209	c.2169T>G	c.(2167-2169)acT>acG	p.T723T	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Silent_p.T631T	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	723					signal transduction (GO:0007165)	cytoplasm (GO:0005737)		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)					ACAGCATGACTCCTCCTAAAG	0.433																																						ENST00000352689.6																			1	Substitution - coding silent(1)	p.T723T(1)	prostate(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						c.(2167-2169)acT>acG		muskelin 1, intracellular mediator containing kelch motifs							93.0	84.0	87.0					7																	131172448		2203	4300	6503	SO:0001819	synonymous_variant	4289				signal transduction	cytoplasm	protein binding	g.chr7:131172448T>G	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	ENST00000352689.6:c.2169T>G	7.37:g.131172448T>G						MKLN1_ENST00000421797.2_Silent_p.T631T|MKLN1_ENST00000498778.1_3'UTR	p.T723T	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			18	2209	+	Melanoma(18;0.162)		723					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Silent	SNP	ENST00000352689.6	37	c.2169T>G	CCDS34754.1																																																																																				0.433	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		12	56	0	0	0	0.387290	0	12	56				
PANX3	116337	broad.mit.edu	37	11	124481615	124481615	+	Missense_Mutation	SNP	G	G	A	rs142639637	byFrequency	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.chr11:124481615G>A	ENST00000284288.2	+	1	230	c.163G>A	c.(163-165)Gcc>Acc	p.A55T		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	55					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)	p.A55T(2)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CCTGGCATTCGCCCAGGAGTT	0.587													G|||	10	0.00199681	0.0076	0.0	5008	,	,		15784	0.0		0.0	False		,,,				2504	0.0					ENST00000284288.2																			2	Substitution - Missense(2)	p.A55T(2)	large_intestine(1)|prostate(1)	NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26						c.(163-165)Gcc>Acc		pannexin 3		G	THR/ALA	37,4365	42.3+/-75.8	1,35,2165	84.0	87.0	86.0		163	4.8	1.0	11	dbSNP_134	86	0,8598		0,0,4299	yes	missense	PANX3	NM_052959.2	58	1,35,6464	AA,AG,GG		0.0,0.8405,0.2846	probably-damaging	55/393	124481615	37,12963	2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124481615G>A	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.163G>A	11.37:g.124481615G>A	ENSP00000284288:p.Ala55Thr						p.A55T	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	1	230	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	55						Missense_Mutation	SNP	ENST00000284288.2	37	c.163G>A	CCDS8447.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	25.4	4.635799	0.87760	0.008405	0.0	ENSG00000154143	ENST00000284288	T	0.38887	1.11	4.78	4.78	0.61160	.	0.051343	0.85682	D	0.000000	T	0.51312	0.1667	L	0.50333	1.59	0.58432	D	0.999995	D	0.89917	1.0	D	0.75020	0.985	T	0.57300	-0.7835	10	0.51188	T	0.08	-16.2529	18.0228	0.89260	0.0:0.0:1.0:0.0	.	55	Q96QZ0	PANX3_HUMAN	T	55	ENSP00000284288:A55T	ENSP00000284288:A55T	A	+	1	0	PANX3	123986825	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.461000	0.97646	2.476000	0.83614	0.655000	0.94253	GCC		0.587	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			14	37	0	0	0	0.457914	0	14	37				
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_ENST00000373750.4_Missense_Mutation_p.C65Y|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	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_ENST00000448110.1_Missense_Mutation_p.C49Y|DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373745.3_Missense_Mutation_p.C65Y|DSN1_ENST00000373750.4_Missense_Mutation_p.C65Y|DSN1_ENST00000473615.1_Intron	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	0	0	0	0.387290	0	11	186				
COL1A1	1277	broad.mit.edu	37	17	48270010	48270010	+	Silent	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.chr17:48270010G>A	ENST00000225964.5	-	28	2038	c.1920C>T	c.(1918-1920)ccC>ccT	p.P640P		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	640	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P640P(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CCTGGAATCCGGGGGAGCCAG	0.602			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	1	Substitution - coding silent(1)	p.P640P(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(1918-1920)ccC>ccT		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						89.0	104.0	99.0					17																	48270010		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48270010G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1920C>T	17.37:g.48270010G>A							p.P640P	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			28	2038	-			640			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.1920C>T	CCDS11561.1																																																																																				0.602	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			19	166	0	0	0	0.575678	0	19	166				
GPM6A	2823	broad.mit.edu	37	4	176622807	176622807	+	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.chr4:176622807G>A	ENST00000280187.7	-	3	194	c.149C>T	c.(148-150)gCg>gTg	p.A50V	GPM6A_ENST00000393658.2_Missense_Mutation_p.A50V|GPM6A_ENST00000515090.1_Missense_Mutation_p.A43V|GPM6A_ENST00000506894.1_Missense_Mutation_p.A39V	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	50					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.A50V(3)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TCCAGAAAGCGCTTCATGACC	0.488																																						ENST00000280187.7																			3	Substitution - Missense(3)	p.A50V(3)	kidney(2)|prostate(1)	NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(148-150)gCg>gTg		glycoprotein M6A							154.0	144.0	148.0					4																	176622807		2203	4300	6503	SO:0001583	missense	2823					cell surface|integral to membrane		g.chr4:176622807G>A		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.149C>T	4.37:g.176622807G>A	ENSP00000280187:p.Ala50Val					GPM6A_ENST00000515090.1_Missense_Mutation_p.A43V|GPM6A_ENST00000506894.1_Missense_Mutation_p.A39V|GPM6A_ENST00000393658.2_Missense_Mutation_p.A50V	p.A50V	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	3	194	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	50					B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	c.149C>T	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	G	36	5.598683	0.96614	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000513365;ENST00000505304	D;D;D;D;D;D;D	0.99548	-6.14;-6.14;-6.14;-6.14;-6.14;-6.14;-6.14	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.98505	1.0616	10	0.87932	D	0	-0.21	20.5211	0.99222	0.0:0.0:1.0:0.0	.	43;39;50	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	V	50;50;39;43;42;50;43	ENSP00000280187:A50V;ENSP00000377268:A50V;ENSP00000421578:A39V;ENSP00000423984:A43V;ENSP00000422959:A42V;ENSP00000423122:A50V;ENSP00000425463:A43V	ENSP00000280187:A50V	A	-	2	0	GPM6A	176859801	1.000000	0.71417	0.970000	0.41538	0.897000	0.52465	9.476000	0.97823	2.861000	0.98227	0.650000	0.86243	GCG		0.488	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			5	155	0	0	0	0.184627	0	5	155				
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	0	0	0	0.387290	0	10	46				
NADK	65220	broad.mit.edu	37	1	1688587	1688588	+	Intron	INS	-	-	C	rs371489550		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.chr1:1688587_1688588insC	ENST00000341426.5	-	4	615				NADK_ENST00000344463.4_Frame_Shift_Ins_p.G246fs|NADK_ENST00000378625.1_Frame_Shift_Ins_p.G246fs|NADK_ENST00000341991.3_Intron|NADK_ENST00000492768.1_Intron|NADK_ENST00000342348.5_Intron	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase						ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CTCCATGTGCACCCCAGGCCCC	0.634																																						ENST00000344463.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17						c.(736-738)ggcfs		NAD kinase			,,,	115,2703		27,61,1321					,,,	-3.7	0.0			2	609,5211		124,361,2425	no	intron,intron,frameshift,intron	NADK	NM_023018.4,NM_001198995.1,NM_001198994.1,NM_001198993.1	,,,	151,422,3746	A1A1,A1R,RR		10.4639,4.0809,8.3816	,,,	,,,		724,7914				SO:0001627	intron_variant	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1688587_1688588insC	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.393+31->G	1.37:g.1688591_1688591dupC						NADK_ENST00000378625.1_Frame_Shift_Ins_p.G246fs|NADK_ENST00000342348.5_Intron|NADK_ENST00000492768.1_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000341426.5_Intron	p.G246fs			O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	6	958_959	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	131					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Frame_Shift_Ins	INS	ENST00000341426.5	37	c.737_738insG	CCDS30565.1																																																																																				0.634	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		2	4						2	4	---	---	---	---
RP11-991C1.2	0	broad.mit.edu	37	14	95516588	95516610	+	lincRNA	DEL	GGAAGGAAGGAAGGAAAGAAGAA	GGAAGGAAGGAAGGAAAGAAGAA	-	rs141805851|rs370630614|rs373606592		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.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA	ENST00000554033.1	+	0	41																											aagaaggaagggaaggaaggaaggaaagaagaaggaaggaagg	0.448																																						ENST00000554033.1																			0																																																			0							g.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA																													14.37:g.95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA														0	41	+									RNA	DEL	ENST00000554033.1	37																																																																																						0.448	RP11-991C1.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414512.1			2	4						2	4	---	---	---	---
