#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DEPDC1	55635	broad.mit.edu	37	1	68948183	68948183	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr1:68948183C>G	ENST00000456315.2	-	8	1422	c.1308G>C	c.(1306-1308)gaG>gaC	p.E436D	DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	436					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)	p.E436D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CACTGGATGCCTCTTTACTTG	0.373																																						ENST00000456315.2																			1	Substitution - Missense(1)	p.E436D(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1306-1308)gaG>gaC		DEP domain containing 1							188.0	172.0	177.0					1																	68948183		1568	3582	5150	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68948183C>G	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1308G>C	1.37:g.68948183C>G	ENSP00000412292:p.Glu436Asp		Somatic				RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	p.E436D	NM_001114120.1	NP_001107592.1	WXS	Illumina GAIIx	Phase_I	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	8	1422	-			436					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.1308G>C	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	2.778	-0.254168	0.05829	.	.	ENSG00000024526	ENST00000456315	T	0.10477	2.87	5.46	1.4	0.22301	Rho GTPase activation protein (1);	0.519098	0.21382	N	0.075452	T	0.01387	0.0045	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47686	-0.9098	10	0.15066	T	0.55	-0.8968	4.693	0.12790	0.272:0.4936:0.0:0.2344	.	436	Q5TB30	DEP1A_HUMAN	D	436	ENSP00000412292:E436D	ENSP00000412292:E436D	E	-	3	2	DEPDC1	68720771	0.000000	0.05858	0.545000	0.28153	0.386000	0.30323	-0.119000	0.10676	0.646000	0.30693	-0.143000	0.13931	GAG		0.373	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		9	227	9	227	---	---	---	---
HNRNPLL	92906	broad.mit.edu	37	2	38818746	38818746	+	Silent	SNP	G	G	C			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr2:38818746G>C	ENST00000449105.3	-	2	573	c.234C>G	c.(232-234)gtC>gtG	p.V78V	HNRNPLL_ENST00000378915.3_Silent_p.V78V|HNRNPLL_ENST00000409636.1_Silent_p.V73V|HNRNPLL_ENST00000608859.1_Silent_p.V78V|HNRNPLL_ENST00000358367.4_Silent_p.V78V|HNRNPLL_ENST00000409328.1_Silent_p.V78V|HNRNPLL_ENST00000410076.1_Silent_p.V73V|HNRNPLL_ENST00000498516.1_5'UTR			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	78	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V78V(1)|p.V73V(1)									CTCGAACATGGACGACGGGTG	0.433																																						ENST00000449105.3																			2	Substitution - coding silent(2)	p.V78V(1)|p.V73V(1)	prostate(2)								c.(232-234)gtC>gtG		heterogeneous nuclear ribonucleoprotein L-like							116.0	111.0	112.0					2																	38818746		2203	4300	6503	SO:0001819	synonymous_variant	92906							g.chr2:38818746G>C	BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"""RNA binding motif (RRM) containing"""	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.234C>G	2.37:g.38818746G>C			Somatic				HNRNPLL_ENST00000410076.1_Silent_p.V73V|HNRNPLL_ENST00000498516.1_5'UTR|HNRNPLL_ENST00000409328.1_Silent_p.V78V|HNRNPLL_ENST00000409636.1_Silent_p.V73V|HNRNPLL_ENST00000608859.1_Silent_p.V78V|HNRNPLL_ENST00000378915.3_Silent_p.V78V|HNRNPLL_ENST00000358367.4_Silent_p.V78V	p.V78V			WXS	Illumina GAIIx	Phase_I					2	573	-								Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Silent	SNP	ENST00000449105.3	37	c.234C>G																																																																																					0.433	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394		17	123	17	123	---	---	---	---
TMEFF2	23671	broad.mit.edu	37	2	193056699	193056699	+	Silent	SNP	T	T	C			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr2:193056699T>C	ENST00000272771.5	-	2	1373	c.189A>G	c.(187-189)gaA>gaG	p.E63E	TMEFF2_ENST00000409056.3_Silent_p.E63E|TMEFF2_ENST00000392314.1_Silent_p.E63E	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	63				E -> G (in Ref. 6; BAC11030). {ECO:0000305}.		extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.E63E(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AGAGATCATTTTCTCTGTCAT	0.348																																					Pancreas(50;1277 1381 28487 47072)	ENST00000409056.3																			1	Substitution - coding silent(1)	p.E63E(1)	prostate(1)	breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(187-189)gaA>gaG		transmembrane protein with EGF-like and two follistatin-like domains 2							87.0	83.0	84.0					2																	193056699		2203	4300	6503	SO:0001819	synonymous_variant	23671					extracellular region|integral to membrane		g.chr2:193056699T>C	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.189A>G	2.37:g.193056699T>C			Somatic				TMEFF2_ENST00000392314.1_Silent_p.E63E|TMEFF2_ENST00000272771.5_Silent_p.E63E	p.E63E			WXS	Illumina GAIIx	Phase_I	Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		2	188	-			63	E -> G (in Ref. 6; BAC11030).				Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Silent	SNP	ENST00000272771.5	37	c.189A>G	CCDS2314.1																																																																																				0.348	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		7	58	7	58	---	---	---	---
C3orf38	285237	broad.mit.edu	37	3	88202584	88202584	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr3:88202584C>T	ENST00000318887.3	+	2	648	c.338C>T	c.(337-339)cCa>cTa	p.P113L	C3orf38_ENST00000486971.1_Missense_Mutation_p.P113L	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	113					apoptotic process (GO:0006915)			p.P111L(1)|p.P113L(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		ACGCCAGAGCCAGTTACAAAG	0.368																																						ENST00000318887.3																			2	Substitution - Missense(2)	p.P111L(1)|p.P113L(1)	prostate(2)	breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(337-339)cCa>cTa		chromosome 3 open reading frame 38							81.0	80.0	80.0					3																	88202584		2203	4300	6503	SO:0001583	missense	285237				apoptosis			g.chr3:88202584C>T	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.338C>T	3.37:g.88202584C>T	ENSP00000322469:p.Pro113Leu		Somatic				C3orf38_ENST00000486971.1_Missense_Mutation_p.P113L	p.P113L	NM_173824.3	NP_776185.2	WXS	Illumina GAIIx	Phase_I	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	2	648	+		Lung NSC(201;0.17)	113					B2R8X6|Q8TC85	Missense_Mutation	SNP	ENST00000318887.3	37	c.338C>T	CCDS2921.2	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512600	0.27123	.	.	ENSG00000179021	ENST00000318887;ENST00000486971	.	.	.	5.84	1.89	0.25635	.	0.793733	0.12023	N	0.506735	T	0.33411	0.0862	L	0.53249	1.67	0.09310	N	1	B	0.34015	0.435	B	0.31101	0.124	T	0.25117	-1.0141	9	0.52906	T	0.07	-3.5415	5.4961	0.16804	0.1247:0.5282:0.2676:0.0796	.	113	Q5JPI3	CC038_HUMAN	L	113	.	ENSP00000322469:P113L	P	+	2	0	C3orf38	88285274	0.000000	0.05858	0.128000	0.21923	0.570000	0.35934	-0.051000	0.11885	0.793000	0.33875	0.650000	0.86243	CCA		0.368	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		5	71	5	71	---	---	---	---
SH3TC1	54436	broad.mit.edu	37	4	8235132	8235132	+	Silent	SNP	G	G	A			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr4:8235132G>A	ENST00000245105.3	+	14	3241	c.3174G>A	c.(3172-3174)ggG>ggA	p.G1058G	SH3TC1_ENST00000539824.1_Silent_p.G982G	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1058								p.G1058G(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GAAGTCTGGGGATTTTCATTG	0.537																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			1	Substitution - coding silent(1)	p.G1058G(1)	prostate(1)	NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2944-2946)ggG>ggA		SH3 domain and tetratricopeptide repeats 1							82.0	73.0	76.0					4																	8235132		2203	4300	6503	SO:0001819	synonymous_variant	54436						binding	g.chr4:8235132G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3174G>A	4.37:g.8235132G>A			Somatic				SH3TC1_ENST00000245105.3_Silent_p.G1058G	p.G982G			WXS	Illumina GAIIx	Phase_I	Q8TE82	S3TC1_HUMAN			14	3320	+			1058					Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.2946G>A	CCDS3399.1																																																																																				0.537	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		6	34	6	34	---	---	---	---
TRMT44	152992	broad.mit.edu	37	4	8467202	8467202	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr4:8467202G>C	ENST00000389737.4	+	8	1408	c.1408G>C	c.(1408-1410)Gaa>Caa	p.E470Q	TRMT44_ENST00000513449.2_Missense_Mutation_p.E229Q	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	470					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.E470Q(1)|p.E78Q(1)									TCAGTACCGGGAATACCTTGA	0.473																																						ENST00000389737.4																			2	Substitution - Missense(2)	p.E470Q(1)|p.E78Q(1)	prostate(2)								c.(1408-1410)Gaa>Caa		tRNA methyltransferase 44 homolog (S. cerevisiae)							131.0	129.0	129.0					4																	8467202		2203	4300	6503	SO:0001583	missense	152992							g.chr4:8467202G>C	AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1408G>C	4.37:g.8467202G>C	ENSP00000374387:p.Glu470Gln		Somatic				TRMT44_ENST00000513449.2_Missense_Mutation_p.E229Q	p.E470Q	NM_152544.2	NP_689757.2	WXS	Illumina GAIIx	Phase_I					8	1408	+								Q8NA95	Missense_Mutation	SNP	ENST00000389737.4	37	c.1408G>C	CCDS3402.2	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751590	0.69533	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	T;T	0.33438	1.41;1.41	4.75	4.75	0.60458	.	0.058315	0.64402	D	0.000002	T	0.46946	0.1419	L	0.57536	1.79	0.58432	D	0.999998	P;D	0.53312	0.761;0.959	B;P	0.56474	0.248;0.799	T	0.34625	-0.9821	10	0.37606	T	0.19	-23.3519	17.9328	0.89004	0.0:0.0:1.0:0.0	.	470;229	Q8IYL2;Q8IYL2-2	TRM44_HUMAN;.	Q	229;470;78	ENSP00000424643:E229Q;ENSP00000374387:E470Q	ENSP00000285635:E78Q	E	+	1	0	METTL19	8518102	1.000000	0.71417	0.641000	0.29422	0.859000	0.49053	8.616000	0.90924	2.453000	0.82957	0.637000	0.83480	GAA		0.473	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		5	126	5	126	---	---	---	---
CWH43	80157	broad.mit.edu	37	4	48994016	48994016	+	Silent	SNP	T	T	C			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr4:48994016T>C	ENST00000226432.4	+	4	603	c.420T>C	c.(418-420)taT>taC	p.Y140Y	CWH43_ENST00000513409.1_Silent_p.Y113Y	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	140					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.Y140Y(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCATATGGTATACTTCACTAA	0.368																																						ENST00000226432.4																			1	Substitution - coding silent(1)	p.Y140Y(1)	prostate(1)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(418-420)taT>taC		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							189.0	171.0	177.0					4																	48994016		2203	4300	6503	SO:0001819	synonymous_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:48994016T>C		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.420T>C	4.37:g.48994016T>C			Somatic				CWH43_ENST00000513409.1_Silent_p.Y113Y	p.Y140Y	NM_025087.2	NP_079363.2	WXS	Illumina GAIIx	Phase_I	Q9H720	PG2IP_HUMAN			4	603	+			140					B2RPD7	Silent	SNP	ENST00000226432.4	37	c.420T>C	CCDS3486.1																																																																																				0.368	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		13	111	13	111	---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138451489	138451489	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr4:138451489G>A	ENST00000344876.4	-	1	2140	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.T585M|PCDH18_ENST00000507846.1_Missense_Mutation_p.T365M	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	585	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T585M(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GATTTCTGCCGTATTATTACG	0.468																																						ENST00000344876.4																			1	Substitution - Missense(1)	p.T585M(1)	prostate(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1753-1755)aCg>aTg		protocadherin 18							208.0	194.0	199.0					4																	138451489		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451489G>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1754C>T	4.37:g.138451489G>A	ENSP00000355082:p.Thr585Met		Somatic				PCDH18_ENST00000507846.1_Missense_Mutation_p.T365M|PCDH18_ENST00000412923.2_Missense_Mutation_p.T585M|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron	p.T585M	NM_019035.3	NP_061908.1	WXS	Illumina GAIIx	Phase_I	Q9HCL0	PCD18_HUMAN			1	2140	-	all_hematologic(180;0.24)		585			Cadherin 6.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1754C>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202711	0.58234	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.59906	0.23;0.23;0.23	5.93	5.93	0.95920	Cadherin (2);Cadherin-like (1);	0.000000	0.44483	D	0.000441	T	0.76737	0.4029	M	0.68728	2.09	0.80722	D	1	D;P;D	0.89917	1.0;0.939;1.0	D;P;D	0.91635	0.998;0.669;0.999	T	0.77081	-0.2720	10	0.87932	D	0	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	365;585;585	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	M	585;585;365	ENSP00000355082:T585M;ENSP00000390688:T585M;ENSP00000425903:T365M	ENSP00000355082:T585M	T	-	2	0	PCDH18	138670939	1.000000	0.71417	0.723000	0.30687	0.817000	0.46193	9.802000	0.99131	2.802000	0.96397	0.563000	0.77884	ACG		0.468	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		9	425	9	425	---	---	---	---
SNX18	112574	broad.mit.edu	37	5	53814839	53814839	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr5:53814839A>T	ENST00000326277.3	+	1	1247	c.1057A>T	c.(1057-1059)Agg>Tgg	p.R353W	SNX18_ENST00000381410.4_Missense_Mutation_p.R353W|SNX18_ENST00000343017.6_Missense_Mutation_p.R353W	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	353	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R353W(3)		endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CTCTAAGCGCAGGAAGGGCCT	0.652																																						ENST00000343017.6																			3	Substitution - Missense(3)	p.R353W(3)	prostate(3)	endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1057-1059)Agg>Tgg		sorting nexin 18							28.0	33.0	32.0					5																	53814839		2202	4299	6501	SO:0001583	missense	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53814839A>T	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1057A>T	5.37:g.53814839A>T	ENSP00000317332:p.Arg353Trp		Somatic				SNX18_ENST00000326277.3_Missense_Mutation_p.R353W|SNX18_ENST00000381410.4_Missense_Mutation_p.R353W	p.R353W	NM_001145427.1	NP_001138899.1	WXS	Illumina GAIIx	Phase_I	Q96RF0	SNX18_HUMAN			1	1251	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	353			PX.		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000326277.3	37	c.1057A>T	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.580212	0.65992	.	.	ENSG00000178996	ENST00000343017;ENST00000381410;ENST00000326277	T;T;T	0.44083	0.93;0.93;0.93	4.87	-0.971	0.10303	Phox homologous domain (5);	0.104913	0.64402	D	0.000011	T	0.68137	0.2968	M	0.89968	3.075	0.49389	D	0.999783	D;D	0.76494	0.999;0.999	D;D	0.73708	0.975;0.981	T	0.77104	-0.2711	10	0.87932	D	0	-27.1511	17.156	0.86791	0.3265:0.6735:0.0:0.0	.	353;353	Q96RF0;Q96RF0-2	SNX18_HUMAN;.	W	353	ENSP00000342276:R353W;ENSP00000370817:R353W;ENSP00000317332:R353W	ENSP00000317332:R353W	R	+	1	2	SNX18	53850596	0.999000	0.42202	0.964000	0.40570	0.933000	0.57130	1.612000	0.36889	-0.300000	0.08895	0.455000	0.32223	AGG		0.652	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			7	64	7	64	---	---	---	---
TTC37	9652	broad.mit.edu	37	5	94857934	94857934	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr5:94857934C>G	ENST00000358746.2	-	19	2133	c.1835G>C	c.(1834-1836)gGa>gCa	p.G612A	RNU6-308P_ENST00000390957.1_RNA	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	612						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.G612A(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TGTGTAGCCTCCTCTGCTTAA	0.413																																						ENST00000358746.2																			1	Substitution - Missense(1)	p.G612A(1)	prostate(1)	breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(1834-1836)gGa>gCa		tetratricopeptide repeat domain 37							194.0	168.0	177.0					5																	94857934		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94857934C>G	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.1835G>C	5.37:g.94857934C>G	ENSP00000351596:p.Gly612Ala		Somatic					p.G612A	NM_014639.3	NP_055454.1	WXS	Illumina GAIIx	Phase_I	Q6PGP7	TTC37_HUMAN			19	2133	-			612					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.1835G>C	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355579	0.82243	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	T;T	0.70986	-0.53;-0.53	4.72	4.72	0.59763	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.059335	0.64402	D	0.000002	D	0.87018	0.6073	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.991;0.992	D	0.89606	0.3838	10	0.59425	D	0.04	.	18.0693	0.89400	0.0:1.0:0.0:0.0	.	564;612	D6RCE2;Q6PGP7	.;TTC37_HUMAN	A	612;564	ENSP00000351596:G612A;ENSP00000423742:G564A	ENSP00000351596:G612A	G	-	2	0	TTC37	94883690	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.642000	0.67888	2.336000	0.79503	0.467000	0.42956	GGA		0.413	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		19	137	19	137	---	---	---	---
SLC25A2	83884	broad.mit.edu	37	5	140682861	140682861	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr5:140682861T>C	ENST00000239451.4	-	1	751	c.572A>G	c.(571-573)tAt>tGt	p.Y191C		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	191					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.Y191C(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GCTCAGTTCATAGCCACCAAA	0.458																																						ENST00000239451.4																			1	Substitution - Missense(1)	p.Y191C(1)	prostate(1)	breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(571-573)tAt>tGt		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	L-Ornithine(DB00129)						85.0	89.0	87.0					5																	140682861		2203	4300	6503	SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140682861T>C	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.572A>G	5.37:g.140682861T>C	ENSP00000239451:p.Tyr191Cys		Somatic					p.Y191C	NM_031947.2	NP_114153.1	WXS	Illumina GAIIx	Phase_I	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	751	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	191					Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.572A>G	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.999048	0.54147	.	.	ENSG00000120329	ENST00000239451	D	0.84944	-1.92	3.78	2.6	0.31112	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93252	0.7850	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92221	0.5784	10	0.87932	D	0	0.0086	7.7191	0.28721	0.0:0.105:0.0:0.895	.	191	Q9BXI2	ORNT2_HUMAN	C	191	ENSP00000239451:Y191C	ENSP00000239451:Y191C	Y	-	2	0	SLC25A2	140663045	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	6.579000	0.74036	0.813000	0.34350	0.528000	0.53228	TAT		0.458	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		12	122	12	122	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66205253	66205253	+	Silent	SNP	A	A	T			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr6:66205253A>T	ENST00000370621.3	-	4	577	c.51T>A	c.(49-51)tcT>tcA	p.S17S	EYS_ENST00000393380.2_Silent_p.S17S|EYS_ENST00000342421.5_Silent_p.S17S|EYS_ENST00000370618.3_Silent_p.S17S|EYS_ENST00000503581.1_Silent_p.S17S|EYS_ENST00000370616.2_Silent_p.S17S			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	17					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CATTTATGAAAGAGCTGTGAA	0.378																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(49-51)tcT>tcA		eyes shut homolog (Drosophila)							70.0	70.0	70.0					6																	66205253		2203	4300	6503	SO:0001819	synonymous_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66205253A>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.51T>A	6.37:g.66205253A>T			Somatic				EYS_ENST00000370616.2_Silent_p.S17S|EYS_ENST00000370621.3_Silent_p.S17S|EYS_ENST00000393380.2_Silent_p.S17S|EYS_ENST00000342421.5_Silent_p.S17S|EYS_ENST00000370618.3_Silent_p.S17S	p.S17S	NM_001142800.1	NP_001136272.1	WXS	Illumina GAIIx	Phase_I	Q5T1H1	EYS_HUMAN			4	588	-			17					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37	c.51T>A																																																																																					0.378	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		16	95	16	95	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725481	87725481	+	Silent	SNP	C	C	A			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr6:87725481C>A	ENST00000305344.5	+	2	1132	c.429C>A	c.(427-429)atC>atA	p.I143I		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	143					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.I143I(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CGCTGATGATCCTTACCGTCT	0.582																																						ENST00000305344.5																			1	Substitution - coding silent(1)	p.I143I(1)	prostate(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(427-429)atC>atA		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)						111.0	95.0	100.0					6																	87725481		2203	4300	6503	SO:0001819	synonymous_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725481C>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.429C>A	6.37:g.87725481C>A			Somatic					p.I143I	NM_000865.2	NP_000856.1	WXS	Illumina GAIIx	Phase_I	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1132	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)						E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	c.429C>A	CCDS5006.1																																																																																				0.582	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		12	83	12	83	---	---	---	---
SCARA5	286133	broad.mit.edu	37	8	27762295	27762295	+	Splice_Site	SNP	T	T	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr8:27762295T>G	ENST00000354914.3	-	7	1638	c.1153A>C	c.(1153-1155)Agt>Cgt	p.S385R	SCARA5_ENST00000524352.1_Missense_Mutation_p.S385R|RP11-597M17.1_ENST00000517735.1_RNA|SCARA5_ENST00000380385.2_Splice_Site_p.S160R|SCARA5_ENST00000518030.1_Missense_Mutation_p.S342R|SCARA5_ENST00000301906.4_Missense_Mutation_p.S342R	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	385					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)	p.S385R(1)		central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		ATGTCCTTACTGGCATCCCCA	0.532																																						ENST00000524352.1																			1	Substitution - Missense(1)	p.S385R(1)	prostate(1)	central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18						c.(1153-1155)Agt>Cgt		scavenger receptor class A, member 5 (putative)							140.0	111.0	121.0					8																	27762295		2203	4300	6503	SO:0001630	splice_region_variant	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27762295T>G	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1153+1A>C	8.37:g.27762295T>G			Somatic				SCARA5_ENST00000301906.4_Missense_Mutation_p.S342R|SCARA5_ENST00000354914.3_Splice_Site_p.S385R|SCARA5_ENST00000380385.2_Splice_Site_p.S160R|SCARA5_ENST00000518030.1_Missense_Mutation_p.S342R|RP11-597M17.1_ENST00000517735.1_RNA	p.S385R			WXS	Illumina GAIIx	Phase_I	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	7	1535	-		Ovarian(32;0.0218)	385					Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	ENST00000354914.3	37	c.1153A>C	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	T	10.52	1.373034	0.24857	.	.	ENSG00000168079	ENST00000354914;ENST00000380385;ENST00000517320;ENST00000524352;ENST00000518030;ENST00000301906	D;D;D;D;D	0.91068	-2.4;-2.37;-2.78;-2.69;-2.69	4.18	-1.52	0.08637	.	0.900193	0.09628	N	0.776595	T	0.81550	0.4846	N	0.08118	0	0.29271	N	0.870654	B;P;P;B	0.35656	0.226;0.514;0.514;0.022	B;B;B;B	0.41332	0.178;0.354;0.354;0.053	T	0.74150	-0.3758	10	0.62326	D	0.03	.	8.5634	0.33525	0.0:0.5745:0.0:0.4255	.	160;385;342;385	Q6ZMJ2-4;Q6ZMJ2-2;Q6ZMJ2-3;Q6ZMJ2	.;.;.;SCAR5_HUMAN	R	385;160;185;385;342;342	ENSP00000346990:S385R;ENSP00000369746:S160R;ENSP00000428663:S385R;ENSP00000430713:S342R;ENSP00000301906:S342R	ENSP00000301906:S342R	S	-	1	0	SCARA5	27818214	0.406000	0.25344	0.872000	0.34217	0.484000	0.33280	-0.071000	0.11505	-0.242000	0.09667	-0.250000	0.11733	AGT		0.532	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833	Missense_Mutation	6	51	6	51	---	---	---	---
RNLS	55328	broad.mit.edu	37	10	90342915	90342915	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr10:90342915C>T	ENST00000331772.4	-	1	55	c.33G>A	c.(31-33)atG>atA	p.M11I	RNLS_ENST00000371947.3_Missense_Mutation_p.M11I|RNLS_ENST00000437752.1_Missense_Mutation_p.M11I|RNLS_ENST00000466945.1_5'UTR|Y_RNA_ENST00000364678.1_RNA	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	11					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)	p.M11I(1)		breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						AGCTTCCTGTCATCCCGGCGC	0.647											OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371947.3																			1	Substitution - Missense(1)	p.M11I(1)	prostate(1)	breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(31-33)atG>atA		renalase, FAD-dependent amine oxidase							52.0	49.0	50.0					10																	90342915		2203	4300	6503	SO:0001583	missense	55328					extracellular region	oxidoreductase activity	g.chr10:90342915C>T	BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.33G>A	10.37:g.90342915C>T	ENSP00000332530:p.Met11Ile		Somatic	OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1274	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000331772.4_Missense_Mutation_p.M11I|RNLS_ENST00000437752.1_Missense_Mutation_p.M11I	p.M11I	NM_018363.3	NP_060833.1	WXS	Illumina GAIIx	Phase_I	Q5VYX0	RNLS_HUMAN			1	1372	-			11					Q9BS33|Q9NUP8	Missense_Mutation	SNP	ENST00000331772.4	37	c.33G>A	CCDS31239.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894886	0.33442	.	.	ENSG00000184719	ENST00000371947;ENST00000437752;ENST00000331772	T;T;T	0.78707	-1.2;-1.2;-1.2	4.99	1.35	0.21983	.	0.197902	0.33772	N	0.004569	T	0.48978	0.1530	N	0.03304	-0.355	0.22710	N	0.998827	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.33033	-0.9884	10	0.12430	T	0.62	.	8.5163	0.33248	0.0:0.6746:0.136:0.1895	.	11;11;11	B4DJW3;Q5VYX0;Q5VYX0-2	.;RNLS_HUMAN;.	I	11	ENSP00000361015:M11I;ENSP00000387577:M11I;ENSP00000332530:M11I	ENSP00000332530:M11I	M	-	3	0	RNLS	90332895	0.995000	0.38212	0.994000	0.49952	0.848000	0.48234	0.134000	0.15932	0.363000	0.24346	0.462000	0.41574	ATG		0.647	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049250.1	NM_018363		4	75	4	75	---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3721914	3721914	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr11:3721914T>C	ENST00000324932.7	-	24	4088	c.3668A>G	c.(3667-3669)aAt>aGt	p.N1223S	NUP98_ENST00000355260.3_Missense_Mutation_p.N1223S|NUP98_ENST00000359171.4_Missense_Mutation_p.N1223S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1240					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.N1223S(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AACTCCCAGATTGGGGACAAT	0.418			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		1	Substitution - Missense(1)	p.N1223S(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3667-3669)aAt>aGt		nucleoporin 98kDa							174.0	156.0	162.0					11																	3721914		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3721914T>C	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3668A>G	11.37:g.3721914T>C	ENSP00000316032:p.Asn1223Ser		Somatic				NUP98_ENST00000359171.4_Missense_Mutation_p.N1223S|NUP98_ENST00000355260.3_Missense_Mutation_p.N1223S	p.N1223S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	WXS	Illumina GAIIx	Phase_I	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	24	4088	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1240					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.3668A>G	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.862145	0.32884	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260	.	.	.	5.4	5.4	0.78164	.	0.287519	0.39615	N	0.001315	T	0.58192	0.2105	L	0.54323	1.7	0.28559	N	0.911208	P;P;D	0.67145	0.914;0.519;0.996	B;B;D	0.77557	0.341;0.269;0.99	T	0.54159	-0.8335	9	0.02654	T	1	-17.937	14.6112	0.68517	0.0:0.0:0.0:1.0	.	1223;1223;1137	P52948-2;P52948-5;P52948-6	.;.;.	S	1223	.	ENSP00000316032:N1223S	N	-	2	0	NUP98	3678490	1.000000	0.71417	0.997000	0.53966	0.853000	0.48598	2.737000	0.47393	2.060000	0.61445	0.528000	0.53228	AAT		0.418	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		5	94	5	94	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	19955124	19955124	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr11:19955124C>G	ENST00000396087.3	+	8	1502	c.1403C>G	c.(1402-1404)gCc>gGc	p.A468G	NAV2_ENST00000527559.2_Missense_Mutation_p.A397G|NAV2_ENST00000540292.1_Missense_Mutation_p.A399G|NAV2_ENST00000360655.4_Missense_Mutation_p.A381G|NAV2_ENST00000349880.4_Missense_Mutation_p.A445G|NAV2_ENST00000396085.1_Missense_Mutation_p.A445G	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	468					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.A468G(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CTGGAGGCCGCCAGTCGCATG	0.647																																						ENST00000396085.1																			1	Substitution - Missense(1)	p.A468G(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(1333-1335)gCc>gGc		neuron navigator 2							38.0	45.0	43.0					11																	19955124		2199	4292	6491	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19955124C>G	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.1403C>G	11.37:g.19955124C>G	ENSP00000379396:p.Ala468Gly		Somatic				NAV2_ENST00000360655.4_Missense_Mutation_p.A381G|NAV2_ENST00000540292.1_Missense_Mutation_p.A399G|NAV2_ENST00000349880.4_Missense_Mutation_p.A445G|NAV2_ENST00000527559.2_Missense_Mutation_p.A397G|NAV2_ENST00000396087.3_Missense_Mutation_p.A468G	p.A445G	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	Q8IVL1	NAV2_HUMAN			7	1695	+			468					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.1334C>G	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	5.736	0.320276	0.10845	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.29142	1.59;1.69;1.7;1.69;1.59;1.58	5.42	3.53	0.40419	.	0.754197	0.12384	N	0.473613	T	0.26122	0.0637	L	0.43152	1.355	0.35967	D	0.835066	B;B	0.14805	0.001;0.011	B;B	0.20767	0.012;0.031	T	0.12451	-1.0547	9	.	.	.	.	9.6264	0.39752	0.0:0.776:0.1479:0.0761	.	445;381	Q8IVL1-3;Q8IVL1-4	.;.	G	381;445;445;468;397;399	ENSP00000353871:A381G;ENSP00000379394:A445G;ENSP00000309577:A445G;ENSP00000379396:A468G;ENSP00000435395:A397G;ENSP00000443489:A399G	.	A	+	2	0	NAV2	19911700	0.000000	0.05858	0.002000	0.10522	0.346000	0.29079	0.460000	0.21924	0.652000	0.30806	0.455000	0.32223	GCC		0.647	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		4	60	4	60	---	---	---	---
NPAT	4863	broad.mit.edu	37	11	108032027	108032027	+	Silent	SNP	A	A	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr11:108032027A>G	ENST00000278612.8	-	17	3891	c.3786T>C	c.(3784-3786)agT>agC	p.S1262S		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1262					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S1262S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GTAAATCACTACTATCAGCAA	0.438																																						ENST00000278612.8																			1	Substitution - coding silent(1)	p.S1262S(1)	prostate(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(3784-3786)agT>agC		nuclear protein, ataxia-telangiectasia locus							109.0	108.0	109.0					11																	108032027		1853	4091	5944	SO:0001819	synonymous_variant	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108032027A>G	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3786T>C	11.37:g.108032027A>G			Somatic					p.S1262S	NM_002519.2	NP_002510.2	WXS	Illumina GAIIx	Phase_I	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	17	3891	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1262					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	c.3786T>C	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.822054	0.00589	.	.	ENSG00000149308	ENST00000527296	.	.	.	4.61	-0.429	0.12303	.	.	.	.	.	T	0.30854	0.0778	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29366	-1.0014	4	.	.	.	-4.7396	6.8692	0.24111	0.4198:0.1397:0.4405:0.0	.	.	.	.	A	261	.	.	V	-	2	0	NPAT	107537237	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.379000	0.20585	-0.156000	0.11079	-0.385000	0.06624	GTA		0.438	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		6	234	6	234	---	---	---	---
C1S	716	broad.mit.edu	37	12	7177943	7177943	+	Silent	SNP	C	C	T			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr12:7177943C>T	ENST00000406697.1	+	15	2683	c.2055C>T	c.(2053-2055)ccC>ccT	p.P685P	C1S_ENST00000360817.5_Silent_p.P685P|C1S_ENST00000402681.3_Silent_p.P518P|C1S_ENST00000328916.3_Silent_p.P685P			P09871	C1S_HUMAN	complement component 1, s subcomponent	685					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)	p.P685P(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ATAGCACCCCCCGTGAGGACT	0.483																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			1	Substitution - coding silent(1)	p.P685P(1)	prostate(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2053-2055)ccC>ccT		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						59.0	65.0	63.0					12																	7177943		2203	4300	6503	SO:0001819	synonymous_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177943C>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.2055C>T	12.37:g.7177943C>T			Somatic				C1S_ENST00000402681.3_Silent_p.P518P|C1S_ENST00000360817.5_Silent_p.P685P|C1S_ENST00000328916.3_Silent_p.P685P	p.P685P			WXS	Illumina GAIIx	Phase_I	P09871	C1S_HUMAN			15	2683	+			685					D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Silent	SNP	ENST00000406697.1	37	c.2055C>T	CCDS31735.1																																																																																				0.483	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		15	127	15	127	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39262558	39262558	+	Silent	SNP	T	T	C			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr13:39262558T>C	ENST00000280481.7	+	1	1293	c.1077T>C	c.(1075-1077)ctT>ctC	p.L359L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	359					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L359L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCTTCAACCTTACTTCTCCAT	0.572																																						ENST00000280481.7																			1	Substitution - coding silent(1)	p.L359L(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1075-1077)ctT>ctC		FRAS1 related extracellular matrix protein 2							126.0	114.0	118.0					13																	39262558		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262558T>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1077T>C	13.37:g.39262558T>C			Somatic					p.L359L	NM_207361.4	NP_997244.3	WXS	Illumina GAIIx	Phase_I	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1293	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	359					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.1077T>C	CCDS31960.1																																																																																				0.572	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		5	79	5	79	---	---	---	---
GPR183	1880	broad.mit.edu	37	13	99948335	99948335	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr13:99948335T>G	ENST00000376414.4	-	2	148	c.65A>C	c.(64-66)gAc>gCc	p.D22A	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	22					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)	p.D22A(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TGCATAGAGGTCACAGTCATT	0.478																																						ENST00000376414.4																			1	Substitution - Missense(1)	p.D22A(1)	prostate(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						c.(64-66)gAc>gCc		G protein-coupled receptor 183							75.0	68.0	70.0					13																	99948335		2203	4290	6493	SO:0001583	missense	1880				humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99948335T>G	L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"""GPCR / Class A : Orphans"""	3128	protein-coding gene	gene with protein product	"""EBV-induced G-protein coupled receptor 2"""	605741	"""Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"""	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.65A>C	13.37:g.99948335T>G	ENSP00000365596:p.Asp22Ala		Somatic				UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	p.D22A	NM_004951.4	NP_004942.1	WXS	Illumina GAIIx	Phase_I	P32249	GP183_HUMAN			2	148	-			22					B2R8N5|Q53F99|Q5JUH7	Missense_Mutation	SNP	ENST00000376414.4	37	c.65A>C	CCDS9492.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.659589	0.29515	.	.	ENSG00000169508	ENST00000376414	T	0.36878	1.23	5.69	5.69	0.88448	.	0.243736	0.40908	D	0.000998	T	0.23688	0.0573	N	0.19112	0.55	0.41849	D	0.990165	P	0.45078	0.85	B	0.36666	0.23	T	0.04481	-1.0948	9	.	.	.	.	15.9448	0.79784	0.0:0.0:0.0:1.0	.	22	P32249	GP183_HUMAN	A	22	ENSP00000365596:D22A	.	D	-	2	0	GPR183	98746336	1.000000	0.71417	0.978000	0.43139	0.623000	0.37688	6.696000	0.74598	2.158000	0.67659	0.533000	0.62120	GAC		0.478	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951		7	96	7	96	---	---	---	---
PROZ	8858	broad.mit.edu	37	13	113825982	113825982	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr13:113825982G>A	ENST00000375547.2	+	8	773	c.766G>A	c.(766-768)Gac>Aac	p.D256N	PROZ_ENST00000342783.4_Missense_Mutation_p.D278N	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	256	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.D256N(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GTATGACGCGGACGCGGGGGA	0.562																																						ENST00000342783.4																			1	Substitution - Missense(1)	p.D256N(1)	prostate(1)	NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16						c.(832-834)Gac>Aac		protein Z, vitamin K-dependent plasma glycoprotein	Menadione(DB00170)						82.0	79.0	80.0					13																	113825982		2203	4300	6503	SO:0001583	missense	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113825982G>A	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.766G>A	13.37:g.113825982G>A	ENSP00000364697:p.Asp256Asn		Somatic				PROZ_ENST00000375547.2_Missense_Mutation_p.D256N	p.D278N	NM_001256134.1	NP_001243063.1	WXS	Illumina GAIIx	Phase_I	P22891	PROZ_HUMAN	all cancers(43;0.104)		9	839	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	256			Peptidase S1.		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	c.832G>A	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	G	9.367	1.069577	0.20147	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.88818	-2.43;-2.43	4.16	4.16	0.48862	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.242826	0.41712	D	0.000840	T	0.81226	0.4778	N	0.21194	0.64	0.26948	N	0.966093	B;B	0.15719	0.014;0.006	B;B	0.15052	0.01;0.012	T	0.74934	-0.3495	10	0.87932	D	0	.	11.1517	0.48462	0.0919:0.0:0.9081:0.0	.	278;256	P22891-2;P22891	.;PROZ_HUMAN	N	256;278	ENSP00000364697:D256N;ENSP00000344458:D278N	ENSP00000344458:D278N	D	+	1	0	PROZ	112873983	0.415000	0.25416	0.018000	0.16275	0.005000	0.04900	2.058000	0.41374	1.842000	0.53543	0.313000	0.20887	GAC		0.562	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		9	129	9	129	---	---	---	---
DHRS7	51635	broad.mit.edu	37	14	60619800	60619800	+	Missense_Mutation	SNP	A	A	C	rs111656127		TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr14:60619800A>C	ENST00000216500.5	-	5	945	c.490T>G	c.(490-492)Tta>Gta	p.L164V	DHRS7_ENST00000536410.2_Missense_Mutation_p.L114V|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Missense_Mutation_p.L164V|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000553986.1_5'UTR			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	164						membrane (GO:0016020)	oxidoreductase activity (GO:0016491)	p.L164V(1)		endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		ACCGTCCCTAAGTAGTTAAGC	0.443																																						ENST00000216500.5																			1	Substitution - Missense(1)	p.L164V(1)	prostate(1)	endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						c.(490-492)Tta>Gta		dehydrogenase/reductase (SDR family) member 7							182.0	153.0	163.0					14																	60619800		2203	4300	6503	SO:0001583	missense	51635						binding|oxidoreductase activity	g.chr14:60619800A>C	AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	21524	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 4"", ""short chain dehydrogenase/reductase family 34C, member 1"""	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.490T>G	14.37:g.60619800A>C	ENSP00000216500:p.Leu164Val		Somatic				DHRS7_ENST00000553986.1_5'UTR|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000536410.2_Missense_Mutation_p.L114V|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Missense_Mutation_p.L164V	p.L164V			WXS	Illumina GAIIx	Phase_I	Q9Y394	DHRS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.121)	5	945	-			164					B2R896|Q9UKU2	Missense_Mutation	SNP	ENST00000216500.5	37	c.490T>G	CCDS9743.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.175887	0.57692	.	.	ENSG00000100612	ENST00000216500;ENST00000360557;ENST00000557185;ENST00000536410	T;T;T	0.54071	0.59;0.59;0.59	5.2	1.66	0.24008	NAD(P)-binding domain (1);	0.065573	0.64402	D	0.000010	T	0.37019	0.0988	L	0.33710	1.025	0.47584	D	0.999469	P;P	0.47604	0.898;0.793	B;B	0.43658	0.426;0.422	T	0.11891	-1.0569	10	0.49607	T	0.09	.	3.1339	0.06433	0.4421:0.0:0.371:0.1869	.	164;164	F8W9Q4;Q9Y394	.;DHRS7_HUMAN	V	164;164;164;114	ENSP00000216500:L164V;ENSP00000451882:L164V;ENSP00000442993:L114V	ENSP00000216500:L164V	L	-	1	2	DHRS7	59689553	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	1.020000	0.30027	0.074000	0.16767	0.460000	0.39030	TTA		0.443	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276947.2	NM_016029		16	174	16	174	---	---	---	---
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170343	20170343	+	RNA	SNP	A	A	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr15:20170343A>G	ENST00000338912.5	-	0	11									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		GGATCCTCCAAGTCCAGCCCA	0.522																																						ENST00000338912.5																			0																				122.0	117.0	118.0					15																	20170343		1890	4123	6013			390531							g.chr15:20170343A>G	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170343A>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	11	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.522	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			6	195	6	195	---	---	---	---
ETFA	2108	broad.mit.edu	37	15	76584842	76584842	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr15:76584842G>A	ENST00000557943.1	-	4	361	c.281C>T	c.(280-282)cCa>cTa	p.P94L	ETFA_ENST00000433983.2_Missense_Mutation_p.P45L|ETFA_ENST00000559602.1_Intron|ETFA_ENST00000560726.1_5'UTR	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	94	Domain I. {ECO:0000269|PubMed:8962055}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity (GO:0016491)	p.P94L(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						CAAAATCAATGGTGTCAGTTC	0.338																																						ENST00000557943.1																			1	Substitution - Missense(1)	p.P94L(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(280-282)cCa>cTa		electron-transfer-flavoprotein, alpha polypeptide							94.0	89.0	91.0					15																	76584842		2197	4294	6491	SO:0001583	missense	2108				respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr15:76584842G>A	J04058	CCDS32299.1, CCDS45311.1	15q23-q25	2012-04-04	2008-08-01		ENSG00000140374	ENSG00000140374			3481	protein-coding gene	gene with protein product	"""glutaric aciduria II"""	608053					Standard	NM_000126		Approved	GA2, EMA, MADD	uc002bbt.2	P13804	OTTHUMG00000172586	ENST00000557943.1:c.281C>T	15.37:g.76584842G>A	ENSP00000452762:p.Pro94Leu		Somatic				ETFA_ENST00000560726.1_5'UTR|ETFA_ENST00000559602.1_Intron|ETFA_ENST00000433983.2_Missense_Mutation_p.P45L	p.P94L	NM_000126.3	NP_000117.1	WXS	Illumina GAIIx	Phase_I	P13804	ETFA_HUMAN			4	361	-			94					B4DT43|Q53XN3	Missense_Mutation	SNP	ENST00000557943.1	37	c.281C>T	CCDS32299.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720904	0.89205	.	.	ENSG00000140374	ENST00000433983;ENST00000267950	D	0.87809	-2.3	5.6	5.6	0.85130	Electron transfer flavoprotein, alpha/beta-subunit, N-terminal (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.93510	0.7929	M	0.83483	2.645	0.80722	D	1	D;D;D	0.64830	0.97;0.994;0.994	P;D;D	0.64042	0.701;0.921;0.921	D	0.93461	0.6810	10	0.52906	T	0.07	-20.5838	18.6133	0.91294	0.0:0.0:1.0:0.0	.	45;94;94	B4DT43;Q53XN3;P13804	.;.;ETFA_HUMAN	L	45;94	ENSP00000399273:P45L	ENSP00000267950:P94L	P	-	2	0	ETFA	74371897	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	9.476000	0.97823	2.636000	0.89361	0.655000	0.94253	CCA		0.338	ETFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419302.2	NM_000126		7	102	7	102	---	---	---	---
ITFG3	83986	broad.mit.edu	37	16	309488	309488	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr16:309488A>G	ENST00000399932.3	+	4	726	c.275A>G	c.(274-276)tAt>tGt	p.Y92C	ITFG3_ENST00000450082.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000600536.1_Missense_Mutation_p.Y92C|ITFG3_ENST00000301678.3_Missense_Mutation_p.Y92C|ITFG3_ENST00000442458.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000301679.2_Missense_Mutation_p.Y92C	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	92						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Y92C(1)		central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TCAGTTATCTATGACTTTCTG	0.453																																						ENST00000399932.3																			1	Substitution - Missense(1)	p.Y92C(1)	prostate(1)	central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(274-276)tAt>tGt		integrin alpha FG-GAP repeat containing 3							266.0	267.0	267.0					16																	309488		1879	4096	5975	SO:0001583	missense	83986					integral to membrane		g.chr16:309488A>G	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.275A>G	16.37:g.309488A>G	ENSP00000382814:p.Tyr92Cys		Somatic				ITFG3_ENST00000442458.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000600536.1_Missense_Mutation_p.Y92C|ITFG3_ENST00000301679.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000301678.3_Missense_Mutation_p.Y92C|ITFG3_ENST00000450082.2_Missense_Mutation_p.Y92C	p.Y92C	NM_001284497.1	NP_001271426.1	WXS	Illumina GAIIx	Phase_I	Q9H0X4	ITFG3_HUMAN			4	726	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	92					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	ENST00000399932.3	37	c.275A>G	CCDS10402.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.81|15.81	2.943197|2.943197	0.53079|0.53079	.|.	.|.	ENSG00000167930|ENSG00000167930	ENST00000421000|ENST00000399932;ENST00000301679;ENST00000419173;ENST00000438220;ENST00000453430;ENST00000442458;ENST00000449945;ENST00000420046;ENST00000301678;ENST00000450082	.|T;T;T;T;T;T;T;T	.|0.57273	.|0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.35|5.35	5.35|5.35	0.76521|0.76521	.|Quinonprotein alcohol dehydrogenase-like (1);	.|0.065881	.|0.64402	.|D	.|0.000006	T|T	0.70535|0.70535	0.3235|0.3235	M|M	0.79805|0.79805	2.47|2.47	0.51233|0.51233	D|D	0.999915|0.999915	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	T|T	0.72043|0.72043	-0.4409|-0.4409	5|10	.|0.42905	.|T	.|0.14	-3.6495|-3.6495	9.5603|9.5603	0.39364|0.39364	0.8433:0.0:0.0:0.1567|0.8433:0.0:0.0:0.1567	.|.	.|92;92	.|Q9H0X4-2;Q9H0X4	.|.;ITFG3_HUMAN	V|C	21|92	.|ENSP00000382814:Y92C;ENSP00000301679:Y92C;ENSP00000399150:Y92C;ENSP00000397477:Y92C;ENSP00000407669:Y92C;ENSP00000398433:Y92C;ENSP00000301678:Y92C;ENSP00000411394:Y92C	.|ENSP00000301678:Y92C	M|Y	+|+	1|2	0|0	ITFG3|ITFG3	249489|249489	0.992000|0.992000	0.36948|0.36948	0.988000|0.988000	0.46212|0.46212	0.737000|0.737000	0.42083|0.42083	2.992000|2.992000	0.49417|0.49417	2.041000|2.041000	0.60428|0.60428	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.453	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		19	369	19	369	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2140788	2140788	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr16:2140788C>T	ENST00000262304.4	-	44	12233	c.12025G>A	c.(12025-12027)Gtg>Atg	p.V4009M	MIR1225_ENST00000408729.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.V4008M|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4009					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.V4009M(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACTGGCGCACGAAGCGTAGC	0.672																																						ENST00000262304.4																			1	Substitution - Missense(1)	p.V4009M(1)	prostate(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(12025-12027)Gtg>Atg		polycystic kidney disease 1 (autosomal dominant)							48.0	50.0	49.0					16																	2140788		2197	4298	6495	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2140788C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.12025G>A	16.37:g.2140788C>T	ENSP00000262304:p.Val4009Met		Somatic				PKD1_ENST00000423118.1_Missense_Mutation_p.V4008M	p.V4009M	NM_001009944.2	NP_001009944	WXS	Illumina GAIIx	Phase_I	P98161	PKD1_HUMAN			44	12233	-			4009					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.12025G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	13.20	2.165028	0.38217	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.70986	-0.53;-0.53	3.25	2.17	0.27698	Polycystin cation channel, PKD1/PKD2 (1);	0.378221	0.23865	U	0.043802	T	0.75280	0.3828	M	0.64997	1.995	0.28244	N	0.925559	D;D	0.76494	0.999;0.999	D;D	0.65684	0.935;0.937	T	0.63703	-0.6577	10	0.34782	T	0.22	.	6.1303	0.20201	0.0:0.6726:0.0:0.3274	.	4008;4009	P98161-3;P98161	.;PKD1_HUMAN	M	4009;4008;3343	ENSP00000262304:V4009M;ENSP00000399501:V4008M	ENSP00000262304:V4009M	V	-	1	0	PKD1	2080789	0.101000	0.21875	0.998000	0.56505	0.709000	0.40893	0.481000	0.22260	1.669000	0.50854	0.306000	0.20318	GTG		0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			14	78	14	78	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3786756	3786756	+	Silent	SNP	A	A	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr16:3786756A>G	ENST00000262367.5	-	27	5264	c.4455T>C	c.(4453-4455)caT>caC	p.H1485H	CREBBP_ENST00000382070.3_Silent_p.H1447H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1485	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.H1485H(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGGGTGGCAATGGAAGATGT	0.512			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		2	Substitution - coding silent(2)	p.H1485H(2)	prostate(2)	NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4453-4455)caT>caC		CREB binding protein							237.0	202.0	214.0					16																	3786756		2197	4300	6497	SO:0001819	synonymous_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3786756A>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4455T>C	16.37:g.3786756A>G			Somatic				CREBBP_ENST00000382070.3_Silent_p.H1447H	p.H1485H	NM_004380.2	NP_004371.2	WXS	Illumina GAIIx	Phase_I	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	27	5264	-		Ovarian(90;0.0266)	1485			Cys/His-rich.|Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.4455T>C	CCDS10509.1																																																																																				0.512	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		16	169	16	169	---	---	---	---
XPO6	23214	broad.mit.edu	37	16	28157508	28157508	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr16:28157508T>C	ENST00000304658.5	-	9	1741	c.1241A>G	c.(1240-1242)tAc>tGc	p.Y414C	XPO6_ENST00000565698.1_Missense_Mutation_p.Y400C	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	414					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.Y414C(3)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ACAAGAGAAGTAACCTTCATG	0.358																																						ENST00000304658.5																			3	Substitution - Missense(3)	p.Y414C(3)	prostate(3)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1240-1242)tAc>tGc		exportin 6							139.0	124.0	129.0					16																	28157508		1825	4078	5903	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28157508T>C	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1241A>G	16.37:g.28157508T>C	ENSP00000302790:p.Tyr414Cys		Somatic				XPO6_ENST00000565698.1_Missense_Mutation_p.Y400C	p.Y414C	NM_015171.3	NP_055986.1	WXS	Illumina GAIIx	Phase_I	Q96QU8	XPO6_HUMAN			9	1741	-			414					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.1241A>G	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122051	0.77436	.	.	ENSG00000169180	ENST00000304658	T	0.59083	0.29	5.07	5.07	0.68467	Armadillo-like helical (1);Armadillo-type fold (1);	0.061384	0.64402	D	0.000002	T	0.72669	0.3489	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;P	0.66847	0.947;0.887	T	0.76421	-0.2965	10	0.87932	D	0	-7.9345	12.9249	0.58254	0.0:0.0:0.0:1.0	.	414;414	B7ZM10;Q96QU8	.;XPO6_HUMAN	C	414	ENSP00000302790:Y414C	ENSP00000302790:Y414C	Y	-	2	0	XPO6	28065009	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.625000	0.83145	1.925000	0.55765	0.524000	0.50904	TAC		0.358	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		5	124	5	124	---	---	---	---
CRK	1398	broad.mit.edu	37	17	1359240	1359240	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr17:1359240A>C	ENST00000300574.2	-	1	312	c.172T>G	c.(172-174)Tcc>Gcc	p.S58A	CRK_ENST00000398970.5_Missense_Mutation_p.S58A|CRK_ENST00000574295.1_Missense_Mutation_p.S58A|CRK_ENST00000572145.1_Intron	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	58	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)	p.S58A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		ATGTAGTGGGAGACGCGCGAG	0.731																																						ENST00000300574.2																			1	Substitution - Missense(1)	p.S58A(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9						c.(172-174)Tcc>Gcc		v-crk avian sarcoma virus CT10 oncogene homolog							26.0	30.0	29.0					17																	1359240		2200	4296	6496	SO:0001583	missense	1398				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding	g.chr17:1359240A>C	D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"""SH2 domain containing"""	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.172T>G	17.37:g.1359240A>C	ENSP00000300574:p.Ser58Ala		Somatic				CRK_ENST00000574295.1_Missense_Mutation_p.S58A|CRK_ENST00000398970.5_Missense_Mutation_p.S58A|CRK_ENST00000572145.1_Intron	p.S58A	NM_016823.3	NP_058431.2	WXS	Illumina GAIIx	Phase_I	P46108	CRK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.083)	1	312	-			58			SH2.		A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Missense_Mutation	SNP	ENST00000300574.2	37	c.172T>G	CCDS11002.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.030651	0.93575	.	.	ENSG00000167193	ENST00000300574;ENST00000398970	D;D	0.88431	-2.38;-2.38	4.72	4.72	0.59763	Src homology-3 domain (1);SH2 motif (5);	0.114545	0.64402	D	0.000009	D	0.91975	0.7458	L	0.50993	1.605	0.80722	D	1	B;D	0.69078	0.019;0.997	B;D	0.91635	0.356;0.999	D	0.92170	0.5743	10	0.56958	D	0.05	-21.9095	12.467	0.55764	1.0:0.0:0.0:0.0	.	58;58	P46108-2;P46108	.;CRK_HUMAN	A	58	ENSP00000300574:S58A;ENSP00000381942:S58A	ENSP00000300574:S58A	S	-	1	0	CRK	1305990	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.807000	0.75201	1.893000	0.54813	0.533000	0.62120	TCC		0.731	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206679.1	NM_016823		7	40	7	40	---	---	---	---
NEURL4	84461	broad.mit.edu	37	17	7221921	7221921	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr17:7221921A>G	ENST00000399464.2	-	23	3772	c.3757T>C	c.(3757-3759)Tct>Cct	p.S1253P	NEURL4_ENST00000315614.7_Missense_Mutation_p.S1251P|NEURL4_ENST00000570460.1_Missense_Mutation_p.S1229P|RP11-542C16.2_ENST00000575474.1_Silent_p.A66A|NEURL4_ENST00000574120.1_5'UTR	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1253	NHR 6. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S1253P(1)|p.S1251P(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCCCCCCAGAGCTGTCCAGC	0.617																																						ENST00000399464.2																			2	Substitution - Missense(2)	p.S1253P(1)|p.S1251P(1)	prostate(2)	central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3757-3759)Tct>Cct		neuralized E3 ubiquitin protein ligase 4							48.0	54.0	52.0					17																	7221921		2037	4183	6220	SO:0001583	missense	84461							g.chr17:7221921A>G		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3757T>C	17.37:g.7221921A>G	ENSP00000382390:p.Ser1253Pro		Somatic				NEURL4_ENST00000574120.1_5'UTR|RP11-542C16.2_ENST00000575474.1_Silent_p.A66A|NEURL4_ENST00000570460.1_Missense_Mutation_p.S1229P|NEURL4_ENST00000315614.7_Missense_Mutation_p.S1251P	p.S1253P	NM_032442.2	NP_115818.2	WXS	Illumina GAIIx	Phase_I					23	3772	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.3757T>C	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	A	9.511	1.105674	0.20632	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.33438	1.41;1.41	5.36	2.98	0.34508	NEUZ (1);	0.211175	0.41605	D	0.000845	T	0.30665	0.0772	M	0.62723	1.935	0.20563	N	0.999889	B;B	0.28880	0.226;0.145	B;B	0.34242	0.178;0.086	T	0.27020	-1.0086	10	0.56958	D	0.05	-0.487	7.0535	0.25085	0.5845:0.28:0.0:0.1355	.	1251;1253	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	P	1251;1253	ENSP00000319826:S1251P;ENSP00000382390:S1253P	ENSP00000319826:S1251P	S	-	1	0	NEURL4	7162645	0.634000	0.27190	0.971000	0.41717	0.004000	0.04260	2.013000	0.40942	0.842000	0.35045	0.460000	0.39030	TCT		0.617	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		8	63	8	63	---	---	---	---
NLE1	54475	broad.mit.edu	37	17	33462276	33462276	+	Silent	SNP	C	C	T			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr17:33462276C>T	ENST00000442241.4	-	10	1245	c.1206G>A	c.(1204-1206)agG>agA	p.R402R	NLE1_ENST00000586869.1_Silent_p.R110R|NLE1_ENST00000360831.5_Silent_p.R360R|NLE1_ENST00000593176.1_5'Flank	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	402					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R402R(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				ACTTGCCCGTCCTGCCATCCC	0.567																																						ENST00000586869.1																			2	Substitution - coding silent(2)	p.R402R(2)	prostate(2)	NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22						c.(328-330)agG>agA		notchless homolog 1 (Drosophila)							165.0	135.0	145.0					17																	33462276		2203	4300	6503	SO:0001819	synonymous_variant	54475					nucleolus		g.chr17:33462276C>T		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.1206G>A	17.37:g.33462276C>T			Somatic				NLE1_ENST00000360831.5_Silent_p.R360R|NLE1_ENST00000442241.4_Silent_p.R402R	p.R110R			WXS	Illumina GAIIx	Phase_I	Q9NVX2	NLE1_HUMAN			9	1349	-		Ovarian(249;0.17)	402					O60868|Q59GJ8|Q9BU54	Silent	SNP	ENST00000442241.4	37	c.330G>A	CCDS11291.1	.	.	.	.	.	.	.	.	.	.	C	9.469	1.095243	0.20471	.	.	ENSG00000073536	ENST00000436188	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	T	0.71945	0.3400	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70353	-0.4895	4	.	.	.	-22.6767	16.0884	0.81073	0.0:1.0:0.0:0.0	.	.	.	.	E	182	.	.	G	-	2	0	NLE1	30486389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.970000	0.29383	2.637000	0.89404	0.650000	0.86243	GGA		0.567	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		9	80	9	80	---	---	---	---
ZNF781	163115	broad.mit.edu	37	19	38160949	38160949	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr19:38160949T>A	ENST00000590008.1	-	5	953	c.101A>T	c.(100-102)gAa>gTa	p.E34V	ZNF781_ENST00000593040.1_5'Flank|ZNF781_ENST00000358582.4_Missense_Mutation_p.E34V|ZFP30_ENST00000586732.1_Intron			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	34					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.E34V(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TATCTGACATTCATAGGGTTT	0.383																																						ENST00000358582.4																			1	Substitution - Missense(1)	p.E34V(1)	prostate(1)	NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(100-102)gAa>gTa		zinc finger protein 781							167.0	164.0	165.0					19																	38160949		2203	4300	6503	SO:0001583	missense	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160949T>A	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.101A>T	19.37:g.38160949T>A	ENSP00000466370:p.Glu34Val		Somatic				ZNF781_ENST00000590008.1_Missense_Mutation_p.E34V|ZFP30_ENST00000586732.1_Intron	p.E34V	NM_152605.3	NP_689818.2	WXS	Illumina GAIIx	Phase_I	Q8N8C0	ZN781_HUMAN			4	849	-			34					Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	c.101A>T	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.574628	0.45902	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.07688	3.17	2.28	2.28	0.28536	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08268	0.0206	L	0.27944	0.81	0.09310	N	1	P	0.35527	0.507	B	0.42653	0.394	T	0.32348	-0.9910	9	0.59425	D	0.04	-1.037	6.3202	0.21213	0.0:0.0:0.2547:0.7453	.	34	Q8N8C0	ZN781_HUMAN	V	34	ENSP00000351391:E34V	ENSP00000351391:E34V	E	-	2	0	ZNF781	42852789	0.000000	0.05858	0.013000	0.15412	0.306000	0.27790	-0.060000	0.11712	1.029000	0.39812	0.338000	0.21704	GAA		0.383	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		21	290	21	290	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70349258	70349258	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chrX:70349258C>T	ENST00000374080.3	+	26	3702	c.3670C>T	c.(3670-3672)Ctc>Ttc	p.L1224F	MED12_ENST00000333646.6_Missense_Mutation_p.L1224F|MED12_ENST00000374102.1_Missense_Mutation_p.L1224F			Q93074	MED12_HUMAN	mediator complex subunit 12	1224					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.L1224F(10)|p.V1223>?(2)|p.L1224V(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTTGCTGTTCTCAAGGCTGT	0.562			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		14	Substitution - Missense(12)|Complex(2)	p.L1224F(10)|p.V1223>?(2)|p.L1224V(2)	prostate(12)|lung(2)	breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3670-3672)Ctc>Ttc		mediator complex subunit 12							49.0	51.0	51.0					X																	70349258		2086	4189	6275	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349258C>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3670C>T	X.37:g.70349258C>T	ENSP00000363193:p.Leu1224Phe		Somatic	OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374080.3_Missense_Mutation_p.L1224F|MED12_ENST00000374102.1_Missense_Mutation_p.L1224F	p.L1224F	NM_005120.2	NP_005111.2	WXS	Illumina GAIIx	Phase_I	Q93074	MED12_HUMAN			26	3869	+	Renal(35;0.156)		1224					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3670C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.946602	0.73672	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.998	T	0.65100	-0.6250	10	0.87932	D	0	-17.5145	17.9253	0.88982	0.0:1.0:0.0:0.0	.	1224;1071;1224;1224	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	F	1224;1224;1224;1224;1192	ENSP00000333125:L1224F;ENSP00000363215:L1224F;ENSP00000363193:L1224F;ENSP00000414203:L1192F	ENSP00000333125:L1224F	L	+	1	0	MED12	70265983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.474000	0.53129	2.509000	0.84616	0.529000	0.55759	CTC		0.562	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		8	33	8	33	---	---	---	---
