#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
LYPLA2	11313	broad.mit.edu	37	1	24123528	24123528	+	IGR	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr1:24123528G>A	ENST00000374514.3	+	0	1810				GALE_ENST00000374497.3_Missense_Mutation_p.S213F|GALE_ENST00000470383.1_5'Flank	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCTTACCTGGGAGACATAAGG	0.587																																						uc009vqo.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(637-639)tCc>tTc		Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA.							71.0	58.0	62.0					1																	24123528		2203	4300	6503	SO:0001628	intergenic_variant	2582				galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity	g.chr1:24123528G>A	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961		1.37:g.24123528G>A						GALE_uc001bhv.1_Missense_Mutation_p.S213F|GALE_uc001bhx.1_Missense_Mutation_p.S213F|GALE_uc001bhz.1_Missense_Mutation_p.S139F	p.S213F	NM_001127621	NP_001121093	Q14376	GALE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	5	848	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	213					Q7Z4Z2	Missense_Mutation	SNP	ENST00000374514.3	37	c.638C>T	CCDS241.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744557	0.89663	.	.	ENSG00000117308	ENST00000374498;ENST00000374497;ENST00000429356;ENST00000418277	D;D;D	0.93247	-3.19;-3.19;-3.19	5.55	5.55	0.83447	NAD-dependent epimerase/dehydratase (1);	0.174887	0.51477	D	0.000096	D	0.94941	0.8364	L	0.35414	1.06	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.977;1.0;1.0	D;D;P;D;D	0.87578	0.994;0.998;0.87;0.997;0.997	D	0.95566	0.8634	10	0.87932	D	0	-21.8604	19.0958	0.93251	0.0:0.0:1.0:0.0	.	149;139;149;213;213	Q5QPP3;B3KQ39;E9PH43;Q38G75;Q14376	.;.;.;.;GALE_HUMAN	F	149;213;149;149	ENSP00000363621:S213F;ENSP00000398585:S149F;ENSP00000414719:S149F	ENSP00000363621:S213F	S	-	2	0	GALE	23996115	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.511000	0.81718	2.620000	0.88729	0.655000	0.94253	TCC		0.587	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1		
MFSD2A	84879	broad.mit.edu	37	1	40431623	40431623	+	Silent	SNP	T	T	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr1:40431623T>C	ENST00000372809.5	+	6	833	c.690T>C	c.(688-690)aaT>aaC	p.N230N	MFSD2A_ENST00000372811.5_Silent_p.N217N|MFSD2A_ENST00000420632.2_Silent_p.N61N|MFSD2A_ENST00000480630.1_3'UTR	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	230					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AGGACCTCAATAGCTCTACAG	0.572																																						uc001cev.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(688-690)aaT>aaC		Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.							125.0	98.0	107.0					1																	40431623		2203	4300	6503	SO:0001819	synonymous_variant	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40431623T>C	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.690T>C	1.37:g.40431623T>C						MFSD2A_uc010ojb.1_Silent_p.N180N|MFSD2A_uc001ceu.3_Silent_p.N217N|MFSD2A_uc010ojc.2_Silent_p.N61N|MFSD2A_uc009vvy.3_Non-coding_Transcript	p.N230N	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN			5	871	+			230					A8K675|Q6UWU5|Q96F59|Q9BRC8	Silent	SNP	ENST00000372809.5	37	c.690T>C	CCDS44118.1																																																																																				0.572	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793	
CYP4Z1	199974	broad.mit.edu	37	1	47583502	47583502	+	Missense_Mutation	SNP	C	C	T	rs145758676		TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr1:47583502C>T	ENST00000334194.3	+	12	1417	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C	CYP4Z1_ENST00000471598.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	472						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						AACTCTGCTCCGCTTCAAGCT	0.468													c|||	1	0.000199681	0.0	0.0	5008	,	,		15724	0.0		0.001	False		,,,				2504	0.0					uc001cqu.1																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(1414-1416)Cgc>Tgc		Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.		C	CYS/ARG	0,4406		0,0,2203	83.0	73.0	77.0		1414	0.9	0.1	1	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYP4Z1	NM_178134.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	472/506	47583502	1,13005	2203	4300	6503	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47583502C>T	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1414C>T	1.37:g.47583502C>T	ENSP00000334246:p.Arg472Cys						p.R472C	NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN			11	1417	+			472					Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.1414C>T	CCDS545.1	.	.	.	.	.	.	.	.	.	.	c	16.11	3.029346	0.54790	0.0	1.16E-4	ENSG00000186160	ENST00000334194	T	0.71103	-0.54	1.87	0.888	0.19206	.	0.165528	0.36854	U	0.002373	T	0.78672	0.4320	M	0.72894	2.215	0.42263	D	0.992025	D	0.89917	1.0	D	0.73380	0.98	T	0.76515	-0.2931	10	0.87932	D	0	.	7.392	0.26915	0.0:0.8486:0.0:0.1514	.	472	Q86W10	CP4Z1_HUMAN	C	472	ENSP00000334246:R472C	ENSP00000334246:R472C	R	+	1	0	CYP4Z1	47356089	0.075000	0.21258	0.082000	0.20525	0.520000	0.34377	1.509000	0.35780	0.160000	0.19432	0.271000	0.19318	CGC		0.468	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134	
ITGA10	8515	broad.mit.edu	37	1	145534987	145534988	+	Frame_Shift_Ins	INS	-	-	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr1:145534987_145534988insG	ENST00000369304.3	+	15	2065_2066	c.1890_1891insG	c.(1891-1893)gtgfs	p.V631fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.V500fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.V488fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	631					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCGATGTGGCTGTGGGTGCCCA	0.579																																						uc001eoa.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1888-1893)gctgtgfs		Homo sapiens integrin, alpha 10 (ITGA10), mRNA.																																				SO:0001589	frameshift_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534987_145534988insG	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1891dupG	1.37:g.145534988_145534988dupG	ENSP00000358310:p.Val631fs					ITGA10_uc010oyv.2_Frame_Shift_Ins_p.A499fs|ITGA10_uc009wiw.3_Frame_Shift_Ins_p.A487fs|ITGA10_uc010oyw.2_Frame_Shift_Ins_p.A575fs	p.A630fs	NM_003637	NP_003628	O75578	ITA10_HUMAN			14	1966_1967	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		630					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Frame_Shift_Ins	INS	ENST00000369304.3	37	c.1890_1891insG	CCDS918.1																																																																																				0.579	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637	
ERCC6	2074	broad.mit.edu	37	10	50690803	50690803	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr10:50690803A>G	ENST00000355832.5	-	10	2177	c.2099T>C	c.(2098-2100)tTg>tCg	p.L700S	ERCC6_ENST00000542458.1_Missense_Mutation_p.L70S	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	700					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAACACAGGCAACGTGCCTAA	0.483								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.4																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2098-2100)tTg>tCg	Direct reversal of damage;Nucleotide excision repair (NER)	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.							102.0	93.0	96.0					10																	50690803		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50690803A>G	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2099T>C	10.37:g.50690803A>G	ENSP00000348089:p.Leu700Ser					ERCC6_uc010qgr.2_Missense_Mutation_p.L70S|ERCC6_uc001jhr.4_Missense_Mutation_p.L100S	p.L700S	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			9	2253	-			700					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.2099T>C	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.622536	0.87460	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.92858	-3.12;-3.12	5.68	5.68	0.88126	DEAD-like helicase (1);SNF2-related (1);	.	.	.	.	D	0.94892	0.8349	M	0.64080	1.96	0.58432	D	0.999991	D;D	0.76494	0.999;0.975	D;P	0.68943	0.961;0.893	D	0.95315	0.8415	9	0.87932	D	0	-15.33	14.5033	0.67737	1.0:0.0:0.0:0.0	.	700;109	Q03468;Q59FF6	ERCC6_HUMAN;.	S	700;109;70	ENSP00000348089:L700S;ENSP00000445134:L70S	ENSP00000348089:L700S	L	-	2	0	ERCC6	50360809	1.000000	0.71417	0.881000	0.34555	0.983000	0.72400	9.312000	0.96287	2.175000	0.68902	0.533000	0.62120	TTG		0.483	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	
NOC3L	64318	broad.mit.edu	37	10	96099659	96099659	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr10:96099659A>G	ENST00000371361.3	-	17	1899	c.1799T>C	c.(1798-1800)gTt>gCt	p.V600A	NOC3L_ENST00000543788.1_Missense_Mutation_p.V338A|NOC3L_ENST00000371350.1_Missense_Mutation_p.V600A	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	600					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TACAATCTCAACACCTTCATT	0.433																																						uc001kjq.1																			0				endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29						c.(1798-1800)gTt>gCt		Homo sapiens nucleolar complex associated 3 homolog (S. cerevisiae) (NOC3L), mRNA.							84.0	79.0	81.0					10																	96099659		2203	4300	6503	SO:0001583	missense	64318					nuclear speck|nucleolus	binding	g.chr10:96099659A>G	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1799T>C	10.37:g.96099659A>G	ENSP00000360412:p.Val600Ala						p.V600A	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN			16	1887	-		Colorectal(252;0.0897)	600					Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	c.1799T>C	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.347213	0.41599	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.19250	2.16;2.16;2.16	5.5	5.5	0.81552	CCAAT-binding factor (1);	0.450054	0.25798	N	0.028227	T	0.10380	0.0254	N	0.13272	0.32	0.22378	N	0.999151	B	0.10296	0.003	B	0.14578	0.011	T	0.32161	-0.9917	10	0.02654	T	1	-11.2391	10.2827	0.43550	0.9263:0.0:0.0737:0.0	.	600	Q8WTT2	NOC3L_HUMAN	A	338;600;600	ENSP00000437838:V338A;ENSP00000360412:V600A;ENSP00000360401:V600A	ENSP00000360401:V600A	V	-	2	0	NOC3L	96089649	0.995000	0.38212	0.720000	0.30636	0.988000	0.76386	5.002000	0.63952	2.226000	0.72624	0.459000	0.35465	GTT		0.433	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	
OR4A16	81327	broad.mit.edu	37	11	55111268	55111268	+	Missense_Mutation	SNP	G	G	T	rs570625324	byFrequency	TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:55111268G>T	ENST00000314721.2	+	1	642	c.592G>T	c.(592-594)Gtt>Ttt	p.V198F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ACTCACTGTGGTTGCCAATGG	0.428													.|||	2	0.000399361	0.0	0.0	5008	,	,		21262	0.0		0.0	False		,,,				2504	0.002					uc010rie.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(592-594)Gtt>Ttt		Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.							266.0	236.0	246.0					11																	55111268		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111268G>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.592G>T	11.37:g.55111268G>T	ENSP00000325128:p.Val198Phe						p.V198F	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			0	592	+			198					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.592G>T	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	6.983	0.551361	0.13374	.	.	ENSG00000181961	ENST00000314721	T	0.00076	8.76	2.54	-0.684	0.11331	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	N	0.04387	-0.21	0.09310	N	1	D	0.53151	0.958	P	0.61070	0.883	T	0.52525	-0.8564	9	0.72032	D	0.01	.	4.1468	0.10220	0.2706:0.2004:0.5289:0.0	.	198	Q8NH70	O4A16_HUMAN	F	198	ENSP00000325128:V198F	ENSP00000325128:V198F	V	+	1	0	OR4A16	54867844	0.000000	0.05858	0.135000	0.22099	0.032000	0.12392	-2.818000	0.00751	-0.010000	0.14271	0.423000	0.28283	GTT		0.428	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274	
OR5I1	10798	broad.mit.edu	37	11	55703585	55703585	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:55703585C>A	ENST00000301532.3	-	1	291	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	98					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGGGCACACCCATAATAGGAA	0.428																																						uc010ris.2																			0		p.G98V(1)|p.G98G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(292-294)Ggg>Tgg		Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.							39.0	40.0	40.0					11																	55703585		2199	4294	6493	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703585C>A	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.292G>T	11.37:g.55703585C>A	ENSP00000301532:p.Gly98Trp						p.G98W	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			0	292	-			98					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.292G>T	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.617215	0.28801	.	.	ENSG00000167825	ENST00000301532	T	0.10099	2.91	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.153361	0.31010	N	0.008425	T	0.39384	0.1076	M	0.88031	2.925	0.09310	N	1	D	0.71674	0.998	D	0.74023	0.982	T	0.35871	-0.9771	10	0.87932	D	0	.	15.8148	0.78592	0.0:1.0:0.0:0.0	.	98	Q13606	OR5I1_HUMAN	W	98	ENSP00000301532:G98W	ENSP00000301532:G98W	G	-	1	0	OR5I1	55460161	0.001000	0.12720	0.308000	0.25141	0.213000	0.24496	1.491000	0.35583	2.385000	0.81259	0.637000	0.83480	GGG		0.428	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637	
OR8K3	219473	broad.mit.edu	37	11	56085869	56085869	+	Silent	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:56085869A>G	ENST00000312711.1	+	1	87	c.87A>G	c.(85-87)gcA>gcG	p.A29A		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CATTATTTGCATTGTTCCTCA	0.433																																						uc010rjf.2																			0				central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(85-87)gcA>gcG		Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.							199.0	179.0	186.0					11																	56085869		2201	4296	6497	SO:0001819	synonymous_variant	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56085869A>G	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.87A>G	11.37:g.56085869A>G							p.A29A	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			0	87	+	Esophageal squamous(21;0.00448)		29					Q6IFC4	Silent	SNP	ENST00000312711.1	37	c.87A>G	CCDS31527.1																																																																																				0.433	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202	
VPS51	738	broad.mit.edu	37	11	64876151	64876151	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:64876151C>T	ENST00000279281.3	+	5	1300	c.1208C>T	c.(1207-1209)gCc>gTc	p.A403V	VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	403					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											GAACGAGTGGCCCGCGAGCGC	0.761																																						uc001ocr.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						c.(1207-1209)gCc>gTc		Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.							4.0	5.0	5.0					11																	64876151		1766	3725	5491	SO:0001583	missense	738				lipid transport|protein transport	Golgi apparatus|integral to membrane		g.chr11:64876151C>T	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.1208C>T	11.37:g.64876151C>T	ENSP00000279281:p.Ala403Val					C11orf2_uc001ocs.1_Missense_Mutation_p.A279V	p.A403V	NM_013265	NP_037397	Q9UID3	FFR_HUMAN			4	1248	+			403					Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	ENST00000279281.3	37	c.1208C>T	CCDS8093.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079317	0.76528	.	.	ENSG00000149823	ENST00000279281	.	.	.	5.19	5.19	0.71726	Cullin repeat-like-containing domain (1);	0.106739	0.64402	D	0.000006	T	0.74313	0.3700	M	0.71581	2.175	0.80722	D	1	D	0.60160	0.987	P	0.57776	0.827	T	0.75448	-0.3314	8	.	.	.	-28.6858	16.2194	0.82247	0.0:1.0:0.0:0.0	.	403	Q9UID3	FFR_HUMAN	V	403	.	.	A	+	2	0	C11orf2	64632727	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.551000	0.82182	2.420000	0.82092	0.549000	0.68633	GCC		0.761	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265	
OR8D4	338662	broad.mit.edu	37	11	123777373	123777373	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:123777373C>A	ENST00000321355.2	+	1	265	c.235C>A	c.(235-237)Cct>Act	p.P79T		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGTCATTACCCCTAAAATGCT	0.358																																						uc010saa.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(235-237)Cct>Act		Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.							258.0	256.0	256.0					11																	123777373		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777373C>A	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.235C>A	11.37:g.123777373C>A	ENSP00000325381:p.Pro79Thr						p.P79T	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	0	235	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	79					Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.235C>A	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812808	0.70912	.	.	ENSG00000181518	ENST00000321355	T	0.01854	4.6	5.81	5.81	0.92471	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000237	T	0.24275	0.0588	H	0.96691	3.865	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	T	0.31586	-0.9938	10	0.87932	D	0	.	18.8542	0.92244	0.0:1.0:0.0:0.0	.	79	Q8NGM9	OR8D4_HUMAN	T	79	ENSP00000325381:P79T	ENSP00000325381:P79T	P	+	1	0	OR8D4	123282583	0.999000	0.42202	0.910000	0.35882	0.513000	0.34164	5.890000	0.69774	2.744000	0.94065	0.655000	0.94253	CCT		0.358	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197	
VSIG2	23584	broad.mit.edu	37	11	124618351	124618351	+	Silent	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:124618351G>A	ENST00000326621.5	-	6	886	c.786C>T	c.(784-786)tgC>tgT	p.C262C	VSIG2_ENST00000403470.1_Silent_p.C262C|RP11-677M14.2_ENST00000531241.1_RNA	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	262						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ACCTGACCAGGCAGAACGCAG	0.617																																						uc001qas.3																			0		p.F261F(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19						c.(784-786)tgC>tgT		Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.							110.0	98.0	102.0					11																	124618351		2201	4299	6500	SO:0001819	synonymous_variant	23584					integral to plasma membrane|membrane fraction		g.chr11:124618351G>A	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.786C>T	11.37:g.124618351G>A						VSIG2_uc001qat.3_Silent_p.C262C	p.C262C	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	5	862	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	262					O95791|Q9NX42	Silent	SNP	ENST00000326621.5	37	c.786C>T	CCDS8452.1																																																																																				0.617	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312	
CD163L1	283316	broad.mit.edu	37	12	7527492	7527492	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr12:7527492C>A	ENST00000313599.3	-	12	3086	c.3029G>T	c.(3028-3030)tGc>tTc	p.C1010F	CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Missense_Mutation_p.C1020F|CD163L1_ENST00000396630.1_Missense_Mutation_p.C1010F			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1010						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTTGCGAGGCATGGAAACAG	0.463											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010sge.2																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3058-3060)tGc>tTc		Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.							78.0	73.0	75.0					12																	7527492		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7527492C>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3029G>T	12.37:g.7527492C>A	ENSP00000315945:p.Cys1010Phe		OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	642	CD163L1_uc001qsy.3_Missense_Mutation_p.C1010F	p.C1020F	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			11	3085	-			1010					B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3059G>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023103	0.35701	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.01527	4.81;4.81;4.8	3.4	1.33	0.21861	.	1.796050	0.03261	U	0.183305	T	0.07369	0.0186	L	0.59436	1.845	0.09310	N	1	D;D	0.69078	0.964;0.997	B;D	0.65010	0.445;0.931	T	0.23404	-1.0189	10	0.52906	T	0.07	.	6.2521	0.20852	0.2102:0.5852:0.2046:0.0	.	1020;1010	E7EVK4;Q9NR16	.;C163B_HUMAN	F	1010;1020;1010	ENSP00000315945:C1010F;ENSP00000393474:C1020F;ENSP00000379871:C1010F	ENSP00000315945:C1010F	C	-	2	0	CD163L1	7418759	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.336000	0.07863	0.156000	0.19299	0.456000	0.33151	TGC		0.463	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
SCAF11	9169	broad.mit.edu	37	12	46357935	46357935	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr12:46357935C>T	ENST00000369367.3	-	2	249	c.16G>A	c.(16-18)Gta>Ata	p.V6I	SCAF11_ENST00000419565.2_Missense_Mutation_p.V6I|SCAF11_ENST00000395453.2_Missense_Mutation_p.V6I|SCAF11_ENST00000395454.2_Missense_Mutation_p.V6I	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	6					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AGGGTACATACAGTTTTCTTC	0.279																																						uc001rox.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(16-18)Gta>Ata		Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.							86.0	80.0	82.0					12																	46357935		1784	4051	5835	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46357935C>T	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.16G>A	12.37:g.46357935C>T	ENSP00000358374:p.Val6Ile					SCAF11_uc001roy.1_Missense_Mutation_p.V70I|SCAF11_uc009zki.1_Non-coding_Transcript|SCAF11_uc001roz.3_Missense_Mutation_p.V6I	p.V6I	NM_004719	NP_004710	Q99590	SCAFB_HUMAN			1	303	-			6					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.16G>A	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	8.673	0.903400	0.17760	.	.	ENSG00000139218	ENST00000369367;ENST00000419565;ENST00000266589;ENST00000395454;ENST00000395453	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.92	-1.29	0.09288	.	2.721200	0.02482	N	0.088614	T	0.26919	0.0659	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.001;0.003	T	0.06625	-1.0816	10	0.24483	T	0.36	-1.0359	1.8217	0.03112	0.1178:0.1943:0.3382:0.3498	.	6;6	A8MUK0;Q99590	.;SCAFB_HUMAN	I	6;6;22;6;6	ENSP00000358374:V6I;ENSP00000413036:V6I;ENSP00000266589:V22I;ENSP00000378840:V6I;ENSP00000378839:V6I	ENSP00000266589:V22I	V	-	1	0	SCAF11	44644202	0.000000	0.05858	0.002000	0.10522	0.844000	0.47949	-1.089000	0.03376	-0.107000	0.12088	0.561000	0.74099	GTA		0.279	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719	
GRIP1	23426	broad.mit.edu	37	12	66773075	66773075	+	Missense_Mutation	SNP	C	C	T	rs145115262	byFrequency	TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr12:66773075C>T	ENST00000398016.3	-	19	2518	c.2450G>A	c.(2449-2451)cGg>cAg	p.R817Q	GRIP1_ENST00000359742.4_Missense_Mutation_p.R869Q|GRIP1_ENST00000286445.7_Missense_Mutation_p.R869Q	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGCTGTGGACCGGTCCCAGTC	0.517													C|||	15	0.00299521	0.0008	0.0058	5008	,	,		17397	0.003		0.007	False		,,,				2504	0.0					uc001stk.3																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(2449-2451)cGg>cAg		Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.		C	GLN/ARG,GLN/ARG	9,3877		0,9,1934	169.0	165.0	166.0		2450,2450	2.0	1.0	12	dbSNP_134	166	69,8193		0,69,4062	yes	missense,missense	GRIP1	NM_001178074.1,NM_021150.3	43,43	0,78,5996	TT,TC,CC		0.8351,0.2316,0.6421	benign,benign	817/1062,817/1077	66773075	78,12070	1943	4131	6074	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66773075C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2450G>A	12.37:g.66773075C>T	ENSP00000381098:p.Arg817Gln					GRIP1_uc010sta.1_Missense_Mutation_p.R761Q|GRIP1_uc001stj.3_Missense_Mutation_p.R599Q|GRIP1_uc001stm.3_Missense_Mutation_p.R817Q|GRIP1_uc001stl.1_Missense_Mutation_p.R709Q	p.R817Q	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	18	2691	-			869					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.2450G>A	CCDS41807.1	6|6	0.0027472527472527475|0.0027472527472527475	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	5|5	0.006596306068601583|0.006596306068601583	C|C	13.77|13.77	2.337222|2.337222	0.41398|0.41398	0.002316|0.002316	0.008351|0.008351	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.|T;T;T;T;T;T	.|0.81415	.|-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	4.8|4.8	1.95|1.95	0.26073|0.26073	.|.	.|0.233910	.|0.42294	.|N	.|0.000731	T|T	0.69178|0.69178	0.3082|0.3082	M|M	0.62723|0.62723	1.935|1.935	0.44129|0.44129	D|D	0.996911|0.996911	.|P;P;P;D	.|0.54397	.|0.911;0.88;0.956;0.966	.|B;B;B;B	.|0.43018	.|0.173;0.108;0.297;0.405	T|T	0.69124|0.69124	-0.5228|-0.5228	5|9	.|.	.|.	.|.	-5.1095|-5.1095	9.3305|9.3305	0.38018|0.38018	0.0:0.7035:0.0:0.2965|0.0:0.7035:0.0:0.2965	.|.	.|817;869;817;869	.|F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.|.;GRIP1_HUMAN;.;.	S|Q	684|817;869;869;817;761;709	.|ENSP00000381098:R817Q;ENSP00000352780:R869Q;ENSP00000286445:R869Q;ENSP00000446047:R817Q;ENSP00000446024:R761Q;ENSP00000446011:R709Q	.|.	G|R	-|-	1|2	0|0	GRIP1|GRIP1	65059342|65059342	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.988000|0.988000	0.76386|0.76386	2.867000|2.867000	0.48428|0.48428	0.317000|0.317000	0.23160|0.23160	-0.258000|-0.258000	0.10820|0.10820	GGT|CGG		0.517	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
LRRC43	254050	broad.mit.edu	37	12	122672375	122672375	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr12:122672375C>T	ENST00000339777.4	+	4	678	c.650C>T	c.(649-651)aCc>aTc	p.T217I	LRRC43_ENST00000425921.1_Missense_Mutation_p.T32I	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	217										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCTACGTCACCGCTAATCAC	0.562																																						uc009zxm.3																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(649-651)aCc>aTc		Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.							59.0	60.0	60.0					12																	122672375		1932	4133	6065	SO:0001583	missense	254050							g.chr12:122672375C>T	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.650C>T	12.37:g.122672375C>T	ENSP00000344233:p.Thr217Ile					LRRC43_uc001ubw.4_Missense_Mutation_p.T32I|LRRC43_uc009zxn.3_5'Flank|LRRC43_uc009zxl.1_Non-coding_Transcript	p.T217I	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	3	675	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		217					Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.650C>T	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053464	0.75960	.	.	ENSG00000158113	ENST00000537729;ENST00000339777;ENST00000289014;ENST00000425921	T;T;T	0.22134	1.97;1.97;1.97	4.63	4.63	0.57726	.	0.142257	0.45867	D	0.000339	T	0.40448	0.1117	L	0.51422	1.61	0.40389	D	0.97952	D	0.76494	0.999	D	0.68943	0.961	T	0.21314	-1.0249	10	0.44086	T	0.13	-32.6884	17.4427	0.87569	0.0:1.0:0.0:0.0	.	217	Q8N309	LRC43_HUMAN	I	32;217;32;32	ENSP00000438751:T32I;ENSP00000344233:T217I;ENSP00000416628:T32I	ENSP00000289014:T32I	T	+	2	0	LRRC43	121238328	0.999000	0.42202	0.660000	0.29694	0.006000	0.05464	5.340000	0.65958	2.252000	0.74401	0.561000	0.74099	ACC		0.562	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759	
NBEA	26960	broad.mit.edu	37	13	35685025	35685025	+	Missense_Mutation	SNP	G	G	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr13:35685025G>C	ENST00000400445.3	+	13	2446	c.1912G>C	c.(1912-1914)Gga>Cga	p.G638R	NBEA_ENST00000379939.2_Missense_Mutation_p.G638R|NBEA_ENST00000310336.4_Missense_Mutation_p.G638R|NBEA_ENST00000540320.1_Missense_Mutation_p.G638R	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	638					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACGCAGAGTAGGAACAGTATT	0.368																																						uc021rid.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(1912-1914)Gga>Cga		Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.							79.0	75.0	77.0					13																	35685025		1884	4107	5991	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35685025G>C	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1912G>C	13.37:g.35685025G>C	ENSP00000383295:p.Gly638Arg					NBEA_uc021ric.1_Missense_Mutation_p.G638R	p.G638R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	12	2446	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	638					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.1912G>C	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128583	0.77549	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.62853	0.2462	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59669	-0.7411	10	0.27785	T	0.31	.	18.1255	0.89584	0.0:0.0:1.0:0.0	.	638	Q5T321	.	R	638	ENSP00000440951:G638R;ENSP00000383295:G638R;ENSP00000369271:G638R;ENSP00000308534:G638R	ENSP00000308534:G638R	G	+	1	0	NBEA	34583025	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.009000	0.88606	2.282000	0.76494	0.655000	0.94253	GGA		0.368	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
IRS2	8660	broad.mit.edu	37	13	110434967	110434968	+	Frame_Shift_Ins	INS	-	-	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr13:110434967_110434968insG	ENST00000375856.3	-	1	3947_3948	c.3433_3434insC	c.(3433-3435)cgcfs	p.R1145fs		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1145					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ACTGTGGCGGCGGCGGCCCCCC	0.723																																					Melanoma(100;613 2409 40847)	uc001vqv.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(3433-3435)cgcfs		Homo sapiens insulin receptor substrate 2 (IRS2), mRNA.																																				SO:0001589	frameshift_variant	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110434967_110434968insG	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3434dupC	13.37:g.110434969_110434969dupG	ENSP00000365016:p.Arg1145fs						p.R1145fs	NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		0	3947_3948	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	1145					Q96RR2|Q9BZG0|Q9Y6I5	Frame_Shift_Ins	INS	ENST00000375856.3	37	c.3433_3434insC	CCDS9510.1																																																																																				0.723	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749	
OR4K2	390431	broad.mit.edu	37	14	20344857	20344857	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr14:20344857T>C	ENST00000298642.2	+	1	467	c.431T>C	c.(430-432)cTc>cCc	p.L144P		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGTTGCTCTCGTGGTGGCT	0.463																																						uc001vwh.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(430-432)cTc>cCc		Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.							297.0	296.0	296.0					14																	20344857		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344857T>C		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.431T>C	14.37:g.20344857T>C	ENSP00000298642:p.Leu144Pro						p.L144P	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	431	+	all_cancers(95;0.00108)		144					B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.431T>C	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	11.96	1.795412	0.31777	.	.	ENSG00000165762	ENST00000298642	T	0.45276	0.9	5.12	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	0.591665	0.14305	N	0.328022	T	0.71592	0.3358	H	0.96604	3.85	0.09310	N	0.999996	D	0.76494	0.999	D	0.75484	0.986	T	0.60717	-0.7208	10	0.87932	D	0	.	6.8151	0.23826	0.1494:0.0:0.1556:0.6949	.	144	Q8NGD2	OR4K2_HUMAN	P	144	ENSP00000298642:L144P	ENSP00000298642:L144P	L	+	2	0	OR4K2	19414697	0.267000	0.24122	0.132000	0.22025	0.549000	0.35272	3.154000	0.50693	0.929000	0.37192	0.460000	0.39030	CTC		0.463	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1		
PCNX	22990	broad.mit.edu	37	14	71540387	71540387	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr14:71540387C>T	ENST00000304743.2	+	27	5424	c.4978C>T	c.(4978-4980)Cga>Tga	p.R1660*	PCNX_ENST00000238570.5_Nonsense_Mutation_p.R1588*|PCNX_ENST00000439984.3_Nonsense_Mutation_p.R1549*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1660						integral component of membrane (GO:0016021)		p.R1660*(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATTTAGCCAGCGATGGCTAGC	0.438																																						uc001xmo.2																			1	Substitution - Nonsense(1)	p.R1660*(2)	large_intestine(1)	NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(4978-4980)Cga>Tga		Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.							237.0	208.0	218.0					14																	71540387		2203	4300	6503	SO:0001587	stop_gained	22990					integral to membrane		g.chr14:71540387C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4978C>T	14.37:g.71540387C>T	ENSP00000304192:p.Arg1660*					PCNX_uc010are.1_Nonsense_Mutation_p.R1549*|PCNX_uc010arf.1_Nonsense_Mutation_p.R448*	p.R1660*	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	26	5424	+			1660					B2RTR6|O94897|Q96AI7|Q9Y2J9	Nonsense_Mutation	SNP	ENST00000304743.2	37	c.4978C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	36	5.848689	0.97023	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	.	.	.	4.97	4.08	0.47627	.	0.044134	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5025	0.61465	0.0:0.9248:0.0:0.0752	.	.	.	.	X	1660;1588;1549	.	ENSP00000238570:R1588X	R	+	1	2	PCNX	70610140	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.278000	0.78587	1.457000	0.47850	0.650000	0.86243	CGA		0.438	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	
EML5	161436	broad.mit.edu	37	14	89168805	89168805	+	Silent	SNP	G	G	A	rs371578525		TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr14:89168805G>A	ENST00000380664.5	-	14	2222	c.2223C>T	c.(2221-2223)taC>taT	p.Y741Y	EML5_ENST00000554922.1_Silent_p.Y741Y|EML5_ENST00000352093.5_Silent_p.Y741Y			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	741						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTGTTGCCACGTAGTCTTTCA	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14776	0.0		0.0	False		,,,				2504	0.0					uc021ryf.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2221-2223)taC>taT		Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.		G		2,3766		0,2,1882	88.0	81.0	83.0		2223	-2.2	1.0	14		83	0,8204		0,0,4102	no	coding-synonymous	EML5	NM_183387.2		0,2,5984	AA,AG,GG		0.0,0.0531,0.0167		741/1978	89168805	2,11970	1884	4102	5986	SO:0001819	synonymous_variant	161436					cytoplasm|microtubule		g.chr14:89168805G>A	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2223C>T	14.37:g.89168805G>A						EML5_uc021ryg.1_Silent_p.Y741Y|EML5_uc001xxh.1_5'UTR	p.Y741Y	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			13	2472	-			741					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	c.2223C>T	CCDS45148.1																																																																																				0.368	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
AQR	9716	broad.mit.edu	37	15	35168164	35168164	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr15:35168164A>G	ENST00000156471.5	-	28	3434	c.3209T>C	c.(3208-3210)aTa>aCa	p.I1070T		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1070					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAAAGTTTCTATCTCCAGAAT	0.358																																						uc001ziv.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(3208-3210)aTa>aCa		Homo sapiens aquarius homolog (mouse) (AQR), mRNA.							100.0	97.0	98.0					15																	35168164		1826	4079	5905	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35168164A>G	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3209T>C	15.37:g.35168164A>G	ENSP00000156471:p.Ile1070Thr						p.I1070T	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	27	3390	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	1070					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.3209T>C	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178566	0.78564	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.82433	-1.61	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.90672	0.7074	M	0.80028	2.48	0.58432	D	0.999997	D	0.63046	0.992	D	0.68765	0.96	D	0.91990	0.5602	10	0.72032	D	0.01	-18.3903	14.7525	0.69536	1.0:0.0:0.0:0.0	.	1070	O60306	AQR_HUMAN	T	1070	ENSP00000156471:I1070T	ENSP00000156471:I1070T	I	-	2	0	AQR	32955456	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.333000	0.96459	1.880000	0.54463	0.528000	0.53228	ATA		0.358	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691	
AQR	9716	broad.mit.edu	37	15	35168175	35168175	+	Silent	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr15:35168175C>T	ENST00000156471.5	-	28	3423	c.3198G>A	c.(3196-3198)caG>caA	p.Q1066Q		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1066					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCTCCAGAATCTGAGCAGCCT	0.353																																						uc001ziv.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(3196-3198)caG>caA		Homo sapiens aquarius homolog (mouse) (AQR), mRNA.							92.0	90.0	91.0					15																	35168175		1828	4079	5907	SO:0001819	synonymous_variant	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35168175C>T	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3198G>A	15.37:g.35168175C>T							p.Q1066Q	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	27	3379	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	1066					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	37	c.3198G>A	CCDS42013.1																																																																																				0.353	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691	
NOX5	79400	broad.mit.edu	37	15	69324094	69324094	+	Nonsense_Mutation	SNP	G	G	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr15:69324094G>T	ENST00000388866.3	+	4	603	c.562G>T	c.(562-564)Gag>Tag	p.E188*	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Nonsense_Mutation_p.E170*|NOX5_ENST00000530406.2_Nonsense_Mutation_p.E160*|NOX5_ENST00000448182.3_Nonsense_Mutation_p.E142*|NOX5_ENST00000455873.3_Nonsense_Mutation_p.E153*	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	188	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CATCACCTTCGAGGAGCTCCG	0.677																																						uc002ars.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(562-564)Gag>Tag		Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.							20.0	20.0	20.0					15																	69324094		2200	4298	6498	SO:0001587	stop_gained	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69324094G>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.562G>T	15.37:g.69324094G>T	ENSP00000373518:p.Glu188*					MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Nonsense_Mutation_p.E142*|NOX5_uc002arp.2_Nonsense_Mutation_p.E170*|NOX5_uc010bid.2_Nonsense_Mutation_p.E153*|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Nonsense_Mutation_p.E160*|NOX5_uc010bif.2_Non-coding_Transcript	p.E188*	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			3	603	+			188			EF-hand 4.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Nonsense_Mutation	SNP	ENST00000388866.3	37	c.562G>T	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	G	33	5.290092	0.95546	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	.	.	.	3.33	3.33	0.38152	.	0.545250	0.17672	U	0.165929	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	9.6032	0.39617	0.0:0.3722:0.6278:0.0	.	.	.	.	X	153;170;188;160	.	ENSP00000373518:E188X	E	+	1	0	NOX5	67111148	1.000000	0.71417	0.954000	0.39281	0.348000	0.29142	3.623000	0.54224	1.438000	0.47492	0.485000	0.47835	GAG		0.677	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505	
DNM1P47	100216544	broad.mit.edu	37	15	102292797	102292797	+	RNA	SNP	C	C	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr15:102292797C>G	ENST00000561463.1	+	0	843									DNM1 pseudogene 47									p.P129A(2)									GAGCTGCTGTCCAACCTGCAC	0.597																																						uc010usj.2																			2	Substitution - Missense(2)	p.P129A(2)	urinary_tract(1)|lung(1)								c.(385-387)Cca>Gca		Homo sapiens cDNA clone IMAGE:40009338.																																						100216544							g.chr15:102292797C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292797C>G						DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank	p.P129A							3	444	+									Missense_Mutation	SNP	ENST00000561463.1	37	c.385C>G																																																																																					0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149	
PAPD5	64282	broad.mit.edu	37	16	50263117	50263117	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr16:50263117C>G	ENST00000561678.1	+	11	1719	c.1645C>G	c.(1645-1647)Caa>Gaa	p.Q549E	PAPD5_ENST00000436909.3_Missense_Mutation_p.Q659E|PAPD5_ENST00000357464.3_Missense_Mutation_p.Q580E|PAPD5_ENST00000573002.1_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	533					histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGGTACAACTCAAACAAGCCA	0.433																																						uc010vgo.2																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(1975-1977)Caa>Gaa		Homo sapiens PAP associated domain containing 5 (PAPD5), transcript variant 1, mRNA.							94.0	87.0	89.0					16																	50263117		1902	4128	6030	SO:0001583	missense	64282				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr16:50263117C>G	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.1645C>G	16.37:g.50263117C>G	ENSP00000455837:p.Gln549Glu					PAPD5_uc002efz.3_Missense_Mutation_p.Q612E|PAPD5_uc010cbi.2_Intron	p.Q659E	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	12	2010	+		all_cancers(37;0.0452)	533					B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37	c.1975C>G		.	.	.	.	.	.	.	.	.	.	C	14.82	2.648539	0.47258	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.43688	0.94;0.96	5.66	5.66	0.87406	.	0.591213	0.17304	N	0.179134	T	0.25195	0.0612	N	0.08118	0	0.29244	N	0.872468	B;B	0.27791	0.189;0.017	B;B	0.24541	0.054;0.004	T	0.12451	-1.0547	10	0.33940	T	0.23	.	14.4694	0.67506	0.1825:0.8175:0.0:0.0	.	659;533	B4DV38;Q8NDF8	.;PAPD5_HUMAN	E	659;580	ENSP00000396995:Q659E;ENSP00000350054:Q580E	ENSP00000350054:Q580E	Q	+	1	0	PAPD5	48820618	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	4.007000	0.57093	2.662000	0.90505	0.650000	0.86243	CAA		0.433	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447	
INPP5K	51763	broad.mit.edu	37	17	1419767	1419767	+	Silent	SNP	C	C	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr17:1419767C>G	ENST00000421807.2	-	1	415	c.27G>C	c.(25-27)ccG>ccC	p.P9P	INPP5K_ENST00000397335.3_5'UTR|INPP5K_ENST00000542125.1_Silent_p.P9P|INPP5K_ENST00000320345.6_5'UTR|PITPNA-AS1_ENST00000425081.2_RNA|INPP5K_ENST00000406424.4_5'UTR	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	9					actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						TCCTGCCTTTCGGCCCGCTCA	0.756																																						uc002fsr.3																			0				endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						c.(25-27)ccG>ccC		Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA.							11.0	11.0	11.0					17																	1419767		2156	4221	6377	SO:0001819	synonymous_variant	51763				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding	g.chr17:1419767C>G		CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"""skeletal muscle and kidney enriched inositol phosphatase"""	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.27G>C	17.37:g.1419767C>G						INPP5K_uc002fss.3_5'UTR|INPP5K_uc002fsq.3_5'UTR|INPP5K_uc010cjr.3_5'UTR|INPP5K_uc010vql.2_5'UTR|INPP5K_uc010vqm.2_Silent_p.P9P|INPP5K_uc010cjs.2_Silent_p.P9P|LOC100306951_uc021tne.1_5'Flank	p.P9P	NM_016532	NP_570122	Q9BT40	INP5K_HUMAN			0	416	-			9					B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Silent	SNP	ENST00000421807.2	37	c.27G>C	CCDS11004.1																																																																																				0.756	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4		
PHF12	57649	broad.mit.edu	37	17	27233967	27233967	+	Missense_Mutation	SNP	T	T	C	rs374710227		TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr17:27233967T>C	ENST00000332830.4	-	14	3397	c.2587A>G	c.(2587-2589)Acg>Gcg	p.T863A	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TTGTCCACCGTTGTCCCATGC	0.507																																						uc002hdg.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(2587-2589)Acg>Gcg		Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.		T	ALA/THR	1,4405	2.1+/-5.4	0,1,2202	221.0	197.0	205.0		2587	5.1	1.0	17		205	0,8600		0,0,4300	no	missense	PHF12	NM_001033561.1	58	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	863/1005	27233967	1,13005	2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27233967T>C	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2587A>G	17.37:g.27233967T>C	ENSP00000329933:p.Thr863Ala					PHF12_uc010wbb.1_Missense_Mutation_p.T845A	p.T863A	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		13	3117	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		863			FHA.			Missense_Mutation	SNP	ENST00000332830.4	37	c.2587A>G	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.423509	0.62733	2.27E-4	0.0	ENSG00000109118	ENST00000332830	T	0.42131	0.98	5.14	5.14	0.70334	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.054900	0.64402	D	0.000001	T	0.59851	0.2224	L	0.59436	1.845	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.72625	0.978;0.978	T	0.62599	-0.6820	10	0.66056	D	0.02	-25.9118	13.921	0.63930	0.0:0.0:0.0:1.0	.	845;863	B4DFE2;Q96QT6	.;PHF12_HUMAN	A	863	ENSP00000329933:T863A	ENSP00000329933:T863A	T	-	1	0	PHF12	24258093	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.113000	0.77095	2.155000	0.67459	0.460000	0.39030	ACG		0.507	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889	
DSG3	1830	broad.mit.edu	37	18	29052357	29052357	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr18:29052357G>A	ENST00000257189.4	+	13	2091	c.2008G>A	c.(2008-2010)Gga>Aga	p.G670R		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	670					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCATCAGTGGGGAATTGAAGG	0.428																																						uc002kws.3																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(2008-2010)Gga>Aga		Homo sapiens desmoglein 3 (DSG3), mRNA.							91.0	93.0	92.0					18																	29052357		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29052357G>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2008G>A	18.37:g.29052357G>A	ENSP00000257189:p.Gly670Arg					DSG3_uc002kwt.3_5'Flank	p.G670R	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		12	2117	+			670					A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2008G>A	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.134976	0.37728	.	.	ENSG00000134757	ENST00000257189	T	0.52295	0.67	5.73	3.93	0.45458	.	0.276635	0.25192	N	0.032453	T	0.35278	0.0926	L	0.39245	1.2	0.42961	D	0.994407	B	0.23058	0.079	B	0.19946	0.027	T	0.10132	-1.0643	10	0.26408	T	0.33	.	8.3175	0.32108	0.1407:0.139:0.7203:0.0	.	670	P32926	DSG3_HUMAN	R	670	ENSP00000257189:G670R	ENSP00000257189:G670R	G	+	1	0	DSG3	27306355	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.952000	0.29149	0.753000	0.32945	0.467000	0.42956	GGA		0.428	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
S1PR4	8698	broad.mit.edu	37	19	3179828	3179828	+	Silent	SNP	C	C	T	rs147906636	byFrequency	TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr19:3179828C>T	ENST00000246115.3	+	1	1093	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	346					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						AGGCTCACTCCGGAGCTTCCA	0.687													C|||	2	0.000399361	0.0	0.0014	5008	,	,		15667	0.001		0.0	False		,,,				2504	0.0				GBM(82;318 1638 33279 49708)	uc002lxg.3																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(1036-1038)tcC>tcT		Homo sapiens sphingosine-1-phosphate receptor 4 (S1PR4), mRNA.		C		1,4389		0,1,2194	42.0	51.0	48.0		1038	-6.9	0.0	19	dbSNP_134	48	9,8555		0,9,4273	no	coding-synonymous	S1PR4	NM_003775.3		0,10,6467	TT,TC,CC		0.1051,0.0228,0.0772		346/385	3179828	10,12944	2195	4282	6477	SO:0001819	synonymous_variant	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179828C>T	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.1038C>T	19.37:g.3179828C>T							p.S346S	NM_003775	NP_003766	O95977	S1PR4_HUMAN			0	1093	+			346					D6W612	Silent	SNP	ENST00000246115.3	37	c.1038C>T	CCDS12105.1																																																																																				0.687	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775	
TYK2	7297	broad.mit.edu	37	19	10463654	10463654	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr19:10463654C>T	ENST00000525621.1	-	22	3629	c.3148G>A	c.(3148-3150)Gaa>Aaa	p.E1050K	TYK2_ENST00000529422.1_Intron|TYK2_ENST00000524462.1_Missense_Mutation_p.E865K|TYK2_ENST00000264818.6_Missense_Mutation_p.E1050K	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1050	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCGTGGCCTTCGGGCACGGCC	0.652																																						uc002moc.4																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3148-3150)Gaa>Aaa		Homo sapiens tyrosine kinase 2 (TYK2), mRNA.							82.0	67.0	72.0					19																	10463654		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10463654C>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3148G>A	19.37:g.10463654C>T	ENSP00000431885:p.Glu1050Lys					TYK2_uc010dxe.3_Missense_Mutation_p.E865K	p.E1050K	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		21	3526	-			1050			Protein kinase 2.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.3148G>A	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847609	0.91277	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529739	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.54	5.54	0.83059	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.293115	0.24585	N	0.037277	T	0.71821	0.3385	N	0.20685	0.6	0.58432	D	0.999996	B	0.32620	0.378	B	0.31547	0.132	T	0.68800	-0.5313	10	0.14252	T	0.57	-11.5444	17.0338	0.86468	0.0:1.0:0.0:0.0	.	1050	P29597	TYK2_HUMAN	K	865;1050;1050;797;73	ENSP00000433203:E865K;ENSP00000431885:E1050K;ENSP00000264818:E1050K;ENSP00000436155:E73K	ENSP00000264818:E1050K	E	-	1	0	TYK2	10324654	0.543000	0.26434	1.000000	0.80357	0.992000	0.81027	1.568000	0.36418	2.636000	0.89361	0.555000	0.69702	GAA		0.652	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1		
ZNF540	163255	broad.mit.edu	37	19	38103690	38103690	+	Silent	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr19:38103690C>T	ENST00000592533.1	+	5	1841	c.1509C>T	c.(1507-1509)acC>acT	p.T503T	ZNF540_ENST00000316433.4_Silent_p.T503T|ZNF540_ENST00000589117.1_Silent_p.T471T|ZNF540_ENST00000343599.5_Silent_p.T503T	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	503					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGGGAAGACCTTTAGATTTG	0.393																																						uc002ogq.3																			0											c.(1507-1509)acC>acT		Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA.							91.0	93.0	92.0					19																	38103690		2203	4300	6503	SO:0001819	synonymous_variant	163255							g.chr19:38103690C>T	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1509C>T	19.37:g.38103690C>T						LOC100507433_uc002ogu.3_Silent_p.T503T|LOC100507433_uc010efq.3_Silent_p.T471T	p.T503T	NM_152606	NP_689819					4	1876	+								A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Silent	SNP	ENST00000592533.1	37	c.1509C>T	CCDS12506.1																																																																																				0.393	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606	
CD33	945	broad.mit.edu	37	19	51728575	51728575	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr19:51728575A>T	ENST00000262262.4	+	2	160	c.139A>T	c.(139-141)Ata>Tta	p.I47L	CD33_ENST00000391796.3_Missense_Mutation_p.I47L|CD33_ENST00000421133.2_Intron|CD33_ENST00000436584.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	47	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CTTCCATCCCATACCCTACTA	0.532																																						uc002pwa.2																			0		p.P46H(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24						c.(139-141)Ata>Tta		Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	Gemtuzumab ozogamicin(DB00056)						92.0	89.0	90.0					19																	51728575		2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51728575A>T	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.139A>T	19.37:g.51728575A>T	ENSP00000262262:p.Ile47Leu					CD33_uc010eos.1_Missense_Mutation_p.I47L|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	p.I47L	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	1	179	+		all_neural(266;0.0199)	47			Ig-like V-type.		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.139A>T	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.280197	0.00254	.	.	ENSG00000105383	ENST00000262262;ENST00000391796	T;T	0.42513	0.97;2.02	2.05	-4.1	0.03940	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12987	0.0315	N	0.03608	-0.345	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.05386	-1.0888	9	0.11794	T	0.64	.	0.4153	0.00447	0.2133:0.283:0.2066:0.297	.	47;47	F8WAL2;P20138	.;CD33_HUMAN	L	47	ENSP00000262262:I47L;ENSP00000375673:I47L	ENSP00000262262:I47L	I	+	1	0	CD33	56420387	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.187000	0.01250	-5.132000	0.00021	-2.330000	0.00249	ATA		0.532	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772	
ROCK2	9475	broad.mit.edu	37	2	11332301	11332301	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:11332301C>T	ENST00000315872.6	-	32	4584	c.4136G>A	c.(4135-4137)aGt>aAt	p.S1379N	ROCK2_ENST00000401753.1_Missense_Mutation_p.S1136N	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1379					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AAGCTGTCGACTTGGCCGTCT	0.368																																						uc002rbd.1																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(4135-4137)aGt>aAt		Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.							116.0	110.0	112.0					2																	11332301		1818	4077	5895	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11332301C>T	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.4136G>A	2.37:g.11332301C>T	ENSP00000317985:p.Ser1379Asn						p.S1379N	NM_004850	NP_004841	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	31	4585	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1379					Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.4136G>A	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675956	0.88445	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.64618	-0.11;0.95	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	N	0.08118	0	0.58432	D	0.999996	P	0.45531	0.86	P	0.45343	0.477	T	0.56938	-0.7896	10	0.44086	T	0.13	.	19.6691	0.95903	0.0:1.0:0.0:0.0	.	1379	O75116	ROCK2_HUMAN	N	1379;1136;737	ENSP00000317985:S1379N;ENSP00000385509:S1136N	ENSP00000317985:S1379N	S	-	2	0	ROCK2	11249752	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.939000	0.63526	2.721000	0.93114	0.591000	0.81541	AGT		0.368	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3		
ITSN2	50618	broad.mit.edu	37	2	24526701	24526701	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:24526701G>A	ENST00000355123.4	-	9	1267	c.824C>T	c.(823-825)tCa>tTa	p.S275L	ITSN2_ENST00000361999.3_Missense_Mutation_p.S275L|ITSN2_ENST00000406921.3_Missense_Mutation_p.S275L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	275	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAAGATTTGACTGAAGAAG	0.318																																						uc002rfe.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(823-825)tCa>tTa		Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.							88.0	91.0	90.0					2																	24526701		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24526701G>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.824C>T	2.37:g.24526701G>A	ENSP00000347244:p.Ser275Leu					ITSN2_uc002rff.2_Missense_Mutation_p.S275L|ITSN2_uc002rfg.3_Missense_Mutation_p.S275L|ITSN2_uc010eyd.2_Missense_Mutation_p.S300L	p.S275L	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			8	1082	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		275			EH 2.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.824C>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919960	0.92249	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	4.81	4.81	0.61882	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.31335	U	0.007822	T	0.68485	0.3006	M	0.82517	2.595	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.81914	0.987;0.987;0.99;0.995	T	0.73883	-0.3842	10	0.87932	D	0	.	18.4397	0.90662	0.0:0.0:1.0:0.0	.	275;275;275;275	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	L	275;275;275;299;275;300	ENSP00000354561:S275L;ENSP00000347244:S275L;ENSP00000370250:S275L;ENSP00000384499:S275L;ENSP00000391224:S300L	ENSP00000347244:S275L	S	-	2	0	ITSN2	24380205	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.046000	0.76592	2.674000	0.91012	0.491000	0.48974	TCA		0.318	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	
EIF2AK2	5610	broad.mit.edu	37	2	37376027	37376027	+	De_novo_Start_OutOfFrame	SNP	C	C	T	rs549560138		TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:37376027C>T	ENST00000233057.4	-	0	279				EIF2AK2_ENST00000405334.1_5'Flank|EIF2AK2_ENST00000395127.2_De_novo_Start_OutOfFrame	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2						activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CCAAAATGCACGCAGATAATC	0.433																																						uc010ynh.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22								Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.																																						5610				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	g.chr2:37376027C>T	BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.-44G>A	2.37:g.37376027C>T						EIF2AK2_uc010fab.2_5'Flank|EIF2AK2_uc010yng.2_5'Flank|EIF2AK2_uc010fac.3_5'UTR|EIF2AK2_uc010fad.2_5'UTR		NM_002759	NP_002750	P19525	E2AK2_HUMAN			1		-		all_hematologic(82;0.248)						A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Translation_Start_Site	SNP	ENST00000233057.4	37		CCDS1786.1																																																																																				0.433	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759	
ZNF638	27332	broad.mit.edu	37	2	71577393	71577393	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:71577393C>A	ENST00000409544.1	+	2	1939	c.1309C>A	c.(1309-1311)Cat>Aat	p.H437N	ZNF638_ENST00000355812.3_Missense_Mutation_p.H437N|ZNF638_ENST00000264447.4_Missense_Mutation_p.H437N|ZNF638_ENST00000377802.2_Missense_Mutation_p.H437N|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	437					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGAATGTAGTCATTTGAAGGT	0.358																																						uc002shx.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(1309-1311)Cat>Aat		Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.							71.0	75.0	74.0					2																	71577393		2173	4287	6460	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71577393C>A	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1309C>A	2.37:g.71577393C>A	ENSP00000386433:p.His437Asn					ZNF638_uc010fec.2_Missense_Mutation_p.H543N|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.H437N|ZNF638_uc002shz.3_Missense_Mutation_p.H437N|ZNF638_uc002shy.3_Missense_Mutation_p.H437N|ZNF638_uc002sia.3_Missense_Mutation_p.H437N|ZNF638_uc002sib.1_Missense_Mutation_p.H437N	p.H437N	NM_014497	NP_055312	Q14966	ZN638_HUMAN			1	1632	+			437					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.1309C>A	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136292	0.37728	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.72725	-0.09;-0.68;0.48;-0.09;1.48;1.48	5.85	5.85	0.93711	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.402088	0.29745	N	0.011309	T	0.65575	0.2704	N	0.24115	0.695	0.34064	D	0.657609	D;P;P;P;D	0.57257	0.979;0.94;0.949;0.932;0.979	P;P;P;P;P	0.53401	0.725;0.546;0.6;0.476;0.64	T	0.67325	-0.5699	10	0.17832	T	0.49	-13.8948	13.2837	0.60230	0.0:0.8412:0.1588:0.0	.	543;437;437;437;437	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	N	437;543;437;437;437;437	ENSP00000386669:H437N;ENSP00000438189:H543N;ENSP00000348066:H437N;ENSP00000367033:H437N;ENSP00000264447:H437N;ENSP00000386433:H437N	ENSP00000264447:H437N	H	+	1	0	ZNF638	71430901	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.519000	0.45546	2.782000	0.95742	0.655000	0.94253	CAT		0.358	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
ADRA2B	151	broad.mit.edu	37	2	96781837	96781837	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:96781837C>T	ENST00000409345.3	-	1	147	c.52G>A	c.(52-54)Gcc>Acc	p.A18T		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	18					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AAGGTGATGGCCGCCGCTATG	0.662																																						uc021vlh.1																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(52-54)Gcc>Acc		Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						20.0	26.0	24.0					2																	96781837		2129	4229	6358	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781837C>T	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.52G>A	2.37:g.96781837C>T	ENSP00000387281:p.Ala18Thr						p.A18T	NM_000682	NP_000673	P18089	ADA2B_HUMAN			0	52	-			18					Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.52G>A	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186225	0.38609	.	.	ENSG00000222040	ENST00000409345	T	0.37584	1.19	4.42	4.42	0.53409	.	.	.	.	.	T	0.20941	0.0504	N	0.11000	0.08	0.27484	N	0.952499	B	0.23058	0.079	B	0.21917	0.037	T	0.07654	-1.0761	9	0.72032	D	0.01	.	8.2547	0.31748	0.0:0.8937:0.0:0.1063	.	18	P18089	ADA2B_HUMAN	T	18	ENSP00000387281:A18T	ENSP00000387281:A18T	A	-	1	0	ADRA2B	96145564	0.985000	0.35326	0.999000	0.59377	0.340000	0.28889	2.319000	0.43788	2.302000	0.77476	0.456000	0.33151	GCC		0.662	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1		
WIPF1	7456	broad.mit.edu	37	2	175432647	175432647	+	Silent	SNP	A	A	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:175432647A>C	ENST00000392547.2	-	6	1383	c.1284T>G	c.(1282-1284)ccT>ccG	p.P428P	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000467149.1_5'UTR|WIPF1_ENST00000359761.3_Silent_p.P428P|WIPF1_ENST00000272746.5_Silent_p.P428P|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Silent_p.P428P|WIPF1_ENST00000392546.2_Silent_p.P428P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	428	Pro-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GAGGTGGGGGAGGTGCCCCAG	0.587																																						uc002uiz.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(1282-1284)ccT>ccG		Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.							66.0	71.0	69.0					2																	175432647		2203	4300	6503	SO:0001819	synonymous_variant	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175432647A>C	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.1284T>G	2.37:g.175432647A>C						BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Silent_p.P428P|WIPF1_uc010fqt.1_Silent_p.P428P|WIPF1_uc002ujb.2_Silent_p.P428P	p.P428P	NM_003387	NP_003378	O43516	WIPF1_HUMAN			5	1384	-			428			Pro-rich.		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Silent	SNP	ENST00000392547.2	37	c.1284T>G	CCDS2260.1																																																																																				0.587	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387	
PCED1A	64773	broad.mit.edu	37	20	2819125	2819125	+	Splice_Site	DEL	C	C	-			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr20:2819125delC	ENST00000360652.2	-	6	1097		c.e6-1		VPS16_ENST00000380445.3_5'Flank|VPS16_ENST00000380469.3_5'Flank|PCED1A_ENST00000356872.3_Splice_Site	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A																		GGGGCTGGAGCTAAGTGAGAA	0.572																																						uc002wgz.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(4)	17						c.e6-1		Homo sapiens family with sequence similarity 113, member A (FAM113A), mRNA.							46.0	51.0	49.0					20																	2819125		2203	4300	6503	SO:0001630	splice_region_variant	64773						hydrolase activity|protein binding	g.chr20:2819125delC	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.595-1G>-	20.37:g.2819125delC						FAM113A_uc010zqa.1_Splice_Site_p.L46_splice|FAM113A_uc002whc.1_Splice_Site_p.L148_splice|VPS16_uc002whe.3_5'Flank|VPS16_uc002whf.3_5'Flank	p.L199_splice	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN			6	1092	-			199					Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Splice_Site	DEL	ENST00000360652.2	37	c.595_splice	CCDS13035.1																																																																																				0.572	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760	Intron
ISM1	140862	broad.mit.edu	37	20	13260546	13260546	+	Splice_Site	SNP	G	G	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr20:13260546G>T	ENST00000262487.4	+	3	649		c.e3+1		TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor							extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CCAGAATATGGTGAGTTTACC	0.498																																						uc010gce.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.e3+1		Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.							30.0	33.0	33.0					20																	13260546		1878	4105	5983	SO:0001630	splice_region_variant	140862					extracellular region		g.chr20:13260546G>T	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.643+1G>T	20.37:g.13260546G>T						TASP1_uc010zri.1_Intron	p.D215_splice	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN			3	649	+			215					Q8WVH9	Splice_Site	SNP	ENST00000262487.4	37	c.643_splice	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527314	0.85706	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ISM1	13208546	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.823000	0.92018	2.828000	0.97474	0.655000	0.94253	.		0.498	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2		Intron
CSTF1	1477	broad.mit.edu	37	20	54974411	54974411	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr20:54974411C>T	ENST00000217109.4	+	5	1386	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	345					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GTCAGATACACGGGTATGTGA	0.373																																						uc002xxl.1																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15						c.(1033-1035)aCg>aTg		Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.							89.0	88.0	88.0					20																	54974411		2203	4300	6503	SO:0001583	missense	1477				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr20:54974411C>T		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"""WD repeat domain containing"""	2483	protein-coding gene	gene with protein product		600369	"""cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"""			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.1034C>T	20.37:g.54974411C>T	ENSP00000217109:p.Thr345Met					CSTF1_uc002xxm.1_Missense_Mutation_p.T345M|CSTF1_uc002xxn.1_Missense_Mutation_p.T345M	p.T345M	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		4	1234	+			345					Q5QPD8	Missense_Mutation	SNP	ENST00000217109.4	37	c.1034C>T	CCDS13452.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645972	0.87958	.	.	ENSG00000101138	ENST00000415828;ENST00000217109;ENST00000425890;ENST00000452950	D;D;D	0.81739	-1.53;-1.53;-1.53	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90397	0.6994	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.90198	0.4255	10	0.66056	D	0.02	-13.1241	20.3539	0.98825	0.0:1.0:0.0:0.0	.	345	Q05048	CSTF1_HUMAN	M	345;345;332;345	ENSP00000387968:T345M;ENSP00000217109:T345M;ENSP00000409035:T345M	ENSP00000217109:T345M	T	+	2	0	CSTF1	54407818	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	7.657000	0.83745	2.826000	0.97356	0.655000	0.94253	ACG		0.373	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521	
CXADR	1525	broad.mit.edu	37	21	18933791	18933791	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr21:18933791T>C	ENST00000284878.7	+	6	1578	c.830T>C	c.(829-831)aTc>aCc	p.I277T	CXADR_ENST00000356275.6_Intron|CXADR_ENST00000306618.10_Missense_Mutation_p.I236T|CXADR_ENST00000400165.1_Intron|CXADR_ENST00000400169.1_Missense_Mutation_p.I277T|CXADR_ENST00000400166.1_Intron	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	277					actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		CATCACGATATCAGGTAATTA	0.363																																						uc002yki.3																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11						c.(829-831)aTc>aCc		Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA.							72.0	71.0	71.0					21																	18933791		2203	4300	6503	SO:0001583	missense	1525				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity	g.chr21:18933791T>C	Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.830T>C	21.37:g.18933791T>C	ENSP00000284878:p.Ile277Thr					CXADR_uc002ykh.2_Intron|CXADR_uc010gld.2_Intron|CXADR_uc010gle.2_Intron|CXADR_uc021whp.1_Missense_Mutation_p.I236T|CXADR_uc002ykj.2_Missense_Mutation_p.I277T	p.I277T	NM_001338	NP_001329	P78310	CXAR_HUMAN		Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)	5	1054	+			277					B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Missense_Mutation	SNP	ENST00000284878.7	37	c.830T>C	CCDS33519.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.802075	0.70682	.	.	ENSG00000154639	ENST00000284878;ENST00000400169;ENST00000306618	T;T;D	0.91407	-1.26;-1.32;-2.84	4.49	4.49	0.54785	.	0.045406	0.85682	D	0.000000	D	0.93766	0.8007	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.77004	0.974;0.989	D	0.91947	0.5568	10	0.14656	T	0.56	.	13.2808	0.60212	0.0:0.0:0.0:1.0	.	277;277	B7WPI3;P78310	.;CXAR_HUMAN	T	277;277;236	ENSP00000284878:I277T;ENSP00000383033:I277T;ENSP00000303395:I236T	ENSP00000284878:I277T	I	+	2	0	CXADR	17855662	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.918000	0.75788	1.799000	0.52666	0.482000	0.46254	ATC		0.363	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1		
KIF15	56992	broad.mit.edu	37	3	44882590	44882590	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:44882590C>G	ENST00000326047.4	+	29	3594	c.3445C>G	c.(3445-3447)Caa>Gaa	p.Q1149E	KIF15_ENST00000425755.1_Missense_Mutation_p.Q784E	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1149					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ACCTCACTTTCAAACACATTT	0.333																																						uc003cnx.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(3445-3447)Caa>Gaa		Homo sapiens kinesin family member 15 (KIF15), mRNA.							68.0	71.0	70.0					3																	44882590		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44882590C>G	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3445C>G	3.37:g.44882590C>G	ENSP00000324020:p.Gln1149Glu					KIF15_uc010hiq.3_Missense_Mutation_p.Q1052E|KIF15_uc010hir.3_Missense_Mutation_p.Q197E	p.Q1149E	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	28	3594	+			1149					Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.3445C>G	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388222	0.42308	.	.	ENSG00000163808	ENST00000326047;ENST00000396031;ENST00000425755	T;T	0.65732	-0.17;2.01	6.17	6.17	0.99709	.	0.282211	0.25310	N	0.031591	T	0.41604	0.1166	N	0.14661	0.345	0.28208	N	0.927075	B	0.14805	0.011	B	0.16289	0.015	T	0.15093	-1.0449	10	0.02654	T	1	.	14.3277	0.66530	0.0:0.8116:0.1884:0.0	.	1149	Q9NS87	KIF15_HUMAN	E	1149;1146;784	ENSP00000324020:Q1149E;ENSP00000389982:Q784E	ENSP00000324020:Q1149E	Q	+	1	0	KIF15	44857594	1.000000	0.71417	0.990000	0.47175	0.923000	0.55619	1.698000	0.37794	2.941000	0.99782	0.655000	0.94253	CAA		0.333	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2		
SETD2	29072	broad.mit.edu	37	3	47147485	47147485	+	Splice_Site	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:47147485A>G	ENST00000409792.3	-	6	4882		c.e6+1			NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CAAGCTGCTTACCTCATCATT	0.368			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqv.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.e6+1		Homo sapiens SET domain containing 2 (SETD2), mRNA.							161.0	158.0	159.0					3																	47147485		2203	4300	6503	SO:0001630	splice_region_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47147485A>G	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4839+1T>C	3.37:g.47147485A>G						SETD2_uc003cqs.3_Splice_Site_p.E1613_splice	p.E1602_splice	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	6	4892	-		Acute lymphoblastic leukemia(5;0.0169)	1613			SET.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Splice_Site	SNP	ENST00000409792.3	37	c.4806_splice	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	24.7	4.557244	0.86231	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4917	0.75611	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SETD2	47122489	1.000000	0.71417	0.941000	0.38009	0.942000	0.58702	8.840000	0.92125	2.134000	0.65973	0.528000	0.53228	.		0.368	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	Intron
UQCRC1	7384	broad.mit.edu	37	3	48641675	48641675	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:48641675T>C	ENST00000203407.5	-	5	1033	c.617A>G	c.(616-618)gAg>gGg	p.E206G		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	206					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCTGACATTCTCACTGGGCCC	0.552																																					NSCLC(81;1112 1427 27031 32409 45529)	uc003cub.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(616-618)gAg>gGg		Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	Atovaquone(DB01117)						133.0	119.0	124.0					3																	48641675		2203	4300	6503	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48641675T>C	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.617A>G	3.37:g.48641675T>C	ENSP00000203407:p.Glu206Gly						p.E206G	NM_003365	NP_003356	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	662	-			206					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.617A>G	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.776087	0.49786	.	.	ENSG00000010256	ENST00000203407	T	0.53423	0.62	5.83	4.66	0.58398	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.374636	0.35378	N	0.003255	T	0.47303	0.1438	M	0.78456	2.415	0.37799	D	0.927645	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.51710	-0.8671	10	0.66056	D	0.02	-20.2623	7.7577	0.28933	0.0:0.0745:0.1381:0.7874	.	91;206	B4DUL5;P31930	.;QCR1_HUMAN	G	206	ENSP00000203407:E206G	ENSP00000203407:E206G	E	-	2	0	UQCRC1	48616679	0.014000	0.17966	1.000000	0.80357	0.988000	0.76386	0.864000	0.27926	1.020000	0.39573	0.459000	0.35465	GAG		0.552	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365	
MECOM	2122	broad.mit.edu	37	3	168810761	168810761	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:168810761C>T	ENST00000464456.1	-	12	3758	c.2558G>A	c.(2557-2559)aGg>aAg	p.R853K	MECOM_ENST00000433243.2_Missense_Mutation_p.R863K|MECOM_ENST00000460814.1_Missense_Mutation_p.R853K|MECOM_ENST00000392736.3_Missense_Mutation_p.R862K|MECOM_ENST00000494292.1_Missense_Mutation_p.R1041K|MECOM_ENST00000472280.1_Missense_Mutation_p.R863K|MECOM_ENST00000468789.1_Missense_Mutation_p.R862K|MECOM_ENST00000264674.3_Missense_Mutation_p.R927K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTCCACATTCCTGGGAGATTG	0.403																																						uc011bpj.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(3148-3150)aGg>aAg		Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.							111.0	102.0	105.0					3																	168810761		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168810761C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2558G>A	3.37:g.168810761C>T	ENSP00000419770:p.Arg853Lys					MECOM_uc010hwk.1_Missense_Mutation_p.R876K|MECOM_uc003ffj.3_Missense_Mutation_p.R927K|MECOM_uc003ffi.3_Missense_Mutation_p.R862K|MECOM_uc011bpi.1_Missense_Mutation_p.R854K|MECOM_uc003ffn.3_Missense_Mutation_p.R862K|MECOM_uc003ffk.2_Missense_Mutation_p.R853K|MECOM_uc003ffl.2_Missense_Mutation_p.R1013K|MECOM_uc011bpk.1_Missense_Mutation_p.R862K	p.R1050K	NM_004991	NP_004982	Q13465	MDS1_HUMAN			13	3552	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.3149G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093430	0.36952	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05382	3.49;3.5;3.45;3.59;3.45;3.5;3.45;3.59	5.41	5.41	0.78517	.	0.524949	0.19629	N	0.109701	T	0.04861	0.0131	N	0.14661	0.345	0.33158	D	0.546597	P;B;B;B;B	0.36577	0.558;0.372;0.422;0.372;0.167	B;B;B;B;B	0.35770	0.21;0.114;0.066;0.114;0.034	T	0.36696	-0.9737	10	0.33940	T	0.23	-13.3537	13.1944	0.59730	0.1592:0.8408:0.0:0.0	.	1050;854;1041;927;862	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	K	927;862;853;863;1041;862;853;863	ENSP00000264674:R927K;ENSP00000376493:R862K;ENSP00000419770:R853K;ENSP00000420048:R863K;ENSP00000417899:R1041K;ENSP00000419995:R862K;ENSP00000420466:R853K;ENSP00000394302:R863K	ENSP00000264674:R927K	R	-	2	0	MECOM	170293455	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	1.048000	0.30379	2.527000	0.85204	0.460000	0.39030	AGG		0.403	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991	
SAMD7	344658	broad.mit.edu	37	3	169656173	169656173	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:169656173A>G	ENST00000428432.2	+	9	1609	c.1220A>G	c.(1219-1221)gAt>gGt	p.D407G	RP11-379K17.4_ENST00000487580.1_RNA|SAMD7_ENST00000335556.3_Missense_Mutation_p.D407G	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	407										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAAGCATTTGATCAACCAGCA	0.348																																						uc003fgd.3																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1219-1221)gAt>gGt		Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.							97.0	98.0	98.0					3																	169656173		2203	4300	6503	SO:0001583	missense	344658							g.chr3:169656173A>G	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.1220A>G	3.37:g.169656173A>G	ENSP00000391299:p.Asp407Gly					SAMD7_uc003fge.3_Missense_Mutation_p.D407G|SAMD7_uc011bpo.2_Missense_Mutation_p.D308G	p.D407G	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		8	1487	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		407						Missense_Mutation	SNP	ENST00000428432.2	37	c.1220A>G	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	A	5.636	0.302016	0.10678	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.43294	0.95;0.95	4.46	3.26	0.37387	.	0.405930	0.26528	N	0.023867	T	0.30510	0.0767	L	0.27053	0.805	0.18873	N	0.999986	P	0.42908	0.793	B	0.41374	0.355	T	0.11299	-1.0593	10	0.66056	D	0.02	-6.3231	9.6707	0.40011	0.8246:0.1754:0.0:0.0	.	407	Q7Z3H4	SAMD7_HUMAN	G	407	ENSP00000391299:D407G;ENSP00000334668:D407G	ENSP00000334668:D407G	D	+	2	0	SAMD7	171138867	0.942000	0.31987	0.065000	0.19835	0.004000	0.04260	1.510000	0.35790	0.648000	0.30732	0.402000	0.26972	GAT		0.348	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610	
PDGFRA	5156	broad.mit.edu	37	4	55133888	55133899	+	In_Frame_Del	DEL	GGAAAAGATTCA	GGAAAAGATTCA	-			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:55133888_55133899delGGAAAAGATTCA	ENST00000257290.5	+	7	1432_1443	c.1101_1112delGGAAAAGATTCA	c.(1099-1113)gtggaaaagattcag>gtg	p.EKIQ368del	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	368	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CCACTGATGTGGAAAAGATTCAGGAAATAAGG	0.448			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.4				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1099-1113)gtggaaaagattcag>gtg		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)																																			SO:0001651	inframe_deletion	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55133888_55133899delGGAAAAGATTCA	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1101_1112delGGAAAAGATTCA	4.37:g.55133888_55133899delGGAAAAGATTCA	ENSP00000257290:p.Glu368_Gln371del	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_In_Frame_Del_p.EKIQ262del|PDGFRA_uc003ham.2_Non-coding_Transcript	p.EKIQ368del	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		6	1432_1443	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		368			Ig-like C2-type 4.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	In_Frame_Del	DEL	ENST00000257290.5	37	c.1101_1112delGGAAAAGATTCA	CCDS3495.1																																																																																				0.448	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
ENAM	10117	broad.mit.edu	37	4	71509712	71509712	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:71509712C>A	ENST00000396073.3	+	9	2850	c.2569C>A	c.(2569-2571)Cca>Aca	p.P857T	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	857					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACCAAGTTACCCATCAGGTCA	0.448																																						uc011caw.1																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(2569-2571)Cca>Aca		Homo sapiens enamelin (ENAM), mRNA.							105.0	102.0	103.0					4																	71509712		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71509712C>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2569C>A	4.37:g.71509712C>A	ENSP00000379383:p.Pro857Thr						p.P857T	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		8	2850	+			857					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.2569C>A	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703795	0.48412	.	.	ENSG00000132464	ENST00000396073	T	0.42131	0.98	6.08	4.37	0.52481	.	0.221905	0.32578	N	0.005914	T	0.61788	0.2375	M	0.80982	2.52	0.24110	N	0.995844	D	0.67145	0.996	D	0.68039	0.955	T	0.56938	-0.7896	10	0.87932	D	0	-3.1955	9.3144	0.37926	0.0:0.8366:0.0:0.1634	.	857	Q9NRM1	ENAM_HUMAN	T	857	ENSP00000379383:P857T	ENSP00000379383:P857T	P	+	1	0	ENAM	71728576	0.091000	0.21658	0.917000	0.36280	0.962000	0.63368	2.593000	0.46180	0.914000	0.36822	0.655000	0.94253	CCA		0.448	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889	
PTPN13	5783	broad.mit.edu	37	4	87728883	87728883	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:87728883G>A	ENST00000411767.2	+	45	6979	c.6916G>A	c.(6916-6918)Gcc>Acc	p.A2306T	PTPN13_ENST00000427191.2_Missense_Mutation_p.A2287T|PTPN13_ENST00000511467.1_Missense_Mutation_p.A2311T|PTPN13_ENST00000436978.1_Missense_Mutation_p.A2311T|PTPN13_ENST00000316707.6_Missense_Mutation_p.A2115T			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2306	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CACAGTGATAGCCATGATGAC	0.453																																						uc003hpz.3																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6916-6918)Gcc>Acc		Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.							159.0	152.0	154.0					4																	87728883		1930	4121	6051	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87728883G>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6916G>A	4.37:g.87728883G>A	ENSP00000407249:p.Ala2306Thr					PTPN13_uc003hpy.3_Missense_Mutation_p.A2311T|PTPN13_uc003hqa.3_Missense_Mutation_p.A2287T|PTPN13_uc003hqb.3_Missense_Mutation_p.A2115T	p.A2306T	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	44	7396	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	2306			Tyrosine-protein phosphatase.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.6916G>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	36	5.667862	0.96745	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53	5.68	5.68	0.88126	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.49305	D	0.000149	T	0.47563	0.1452	M	0.89095	3.005	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.999;0.999	D;P;D;D	0.87578	0.998;0.847;0.956;0.926	T	0.54029	-0.8354	10	0.72032	D	0.01	.	19.8003	0.96504	0.0:0.0:1.0:0.0	.	2115;2287;2306;2311	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	T	2287;2311;2115;2306;2311;2255	ENSP00000408368:A2287T;ENSP00000394794:A2311T;ENSP00000322675:A2115T;ENSP00000407249:A2306T;ENSP00000426626:A2311T	ENSP00000322675:A2115T	A	+	1	0	PTPN13	87947907	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.672000	0.98629	2.672000	0.90937	0.650000	0.86243	GCC		0.453	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
ADH1A	124	broad.mit.edu	37	4	100205753	100205753	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:100205753G>T	ENST00000209668.2	-	5	483	c.370C>A	c.(370-372)Ctg>Atg	p.L124M	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'Flank	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	124					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	CCATCCTGCAGGGTCCCCTGA	0.517																																						uc003hur.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(370-372)Ctg>Atg		Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	Fomepizole(DB01213)|NADH(DB00157)						73.0	71.0	72.0					4																	100205753		2203	4300	6503	SO:0001583	missense	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100205753G>T	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.370C>A	4.37:g.100205753G>T	ENSP00000209668:p.Leu124Met					LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'UTR	p.L124M	NM_000667	NP_000658	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	4	484	-			124					A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	c.370C>A	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.217239	0.00286	.	.	ENSG00000187758	ENST00000209668	T	0.03330	3.97	2.59	-5.18	0.02840	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.334747	0.31601	N	0.007363	T	0.00998	0.0033	N	0.01640	-0.785	0.09310	N	1	B	0.12013	0.005	B	0.25987	0.065	T	0.27706	-1.0066	10	0.02654	T	1	-1.5932	6.1796	0.20463	0.1974:0.0:0.2772:0.5254	.	124	P07327	ADH1A_HUMAN	M	124	ENSP00000209668:L124M	ENSP00000209668:L124M	L	-	1	2	ADH1A	100424776	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-1.920000	0.01571	-1.655000	0.01497	-0.535000	0.04281	CTG		0.517	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667	
PRMT9	90826	broad.mit.edu	37	4	148589774	148589774	+	Missense_Mutation	SNP	C	C	A	rs147339843		TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:148589774C>A	ENST00000322396.6	-	6	1111	c.869G>T	c.(868-870)tGt>tTt	p.C290F	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.C177F	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		290	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						ATACTTTTCACAATTAGCACT	0.318																																						uc003ilc.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(868-870)tGt>tTt		Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.							128.0	120.0	123.0					4																	148589774		2203	4299	6502	SO:0001583	missense	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148589774C>A																												ENST00000322396.6:c.869G>T	4.37:g.148589774C>A	ENSP00000314396:p.Cys290Phe					PRMT10_uc003ild.3_Missense_Mutation_p.C177F	p.C290F	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN			5	1011	-			290					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	c.869G>T	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531347	0.27387	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.24350	1.86;1.86	6.03	5.18	0.71444	.	0.363128	0.34156	N	0.004208	T	0.17746	0.0426	L	0.44542	1.39	0.31172	N	0.703086	B	0.19331	0.035	B	0.20955	0.032	T	0.22138	-1.0225	10	0.10377	T	0.69	-2.5753	5.8064	0.18442	0.1213:0.6334:0.1699:0.0754	.	290	Q6P2P2	ANM10_HUMAN	F	290;177	ENSP00000314396:C290F;ENSP00000439508:C177F	ENSP00000314396:C290F	C	-	2	0	PRMT10	148809224	0.915000	0.31059	0.769000	0.31535	0.917000	0.54804	0.054000	0.14205	1.554000	0.49487	0.551000	0.68910	TGT		0.318	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1		
FGA	2243	broad.mit.edu	37	4	155508053	155508053	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:155508053C>G	ENST00000302053.3	-	5	606	c.528G>C	c.(526-528)aaG>aaC	p.K176N	FGA_ENST00000403106.3_Missense_Mutation_p.K176N	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	176					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AAGATCGGATCTTAATATCAA	0.393																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(526-528)aaG>aaC		Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						74.0	75.0	75.0					4																	155508053		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155508053C>G		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.528G>C	4.37:g.155508053C>G	ENSP00000306361:p.Lys176Asn					FGA_uc003ioe.1_Missense_Mutation_p.K176N|FGA_uc003iof.1_Intron	p.K176N	NM_000508	NP_000499	P02671	FIBA_HUMAN			4	586	-	all_hematologic(180;0.215)	Renal(120;0.0458)	176					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.528G>C	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529338	0.64860	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	D;D	0.86627	-2.15;-2.15	6.17	5.33	0.75918	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.087355	0.85682	D	0.000000	D	0.92678	0.7673	M	0.77103	2.36	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93206	0.6596	10	0.87932	D	0	.	11.4478	0.50134	0.0:0.8637:0.0:0.1363	.	176;176	P02671-2;P02671	.;FIBA_HUMAN	N	176	ENSP00000306361:K176N;ENSP00000385981:K176N	ENSP00000306361:K176N	K	-	3	2	FGA	155727503	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	2.211000	0.42825	1.627000	0.50400	0.655000	0.94253	AAG		0.393	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	
NIPBL	25836	broad.mit.edu	37	5	37064969	37064969	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr5:37064969C>T	ENST00000282516.8	+	47	8889	c.8390C>T	c.(8389-8391)gCc>gTc	p.A2797V		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2797					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCCCTGTATGCCGCCAAGGAT	0.358																																						uc003jkl.4																			0		p.A2797A(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(8389-8391)gCc>gTc		Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.							53.0	55.0	54.0					5																	37064969		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37064969C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.8390C>T	5.37:g.37064969C>T	ENSP00000282516:p.Ala2797Val					NIPBL_uc003jkk.4_3'UTR|NIPBL_uc003jkn.3_3'UTR	p.A2797V	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		46	8889	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2797					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.8390C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645953	0.67358	.	.	ENSG00000164190	ENST00000282516	D	0.94417	-3.42	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.95439	0.8519	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	D	0.95992	0.8986	10	0.87932	D	0	-5.0789	20.139	0.98050	0.0:1.0:0.0:0.0	.	2797	Q6KC79	NIPBL_HUMAN	V	2797	ENSP00000282516:A2797V	ENSP00000282516:A2797V	A	+	2	0	NIPBL	37100726	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.463000	0.80869	2.764000	0.94973	0.655000	0.94253	GCC		0.358	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
PCDHA7	56141	broad.mit.edu	37	5	140215867	140215867	+	Silent	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr5:140215867G>A	ENST00000525929.1	+	1	1899	c.1899G>A	c.(1897-1899)acG>acA	p.T633T	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.T633T|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATCAGCACGACACGAGCCC	0.647																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1897-1899)acG>acA		Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.							98.0	100.0	99.0					5																	140215867		2203	4299	6502	SO:0001819	synonymous_variant	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140215867G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1899G>A	5.37:g.140215867G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.T633T	p.T633T	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1899	+			644			Cadherin 6.		O75282	Silent	SNP	ENST00000525929.1	37	c.1899G>A	CCDS54918.1																																																																																				0.647	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910	
TRIM15	89870	broad.mit.edu	37	6	30131441	30131441	+	5'UTR	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr6:30131441C>T	ENST00000376694.4	+	0	449				TRIM10_ENST00000449742.2_5'Flank|TRIM15_ENST00000376688.1_5'Flank|TRIM10_ENST00000376704.3_5'Flank	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15						innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CCGGAGTGGACGGGCTGGGGA	0.622																																						uc010jrx.3																			0				large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14								Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.							41.0	39.0	39.0					6																	30131441		1508	2709	4217	SO:0001623	5_prime_UTR_variant	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30131441C>T	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.-21C>T	6.37:g.30131441C>T						TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank		NM_033229	NP_150232	Q9C019	TRI15_HUMAN			0		+								A2BEC9|O95604|Q8IUX9|Q9C018	Translation_Start_Site	SNP	ENST00000376694.4	37		CCDS4677.1																																																																																				0.622	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229	
HSPA1L	3305	broad.mit.edu	37	6	31778907	31778907	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr6:31778907C>A	ENST00000375654.4	-	2	1032	c.843G>T	c.(841-843)caG>caT	p.Q281H	HSPA1L_ENST00000417199.3_Missense_Mutation_p.Q281H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	281					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTAGGTTGGCCTGGGTGCTGG	0.522																																						uc003nxh.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(841-843)caG>caT		Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.							67.0	74.0	72.0					6																	31778907		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31778907C>A	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.843G>T	6.37:g.31778907C>A	ENSP00000364805:p.Gln281His					HSPA1L_uc010jte.3_Missense_Mutation_p.Q281H|HSPA1L_uc021yuz.1_Missense_Mutation_p.Q281H	p.Q281H	NM_005527	NP_005518	P34931	HS71L_HUMAN			1	1026	-			281					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.843G>T	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081147	0.55753	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653;ENST00000424494	T;T	0.10099	2.91;2.91	5.4	3.48	0.39840	.	0.000000	0.33040	N	0.005355	T	0.40067	0.1102	H	0.99238	4.48	0.58432	D	0.999995	D	0.76494	0.999	D	0.87578	0.998	T	0.58696	-0.7591	10	0.87932	D	0	-5.8395	9.3831	0.38327	0.0:0.815:0.0:0.185	.	281	P34931	HS71L_HUMAN	H	281;281;226;171	ENSP00000364805:Q281H;ENSP00000387691:Q281H	ENSP00000364804:Q226H	Q	-	3	2	HSPA1L	31886886	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.642000	0.37207	1.514000	0.48869	0.585000	0.79938	CAG		0.522	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2		
PKHD1	5314	broad.mit.edu	37	6	51484145	51484145	+	Missense_Mutation	SNP	G	G	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr6:51484145G>C	ENST00000371117.3	-	67	12234	c.11959C>G	c.(11959-11961)Cct>Gct	p.P3987A	RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000587000.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3987					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGCTGAGCAGGAGCACCTGGA	0.572																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(11959-11961)Cct>Gct		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							87.0	80.0	83.0					6																	51484145		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51484145G>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11959C>G	6.37:g.51484145G>C	ENSP00000360158:p.Pro3987Ala						p.P3987A	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			66	12235	-	Lung NSC(77;0.0605)		3987					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11959C>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	9.701	1.154543	0.21371	.	.	ENSG00000170927	ENST00000371117	D	0.86230	-2.09	5.06	1.16	0.20824	.	0.636452	0.14062	N	0.343971	T	0.68522	0.3010	M	0.62723	1.935	0.09310	N	1	B	0.29378	0.243	B	0.27380	0.079	T	0.57694	-0.7767	10	0.34782	T	0.22	.	4.6484	0.12584	0.2722:0.1595:0.5683:0.0	.	3987	P08F94	PKHD1_HUMAN	A	3987	ENSP00000360158:P3987A	ENSP00000360158:P3987A	P	-	1	0	PKHD1	51592104	0.105000	0.21958	0.016000	0.15963	0.363000	0.29612	0.533000	0.23082	-0.006000	0.14370	-0.136000	0.14681	CCT		0.572	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
MTHFD1L	25902	broad.mit.edu	37	6	151281413	151281413	+	Silent	SNP	G	G	A	rs146093887		TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr6:151281413G>A	ENST00000367321.3	+	18	2080	c.1806G>A	c.(1804-1806)gcG>gcA	p.A602A		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	602	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGGTTCAGGCGCAGTTTGACA	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		20452	0.0		0.001	False		,,,				2504	0.0					uc021zgs.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(1807-1809)gcG>gcA		Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.		G	,,	0,4406		0,0,2203	79.0	71.0	73.0		1809,1611,1806	-11.6	0.2	6	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	MTHFD1L	NM_001242767.1,NM_001242768.1,NM_015440.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	603/980,537/914,602/979	151281413	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151281413G>A	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1806G>A	6.37:g.151281413G>A						MTHFD1L_uc011een.2_Non-coding_Transcript|MTHFD1L_uc003qob.3_Silent_p.A602A|MTHFD1L_uc021zgt.1_Silent_p.A537A|MTHFD1L_uc003qoc.3_Silent_p.A550A	p.A603A	NM_001242767	NP_001229696	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	17	1953	+		Ovarian(120;0.128)	602			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Silent	SNP	ENST00000367321.3	37	c.1809G>A	CCDS5228.1																																																																																				0.612	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440	
PCLO	27445	broad.mit.edu	37	7	82785272	82785272	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr7:82785272G>T	ENST00000333891.9	-	2	1022	c.685C>A	c.(685-687)Ccg>Acg	p.P229T	PCLO_ENST00000423517.2_Missense_Mutation_p.P229T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCTGAAGCGGATCCCTACCA	0.463																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(685-687)Ccg>Acg		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							122.0	114.0	117.0					7																	82785272		1927	4131	6058	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82785272G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.685C>A	7.37:g.82785272G>T	ENSP00000334319:p.Pro229Thr					PCLO_uc003uhv.2_Missense_Mutation_p.P229T	p.P229T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			1	974	-			229			Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.685C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	4.103	0.017146	0.07959	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.13196	2.62;2.61	5.48	1.26	0.21427	.	.	.	.	.	T	0.06188	0.0160	N	0.11201	0.11	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.36311	-0.9753	9	0.87932	D	0	.	0.8779	0.01228	0.1782:0.2281:0.3289:0.2649	.	229;229	Q9Y6V0-5;Q9Y6V0-6	.;.	T	229	ENSP00000334319:P229T;ENSP00000388393:P229T	ENSP00000334319:P229T	P	-	1	0	PCLO	82623208	0.000000	0.05858	0.002000	0.10522	0.244000	0.25665	-0.045000	0.12003	0.666000	0.31087	0.655000	0.94253	CCG		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
TFPI2	7980	broad.mit.edu	37	7	93519537	93519537	+	Silent	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr7:93519537G>A	ENST00000222543.5	-	2	495	c.183C>T	c.(181-183)tgC>tgT	p.C61C	GNGT1_ENST00000455502.1_Intron|AC002076.10_ENST00000435257.1_RNA|TFPI2_ENST00000545378.1_Silent_p.C61C	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	61	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GGAACTGGCGGCAGCTCTGCG	0.577																																						uc003umy.1																			0		p.C61Y(1)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(181-183)tgC>tgT		Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.							36.0	39.0	38.0					7																	93519537		2203	4300	6503	SO:0001819	synonymous_variant	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93519537G>A	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.183C>T	7.37:g.93519537G>A						GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.C61C|TFPI2_uc003una.1_Silent_p.C50C	p.C61C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		1	258	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		61			BPTI/Kunitz inhibitor 1.		Q66ME8|Q8NAK6|Q9UC86	Silent	SNP	ENST00000222543.5	37	c.183C>T	CCDS5632.1																																																																																				0.577	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528	
MOGAT3	346606	broad.mit.edu	37	7	100841600	100841600	+	Silent	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr7:100841600C>T	ENST00000223114.4	-	5	706	c.540G>A	c.(538-540)caG>caA	p.Q180Q	MOGAT3_ENST00000440203.2_Silent_p.Q180Q|MOGAT3_ENST00000379423.3_Silent_p.Q180Q	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	180					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CGAGCTGGGGCTGGGACAGGA	0.657																																						uc003uyc.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(538-540)caG>caA		Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.							40.0	43.0	42.0					7																	100841600		2203	4300	6503	SO:0001819	synonymous_variant	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100841600C>T	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.540G>A	7.37:g.100841600C>T						MOGAT3_uc010lhr.3_Silent_p.Q180Q	p.Q180Q	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN			4	707	-	Lung NSC(181;0.168)|all_lung(186;0.215)		180					Q496A6|Q496A7|Q496A8|Q9UDW7	Silent	SNP	ENST00000223114.4	37	c.540G>A	CCDS5714.1																																																																																				0.657	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176	
EIF3IP1	442720	broad.mit.edu	37	7	109600160	109600160	+	IGR	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr7:109600160C>T								AC073071.1 (362937 upstream) : AC003088.1 (472135 downstream)																							TCCTTGGCCACGGTGAAGAGG	0.512																																						uc003vfp.1																			0													Homo sapiens eukaryotic translation initiation factor 3, subunit I pseudogene 1 (EIF3IP1), non-coding RNA.																																				SO:0001628	intergenic_variant	442720							g.chr7:109600160C>T																													7.37:g.109600160C>T														0		-									Translation_Start_Site	SNP		37																																																																																					0	0.512								
KCNU1	157855	broad.mit.edu	37	8	36661576	36661576	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr8:36661576C>G	ENST00000399881.3	+	3	384	c.347C>G	c.(346-348)tCt>tGt	p.S116C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	116					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGCATTGGGTCTCTTATAATC	0.358																																						uc010lvw.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(346-348)tCt>tGt		Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.							169.0	151.0	157.0					8																	36661576		1862	4089	5951	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36661576C>G	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.347C>G	8.37:g.36661576C>G	ENSP00000382770:p.Ser116Cys					KCNU1_uc003xjw.2_Non-coding_Transcript	p.S116C	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	2	434	+			116						Missense_Mutation	SNP	ENST00000399881.3	37	c.347C>G	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797379	0.50208	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	T;T	0.50548	0.74;0.74	5.22	5.22	0.72569	.	0.210068	0.29438	U	0.012141	T	0.67202	0.2868	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.69873	-0.5027	10	0.87932	D	0	-4.2238	16.0878	0.81070	0.0:1.0:0.0:0.0	.	116	A8MYU2	KCNU1_HUMAN	C	116	ENSP00000429951:S116C;ENSP00000382770:S116C	ENSP00000382770:S116C	S	+	2	0	KCNU1	36780734	1.000000	0.71417	0.998000	0.56505	0.034000	0.12701	3.985000	0.56930	2.607000	0.88179	0.655000	0.94253	TCT		0.358	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
SNX16	64089	broad.mit.edu	37	8	82714627	82714627	+	Missense_Mutation	SNP	T	T	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr8:82714627T>A	ENST00000345957.4	-	7	1204	c.926A>T	c.(925-927)gAt>gTt	p.D309V	RP13-923O23.6_ENST00000524337.1_RNA|SNX16_ENST00000396330.2_Missense_Mutation_p.D309V|SNX16_ENST00000353788.4_Missense_Mutation_p.D280V	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16	309				LDEE -> WMR (in Ref. 1; AAG25676). {ECO:0000305}.	early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						AGATTCTTCATCCAGGACATC	0.343																																						uc003ycn.3																			0				large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						c.(925-927)gAt>gTt		Homo sapiens sorting nexin 16 (SNX16), transcript variant 2, mRNA.							78.0	77.0	77.0					8																	82714627		2203	4300	6503	SO:0001583	missense	64089				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding	g.chr8:82714627T>A	AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"""Sorting nexins"""	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.926A>T	8.37:g.82714627T>A	ENSP00000322652:p.Asp309Val					SNX16_uc003yco.3_Missense_Mutation_p.D280V|SNX16_uc011lft.2_Missense_Mutation_p.D309V	p.D309V	NM_152836	NP_690049	P57768	SNX16_HUMAN			6	1187	-			309	LDEE -> WMR (in Ref. 1; AAG25676).				A8K4D8|Q658L0|Q8N4U3	Missense_Mutation	SNP	ENST00000345957.4	37	c.926A>T	CCDS6234.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.524127	0.44866	.	.	ENSG00000104497	ENST00000353788;ENST00000396330;ENST00000345957	T;T;T	0.51817	0.78;0.69;0.69	5.76	4.58	0.56647	.	0.199790	0.51477	D	0.000086	T	0.40498	0.1119	M	0.62723	1.935	0.53005	D	0.999961	P;P	0.36577	0.558;0.52	B;B	0.33042	0.107;0.157	T	0.31943	-0.9925	10	0.45353	T	0.12	-12.2211	6.9129	0.24344	0.0:0.0809:0.1521:0.767	.	280;309	Q658L0;P57768	.;SNX16_HUMAN	V	280;309;309	ENSP00000322631:D280V;ENSP00000379621:D309V;ENSP00000322652:D309V	ENSP00000322652:D309V	D	-	2	0	SNX16	82877182	0.932000	0.31603	0.969000	0.41365	0.925000	0.55904	0.177000	0.16801	1.084000	0.41184	0.528000	0.53228	GAT		0.343	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379929.1	NM_022133	
TAF1L	138474	broad.mit.edu	37	9	32635178	32635178	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr9:32635178A>G	ENST00000242310.4	-	1	489	c.400T>C	c.(400-402)Tac>Cac	p.Y134H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	134					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCGAGTGGTAAAGGGGCTGC	0.478																																						uc003zrg.1																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(400-402)Tac>Cac		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.							282.0	247.0	259.0					9																	32635178		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32635178A>G	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.400T>C	9.37:g.32635178A>G	ENSP00000418379:p.Tyr134His					AX747113_uc003zrh.1_Intron	p.Y134H	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	0	490	-			134					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.400T>C	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	A	3.391	-0.124339	0.06795	.	.	ENSG00000122728	ENST00000242310	T	0.07021	3.23	1.16	-2.32	0.06745	.	0.237430	0.43747	D	0.000531	T	0.03390	0.0098	N	0.08118	0	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.28427	-1.0044	10	0.44086	T	0.13	.	6.365	0.21449	0.8038:0.0:0.1962:0.0	.	134	Q8IZX4	TAF1L_HUMAN	H	134	ENSP00000418379:Y134H	ENSP00000418379:Y134H	Y	-	1	0	TAF1L	32625178	0.012000	0.17670	0.782000	0.31804	0.052000	0.14988	-0.706000	0.05047	-1.450000	0.01936	-1.645000	0.00762	TAC		0.478	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
PIGO	84720	broad.mit.edu	37	9	35090223	35090223	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr9:35090223C>T	ENST00000378617.3	-	9	3303	c.2909G>A	c.(2908-2910)cGg>cAg	p.R970Q	PIGO_ENST00000341666.3_Missense_Mutation_p.R970Q|PIGO_ENST00000361778.2_Missense_Mutation_p.R553Q|PIGO_ENST00000298004.5_Missense_Mutation_p.R553Q	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	970					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGTCTCTTCCGCAGCCCTTG	0.607																																						uc003zwd.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2908-2910)cGg>cAg		Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.							54.0	52.0	52.0					9																	35090223		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35090223C>T	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2909G>A	9.37:g.35090223C>T	ENSP00000367880:p.Arg970Gln					PIGO_uc003zwe.3_Missense_Mutation_p.R553Q|PIGO_uc003zwf.3_Missense_Mutation_p.R553Q|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_3'UTR	p.R970Q	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		8	3305	-			970					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.2909G>A	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	c	6.837	0.523707	0.13066	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.25	-10.5	0.00291	.	1.969230	0.02517	N	0.092149	T	0.63920	0.2552	N	0.03608	-0.345	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.06405	0.001;0.002	T	0.59043	-0.7528	10	0.16420	T	0.52	-0.0026	18.5741	0.91149	0.0:0.1054:0.0751:0.8195	.	553;970	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	Q	553;970;970;553	ENSP00000298004:R553Q;ENSP00000367880:R970Q;ENSP00000339382:R970Q;ENSP00000354678:R553Q	ENSP00000298004:R553Q	R	-	2	0	PIGO	35080223	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-1.983000	0.01488	-2.814000	0.00346	-1.563000	0.00883	CGG		0.607	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634	
NR4A3	8013	broad.mit.edu	37	9	102590645	102590645	+	Silent	SNP	T	T	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr9:102590645T>C	ENST00000395097.2	+	3	1050	c.321T>C	c.(319-321)caT>caC	p.H107H	NR4A3_ENST00000338488.4_Silent_p.H107H|NR4A3_ENST00000330847.1_Silent_p.H118H	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	107	Poly-His.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				accaccaccatcaccaGCAGC	0.627			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	uc022bky.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(352-354)caT>caC		Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.							31.0	34.0	33.0					9																	102590645		2203	4300	6503	SO:0001819	synonymous_variant	8013				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590645T>C	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.321T>C	9.37:g.102590645T>C						NR4A3_uc004bae.3_Silent_p.H107H|NR4A3_uc004baf.1_Silent_p.H107H	p.H118H	NM_173200	NP_008912	Q92570	NR4A3_HUMAN			3	1122	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	107					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Silent	SNP	ENST00000395097.2	37	c.354T>C	CCDS6743.1																																																																																				0.627	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1		
