#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FOXJ2	55810	broad.mit.edu	37	12	8197495	8197495	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr12:8197495G>C	ENST00000162391.3	+	6	1903	c.758G>C	c.(757-759)tGg>tCg	p.W253S	FOXJ2_ENST00000428177.2_Missense_Mutation_p.W253S	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	253					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GATCTAAGCTGGTCCTTCCGC	0.502																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(757-759)tGg>tCg		forkhead box J2							188.0	180.0	183.0					12																	8197495		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8197495G>C	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.758G>C	12.37:g.8197495G>C	ENSP00000162391:p.Trp253Ser					FOXJ2_ENST00000428177.2_Missense_Mutation_p.W253S	p.W253S	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	6	1903	+			253					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.758G>C	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555853	0.27827	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.94537	-3.26;-3.45	5.67	5.67	0.87782	.	0.115136	0.40222	N	0.001145	D	0.94039	0.8090	L	0.51422	1.61	0.58432	D	0.999996	P;D	0.56035	0.61;0.974	B;P	0.50659	0.19;0.647	D	0.92054	0.5651	10	0.20519	T	0.43	.	17.2631	0.87078	0.0:0.0:1.0:0.0	.	253;253	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	S	253	ENSP00000162391:W253S;ENSP00000403411:W253S	ENSP00000162391:W253S	W	+	2	0	FOXJ2	8088762	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.578000	0.67450	2.681000	0.91329	0.491000	0.48974	TGG		0.502	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		40	156	0	0	0	0.111260	0	40	156				
NADK	65220	broad.mit.edu	37	1	1688592	1688592	+	Intron	SNP	A	A	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:1688592A>C	ENST00000341426.5	-	4	615				NADK_ENST00000344463.4_Missense_Mutation_p.W245G|NADK_ENST00000341991.3_Intron|NADK_ENST00000492768.1_Intron|NADK_ENST00000378625.1_Missense_Mutation_p.W245G|NADK_ENST00000342348.5_Intron	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase						ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TGTGCACCCCAGGCCCCCTTC	0.627																																						ENST00000344463.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17						c.(733-735)Tgg>Ggg		NAD kinase																																				SO:0001627	intron_variant	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1688592A>C	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.393+27T>G	1.37:g.1688592A>C						NADK_ENST00000492768.1_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000378625.1_Missense_Mutation_p.W245G|NADK_ENST00000341991.3_Intron|NADK_ENST00000342348.5_Intron	p.W245G			O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	6	954	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	131					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	37	c.733T>G	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	A	7.565	0.665514	0.14710	.	.	ENSG00000008130	ENST00000378625;ENST00000344463	T;T	0.44482	0.92;0.92	3.29	-0.627	0.11541	.	15.230400	0.00166	U	0.000008	T	0.28167	0.0695	L	0.27053	0.805	0.09310	N	1	B	0.17465	0.022	B	0.17098	0.017	T	0.06144	-1.0843	10	0.27082	T	0.32	.	2.3303	0.04234	0.5245:0.0:0.2597:0.2159	.	245	Q5QPS4	.	G	245	ENSP00000367890:W245G;ENSP00000340925:W245G	ENSP00000340925:W245G	W	-	1	0	NADK	1678452	.	.	0.000000	0.03702	0.033000	0.12548	.	.	-0.229000	0.09854	-0.496000	0.04628	TGG		0.627	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		4	5	0	0	0	0.014758	0	4	5				
XKR4	114786	broad.mit.edu	37	8	56436598	56436598	+	Missense_Mutation	SNP	C	C	T	rs371310690		TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr8:56436598C>T	ENST00000327381.6	+	3	1865	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	589						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCGCCCACCACGGATTGAAGA	0.512																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1765-1767)Cgg>Tgg		XK, Kell blood group complex subunit-related family, member 4		C	TRP/ARG	0,4406		0,0,2203	95.0	93.0	94.0		1765	4.0	1.0	8		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	XKR4	NM_052898.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	589/651	56436598	1,13005	2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436598C>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1765C>T	8.37:g.56436598C>T	ENSP00000328326:p.Arg589Trp						p.R589W	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1865	+			589					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1765C>T	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479402	0.44044	0.0	1.16E-4	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.85411	-1.98	5.96	3.97	0.46021	.	0.000000	0.85682	D	0.000000	D	0.90710	0.7085	M	0.67397	2.05	0.52501	D	0.999952	D	0.89917	1.0	D	0.76071	0.987	D	0.91680	0.5357	10	0.72032	D	0.01	-2.6322	14.0137	0.64513	0.4424:0.5576:0.0:0.0	.	589	Q5GH76	XKR4_HUMAN	W	589	ENSP00000328326:R589W	ENSP00000328326:R589W	R	+	1	2	XKR4	56599152	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	1.801000	0.38843	1.489000	0.48450	0.655000	0.94253	CGG		0.512	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		30	75	0	0	0	0.125774	0	30	75				
LSR	51599	broad.mit.edu	37	19	35757262	35757262	+	Splice_Site	SNP	T	T	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr19:35757262T>C	ENST00000361790.3	+	6	1082	c.923T>C	c.(922-924)cTg>cCg	p.L308P	USF2_ENST00000222305.3_5'Flank|USF2_ENST00000595068.1_5'Flank|USF2_ENST00000343550.5_5'Flank|AD000684.2_ENST00000602262.1_RNA|USF2_ENST00000379134.3_5'Flank|LSR_ENST00000360798.3_Splice_Site_p.V240A|LSR_ENST00000427250.1_Splice_Site_p.M152T|LSR_ENST00000602122.1_Splice_Site_p.L289P|LSR_ENST00000354900.3_Splice_Site_p.L289P|USF2_ENST00000594064.1_5'Flank|LSR_ENST00000347609.4_Splice_Site_p.L271P	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	308				L -> R (in Ref. 4; AAB51178). {ECO:0000305}.	embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTCCTCACAGTGTATGCCGCC	0.632																																						ENST00000602122.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.e5-1		lipolysis stimulated lipoprotein receptor							77.0	79.0	78.0					19																	35757262		2203	4300	6503	SO:0001630	splice_region_variant	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35757262T>C	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.923-1T>C	19.37:g.35757262T>C						LSR_ENST00000354900.3_Splice_Site_p.L289_splice|LSR_ENST00000427250.1_Splice_Site_p.M152_splice|LSR_ENST00000361790.3_Splice_Site_p.L308_splice|LSR_ENST00000360798.3_Splice_Site_p.V240_splice|LSR_ENST00000347609.4_Splice_Site_p.L271_splice	p.L289_splice			Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		5	1353	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		308			Cys-rich.		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Splice_Site	SNP	ENST00000361790.3	37	c.865_splice	CCDS12450.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	17.18|17.18|17.18	3.323341|3.323341|3.323341	0.60634|0.60634|0.60634	.|.|.	.|.|.	ENSG00000105699|ENSG00000105699|ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000347609|ENST00000427250|ENST00000360798	T;T;T|T|T	0.62639|0.62498|0.58060	0.13;0.2;0.01|0.02|0.36	3.99|3.99|3.99	3.99|3.99|3.99	0.46301|0.46301|0.46301	.|.|.	0.273628|.|.	0.28841|.|.	N|.|.	0.013964|.|.	T|T|T	0.44265|0.44265|0.44265	0.1285|0.1285|0.1285	L|L|L	0.55481|0.55481|0.55481	1.735|1.735|1.735	0.35191|0.35191|0.35191	D|D|D	0.773404|0.773404|0.773404	D;D;D;D|.|P	0.89917|.|0.34955	1.0;0.998;0.997;0.996|.|0.477	D;D;D;D|.|B	0.91635|.|0.31101	0.999;0.959;0.91;0.935|.|0.124	T|T|T	0.55958|0.55958|0.55958	-0.8058|-0.8058|-0.8058	9|6|8	.|.|.	.|.|.	.|.|.	.|.|.	10.8921|10.8921|10.8921	0.47002|0.47002|0.47002	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	271;289;289;308|.|240	Q86X29-2;Q86X29-3;E9PHD4;Q86X29|.|A6NDW3	.;.;.;LSR_HUMAN|.|.	P|T|A	308;289;271|152|240	ENSP00000354575:L308P;ENSP00000346976:L289P;ENSP00000262627:L271P|ENSP00000394479:M152T|ENSP00000354034:V240A	.|.|.	L|M|V	+|+|+	2|2|2	0|0|0	LSR|LSR|LSR	40449102|40449102|40449102	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.644000|0.644000|0.644000	0.29465|0.29465|0.29465	0.570000|0.570000|0.570000	0.35934|0.35934|0.35934	6.148000|6.148000|6.148000	0.71788|0.71788|0.71788	1.648000|1.648000|1.648000	0.50643|0.50643|0.50643	0.379000|0.379000|0.379000	0.24179|0.24179|0.24179	CTG|ATG|GTG		0.632	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925	Missense_Mutation	29	100	0	0	0	0.054565	0	29	100				
NRP2	8828	broad.mit.edu	37	2	206641226	206641226	+	Silent	SNP	G	G	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr2:206641226G>A	ENST00000357118.4	+	16	2713	c.2682G>A	c.(2680-2682)gaG>gaA	p.E894E	NRP2_ENST00000357785.5_Intron|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000272849.3_Silent_p.E899E	NM_201267.1	NP_957719	Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TTAAGCTAGAGCAAGACCGTG	0.532											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357118.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2680-2682)gaG>gaA		neuropilin 2							92.0	88.0	89.0					2																	206641226		2203	4300	6503	SO:0001819	synonymous_variant	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206641226G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357118.4:c.2682G>A	2.37:g.206641226G>A			OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2161	NRP2_ENST00000412873.2_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000272849.3_Silent_p.E899E|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000357785.5_Intron	p.E894E	NM_201267.1	NP_957719.1	O60462	NRP2_HUMAN			16	2713	+			0					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357118.4	37	c.2682G>A	CCDS46498.1																																																																																				0.532	NRP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336465.1			9	117	0	0	0	0.069234	0	9	117				
ALDH1A3	220	broad.mit.edu	37	15	101425525	101425525	+	Silent	SNP	A	A	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr15:101425525A>C	ENST00000329841.5	+	2	685	c.153A>C	c.(151-153)acA>acC	p.T51T	RP11-66B24.8_ENST00000558568.1_lincRNA|ALDH1A3_ENST00000560555.1_3'UTR|ALDH1A3_ENST00000346623.6_Silent_p.T51T	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	51					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	AGTTTGCTACATGTAACCCTT	0.343																																						ENST00000329841.5																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(151-153)acA>acC		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)						100.0	100.0	100.0					15																	101425525		2203	4300	6503	SO:0001819	synonymous_variant	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101425525A>C	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.153A>C	15.37:g.101425525A>C						ALDH1A3_ENST00000560555.1_3'UTR|ALDH1A3_ENST00000346623.6_Silent_p.T51T	p.T51T	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		2	685	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		51					Q6NT64	Silent	SNP	ENST00000329841.5	37	c.153A>C	CCDS10389.1																																																																																				0.343	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			3	65	0	0	0	0.115264	0	3	65				
TRIM4	89122	broad.mit.edu	37	7	99506411	99506411	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr7:99506411T>C	ENST00000355947.2	-	4	721	c.592A>G	c.(592-594)Aga>Gga	p.R198G	TRIM4_ENST00000354241.5_Missense_Mutation_p.R172G|TRIM4_ENST00000349062.2_Missense_Mutation_p.R172G	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	198					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GTGCTGATTCTCATTCGCTGA	0.428																																						ENST00000355947.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17						c.(592-594)Aga>Gga		tripartite motif containing 4							130.0	119.0	123.0					7																	99506411		2203	4300	6503	SO:0001583	missense	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99506411T>C	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.592A>G	7.37:g.99506411T>C	ENSP00000348216:p.Arg198Gly					TRIM4_ENST00000349062.2_Missense_Mutation_p.R172G|TRIM4_ENST00000354241.5_Missense_Mutation_p.R172G	p.R198G	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN			4	721	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	198					A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	c.592A>G	CCDS5679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.20|14.20	2.464145|2.464145	0.43736|0.43736	.|.	.|.	ENSG00000146833|ENSG00000146833	ENST00000447480|ENST00000355947;ENST00000349062;ENST00000542799;ENST00000354241	.|T;T;T	.|0.04654	.|3.58;3.58;3.58	2.68|2.68	2.68|2.68	0.31781|0.31781	.|.	.|.	.|.	.|.	.|.	T|T	0.15869|0.15869	0.0382|0.0382	M|M	0.71581|0.71581	2.175|2.175	0.09310|0.09310	N|N	1|1	.|P;D;D	.|0.61080	.|0.941;0.989;0.981	.|P;D;D	.|0.72625	.|0.858;0.978;0.95	T|T	0.04976|0.04976	-1.0914|-1.0914	5|9	.|0.40728	.|T	.|0.16	.|.	7.2233|7.2233	0.26002|0.26002	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|172;172;198	.|Q9C037-3;Q9C037-2;Q9C037	.|.;.;TRIM4_HUMAN	G|G	73|198;172;28;172	.|ENSP00000348216:R198G;ENSP00000275736:R172G;ENSP00000346186:R172G	.|ENSP00000275736:R172G	E|R	-|-	2|1	0|2	TRIM4|TRIM4	99344347|99344347	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.831000|0.831000	0.47069|0.47069	0.774000|0.774000	0.26675|0.26675	1.494000|1.494000	0.48533|0.48533	0.528000|0.528000	0.53228|0.53228	GAG|AGA		0.428	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		32	93	0	0	0	0.054565	0	32	93				
RPAP2	79871	broad.mit.edu	37	1	92789789	92789789	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:92789789G>C	ENST00000610020.1	+	8	1421	c.1312G>C	c.(1312-1314)Ggc>Cgc	p.G438R		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	438					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		ACCTTTTAGGGGCTCAGGTAC	0.413																																						ENST00000370343.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(1312-1314)Ggc>Cgc		RNA polymerase II associated protein 2							66.0	69.0	68.0					1																	92789789		2203	4300	6503	SO:0001583	missense	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92789789G>C	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1312G>C	1.37:g.92789789G>C	ENSP00000476948:p.Gly438Arg						p.G438R	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	8	1421	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	438					C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	c.1312G>C	CCDS740.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171916	0.38315	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.72	1.66	0.24008	.	0.319877	0.37393	N	0.002104	T	0.19248	0.0462	L	0.47716	1.5	0.40731	D	0.982740	P	0.39216	0.664	B	0.36030	0.216	T	0.03374	-1.1043	8	0.52906	T	0.07	-0.0261	6.9164	0.24361	0.2523:0.0:0.6361:0.1116	.	438	Q8IXW5	RPAP2_HUMAN	R	438	.	ENSP00000359368:G438R	G	+	1	0	RPAP2	92562377	0.647000	0.27304	0.229000	0.23960	0.980000	0.70556	0.820000	0.27323	0.327000	0.23409	0.655000	0.94253	GGC		0.413	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		23	74	0	0	0	0.062417	0	23	74				
LOC101927079	101927079	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T	rs376977769		TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343																																						ENST00000558896.1																			0																																																			0							g.chr15:22332432C>T																													15.37:g.22332432C>T														0	239	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.343	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			5	91	0	0	0	0.021553	0	5	91				
MED8	112950	broad.mit.edu	37	1	43852653	43852653	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:43852653C>T	ENST00000372457.4	-	4	330	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	MED8_ENST00000372455.4_Missense_Mutation_p.R7Q|SZT2_ENST00000310739.4_5'Flank|RP1-92O14.6_ENST00000436713.1_RNA|SZT2_ENST00000562955.1_5'Flank|MED8_ENST00000290663.6_Missense_Mutation_p.R96Q|SZT2_ENST00000372450.4_5'Flank	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	96					gene expression (GO:0010467)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.R7L(1)|p.R96L(1)		endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AACAGGCACCCGTCCTTCAGT	0.498																																						ENST00000372457.4																			2	Substitution - Missense(2)	p.R7L(1)|p.R96L(1)	lung(2)	endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9						c.(286-288)cGg>cAg		mediator complex subunit 8							173.0	155.0	161.0					1																	43852653		2203	4300	6503	SO:0001583	missense	112950				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr1:43852653C>T	AF521562, BC010543	CCDS486.2, CCDS487.2, CCDS60108.1	1p34.1	2008-02-05	2007-07-30		ENSG00000159479	ENSG00000159479			19971	protein-coding gene	gene with protein product		607956	"""mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae)"""			12149480, 9671713	Standard	NM_052877		Approved	MGC17544, MGC19641, ARC32	uc001cje.2	Q96G25	OTTHUMG00000007421	ENST00000372457.4:c.287G>A	1.37:g.43852653C>T	ENSP00000361535:p.Arg96Gln					MED8_ENST00000372455.4_Missense_Mutation_p.R7Q|MED8_ENST00000290663.6_Missense_Mutation_p.R96Q|RP1-92O14.6_ENST00000436713.1_RNA	p.R96Q	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN			4	330	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	96					A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Missense_Mutation	SNP	ENST00000372457.4	37	c.287G>A	CCDS487.2	.	.	.	.	.	.	.	.	.	.	C	34	5.368594	0.95900	.	.	ENSG00000159479	ENST00000290663;ENST00000372457;ENST00000372455	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.84862	0.5566	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	D	0.86187	0.1610	9	0.87932	D	0	0.7774	20.1184	0.97949	0.0:1.0:0.0:0.0	.	96;96	Q96G25;Q96G25-2	MED8_HUMAN;.	Q	96;96;7	.	ENSP00000290663:R96Q	R	-	2	0	MED8	43625240	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.738000	0.84966	2.769000	0.95229	0.655000	0.94253	CGG		0.498	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318959.1	NM_052877		6	128	0	0	0	0.021553	0	6	128				
CST5	1473	broad.mit.edu	37	20	23860160	23860160	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr20:23860160T>C	ENST00000304710.4	-	1	227	c.154A>G	c.(154-156)Atc>Gtc	p.I52V		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	52					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TACTCGCTGATGGCAAAGTCC	0.582																																						ENST00000304710.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(154-156)Atc>Gtc		cystatin D							212.0	193.0	199.0					20																	23860160		2203	4300	6503	SO:0001583	missense	1473					extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr20:23860160T>C		CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.154A>G	20.37:g.23860160T>C	ENSP00000307132:p.Ile52Val						p.I52V	NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN			1	227	-			52					Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	37	c.154A>G	CCDS13162.1	.	.	.	.	.	.	.	.	.	.	t	0.004	-2.254846	0.00265	.	.	ENSG00000170367	ENST00000304710	T	0.23754	1.89	1.99	-3.98	0.04082	Proteinase inhibitor I25, cystatin (2);	0.642654	0.15330	N	0.268093	T	0.06872	0.0175	N	0.02685	-0.53	0.09310	N	1	B	0.18013	0.025	B	0.28849	0.095	T	0.27673	-1.0067	10	0.02654	T	1	.	4.0541	0.09808	0.0:0.3255:0.4067:0.2678	.	52	P28325	CYTD_HUMAN	V	52	ENSP00000307132:I52V	ENSP00000307132:I52V	I	-	1	0	CST5	23808160	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.707000	0.05041	-1.292000	0.02366	0.368000	0.22195	ATC		0.582	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		8	244	0	0	0	0.047766	0	8	244				
KSR2	283455	broad.mit.edu	37	12	117969491	117969491	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr12:117969491T>G	ENST00000339824.5	-	11	2436	c.1709A>C	c.(1708-1710)aAg>aCg	p.K570T	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.K267T|KSR2_ENST00000425217.1_Missense_Mutation_p.K541T			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	570					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAACTGCTGCTTGTATTTGTA	0.502																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1621-1623)aAg>aCg		kinase suppressor of ras 2							96.0	102.0	100.0					12																	117969491		2001	4168	6169	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117969491T>G	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1709A>C	12.37:g.117969491T>G	ENSP00000339952:p.Lys570Thr					KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.K267T|KSR2_ENST00000339824.5_Missense_Mutation_p.K570T	p.K541T	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			11	1676	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		570			Pro-rich.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1622A>C		.	.	.	.	.	.	.	.	.	.	T	19.32	3.805229	0.70682	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.86030	-1.2;-1.21;-2.06	4.66	3.52	0.40303	.	0.046197	0.85682	D	0.000000	D	0.85044	0.5607	L	0.51422	1.61	0.50813	D	0.999895	D	0.57257	0.979	P	0.53102	0.718	D	0.83885	0.0281	10	0.56958	D	0.05	.	9.1947	0.37220	0.0:0.0885:0.0:0.9115	.	570	Q6VAB6	KSR2_HUMAN	T	541;570;267;242	ENSP00000389715:K541T;ENSP00000339952:K570T;ENSP00000305466:K267T	ENSP00000305466:K267T	K	-	2	0	KSR2	116453874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.829000	0.55760	0.815000	0.34398	0.402000	0.26972	AAG		0.502	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		3	48	0	0	0	0.115264	0	3	48				
ZNF532	55205	broad.mit.edu	37	18	56585911	56585911	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr18:56585911C>T	ENST00000336078.4	+	4	1168	c.392C>T	c.(391-393)cCg>cTg	p.P131L	ZNF532_ENST00000591808.1_Missense_Mutation_p.P131L|ZNF532_ENST00000591083.1_Missense_Mutation_p.P131L|ZNF532_ENST00000591230.1_Missense_Mutation_p.P131L|ZNF532_ENST00000589288.1_Missense_Mutation_p.P131L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAGTTTAGCCCGATCTCCAGT	0.498																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(391-393)cCg>cTg		zinc finger protein 532							115.0	99.0	104.0					18																	56585911		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56585911C>T	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.392C>T	18.37:g.56585911C>T	ENSP00000338217:p.Pro131Leu					ZNF532_ENST00000589288.1_Missense_Mutation_p.P131L|ZNF532_ENST00000591808.1_Missense_Mutation_p.P131L|ZNF532_ENST00000591230.1_Missense_Mutation_p.P131L|ZNF532_ENST00000591083.1_Missense_Mutation_p.P131L	p.P131L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	1168	+			131					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.392C>T	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.989991	0.74589	.	.	ENSG00000074657	ENST00000336078	T	0.05199	3.48	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00752	-1.1581	10	0.87932	D	0	-3.1915	18.3962	0.90499	0.0:1.0:0.0:0.0	.	131	Q9HCE3	ZN532_HUMAN	L	131	ENSP00000338217:P131L	ENSP00000338217:P131L	P	+	2	0	ZNF532	54736891	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.728000	0.84847	2.440000	0.82611	0.550000	0.68814	CCG		0.498	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		24	60	0	0	0	0.083992	0	24	60				
KLK6	5653	broad.mit.edu	37	19	51466672	51466672	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr19:51466672G>A	ENST00000376851.3	-	4	770	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	KLK6_ENST00000391808.1_Missense_Mutation_p.R4C|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000594641.1_Missense_Mutation_p.R111C|KLK6_ENST00000310157.2_Missense_Mutation_p.R111C|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000456750.2_Missense_Mutation_p.R4C	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	111	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.R111C(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CGTGCCAGGCGCAACAGCATG	0.612																																						ENST00000376851.3																			1	Substitution - Missense(1)	p.R111C(1)	large_intestine(1)	endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13						c.(331-333)Cgc>Tgc		kallikrein-related peptidase 6							89.0	63.0	72.0					19																	51466672		2203	4300	6503	SO:0001583	missense	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51466672G>A	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.331C>T	19.37:g.51466672G>A	ENSP00000366047:p.Arg111Cys					KLK6_ENST00000391808.1_Missense_Mutation_p.R4C|KLK6_ENST00000456750.2_Missense_Mutation_p.R4C|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000310157.2_Missense_Mutation_p.R111C|KLK6_ENST00000594641.1_Missense_Mutation_p.R111C|CTB-147C22.8_ENST00000601506.1_RNA	p.R111C	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	4	770	-		all_neural(266;0.026)	111			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	c.331C>T	CCDS12811.1	.	.	.	.	.	.	.	.	.	.	N	22.6	4.310413	0.81358	.	.	ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	4.69	2.44	0.29823	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.185873	0.26723	N	0.022831	D	0.94115	0.8113	M	0.93016	3.37	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.74674	0.984;0.733	D	0.85886	0.1425	10	0.87932	D	0	.	5.8461	0.18667	0.0947:0.0:0.5992:0.3061	.	111;4	Q92876;Q92876-2	KLK6_HUMAN;.	C	111;111;4;4	ENSP00000309148:R111C;ENSP00000366047:R111C;ENSP00000375684:R4C;ENSP00000409241:R4C	ENSP00000309148:R111C	R	-	1	0	KLK6	56158484	0.458000	0.25760	0.429000	0.26710	0.895000	0.52256	1.511000	0.35801	1.200000	0.43188	0.486000	0.48141	CGC		0.612	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		4	53	0	0	0	0.009096	0	4	53				
HCAR2	338442	broad.mit.edu	37	12	123186916	123186916	+	Silent	SNP	G	G	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr12:123186916G>A	ENST00000328880.5	-	1	974	c.915C>T	c.(913-915)ttC>ttT	p.F305F	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	305					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	TCAAAGTGGAGAAGAAGTTGG	0.532																																						ENST00000328880.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(913-915)ttC>ttT		hydroxycarboxylic acid receptor 2	Mepenzolate(DB04843)|Niacin(DB00627)						92.0	76.0	82.0					12																	123186916		2203	4300	6503	SO:0001819	synonymous_variant	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123186916G>A	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.915C>T	12.37:g.123186916G>A						RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	p.F305F	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN			1	974	-			305					A0PJL5|A7LGG3	Silent	SNP	ENST00000328880.5	37	c.915C>T	CCDS9235.1																																																																																				0.532	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		17	61	0	0	0	0.033300	0	17	61				
PPIG	9360	broad.mit.edu	37	2	170493058	170493058	+	Silent	SNP	A	A	G			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr2:170493058A>G	ENST00000260970.3	+	14	1510	c.1290A>G	c.(1288-1290)aaA>aaG	p.K430K	PPIG_ENST00000448752.2_Silent_p.K430K|PPIG_ENST00000409714.3_Silent_p.K415K|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	430					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAGACCATAAATCTAACAGCA	0.328																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(1288-1290)aaA>aaG		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						50.0	51.0	51.0					2																	170493058		2190	4285	6475	SO:0001819	synonymous_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493058A>G	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1290A>G	2.37:g.170493058A>G						PPIG_ENST00000448752.2_Silent_p.K430K|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Silent_p.K415K	p.K430K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	1510	+			430					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Silent	SNP	ENST00000260970.3	37	c.1290A>G	CCDS2235.1																																																																																				0.328	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			11	32	0	0	0	0.093190	0	11	32				
EPB41L2	2037	broad.mit.edu	37	6	131216167	131216167	+	Silent	SNP	C	C	T	rs376962561		TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr6:131216167C>T	ENST00000337057.3	-	9	1510	c.1329G>A	c.(1327-1329)ccG>ccA	p.P443P	EPB41L2_ENST00000368128.2_Silent_p.P443P|EPB41L2_ENST00000527411.1_Silent_p.P443P|EPB41L2_ENST00000445890.2_Silent_p.P443P|EPB41L2_ENST00000392427.3_Silent_p.P443P|EPB41L2_ENST00000530481.1_Silent_p.P443P|EPB41L2_ENST00000527659.1_Silent_p.P443P|EPB41L2_ENST00000529208.1_Silent_p.P443P|EPB41L2_ENST00000525193.1_Silent_p.P443P|EPB41L2_ENST00000525271.1_Silent_p.P443P|EPB41L2_ENST00000528282.1_Silent_p.P443P	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	443	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTAAGATTTTCGGCCAAGCAA	0.433																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(1327-1329)ccG>ccA		erythrocyte membrane protein band 4.1-like 2		C	,,,,	1,4405	2.1+/-5.4	0,1,2202	116.0	106.0	109.0		1329,1329,1329,1329,1329	-3.9	1.0	6		109	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EPB41L2	NM_001135554.1,NM_001135555.2,NM_001199388.1,NM_001199389.1,NM_001431.3	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	443/674,443/674,443/853,443/853,443/1006	131216167	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131216167C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1329G>A	6.37:g.131216167C>T						EPB41L2_ENST00000527411.1_Silent_p.P443P|EPB41L2_ENST00000392427.3_Silent_p.P443P|EPB41L2_ENST00000525271.1_Silent_p.P443P|EPB41L2_ENST00000530481.1_Silent_p.P443P|EPB41L2_ENST00000525193.1_Silent_p.P443P|EPB41L2_ENST00000445890.2_Silent_p.P443P|EPB41L2_ENST00000529208.1_Silent_p.P443P|EPB41L2_ENST00000528282.1_Silent_p.P443P|EPB41L2_ENST00000527659.1_Silent_p.P443P|EPB41L2_ENST00000368128.2_Silent_p.P443P	p.P443P	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	9	1510	-	Breast(56;0.0639)		443			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	37	c.1329G>A	CCDS5141.1																																																																																				0.433	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			24	69	0	0	0	0.083992	0	24	69				
CNGA1	1259	broad.mit.edu	37	4	47938768	47938768	+	Silent	SNP	G	G	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr4:47938768G>C	ENST00000514170.1	-	11	2062	c.1743C>G	c.(1741-1743)ctC>ctG	p.L581L	CNGA1_ENST00000544810.1_Silent_p.L581L|CNGA1_ENST00000420489.2_Silent_p.L581L|CNGA1_ENST00000402813.3_Silent_p.L650L|CNGA1_ENST00000358519.4_Silent_p.L581L			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	581					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GAGCTTCCATGAGGTCATCTT	0.408																																						ENST00000402813.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						c.(1948-1950)ctC>ctG		cyclic nucleotide gated channel alpha 1							132.0	129.0	130.0					4																	47938768		1975	4206	6181	SO:0001819	synonymous_variant	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47938768G>C	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1743C>G	4.37:g.47938768G>C						CNGA1_ENST00000358519.4_Silent_p.L581L|CNGA1_ENST00000420489.2_Silent_p.L581L|CNGA1_ENST00000514170.1_Silent_p.L581L|CNGA1_ENST00000544810.1_Silent_p.L581L	p.L650L			P29973	CNGA1_HUMAN			10	2092	-			581					A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Silent	SNP	ENST00000514170.1	37	c.1950C>G	CCDS43226.1																																																																																				0.408	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		56	161	0	0	0	0.139131	0	56	161				
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	lincRNA	SNP	A	A	G	rs9729175	byFrequency	TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:148933289A>G	ENST00000539543.1	+	0	176					NR_027355.2																						TGCTGCCCGCAGGATATTGTG	0.562													.|||	630	0.125799	0.112	0.1282	5008	,	,		27649	0.1796		0.0656	False		,,,				2504	0.1493					ENST00000539543.1																			0																																																			0							g.chr1:148933289A>G																													1.37:g.148933289A>G								NR_027355.1						0	176	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.562	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				4	18	0	0	0	0.014758	0	4	18				
TPTE2P6	374491	broad.mit.edu	37	13	25161438	25161438	+	RNA	SNP	T	T	A	rs3869320		TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr13:25161438T>A	ENST00000453498.1	+	0	962				TPTE2P6_ENST00000440905.1_RNA																							CTCTTTATAATAAGATTCATT	0.378																																						ENST00000453498.1																			0																																																			0							g.chr13:25161438T>A																													13.37:g.25161438T>A														0	962	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.378	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			6	38	0	0	0	0.038147	0	6	38				
CA3	761	broad.mit.edu	37	8	86352079	86352079	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr8:86352079C>A	ENST00000285381.2	+	2	256	c.173C>A	c.(172-174)aCc>aAc	p.T58N	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	58					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	TCTGCCAAGACCATCCTGAAT	0.453																																						ENST00000285381.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(172-174)aCc>aAc		carbonic anhydrase III, muscle specific							112.0	95.0	101.0					8																	86352079		2203	4300	6503	SO:0001583	missense	761				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr8:86352079C>A	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.173C>A	8.37:g.86352079C>A	ENSP00000285381:p.Thr58Asn						p.T58N	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN			2	256	+			58					B2R867|B3KUC8|O60842	Missense_Mutation	SNP	ENST00000285381.2	37	c.173C>A	CCDS6238.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965187	0.34659	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	T	0.67345	-0.26	5.81	4.94	0.65067	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.240380	0.49916	D	0.000123	T	0.61502	0.2352	L	0.45228	1.405	0.40767	D	0.983059	P	0.39311	0.667	B	0.42188	0.379	T	0.59129	-0.7512	10	0.22706	T	0.39	-17.6083	13.9647	0.64202	0.0:0.9277:0.0:0.0723	.	58	P07451	CAH3_HUMAN	N	58;42	ENSP00000285381:T58N	ENSP00000285381:T58N	T	+	2	0	CA3	86539331	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	0.903000	0.28475	1.464000	0.47987	-0.142000	0.14014	ACC		0.453	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		5	73	1	0	0.00116845	0.021553	0.00130431	5	73				
UBD	10537	broad.mit.edu	37	6	29523919	29523919	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr6:29523919T>C	ENST00000377050.4	-	2	459	c.236A>G	c.(235-237)aAa>aGa	p.K79R	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	79	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	proteasome binding (GO:0070628)			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CTTCACCACTTTCAGGGTAAG	0.527																																						ENST00000377050.4																			0				kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(235-237)aAa>aGa		ubiquitin D							65.0	70.0	68.0					6																	29523919		1510	2709	4219	SO:0001583	missense	10537				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding	g.chr6:29523919T>C	Y12653	CCDS4662.1	6p21.3	2008-04-11			ENSG00000213886	ENSG00000213886			18795	protein-coding gene	gene with protein product		606050				9368598, 8662070	Standard	NM_006398		Approved	FAT10	uc003nmo.3	O15205	OTTHUMG00000031289	ENST00000377050.4:c.236A>G	6.37:g.29523919T>C	ENSP00000366249:p.Lys79Arg					GABBR1_ENST00000355973.3_3'UTR	p.K79R	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN			2	459	-			79			Ubiquitin 1.		B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Missense_Mutation	SNP	ENST00000377050.4	37	c.236A>G	CCDS4662.1	.	.	.	.	.	.	.	.	.	.	T	2.771	-0.255774	0.05829	.	.	ENSG00000213886	ENST00000377050	T	0.71698	-0.59	5.38	0.279	0.15677	Ubiquitin supergroup (2);Ubiquitin (2);	0.000000	0.38164	U	0.001782	T	0.23249	0.0562	N	0.17764	0.52	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.37641	-0.9697	10	0.02654	T	1	-19.6413	7.7271	0.28765	0.0:0.3512:0.0:0.6488	.	79	O15205	UBD_HUMAN	R	79	ENSP00000366249:K79R	ENSP00000366249:K79R	K	-	2	0	UBD	29631898	1.000000	0.71417	0.995000	0.50966	0.816000	0.46133	1.952000	0.40343	-0.175000	0.10725	-0.314000	0.08810	AAA		0.527	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076628.3			13	41	0	0	0	0.119110	0	13	41				
PAPPA	5069	broad.mit.edu	37	9	119109476	119109476	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr9:119109476G>T	ENST00000328252.3	+	15	4321	c.3952G>T	c.(3952-3954)Gca>Tca	p.A1318S	PAPPA_ENST00000534838.1_Missense_Mutation_p.A356S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1318	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCGTCACCCTGCACAATTGAA	0.537																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(3952-3954)Gca>Tca		pregnancy-associated plasma protein A, pappalysin 1							136.0	101.0	113.0					9																	119109476		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119109476G>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3952G>T	9.37:g.119109476G>T	ENSP00000330658:p.Ala1318Ser					PAPPA_ENST00000534838.1_Missense_Mutation_p.A356S	p.A1318S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			15	4321	+			1318			Sushi 2.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.3952G>T	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660093	0.88154	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.23754	1.89;1.89	5.86	4.96	0.65561	Complement control module (2);Sushi/SCR/CCP (3);	0.045342	0.85682	N	0.000000	T	0.55609	0.1931	M	0.84326	2.69	0.80722	D	1	P;D	0.89917	0.513;1.0	B;D	0.87578	0.103;0.998	T	0.63488	-0.6626	10	0.66056	D	0.02	-11.0021	16.4197	0.83754	0.0:0.0:0.8675:0.1325	.	356;1318	F5GZ19;Q13219	.;PAPP1_HUMAN	S	1318;356	ENSP00000330658:A1318S;ENSP00000441461:A356S	ENSP00000330658:A1318S	A	+	1	0	PAPPA	118149297	1.000000	0.71417	0.927000	0.36925	0.803000	0.45373	7.953000	0.87836	1.467000	0.48044	0.655000	0.94253	GCA		0.537	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		5	59	1	0	0.000602214	0.014758	0.000688245	5	59				
NTM	50863	broad.mit.edu	37	11	132177583	132177583	+	Splice_Site	SNP	C	C	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr11:132177583C>T	ENST00000374786.1	+	4	1006	c.527C>T	c.(526-528)gCg>gTg	p.A176V	NTM_ENST00000374791.3_Splice_Site_p.A176V|NTM_ENST00000427481.2_Splice_Site_p.A167V|NTM_ENST00000539799.1_Splice_Site_p.A176V|NTM_ENST00000374784.1_Splice_Site_p.A176V|NTM_ENST00000425719.2_Splice_Site_p.A176V|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	176	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TTTCCCGCAGCGGTTGGCTTT	0.463																																						ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.e4-1		neurotrimin							87.0	85.0	86.0					11																	132177583		2201	4297	6498	SO:0001630	splice_region_variant	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132177583C>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.527-1C>T	11.37:g.132177583C>T						NTM_ENST00000374784.1_Splice_Site_p.A176_splice|NTM_ENST00000425719.2_Splice_Site_p.A176_splice|NTM_ENST00000427481.2_Splice_Site_p.A167_splice|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Splice_Site_p.A176_splice|NTM_ENST00000539799.1_Splice_Site_p.A176_splice	p.A176_splice	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			4	1006	+			176			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Splice_Site	SNP	ENST00000374786.1	37	c.526_splice	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906007	0.52333	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.102694	0.64402	D	0.000003	T	0.68274	0.2983	L	0.45470	1.425	0.49687	D	0.999817	P;P;P;P;B;P	0.46142	0.782;0.782;0.741;0.782;0.23;0.873	B;P;B;B;B;B	0.46659	0.418;0.523;0.294;0.206;0.063;0.348	T	0.65047	-0.6263	9	.	.	.	.	20.0185	0.97487	0.0:1.0:0.0:0.0	.	176;167;176;176;176;176	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	V	176;176;167;167;176;176;176	ENSP00000363923:A176V;ENSP00000437668:A176V;ENSP00000448104:A167V;ENSP00000416320:A167V;ENSP00000363918:A176V;ENSP00000396722:A176V;ENSP00000363916:A176V	.	A	+	2	0	NTM	131682793	0.912000	0.30974	0.991000	0.47740	0.148000	0.21650	2.071000	0.41500	2.809000	0.96659	0.467000	0.42956	GCG		0.463	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522	Missense_Mutation	10	58	0	0	0	0.069234	0	10	58				
CLEC4A	50856	broad.mit.edu	37	12	8290795	8290795	+	Missense_Mutation	SNP	G	G	A	rs375140919		TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr12:8290795G>A	ENST00000229332.5	+	6	873	c.626G>A	c.(625-627)cGt>cAt	p.R209H	CLEC4A_ENST00000352620.3_Missense_Mutation_p.R176H|CLEC4A_ENST00000360500.3_Missense_Mutation_p.R170H|CLEC4A_ENST00000345999.3_Missense_Mutation_p.R137H	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	209	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		CTAAATTTTCGTAAATCACCC	0.433													g|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.001					ENST00000229332.5																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(625-627)cGt>cAt		C-type lectin domain family 4, member A		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	172.0	149.0	156.0		626,509,410,527	-6.0	0.0	12		156	0,8600		0,0,4300	no	missense,missense,missense,missense	CLEC4A	NM_016184.3,NM_194447.2,NM_194448.2,NM_194450.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	209/238,170/199,137/166,176/205	8290795	1,13005	2203	4300	6503	SO:0001583	missense	50856				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:8290795G>A	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.626G>A	12.37:g.8290795G>A	ENSP00000229332:p.Arg209His					CLEC4A_ENST00000360500.3_Missense_Mutation_p.R170H|CLEC4A_ENST00000352620.3_Missense_Mutation_p.R176H|CLEC4A_ENST00000345999.3_Missense_Mutation_p.R137H	p.R209H	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN		Kidney(36;0.0915)	6	873	+			209			C-type lectin.		Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	ENST00000229332.5	37	c.626G>A	CCDS8590.1	.	.	.	.	.	.	.	.	.	.	G	7.922	0.738849	0.15642	2.27E-4	0.0	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	3.0	-6.0	0.02206	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	2.476500	0.01943	N	0.042020	T	0.05547	0.0146	N	0.11106	0.095	0.09310	N	1	B;B;P;B	0.35411	0.103;0.103;0.5;0.126	B;B;B;B	0.29716	0.021;0.06;0.106;0.036	T	0.24728	-1.0152	10	0.09084	T	0.74	.	0.8766	0.01225	0.4398:0.1383:0.2083:0.2136	.	170;137;176;209	Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.;.;.;CLC4A_HUMAN	H	209;137;176;170	ENSP00000229332:R209H;ENSP00000344646:R137H;ENSP00000247243:R176H;ENSP00000353690:R170H	ENSP00000229332:R209H	R	+	2	0	CLEC4A	8182062	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.884000	0.04166	-1.684000	0.01443	-0.198000	0.12761	CGT		0.433	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450		7	99	0	0	0	0.029380	0	7	99				
LPHN3	23284	broad.mit.edu	37	4	62903460	62903460	+	Silent	SNP	G	G	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr4:62903460G>A	ENST00000514591.1	+	23	3728	c.3399G>A	c.(3397-3399)gaG>gaA	p.E1133E	LPHN3_ENST00000511324.1_Silent_p.E1192E|LPHN3_ENST00000507164.1_Silent_p.E1192E|LPHN3_ENST00000514157.1_Silent_p.E1124E|LPHN3_ENST00000504896.1_Silent_p.E1133E|LPHN3_ENST00000507625.1_Silent_p.E1192E|LPHN3_ENST00000512091.2_Silent_p.E1133E|LPHN3_ENST00000506720.1_Silent_p.E1201E|LPHN3_ENST00000514996.1_Silent_p.E1124E|LPHN3_ENST00000545650.1_Silent_p.E1133E|LPHN3_ENST00000506746.1_Silent_p.E1192E|LPHN3_ENST00000508946.1_Silent_p.E1133E|LPHN3_ENST00000506700.1_Silent_p.E1124E|LPHN3_ENST00000509896.1_Silent_p.E1201E|LPHN3_ENST00000508693.1_Silent_p.E1201E			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1111					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACGAAAAGAGTATGGGAAAT	0.388																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(3397-3399)gaG>gaA		latrophilin 3							131.0	130.0	131.0					4																	62903460		1912	4146	6058	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62903460G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3399G>A	4.37:g.62903460G>A						LPHN3_ENST00000508693.1_Silent_p.E1201E|LPHN3_ENST00000509896.1_Silent_p.E1201E|LPHN3_ENST00000506700.1_Silent_p.E1124E|LPHN3_ENST00000506720.1_Silent_p.E1201E|LPHN3_ENST00000514591.1_Silent_p.E1133E|LPHN3_ENST00000511324.1_Silent_p.E1192E|LPHN3_ENST00000514157.1_Silent_p.E1124E|LPHN3_ENST00000545650.1_Silent_p.E1133E|LPHN3_ENST00000506746.1_Silent_p.E1192E|LPHN3_ENST00000514996.1_Silent_p.E1124E|LPHN3_ENST00000508946.1_Silent_p.E1133E|LPHN3_ENST00000507164.1_Silent_p.E1192E|LPHN3_ENST00000504896.1_Silent_p.E1133E|LPHN3_ENST00000507625.1_Silent_p.E1192E	p.E1133E			Q9HAR2	LPHN3_HUMAN			23	4146	+			1111					E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.3399G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	7.743	0.701735	0.15172	.	.	ENSG00000150471	ENST00000502815	.	.	.	5.19	1.12	0.20585	.	.	.	.	.	T	0.57315	0.2045	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50591	-0.8810	4	.	.	.	.	9.1986	0.37244	0.5326:0.0:0.4674:0.0	.	.	.	.	I	582	.	.	V	+	1	0	LPHN3	62586055	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.084000	0.30828	0.226000	0.20979	0.650000	0.86243	GTA		0.388	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			5	64	0	0	0	0.014758	0	5	64				
RP1L1	94137	broad.mit.edu	37	8	10468680	10468680	+	Silent	SNP	C	C	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr8:10468680C>T	ENST00000382483.3	-	4	3151	c.2928G>A	c.(2926-2928)gcG>gcA	p.A976A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	976					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGGTCTCGTCCGCCAACTCAT	0.632																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(2926-2928)gcG>gcA		retinitis pigmentosa 1-like 1							53.0	58.0	56.0					8																	10468680		1951	4132	6083	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10468680C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2928G>A	8.37:g.10468680C>T							p.A976A	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3151	-			976					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.2928G>A	CCDS43708.1																																																																																				0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			28	140	0	0	0	0.045705	0	28	140				
SIAH3	283514	broad.mit.edu	37	13	46357972	46357972	+	Missense_Mutation	SNP	C	C	T	rs376694319		TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr13:46357972C>T	ENST00000400405.2	-	2	462	c.356G>A	c.(355-357)cGc>cAc	p.R119H		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	119					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CACCTCCAGGCGGCCTTCCCA	0.672																																						ENST00000400405.2																			0				large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						c.(355-357)cGc>cAc		siah E3 ubiquitin protein ligase family member 3		T	HIS/ARG	1,4163		0,1,2081	59.0	66.0	64.0		356	1.3	1.0	13		64	0,8416		0,0,4208	no	missense	SIAH3	NM_198849.2	29	0,1,6289	TT,TC,CC		0.0,0.024,0.0079	benign	119/270	46357972	1,12579	2082	4208	6290	SO:0001583	missense	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46357972C>T		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.356G>A	13.37:g.46357972C>T	ENSP00000383256:p.Arg119His						p.R119H	NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN			2	462	-			119					B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	c.356G>A	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	T	3.619	-0.077955	0.07184	2.4E-4	0.0	ENSG00000215475	ENST00000400405	T	0.26518	1.73	5.19	1.34	0.21922	Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.791174	0.11551	N	0.552757	T	0.07908	0.0198	N	0.00926	-1.1	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.40720	-0.9548	10	0.14656	T	0.56	-4.98	9.1497	0.36955	0.0:0.2887:0.0:0.7113	.	119	Q8IW03	SIAH3_HUMAN	H	119	ENSP00000383256:R119H	ENSP00000383256:R119H	R	-	2	0	SIAH3	45255973	1.000000	0.71417	0.995000	0.50966	0.914000	0.54420	2.421000	0.44688	-0.238000	0.09724	-1.327000	0.01280	CGC		0.672	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		18	62	0	0	0	0.055883	0	18	62				
ADAMTS16	170690	broad.mit.edu	37	5	5190127	5190127	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr5:5190127G>A	ENST00000274181.7	+	7	1229	c.1091G>A	c.(1090-1092)aGc>aAc	p.S364N	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.S364N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	364	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACCTTAAGTAGCTTCTGCCAG	0.483																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1090-1092)aGc>aAc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							126.0	124.0	125.0					5																	5190127		2052	4215	6267	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5190127G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1091G>A	5.37:g.5190127G>A	ENSP00000274181:p.Ser364Asn					ADAMTS16_ENST00000511368.1_Missense_Mutation_p.S364N	p.S364N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			7	1229	+			364			Peptidase M12B.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1091G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	33	5.196745	0.94960	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	D;D	0.86694	-2.16;-2.16	5.37	5.37	0.77165	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.88735	0.6517	L	0.28694	0.88	0.80722	D	1	D;D;D	0.89917	1.0;0.957;0.965	D;P;P	0.87578	0.998;0.781;0.819	D	0.84290	0.0499	10	0.10377	T	0.69	.	17.9034	0.88911	0.0:0.0:1.0:0.0	.	364;364;364	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	N	364	ENSP00000274181:S364N;ENSP00000421631:S364N	ENSP00000274181:S364N	S	+	2	0	ADAMTS16	5243127	1.000000	0.71417	0.987000	0.45799	0.924000	0.55760	9.216000	0.95154	2.510000	0.84645	0.650000	0.86243	AGC		0.483	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		20	79	0	0	0	0.043863	0	20	79				
ZNF502	91392	broad.mit.edu	37	3	44762640	44762640	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr3:44762640A>G	ENST00000296091.4	+	4	587	c.331A>G	c.(331-333)Acc>Gcc	p.T111A	ZNF502_ENST00000436624.2_Missense_Mutation_p.T111A|ZNF502_ENST00000449836.1_Missense_Mutation_p.T111A	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTTGCTTTTGACCTCAAGCCT	0.383																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(331-333)Acc>Gcc		zinc finger protein 502							62.0	63.0	63.0					3																	44762640		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44762640A>G	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.331A>G	3.37:g.44762640A>G	ENSP00000296091:p.Thr111Ala					ZNF502_ENST00000449836.1_Missense_Mutation_p.T111A|ZNF502_ENST00000436624.2_Missense_Mutation_p.T111A	p.T111A	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	587	+			111						Missense_Mutation	SNP	ENST00000296091.4	37	c.331A>G	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.152365	0.57259	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624;ENST00000427783;ENST00000411443	T;T;T;T	0.50277	3.36;3.36;3.36;0.75	4.42	4.42	0.53409	.	.	.	.	.	T	0.27313	0.0670	N	0.08118	0	0.25918	N	0.983141	D	0.52996	0.957	P	0.44696	0.458	T	0.02070	-1.1219	9	0.18710	T	0.47	-5.666	7.4791	0.27393	0.8078:0.0:0.0:0.1922	.	111	Q8TBZ5	ZN502_HUMAN	A	111	ENSP00000397390:T111A;ENSP00000296091:T111A;ENSP00000406469:T111A;ENSP00000401717:T111A	ENSP00000296091:T111A	T	+	1	0	ZNF502	44737644	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	1.927000	0.40094	1.995000	0.58328	0.533000	0.62120	ACC		0.383	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		7	92	0	0	0	0.038147	0	7	92				
STIL	6491	broad.mit.edu	37	1	47717391	47717391	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:47717391C>A	ENST00000360380.3	-	18	3644	c.3281G>T	c.(3280-3282)aGc>aTc	p.S1094I	STIL_ENST00000371877.3_Missense_Mutation_p.S1095I|STIL_ENST00000396221.2_Missense_Mutation_p.S1077I|STIL_ENST00000337817.5_Missense_Mutation_p.S1094I|STIL_ENST00000243182.6_Missense_Mutation_p.S1094I	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1094					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATGGAGAAGGCTGAATGGGTC	0.368																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(3280-3282)aGc>aTc		SCL/TAL1 interrupting locus							154.0	159.0	157.0					1																	47717391		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47717391C>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3281G>T	1.37:g.47717391C>A	ENSP00000353544:p.Ser1094Ile					STIL_ENST00000396221.2_Missense_Mutation_p.S1077I|STIL_ENST00000337817.5_Missense_Mutation_p.S1094I|STIL_ENST00000243182.6_Missense_Mutation_p.S1094I|STIL_ENST00000371877.3_Missense_Mutation_p.S1095I	p.S1094I			Q15468	STIL_HUMAN			18	3644	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	1094					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.3281G>T	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589263	0.66105	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.14;2.13	5.58	4.66	0.58398	.	0.627824	0.17545	N	0.170372	T	0.25195	0.0612	L	0.43152	1.355	0.23043	N	0.998381	D;D;D	0.59767	0.986;0.986;0.986	P;P;P	0.51016	0.656;0.656;0.656	T	0.10177	-1.0641	10	0.62326	D	0.03	-5.5869	7.4688	0.27336	0.0:0.7023:0.1394:0.1583	.	1077;1095;1094	E9PSF2;Q15468-2;Q15468	.;.;STIL_HUMAN	I	1094;1094;1095;1077;1094	ENSP00000353544:S1094I;ENSP00000337367:S1094I;ENSP00000360944:S1095I;ENSP00000379523:S1077I;ENSP00000243182:S1094I	ENSP00000243182:S1094I	S	-	2	0	STIL	47489978	0.999000	0.42202	0.825000	0.32803	0.972000	0.66771	2.068000	0.41471	1.355000	0.45865	0.460000	0.39030	AGC		0.368	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		9	209	1	0	0.00621372	0.058154	0.0067786	9	209				
CACNA1E	777	broad.mit.edu	37	1	181702058	181702058	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:181702058C>T	ENST00000367573.2	+	20	2836	c.2836C>T	c.(2836-2838)Cgc>Tgc	p.R946C	CACNA1E_ENST00000360108.3_Missense_Mutation_p.R927C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R878C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R897C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R553C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R927C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R946C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	946					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGCCAGGAACGCAGTCTGGA	0.627																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2779-2781)Cgc>Tgc		calcium channel, voltage-dependent, R type, alpha 1E subunit							72.0	80.0	77.0					1																	181702058		2154	4265	6419	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702058C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2836C>T	1.37:g.181702058C>T	ENSP00000356545:p.Arg946Cys					CACNA1E_ENST00000367570.1_Missense_Mutation_p.R946C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R878C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R946C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R553C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R927C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R897C	p.R927C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			19	2944	+			946					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2779C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945695	0.53079	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96554	-3.97;-3.98;-3.98;-3.98;-4.05;-3.99;-3.98	4.03	4.03	0.46877	.	1.154780	0.06001	N	0.647875	D	0.92237	0.7538	N	0.08118	0	0.40202	D	0.977524	D;D;D	0.63880	0.987;0.993;0.987	P;P;P	0.47705	0.555;0.548;0.555	D	0.87399	0.2368	10	0.72032	D	0.01	.	7.2332	0.26055	0.2366:0.6061:0.1572:0.0	.	927;946;946	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	C	946;927;897;878;553;927;946	ENSP00000356542:R946C;ENSP00000434814:R927C;ENSP00000350183:R897C;ENSP00000351101:R878C;ENSP00000356539:R553C;ENSP00000353222:R927C;ENSP00000356545:R946C	ENSP00000350183:R897C	R	+	1	0	CACNA1E	179968681	0.996000	0.38824	1.000000	0.80357	0.776000	0.43924	0.548000	0.23314	2.534000	0.85438	0.555000	0.69702	CGC		0.627	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		25	99	0	0	0	0.083992	0	25	99				
EPHX3	79852	broad.mit.edu	37	19	15338333	15338333	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr19:15338333G>T	ENST00000221730.3	-	7	1218	c.998C>A	c.(997-999)cCa>cAa	p.P333Q	EPHX3_ENST00000602233.1_Missense_Mutation_p.P333Q|EPHX3_ENST00000435261.1_Missense_Mutation_p.P333Q	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	333						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CCCTATGCCTGGCAGGATGTG	0.617																																						ENST00000221730.3																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						c.(997-999)cCa>cAa		epoxide hydrolase 3							73.0	67.0	69.0					19																	15338333		2203	4300	6503	SO:0001583	missense	79852					extracellular region	hydrolase activity	g.chr19:15338333G>T	AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"""Abhydrolase domain containing"""	23760	protein-coding gene	gene with protein product			"""abhydrolase domain containing 9"""	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.998C>A	19.37:g.15338333G>T	ENSP00000221730:p.Pro333Gln					EPHX3_ENST00000602233.1_Missense_Mutation_p.P333Q|EPHX3_ENST00000435261.1_Missense_Mutation_p.P333Q	p.P333Q	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN			7	1218	-			333					A3KMR3	Missense_Mutation	SNP	ENST00000221730.3	37	c.998C>A	CCDS12327.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958325	0.53400	.	.	ENSG00000105131	ENST00000221730;ENST00000435261	T;T	0.72942	-0.7;-0.7	4.63	3.57	0.40892	.	0.105878	0.40222	N	0.001141	D	0.83285	0.5221	M	0.91140	3.18	0.44745	D	0.997741	D	0.53151	0.958	P	0.58210	0.835	D	0.85670	0.1294	10	0.66056	D	0.02	-7.0738	10.7701	0.46316	0.0:0.1913:0.8087:0.0	.	333	Q9H6B9	EPHX3_HUMAN	Q	333	ENSP00000221730:P333Q;ENSP00000410323:P333Q	ENSP00000221730:P333Q	P	-	2	0	EPHX3	15199333	1.000000	0.71417	0.818000	0.32626	0.474000	0.32979	3.673000	0.54591	1.152000	0.42452	0.549000	0.68633	CCA		0.617	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1	NM_024794		16	57	1	0	3.41278e-10	0.033300	4.09534e-10	16	57				
FAM105A	54491	broad.mit.edu	37	5	14601484	14601487	+	Frame_Shift_Del	DEL	TTGA	TTGA	-			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr5:14601484_14601487delTTGA	ENST00000274217.3	+	4	401_404	c.281_284delTTGA	c.(280-285)gttgatfs	p.VD94fs		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	94										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					GAGGCAGAGGTTGATTTACTCAGT	0.426																																						ENST00000274217.3																			0				large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(280-285)gtfs		family with sequence similarity 105, member A																																				SO:0001589	frameshift_variant	54491							g.chr5:14601484_14601487delTTGA		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.281_284delTTGA	5.37:g.14601484_14601487delTTGA	ENSP00000274217:p.Val94fs						p.VD94fs	NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN			4	401_404	+	Lung NSC(4;0.00592)		94					Q53H50|Q9H037	Frame_Shift_Del	DEL	ENST00000274217.3	37	c.281_284delTTGA	CCDS3884.1																																																																																				0.426	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		11	59						11	59	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)tgcfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.53																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1210-1212)cfs		NADPH oxidase 3																																				SO:0001589	frameshift_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743925_155743926delCA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1210_1211delTG	6.37:g.155743933_155743934delCA	ENSP00000159060:p.Cys404fs						p.C404fs	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1312_1313	-		Breast(66;0.0183)	404					Q9HBJ9	Frame_Shift_Del	DEL	ENST00000159060.2	37	c.1210_1211delTG	CCDS5250.1																																																																																				0.530	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			7	201						7	201	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7191583	7191584	+	lincRNA	DEL	AC	AC	-			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr8:7191583_7191584delAC	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		acgcacgcaaacacacacacac	0.51																																						ENST00000606573.1																			0																																																			0							g.chr8:7191583_7191584delAC			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7191593_7191594delAC														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.510	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		4	7						4	7	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	4						3	4	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112402	112405	+	RNA	DEL	AACC	AACC	-	rs113232824|rs111811281|rs11080396		TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr18:112402_112405delAACC	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CCCTGCCCCGAACCACCCGACCCC	0.711																																						ENST00000576266.1																			0																																																			0							g.chr18:112402_112405delAACC			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112402_112405delAACC														0	36_39	+									RNA	DEL	ENST00000608049.1	37																																																																																						0.711	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			5	7						5	7	---	---	---	---
ZCCHC3	85364	broad.mit.edu	37	20	279007	279007	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr20:279007delC	ENST00000382352.3	+	1	1271	c.780delC	c.(778-780)ttcfs	p.F260fs		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	260							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TCATCCTCTTCCGGAACGAGA	0.597																																						ENST00000382352.3																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(778-780)ttfs		zinc finger, CCHC domain containing 3							70.0	75.0	73.0					20																	279007		2132	4248	6380	SO:0001589	frameshift_variant	85364						nucleic acid binding|zinc ion binding	g.chr20:279007delC	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.780delC	20.37:g.279007delC	ENSP00000371789:p.Phe260fs						p.F260fs	NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	1271	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	260					Q3B7J3|Q6NT79	Frame_Shift_Del	DEL	ENST00000382352.3	37	c.780delC	CCDS42844.1																																																																																				0.597	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			25	74						25	74	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44672552	44672552	+	Frame_Shift_Del	DEL	G	G	-	rs145624716		TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr20:44672552delG	ENST00000454036.2	+	11	1492	c.1443delG	c.(1441-1443)gagfs	p.E481fs	SLC12A5_ENST00000243964.3_Frame_Shift_Del_p.E458fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	481					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCTGCATTGAGGGGGTCGTCC	0.557																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1441-1443)gafs		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						121.0	115.0	117.0					20																	44672552		2203	4300	6503	SO:0001589	frameshift_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44672552delG	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1443delG	20.37:g.44672552delG	ENSP00000387694:p.Glu481fs					SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Frame_Shift_Del_p.E458fs	p.E481fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			11	1519	+		Myeloproliferative disorder(115;0.0122)	481					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Frame_Shift_Del	DEL	ENST00000454036.2	37	c.1443delG	CCDS46610.1																																																																																				0.557	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			8	187						8	187	---	---	---	---
