#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AKT2	208	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	40742002	40742002	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr19:40742002C>G	ENST00000392038.2	-	11	1268	c.970G>C	c.(970-972)Gac>Cac	p.D324H	AKT2_ENST00000311278.6_Missense_Mutation_p.D281H|AKT2_ENST00000424901.1_Missense_Mutation_p.D324H|AKT2_ENST00000579047.1_Missense_Mutation_p.D262H	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	324	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.D324H(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TAGTCATTGTCCTCCAGCACC	0.632			A		"""ovarian, pancreatic """																																			Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	1	Substitution - Missense(1)	kidney(1)											73.0	58.0	63.0					19																	40742002		2203	4300	6503	SO:0001583	missense	208			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.970G>C	19.37:g.40742002C>G	ENSP00000375892:p.Asp324His		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	37	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	C	34	5.293050	0.95546	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278;ENST00000391845	T;T;T	0.25749	1.78;1.78;1.78	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.042391	0.85682	D	0.000000	T	0.36276	0.0961	L	0.27944	0.81	0.80722	D	1	B;P;D	0.61080	0.329;0.612;0.989	B;P;P	0.58577	0.363;0.551;0.841	T	0.11179	-1.0598	10	0.87932	D	0	.	18.5101	0.90913	0.0:1.0:0.0:0.0	.	262;281;324	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	H	324;225;324;281;144	ENSP00000375892:D324H;ENSP00000399532:D324H;ENSP00000309428:D281H	ENSP00000309428:D281H	D	-	1	0	AKT2	45433842	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.773000	0.85462	2.674000	0.91012	0.561000	0.74099	GAC		0.632	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1		NM_001626	
BCL11B	64919	broad.mit.edu;hgsc.bcm.edu	37	14	99640783	99640783	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr14:99640783G>A	ENST00000357195.3	-	4	2399	c.2390C>T	c.(2389-2391)aCg>aTg	p.T797M	BCL11B_ENST00000443726.2_Missense_Mutation_p.T603M|BCL11B_ENST00000345514.2_Missense_Mutation_p.T726M	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	797					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)	p.T797M(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GTACTCGCACGTGTCGCTGCG	0.721			T	TLX3	T-ALL																																			Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	1	Substitution - Missense(1)	kidney(1)											22.0	19.0	20.0					14																	99640783		2199	4294	6493	SO:0001583	missense	64919			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2390C>T	14.37:g.99640783G>A	ENSP00000349723:p.Thr797Met		Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.484261	0.63962	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.07800	3.16;3.16;3.16	4.16	3.25	0.37280	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.183165	0.32687	N	0.005777	T	0.26702	0.0653	M	0.72894	2.215	0.53005	D	0.999966	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.01762	-1.1279	10	0.72032	D	0.01	-13.0255	13.4122	0.60948	0.0:0.0:0.8413:0.1587	.	726;797	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	M	797;726;603	ENSP00000349723:T797M;ENSP00000280435:T726M;ENSP00000387419:T603M	ENSP00000280435:T726M	T	-	2	0	BCL11B	98710536	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.400000	0.79949	0.851000	0.35264	0.561000	0.74099	ACG		0.721	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2		NM_138576	
C1orf52	148423	broad.mit.edu	37	1	85725279	85725279	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr1:85725279G>A	ENST00000471115.1	-	1	46	c.38C>T	c.(37-39)gCg>gTg	p.A13V	C1orf52_ENST00000344356.5_Missense_Mutation_p.A13V|C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	13							poly(A) RNA binding (GO:0044822)	p.A13V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		CCCGTATGCCGCAAAATAGCT	0.652											OREG0013580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											18.0	16.0	17.0					1																	85725279		2203	4299	6502	SO:0001583	missense	148423			BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.38C>T	1.37:g.85725279G>A	ENSP00000419417:p.Ala13Val	1239	B3KX89|Q8TDK5|Q8TDK6	Missense_Mutation	SNP	ENST00000471115.1	37	CCDS703.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.588065	0.66105	.	.	ENSG00000162642	ENST00000471115;ENST00000344356	.	.	.	5.64	4.73	0.59995	.	0.055194	0.64402	D	0.000001	T	0.29458	0.0734	L	0.54323	1.7	0.47065	D	0.999303	P;B	0.45283	0.855;0.265	B;B	0.29440	0.102;0.049	T	0.39099	-0.9630	9	0.66056	D	0.02	-2.7477	14.7442	0.69477	0.0695:0.0:0.9304:0.0	.	13;13	Q8N6N3-2;Q8N6N3	.;CA052_HUMAN	V	13	.	ENSP00000345092:A13V	A	-	2	0	C1orf52	85497867	1.000000	0.71417	0.665000	0.29768	0.061000	0.15899	6.189000	0.72051	1.523000	0.49018	0.637000	0.83480	GCG		0.652	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027616.2		NM_198077	
CDHR5	53841	hgsc.bcm.edu	37	11	618965	618967	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	GTT	GTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr11:618965_618967delGTT	ENST00000358353.3	-	14	1914_1916	c.1592_1594delAAC	c.(1591-1596)caacca>cca	p.Q531del	IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000397574.2_5'Flank|CDHR5_ENST00000397542.2_In_Frame_Del_p.Q531del|IRF7_ENST00000330243.5_5'Flank|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	531					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGAGTGGCTGGTTGGTGGGAGGT	0.67																																																	0																																										SO:0001651	inframe_deletion	53841			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1592_1594delAAC	11.37:g.618965_618967delGTT	ENSP00000351118:p.Gln531del		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	In_Frame_Del	DEL	ENST00000358353.3	37	CCDS7707.1																																																																																				0.670	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2		NM_021924	
PSORS1C1	170679	broad.mit.edu;hgsc.bcm.edu	37	6	31088189	31088189	+	Intron	SNP	G	G	A	rs374928892		TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr6:31088189G>A	ENST00000259881.9	+	2	61				CDSN_ENST00000376288.2_Missense_Mutation_p.S3L	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1									p.S3L(1)		kidney(1)|ovary(2)|prostate(1)|skin(1)	5						TGCCCGAGACGAGCCCATCTC	0.657																																																	1	Substitution - Missense(1)	kidney(1)						G	LEU/SER,	1,4375		0,1,2187	33.0	27.0	29.0		8,	1.4	0.0	6		29	0,8580		0,0,4290	no	missense,intron	CDSN,PSORS1C1	NM_001264.4,NM_014068.2	145,	0,1,6477	AA,AG,GG		0.0,0.0229,0.0077	possibly-damaging,	3/530,	31088189	1,12955	2188	4290	6478	SO:0001627	intron_variant	1041			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-228-5264G>A	6.37:g.31088189G>A			B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	ENST00000259881.9	37	CCDS34390.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.544137	0.00142	2.29E-4	0.0	ENSG00000204539	ENST00000376288	T	0.06068	3.35	4.35	1.41	0.22369	.	0.437967	0.17025	N	0.189950	T	0.01976	0.0062	L	0.52573	1.65	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.42816	-0.9429	10	0.52906	T	0.07	-0.2847	6.2616	0.20903	0.2037:0.1525:0.6438:0.0	.	3	Q15517	CDSN_HUMAN	L	3	ENSP00000365465:S3L	ENSP00000365465:S3L	S	-	2	0	CDSN	31196168	0.993000	0.37304	0.033000	0.17914	0.005000	0.04900	1.106000	0.31098	-0.137000	0.11455	-2.341000	0.00245	TCG		0.657	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3		NM_014068	
CES1	1066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	55844874	55844874	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr16:55844874C>A	ENST00000361503.4	-	10	1262	c.1132G>T	c.(1132-1134)Gcc>Tcc	p.A378S	CES1_ENST00000360526.3_Missense_Mutation_p.A379S|CES1_ENST00000422046.2_Missense_Mutation_p.A377S			P23141	EST1_HUMAN	carboxylesterase 1	378					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.A379S(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	AGTGACATGGCTGTCTTCTGG	0.433																																					NSCLC(162;1801 2756 42904 52896)												1	Substitution - Missense(1)	kidney(1)											76.0	73.0	74.0					16																	55844874		2198	4300	6498	SO:0001583	missense	1066			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.1132G>T	16.37:g.55844874C>A	ENSP00000355193:p.Ala378Ser		A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	11.36	1.617232	0.28801	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.67345	-0.26;-0.26;-0.26	4.61	4.61	0.57282	Carboxylesterase, type B (1);	0.109630	0.40728	N	0.001022	T	0.74906	0.3778	M	0.78285	2.405	0.09310	N	0.999995	B;B;B	0.22080	0.064;0.064;0.052	B;B;B	0.42112	0.27;0.376;0.176	T	0.67749	-0.5590	10	0.39692	T	0.17	.	12.9788	0.58552	0.0:1.0:0.0:0.0	.	377;378;379	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	S	379;378;377;243	ENSP00000353720:A379S;ENSP00000355193:A378S;ENSP00000390492:A377S	ENSP00000353720:A379S	A	-	1	0	CES1	54402375	0.485000	0.25972	0.093000	0.20910	0.048000	0.14542	3.713000	0.54882	2.134000	0.65973	0.449000	0.29647	GCC		0.433	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1		NM_001266	
CFH	3075	broad.mit.edu;hgsc.bcm.edu	37	1	196642129	196642130	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr1:196642129_196642130GA>TT	ENST00000359637.2	+	2	142_143	c.80_81GA>TT	c.(79-81)aGA>aTT	p.R27I	CFH_ENST00000367429.4_Missense_Mutation_p.R27I|CFH_ENST00000496761.1_3'UTR|CFH_ENST00000439155.2_Missense_Mutation_p.R27I			P08603	CFAH_HUMAN	complement factor H	876	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.R27I(1)|p.R27S(1)|p.R27>?(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTTCCTCCAAGAAGAAATACAG	0.351																																																	3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	Exception_encountered	1.37:g.196642129_196642130delinsTT	ENSP00000352658:p.Arg27Ile		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37																																																																																					0.351	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1		NM_000186	
COMMD5	28991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	146076470	146076470	+	Missense_Mutation	SNP	A	A	T			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr8:146076470A>T	ENST00000305103.3	-	2	506	c.254T>A	c.(253-255)cTg>cAg	p.L85Q	COMMD5_ENST00000450361.2_Missense_Mutation_p.L85Q|AF235103.1_ENST00000578937.1_RNA|COMMD5_ENST00000402718.3_Missense_Mutation_p.L85Q	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	85						nucleus (GO:0005634)		p.L85Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GCCTGCCAGCAGGGCACCCAG	0.662																																																	1	Substitution - Missense(1)	kidney(1)											19.0	18.0	18.0					8																	146076470		2199	4296	6495	SO:0001583	missense	28991			AK023070	CCDS6436.1	8q24.3	2006-11-06				ENSG00000170619			17902	protein-coding gene	gene with protein product		608216				15799966, 10918053	Standard	NM_014066		Approved	HT002, FLJ13008, HCaRG	uc003zem.3	Q9GZQ3		ENST00000305103.3:c.254T>A	8.37:g.146076470A>T	ENSP00000304544:p.Leu85Gln		D3DWN7|Q9NVN6|Q9UHX5	Missense_Mutation	SNP	ENST00000305103.3	37	CCDS6436.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.646375	0.29246	.	.	ENSG00000170619	ENST00000402718;ENST00000450361;ENST00000305103;ENST00000529143;ENST00000533270	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	4.1	4.1	0.47936	.	0.272597	0.29034	N	0.013344	T	0.24353	0.0590	M	0.63843	1.955	0.09310	N	0.999991	D	0.53151	0.958	P	0.54210	0.745	T	0.04178	-1.0971	10	0.72032	D	0.01	.	9.6749	0.40034	1.0:0.0:0.0:0.0	.	85	Q9GZQ3	COMD5_HUMAN	Q	85	ENSP00000385793:L85Q;ENSP00000394331:L85Q;ENSP00000304544:L85Q;ENSP00000435552:L85Q;ENSP00000433758:L85Q	ENSP00000304544:L85Q	L	-	2	0	COMMD5	146047274	0.067000	0.21026	0.095000	0.20976	0.057000	0.15508	1.866000	0.39489	1.862000	0.54008	0.377000	0.23210	CTG		0.662	COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382962.1		NM_014066	
DDX50	79009	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	70706192	70706192	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr10:70706192T>C	ENST00000373585.3	+	15	2127	c.2020T>C	c.(2020-2022)Tct>Cct	p.S674P	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	674						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.S674P(1)		breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AAACACATCTTCTAATTCCAG	0.507																																																	1	Substitution - Missense(1)	kidney(1)											50.0	50.0	50.0					10																	70706192		2203	4300	6503	SO:0001583	missense	79009			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.2020T>C	10.37:g.70706192T>C	ENSP00000362687:p.Ser674Pro		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.769581	0.49680	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.20069	2.1	5.46	5.46	0.80206	.	0.487225	0.24361	N	0.039186	T	0.22666	0.0547	N	0.08118	0	0.37942	D	0.932365	D	0.54601	0.967	D	0.63033	0.91	T	0.22871	-1.0204	10	0.31617	T	0.26	-9.3815	12.217	0.54412	0.0:0.0:0.0:1.0	.	674	Q9BQ39	DDX50_HUMAN	P	674	ENSP00000362687:S674P	ENSP00000362687:S674P	S	+	1	0	DDX50	70376198	0.946000	0.32159	1.000000	0.80357	0.996000	0.88848	0.630000	0.24553	2.206000	0.71126	0.383000	0.25322	TCT		0.507	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1		NM_024045	
DMD	1756	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	32834668	32834668	+	Silent	SNP	A	A	G			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chrX:32834668A>G	ENST00000357033.4	-	6	653	c.447T>C	c.(445-447)cgT>cgC	p.R149R	DMD_ENST00000378677.2_Silent_p.R145R|DMD_ENST00000288447.4_Silent_p.R141R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	149	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R149R(1)|p.R145R(1)|p.R144R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTGGATAATTACGAGTTGATT	0.413																																																	3	Substitution - coding silent(3)	kidney(3)											165.0	142.0	149.0					X																	32834668		2202	4300	6502	SO:0001819	synonymous_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.447T>C	X.37:g.32834668A>G			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1																																																																																				0.413	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2		NM_004006	
ERBB3	2065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56487323	56487323	+	Missense_Mutation	SNP	G	G	A	rs149951770	byFrequency	TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr12:56487323G>A	ENST00000267101.3	+	12	1909	c.1469G>A	c.(1468-1470)cGc>cAc	p.R490H	ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.R431H|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	490					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.R490H(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AATCGGCCGCGCAGAGACTGC	0.567													G|||	2	0.000399361	0.0	0.0	5008	,	,		20134	0.0		0.002	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	54.0	54.0	54.0		1469	3.0	0.6	12	dbSNP_134	54	0,8600		0,0,4300	yes	missense	ERBB3	NM_001982.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	490/1343	56487323	2,13004	2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1469G>A	12.37:g.56487323G>A	ENSP00000267101:p.Arg490His		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.846	0.722972	0.15439	4.54E-4	0.0	ENSG00000065361	ENST00000267101;ENST00000415288	T;T	0.76968	-1.06;-1.05	5.06	3.02	0.34903	.	0.336739	0.21785	N	0.069147	T	0.56187	0.1968	L	0.27053	0.805	0.09310	N	0.999997	P;B	0.35656	0.514;0.433	B;B	0.25614	0.056;0.062	T	0.52124	-0.8617	10	0.51188	T	0.08	.	3.5145	0.07719	0.1653:0.0:0.4088:0.4259	.	490;490	B4DGQ7;P21860	.;ERBB3_HUMAN	H	490;431	ENSP00000267101:R490H;ENSP00000408340:R431H	ENSP00000267101:R490H	R	+	2	0	ERBB3	54773590	0.000000	0.05858	0.589000	0.28718	0.020000	0.10135	0.656000	0.24948	1.289000	0.44618	0.655000	0.94253	CGC		0.567	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			
ETV4	2118	broad.mit.edu	37	17	41610308	41610308	+	Splice_Site	SNP	C	C	T			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr17:41610308C>T	ENST00000319349.5	-	8	844		c.e8-1		ETV4_ENST00000393664.2_Splice_Site|ETV4_ENST00000591713.1_Splice_Site|ETV4_ENST00000545954.1_Splice_Site|ETV4_ENST00000586826.1_5'Flank|ETV4_ENST00000545089.1_Splice_Site|ETV4_ENST00000538265.1_Splice_Site	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4						branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	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 RNA polymerase II transcription factor activity (GO:0000981)	p.?(1)	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GAAGACGGAGCTGGATGTGGT	0.567			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)			Dom	yes		17	17q21	2118	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""		"""M, E"""	1	Unknown(1)	kidney(1)											37.0	44.0	42.0					17																	41610308		2167	4257	6424	SO:0001630	splice_region_variant	2118			U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.546-1G>A	17.37:g.41610308C>T			A8K314|B7Z5J3|B7Z9J6|Q96AW9	Splice_Site	SNP	ENST00000319349.5	37	CCDS11465.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367528	0.82463	.	.	ENSG00000175832	ENST00000319349;ENST00000393664;ENST00000538265;ENST00000545954;ENST00000545089	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.038	0.89311	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ETV4	38965834	.	.	1.000000	0.80357	0.992000	0.81027	.	.	2.698000	0.92095	0.561000	0.74099	.		0.567	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1		NM_001986	Intron
FAM170A	340069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	118970217	118970217	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr5:118970217C>A	ENST00000515256.1	+	3	946	c.774C>A	c.(772-774)caC>caA	p.H258Q				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	258					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H258Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TCAGCTGCCACGTCTTTCATC	0.552																																																	1	Substitution - Missense(1)	kidney(1)											135.0	141.0	139.0					5																	118970217		2066	4211	6277	SO:0001583	missense	340069			AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.774C>A	5.37:g.118970217C>A	ENSP00000422684:p.His258Gln		Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37		.	.	.	.	.	.	.	.	.	.	C	17.23	3.335521	0.60853	.	.	ENSG00000164334	ENST00000515256	T	0.31510	1.49	5.13	0.145	0.14829	.	0.092379	0.47852	N	0.000211	T	0.35451	0.0932	L	0.45137	1.4	0.28868	N	0.895122	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	T	0.19418	-1.0306	9	.	.	.	-10.5664	1.0654	0.01609	0.1595:0.4233:0.1549:0.2623	.	211;258	D6RIE9;A1A519	.;F170A_HUMAN	Q	258	ENSP00000422684:H258Q	.	H	+	3	2	FAM170A	118998116	0.127000	0.22367	0.997000	0.53966	0.961000	0.63080	-1.481000	0.02323	0.108000	0.17862	0.655000	0.94253	CAC		0.552	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1		NM_182761	
H2AFY2	55506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	71835428	71835428	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr10:71835428G>C	ENST00000373255.4	+	2	278	c.14G>C	c.(13-15)aGt>aCt	p.S5T		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	5	Histone H2A.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)	p.S5T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						TCGGGCCGGAGTGGGAAGAAG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											201.0	168.0	179.0					10																	71835428		2203	4300	6503	SO:0001583	missense	55506			AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.14G>C	10.37:g.71835428G>C	ENSP00000362352:p.Ser5Thr		Q5SQT2	Missense_Mutation	SNP	ENST00000373255.4	37	CCDS7296.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506120	0.64410	.	.	ENSG00000099284	ENST00000373255;ENST00000395046;ENST00000455786	T;D	0.84589	1.93;-1.87	6.06	4.21	0.49690	Histone-fold (1);Histone H2A (1);	0.095561	0.64402	N	0.000001	T	0.77003	0.4067	N	0.26092	0.79	0.47778	D	0.999516	B	0.11235	0.004	B	0.15870	0.014	T	0.71935	-0.4442	10	0.87932	D	0	.	11.9107	0.52737	0.0661:0.1228:0.8111:0.0	.	5	Q9P0M6	H2AW_HUMAN	T	5	ENSP00000362352:S5T;ENSP00000404584:S5T	ENSP00000362352:S5T	S	+	2	0	H2AFY2	71505434	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	7.884000	0.87274	0.892000	0.36259	-0.176000	0.13171	AGT		0.517	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2		NM_018649	
ITGA11	22801	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	68628034	68628034	+	Splice_Site	SNP	C	C	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr15:68628034C>A	ENST00000315757.7	-	12	1512		c.e12+1		ITGA11_ENST00000423218.2_Splice_Site	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11						cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CCCTCCATTACCTGCTGGCCC	0.637																																																	1	Unknown(1)	kidney(1)											25.0	30.0	28.0					15																	68628034		1999	4162	6161	SO:0001630	splice_region_variant	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1425+1G>T	15.37:g.68628034C>A			J3KQM2|Q8WYI8|Q9UKQ1	Splice_Site	SNP	ENST00000315757.7	37	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344965	0.82022	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491;ENST00000537153	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9796	0.92751	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGA11	66415088	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.748000	0.85085	2.723000	0.93209	0.655000	0.94253	.		0.637	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_012211	Intron
CAMSAP3	57662	broad.mit.edu;hgsc.bcm.edu	37	19	7677733	7677733	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr19:7677733G>T	ENST00000160298.4	+	11	2455	c.2354G>T	c.(2353-2355)cGg>cTg	p.R785L	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.R812L	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	785	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)	p.R812L(2)|p.R785L(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AAACACACGCGGCCAGCGGAG	0.736																																																	3	Substitution - Missense(3)	kidney(3)											7.0	9.0	9.0					19																	7677733		1855	3973	5828	SO:0001583	missense	0			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.2354G>T	19.37:g.7677733G>T	ENSP00000160298:p.Arg785Leu		Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	g	18.11	3.550854	0.65311	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.34275	1.38;1.37	5.21	5.21	0.72293	.	0.209146	0.43110	D	0.000611	T	0.61912	0.2385	M	0.76727	2.345	0.51767	D	0.999939	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65216	-0.6222	10	0.62326	D	0.03	-14.1274	17.5159	0.87773	0.0:0.0:1.0:0.0	.	785;812	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	L	812;785	ENSP00000416797:R812L;ENSP00000160298:R785L	ENSP00000160298:R785L	R	+	2	0	KIAA1543	7583733	1.000000	0.71417	0.945000	0.38365	0.145000	0.21501	4.206000	0.58473	2.436000	0.82500	0.551000	0.68910	CGG		0.736	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1		XM_048362	
KIF1C	10749	hgsc.bcm.edu	37	17	4926877	4926879	+	In_Frame_Del	DEL	TCG	TCG	-	rs549971892		TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	TCG	TCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr17:4926877_4926879delTCG	ENST00000320785.5	+	23	3100_3102	c.2743_2745delTCG	c.(2743-2745)tcgdel	p.S915del		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	915					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CCGGCCCCCCTCGCCACCACTGT	0.67																																					Melanoma(96;1023 1447 10250 19259 33730)												0																																										SO:0001651	inframe_deletion	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2743_2745delTCG	17.37:g.4926877_4926879delTCG	ENSP00000320821:p.Ser915del		D3DTL6|O75186|Q5U618	In_Frame_Del	DEL	ENST00000320785.5	37	CCDS11065.1																																																																																				0.670	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			
TSSC2	650368	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002									tumor suppressing subtransferable candidate 2 pseudogene																		AGCTTCACAGATCCACCGCTG	0.587																																																	0																																												650368					11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427885A>G				RNA	SNP	ENST00000529482.1	37																																																																																					0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																																	10	Substitution - Missense(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)											15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC7	4589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	71346715	71346715	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr4:71346715C>T	ENST00000304887.5	+	3	444	c.254C>T	c.(253-255)cCa>cTa	p.P85L	MUC7_ENST00000413702.1_Missense_Mutation_p.P85L|MUC7_ENST00000456088.1_Missense_Mutation_p.P85L|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	85					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P85L(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCCAAATTCCCAAATCCTCAC	0.458																																																	1	Substitution - Missense(1)	kidney(1)											108.0	108.0	108.0					4																	71346715		2203	4300	6503	SO:0001583	missense	4589			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.254C>T	4.37:g.71346715C>T	ENSP00000302021:p.Pro85Leu		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	9.947	1.219081	0.22373	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.57107	0.44;0.42;0.44;0.44	1.65	1.65	0.23941	.	.	.	.	.	T	0.47691	0.1459	N	0.24115	0.695	0.09310	N	1	P	0.50710	0.938	P	0.56216	0.794	T	0.28459	-1.0043	9	0.62326	D	0.03	.	5.2499	0.15517	0.3402:0.6598:0.0:0.0	.	85	Q8TAX7	MUC7_HUMAN	L	85	ENSP00000407422:P85L;ENSP00000427594:P85L;ENSP00000400585:P85L;ENSP00000302021:P85L	ENSP00000302021:P85L	P	+	2	0	MUC7	71381304	0.458000	0.25760	0.012000	0.15200	0.096000	0.18686	1.006000	0.29847	1.260000	0.44134	0.561000	0.74099	CCA		0.458	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2		NM_152291	
NCOA6	23054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33328813	33328813	+	Silent	SNP	C	C	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr20:33328813C>A	ENST00000374796.2	-	12	7817	c.5247G>T	c.(5245-5247)acG>acT	p.T1749T	NCOA6_ENST00000359003.2_Silent_p.T1749T			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1749	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.T1749T(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGGAGAAGACGTACAAGGAG	0.532																																																	1	Substitution - coding silent(1)	kidney(1)											85.0	87.0	86.0					20																	33328813		2203	4300	6503	SO:0001819	synonymous_variant	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5247G>T	20.37:g.33328813C>A			A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	CCDS13241.1																																																																																				0.532	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2		NM_014071	
PCDHA10	56139	broad.mit.edu;ucsc.edu	37	5	140236864	140236864	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr5:140236864G>T	ENST00000307360.5	+	1	1231	c.1231G>T	c.(1231-1233)Gct>Tct	p.A411S	PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A411S|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	411	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A411S(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACAGCGCTCTGGACCG	0.632																																																	2	Substitution - Missense(2)	kidney(2)											143.0	128.0	133.0					5																	140236864		2197	4274	6471	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1231G>T	5.37:g.140236864G>T	ENSP00000304234:p.Ala411Ser		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	1.551	-0.539153	0.04053	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.51817	4.23;0.69	3.96	0.881	0.19166	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.25306	0.0615	N	0.10837	0.055	0.09310	N	1	B;B;B	0.25390	0.103;0.125;0.098	B;B;B	0.28849	0.071;0.062;0.095	T	0.23511	-1.0186	9	0.30078	T	0.28	.	4.7926	0.13256	0.0887:0.3309:0.4542:0.1261	.	411;411;411	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	S	411	ENSP00000421030:A411S;ENSP00000304234:A411S	ENSP00000304234:A411S	A	+	1	0	PCDHA10	140217048	0.000000	0.05858	0.816000	0.32577	0.102000	0.19082	-2.936000	0.00685	0.439000	0.26476	-0.314000	0.08810	GCT		0.632	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2		NM_018901	
PHLPP1	23239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	60497298	60497298	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr18:60497298G>A	ENST00000262719.5	+	2	1841	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q	PHLPP1_ENST00000400316.4_Missense_Mutation_p.R24Q			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	536	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.R536Q(2)|p.R23Q(1)		endometrium(2)|kidney(2)|lung(13)	17						AGCTCTGAACGGATTCAGCTC	0.448																																																	3	Substitution - Missense(3)	kidney(3)											81.0	76.0	78.0					18																	60497298		1953	4154	6107	SO:0001583	missense	23239			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.1607G>A	18.37:g.60497298G>A	ENSP00000262719:p.Arg536Gln		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	37	5.997339	0.97184	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.34667	1.35;1.35	5.08	5.08	0.68730	Pleckstrin homology domain (1);	.	.	.	.	T	0.56949	0.2020	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.50482	-0.8823	9	0.33141	T	0.24	-18.6612	18.6526	0.91435	0.0:0.0:1.0:0.0	.	536	O60346	PHLP1_HUMAN	Q	24;536	ENSP00000383170:R24Q;ENSP00000262719:R536Q	ENSP00000262719:R536Q	R	+	2	0	PHLPP1	58648278	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.263000	0.95617	2.637000	0.89404	0.555000	0.69702	CGG		0.448	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2		NM_194449	
PTGS2	5743	broad.mit.edu;hgsc.bcm.edu	37	1	186646956	186646956	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr1:186646956T>G	ENST00000367468.5	-	5	600	c.464A>C	c.(463-465)aAg>aCg	p.K155T	RP5-973M2.2_ENST00000608917.1_lincRNA|PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	155					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.K155T(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	AGGAAGCTGCTTTTTACCTGA	0.368																																																	2	Substitution - Missense(2)	kidney(2)											69.0	70.0	70.0					1																	186646956		2203	4300	6503	SO:0001583	missense	5743			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.464A>C	1.37:g.186646956T>G	ENSP00000356438:p.Lys155Thr		A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.547498	0.65311	.	.	ENSG00000073756	ENST00000367468	T	0.68903	-0.36	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	M	0.79475	2.455	0.58432	D	0.999999	B	0.23990	0.095	B	0.37346	0.247	T	0.74553	-0.3627	10	0.66056	D	0.02	-26.911	15.9117	0.79477	0.0:0.0:0.0:1.0	.	155	P35354	PGH2_HUMAN	T	155	ENSP00000356438:K155T	ENSP00000356438:K155T	K	-	2	0	PTGS2	184913579	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.999000	0.70665	2.156000	0.67533	0.528000	0.53228	AAG		0.368	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2		NM_000963	
QSER1	79832	hgsc.bcm.edu;ucsc.edu	37	11	32954712	32954712	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr11:32954712delA	ENST00000399302.2	+	4	1856	c.1521delA	c.(1519-1521)tcafs	p.S509fs	QSER1_ENST00000527788.1_Frame_Shift_Del_p.S270fs	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	509	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTCAAGAGTCATCATCTCCCC	0.433																																																	0													106.0	102.0	103.0					11																	32954712		1881	4100	5981	SO:0001589	frameshift_variant	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.1521delA	11.37:g.32954712delA	ENSP00000382241:p.Ser509fs		Q6ZU30|Q6ZUR5	Frame_Shift_Del	DEL	ENST00000399302.2	37	CCDS41631.1																																																																																				0.433	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1		NM_024774	
RTKN2	219790	broad.mit.edu;hgsc.bcm.edu	37	10	63999439	63999440	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr10:63999439_63999440GA>TT	ENST00000373789.3	-	5	551_552	c.455_456TC>AA	c.(454-456)aTC>aAA	p.I152K	RTKN2_ENST00000395260.3_Missense_Mutation_p.I152K|RTKN2_ENST00000395265.1_Missense_Mutation_p.I152K	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	152					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.I152I(1)|p.I152>?(1)|p.I152N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					ATATATCTGTGATTGTTTTATC	0.272																																																	3	Substitution - Missense(1)|Substitution - coding silent(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	219790			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.455_456delinsTT	10.37:g.63999439_63999440delinsTT	ENSP00000362894:p.Ile152Lys		Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent|Missense_Mutation	SNP	ENST00000373789.3	37	CCDS7263.1																																																																																				0.272	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1		NM_145307	
RUNX3	864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	25256117	25256117	+	Silent	SNP	C	C	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr1:25256117C>A	ENST00000308873.6	-	1	251	c.243G>T	c.(241-243)tcG>tcT	p.S81S	RUNX3_ENST00000496967.1_5'Flank|RUNX3_ENST00000540420.1_5'Flank|RUNX3_ENST00000338888.3_Silent_p.S95S|RUNX3_ENST00000399916.1_Silent_p.S95S	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	81	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S95S(1)|p.S81S(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		AGCGCCAGTGCGAGGGCAGCA	0.736																																																	2	Substitution - coding silent(2)	kidney(2)											34.0	30.0	31.0					1																	25256117		2201	4298	6499	SO:0001819	synonymous_variant	864			BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.243G>T	1.37:g.25256117C>A			B1AJV5|Q12969|Q13760	Silent	SNP	ENST00000308873.6	37	CCDS257.1																																																																																				0.736	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1		NM_004350	
SEC23B	10483	hgsc.bcm.edu;ucsc.edu	37	20	18492907	18492908	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr20:18492907_18492908delTC	ENST00000336714.3	+	3	692_693	c.260_261delTC	c.(259-261)ttcfs	p.F87fs	SEC23B_ENST00000494645.1_3'UTR|SEC23B_ENST00000377465.1_Frame_Shift_Del_p.F87fs|SEC23B_ENST00000262544.2_Frame_Shift_Del_p.F87fs|SEC23B_ENST00000377475.3_Frame_Shift_Del_p.F87fs	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	87					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GCCTGTAATTTCTGTTTTCAAA	0.228																																																	0																																										SO:0001589	frameshift_variant	10483			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.260_261delTC	20.37:g.18492907_18492908delTC	ENSP00000338844:p.Phe87fs		D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Frame_Shift_Del	DEL	ENST00000336714.3	37	CCDS13137.1																																																																																				0.228	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47129722	47129722	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr3:47129722C>A	ENST00000409792.3	-	10	5200	c.5158G>T	c.(5158-5160)Gaa>Taa	p.E1720*	snoU13_ENST00000516129.1_RNA	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1720					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.E1217*(1)|p.E1720*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCAGAGCTTCTAGCTCTCCA	0.373			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	kidney(2)											97.0	101.0	100.0					3																	47129722		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5158G>T	3.37:g.47129722C>A	ENSP00000386759:p.Glu1720*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	44	11.105493	0.99516	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	4.46	4.46	0.54185	.	0.000000	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	17.6746	0.88227	0.0:1.0:0.0:0.0	.	.	.	.	X	1720	.	ENSP00000386759:E1720X	E	-	1	0	SETD2	47104726	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.278000	0.78587	2.464000	0.83262	0.650000	0.86243	GAA		0.373	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
TAS2R60	338398	broad.mit.edu;ucsc.edu	37	7	143140757	143140757	+	Nonsense_Mutation	SNP	C	C	G			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr7:143140757C>G	ENST00000332690.1	+	1	212	c.212C>G	c.(211-213)tCa>tGa	p.S71*	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	71					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S71*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TGTCTGCAGTCAGTGGTAATG	0.493																																																	1	Substitution - Nonsense(1)	kidney(1)											174.0	162.0	166.0					7																	143140757		2203	4300	6503	SO:0001587	stop_gained	338398			AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.212C>G	7.37:g.143140757C>G	ENSP00000327724:p.Ser71*		A4D2G8|Q645W8|Q7RTR7	Nonsense_Mutation	SNP	ENST00000332690.1	37	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900878	0.33535	.	.	ENSG00000185899	ENST00000332690	.	.	.	5.68	3.78	0.43462	.	0.499250	0.16839	U	0.197419	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	8.7673	0.34711	0.0:0.1654:0.6645:0.1701	.	.	.	.	X	71	.	ENSP00000327724:S71X	S	+	2	0	TAS2R60	142850879	0.166000	0.22962	0.034000	0.17996	0.014000	0.08584	1.652000	0.37313	1.422000	0.47177	-0.128000	0.14901	TCA		0.493	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			
THSD7B	80731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	138414712	138414712	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr2:138414712G>T	ENST00000409968.1	+	24	4535	c.4357G>T	c.(4357-4359)Gat>Tat	p.D1453Y	THSD7B_ENST00000543459.1_Missense_Mutation_p.Q287H|THSD7B_ENST00000272643.3_Missense_Mutation_p.D1456Y|THSD7B_ENST00000413152.2_Missense_Mutation_p.D1425Y			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1455						integral component of membrane (GO:0016021)		p.D1456Y(2)|p.D1425Y(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCAGCGTTCAGATGGCGTTAA	0.403																																																	3	Substitution - Missense(3)	kidney(2)|lung(1)											109.0	106.0	107.0					2																	138414712		1946	4152	6098	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4357G>T	2.37:g.138414712G>T	ENSP00000387145:p.Asp1453Tyr			Missense_Mutation	SNP	ENST00000409968.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.19|14.19	2.460551|2.460551	0.43736|0.43736	.|.	.|.	ENSG00000144229|ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152|ENST00000543459	T;T;T|T	0.37915|0.24151	1.67;1.55;1.17|1.87	6.13|6.13	6.13|6.13	0.99165|0.99165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45034|0.45034	0.1322|0.1322	M|M	0.72118|0.72118	2.19|2.19	0.39585|0.39585	D|D	0.969491|0.969491	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.10613|0.10613	-1.0622|-1.0622	10|7	0.62326|0.12103	D|T	0.03|0.63	.|.	20.8599|20.8599	0.99761|0.99761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1425|.	C9JKN6|.	.|.	Y|H	1453;1456;1425|287	ENSP00000387145:D1453Y;ENSP00000272643:D1456Y;ENSP00000413841:D1425Y|ENSP00000443370:Q287H	ENSP00000272643:D1456Y|ENSP00000443370:Q287H	D|Q	+|+	1|3	0|2	THSD7B|THSD7B	138131182|138131182	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.472000|9.472000	0.97709|0.97709	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAT|CAG		0.403	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2		XM_046570.9	
TM4SF19	116211	broad.mit.edu;ucsc.edu	37	3	196053866	196053866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr3:196053866C>T	ENST00000273695.3	-	3	364	c.239G>A	c.(238-240)tGg>tAg	p.W80*	TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19_ENST00000446879.1_Nonsense_Mutation_p.W80*|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000442633.1_Nonsense_Mutation_p.W80*|TM4SF19_ENST00000454715.1_Intron	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	80						integral component of membrane (GO:0016021)		p.W80*(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GCCGTATCTCCAGCCCATCAA	0.502																																																	1	Substitution - Nonsense(1)	kidney(1)											88.0	82.0	84.0					3																	196053866		2203	4300	6503	SO:0001587	stop_gained	116211			BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.239G>A	3.37:g.196053866C>T	ENSP00000273695:p.Trp80*		B2RV20|E9PH22|Q336K7	Nonsense_Mutation	SNP	ENST00000273695.3	37	CCDS3316.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496535	0.85069	.	.	ENSG00000145107	ENST00000446879;ENST00000273695	.	.	.	5.37	5.37	0.77165	.	0.509728	0.19796	N	0.105874	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-7.1405	14.6173	0.68558	0.0:1.0:0.0:0.0	.	.	.	.	X	80	.	ENSP00000273695:W80X	W	-	2	0	TM4SF19	197538263	1.000000	0.71417	0.985000	0.45067	0.602000	0.36980	3.565000	0.53798	2.528000	0.85240	0.655000	0.94253	TGG		0.502	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341174.1		NM_138461	
TREML4	285852	hgsc.bcm.edu;ucsc.edu	37	6	41196691	41196691	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr6:41196691delG	ENST00000341495.2	+	2	407	c.303delG	c.(301-303)cagfs	p.Q101fs	TREML4_ENST00000448827.2_Frame_Shift_Del_p.Q101fs	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	101	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					AGCTGACACAGAATGACTCGG	0.483																																																	0													90.0	85.0	87.0					6																	41196691		2203	4300	6503	SO:0001589	frameshift_variant	285852			AF534826	CCDS34446.1	6p21.1	2013-01-11			ENSG00000188056	ENSG00000188056		"""Immunoglobulin superfamily / V-set domain containing"""	30807	protein-coding gene	gene with protein product	"""TREM like transcript 4"""	614664				12645956	Standard	NM_198153		Approved	TLT4	uc003oqc.3	Q6UXN2	OTTHUMG00000016408	ENST00000341495.2:c.303delG	6.37:g.41196691delG	ENSP00000342570:p.Gln101fs		B7ZL92	Frame_Shift_Del	DEL	ENST00000341495.2	37	CCDS34446.1																																																																																				0.483	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043873.2			
LINC01347	731275	broad.mit.edu	37	1	243251423	243251423	+	lincRNA	DEL	A	A	-	rs200578702	byFrequency	TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr1:243251423delA	ENST00000417964.1	-	0	1346																											actccatctcaaaaaaaaaaa	0.458													|||unknown(NO_COVERAGE)	1468	0.293131	0.3033	0.3098	5008	,	,		13610	0.3333		0.2396	False		,,,				2504	0.2812																0																																												0																															1.37:g.243251423delA				RNA	DEL	ENST00000417964.1	37																																																																																					0.458	RP11-261C10.3-006	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000096168.1			
CFAP44	55779	hgsc.bcm.edu;ucsc.edu	37	3	113098217	113098217	+	Missense_Mutation	SNP	G	G	A	rs58988763	byFrequency	TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr3:113098217G>A	ENST00000295868.2	-	17	2396	c.2234C>T	c.(2233-2235)cCg>cTg	p.P745L	WDR52_ENST00000393845.2_Missense_Mutation_p.P745L|WDR52_ENST00000475568.1_5'Flank	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GGGGGTTGACGGAATAAATAT	0.428													.|||	227	0.0453275	0.0023	0.0159	5008	,	,		13431	0.1062		0.0398	False		,,,				2504	0.0675																0								G	LEU/PRO,LEU/PRO	29,4377	35.2+/-66.4	0,29,2174	81.0	80.0	80.0		2234,2234	5.4	0.3	3	dbSNP_129	80	313,8287	112.3+/-172.5	6,301,3993	yes	missense,missense	WDR52	NM_001164496.1,NM_018338.3	98,98	6,330,6167	AA,AG,GG		3.6395,0.6582,2.6296	probably-damaging,probably-damaging	745/1855,745/983	113098217	342,12664	2203	4300	6503	SO:0001583	missense	55779																														ENST00000295868.2:c.2234C>T	3.37:g.113098217G>A	ENSP00000295868:p.Pro745Leu			Missense_Mutation	SNP	ENST00000295868.2	37	CCDS2972.1	91	0.041666666666666664	1	0.0020325203252032522	7	0.019337016574585635	53	0.09265734265734266	30	0.0395778364116095	G	16.74	3.207429	0.58343	0.006582	0.036395	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.18174	2.23;2.23	5.42	5.42	0.78866	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.02380	0.0073	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00180	-1.1949	9	0.87932	D	0	.	19.0063	0.92852	0.0:0.0:1.0:0.0	rs58988763	745	Q96MT7	WDR52_HUMAN	L	745	ENSP00000377428:P745L;ENSP00000295868:P745L	ENSP00000295868:P745L	P	-	2	0	WDR52	114580907	1.000000	0.71417	0.291000	0.24904	0.112000	0.19704	6.997000	0.76270	2.826000	0.97356	0.563000	0.77884	CCG		0.428	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			
XKR6	286046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	11058309	11058309	+	Silent	SNP	G	G	A			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr8:11058309G>A	ENST00000416569.2	-	1	566	c.540C>T	c.(538-540)agC>agT	p.S180S	XKR6_ENST00000297303.4_Silent_p.S180S|AF131215.8_ENST00000602443.1_lincRNA	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	180						integral component of membrane (GO:0016021)		p.S180S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		ACCAGCGGAAGCTCAGGCTCT	0.692																																																	1	Substitution - coding silent(1)	kidney(1)											31.0	31.0	31.0					8																	11058309		2065	4070	6135	SO:0001819	synonymous_variant	286046			BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.540C>T	8.37:g.11058309G>A			Q8TBA0	Silent	SNP	ENST00000416569.2	37	CCDS5978.2																																																																																				0.692	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1		NM_173683	
ZNF594	84622	hgsc.bcm.edu	37	17	5085789	5085790	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr17:5085789_5085790insCC	ENST00000399604.4	-	1	1902_1903	c.1762_1763insGG	c.(1762-1764)gtafs	p.V588fs	ZNF594_ENST00000575779.1_Frame_Shift_Ins_p.V588fs			Q96JF6	ZN594_HUMAN	zinc finger protein 594	588					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)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGTATGAGTTACCTGATGTCTG	0.441																																																	0																																										SO:0001589	frameshift_variant	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1761_1762dupGG	17.37:g.5085790_5085791dupCC	ENSP00000382513:p.Val588fs		Q6RFS0	Frame_Shift_Ins	INS	ENST00000399604.4	37	CCDS42241.1																																																																																				0.441	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1		XM_290737	
ZXDA	7789	hgsc.bcm.edu;ucsc.edu	37	X	57935826	57935828	+	In_Frame_Del	DEL	GGT	GGT	-	rs150800705	byFrequency	TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	GGT	GGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chrX:57935826_57935828delGGT	ENST00000358697.4	-	1	1239_1241	c.1027_1029delACC	c.(1027-1029)accdel	p.T343del		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	343	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GGTTGTACACGGTGGTGAAGCTC	0.596																																																	0																																										SO:0001651	inframe_deletion	7789			L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1027_1029delACC	X.37:g.57935829_57935831delGGT	ENSP00000351530:p.Thr343del		Q9UJP7	In_Frame_Del	DEL	ENST00000358697.4	37	CCDS14376.1																																																																																				0.596	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1		NM_007156	
ZZEF1	23140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3920721	3920721	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr17:3920721T>G	ENST00000381638.2	-	48	8069	c.7945A>C	c.(7945-7947)Atg>Ctg	p.M2649L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2649							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.M2649L(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATGTAGGTCATATGGGCAGGG	0.562																																																	1	Substitution - Missense(1)	kidney(1)											64.0	58.0	60.0					17																	3920721		2203	4300	6503	SO:0001583	missense	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7945A>C	17.37:g.3920721T>G	ENSP00000371051:p.Met2649Leu		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.795216	0.50208	.	.	ENSG00000074755	ENST00000381638	T	0.17854	2.25	5.44	5.44	0.79542	.	0.040415	0.85682	D	0.000000	T	0.11110	0.0271	N	0.17082	0.46	0.58432	D	0.999994	B	0.24258	0.1	B	0.13407	0.009	T	0.17228	-1.0376	10	0.15499	T	0.54	-21.6053	15.7898	0.78345	0.0:0.0:0.0:1.0	.	2649	O43149	ZZEF1_HUMAN	L	2649	ENSP00000371051:M2649L	ENSP00000371051:M2649L	M	-	1	0	ZZEF1	3867470	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.590000	0.82653	2.187000	0.69744	0.528000	0.53228	ATG		0.562	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113	
TMPRSS13	84000	broad.mit.edu	37	11	117785150	117785150	+	Silent	SNP	G	G	A	rs376048907		TCGA-B2-4101-01A-02D-1458-08	TCGA-B2-4101-11A-01D-1458-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	09bfe7ac-7667-4a3e-aedd-b621f55fb635	c6972bea-cb24-44f1-a9fc-16a34fef03c9	g.chr11:117785150G>A	ENST00000430170.2	-	4	723	c.636C>T	c.(634-636)gaC>gaT	p.D212D	TMPRSS13_ENST00000526090.1_Silent_p.D212D|TMPRSS13_ENST00000528626.1_Silent_p.D177D|TMPRSS13_ENST00000524993.1_Silent_p.D212D|TMPRSS13_ENST00000445164.2_Silent_p.D212D	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	212	LDL-receptor class A.|SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.D212D(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CCACCACCCCGTCACAGCGAA	0.597																																						.											1	Substitution - coding silent(1)	kidney(1)						G	,,	0,4378		0,0,2189	215.0	238.0	230.0		636,531,636	-3.0	1.0	11		230	1,8543	1.2+/-3.3	0,1,4271	no	coding-synonymous,coding-synonymous,coding-synonymous	TMPRSS13	NM_001077263.2,NM_001206789.1,NM_001206790.1	,,	0,1,6460	AA,AG,GG		0.0117,0.0,0.0077	,,	212/568,177/533,212/492	117785150	1,12921	2189	4272	6461	SO:0001819	synonymous_variant	84000			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.636C>T	11.37:g.117785150G>A			B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000430170.2	37	CCDS58185.1																																																																																				0.597	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1		NM_032046	
