#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABCC9	10060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21960403	21960403	+	Silent	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr12:21960403G>A	ENST00000261201.4	-	36	4325	c.4326C>T	c.(4324-4326)gtC>gtT	p.V1442V	ABCC9_ENST00000345162.2_Silent_p.V1406V|ABCC9_ENST00000261200.4_Silent_p.V1442V	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1442	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.V1442V(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CACCTTCAGTGACAACCGCAT	0.398																																																	2	Substitution - coding silent(2)	kidney(2)											105.0	95.0	98.0					12																	21960403		2203	4300	6503	SO:0001819	synonymous_variant	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4326C>T	12.37:g.21960403G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O60707	Silent	SNP	ENST00000261201.4	37	CCDS8694.1																																																																																				0.398	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1		NM_005691	
AKNAD1	254268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	109366227	109366227	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr1:109366227G>A	ENST00000370001.3	-	12	2288	c.2020C>T	c.(2020-2022)Cct>Tct	p.P674S	AKNAD1_ENST00000369994.1_Missense_Mutation_p.P644S|AKNAD1_ENST00000357393.4_Missense_Mutation_p.P381S|AKNAD1_ENST00000369995.3_Missense_Mutation_p.P674S	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	674						cytoplasm (GO:0005737)		p.P674S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						CGGGAGGTAGGAATCTTAGTG	0.483																																																	1	Substitution - Missense(1)	kidney(1)											136.0	116.0	123.0					1																	109366227		2203	4300	6503	SO:0001583	missense	254268			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.2020C>T	1.37:g.109366227G>A	ENSP00000359018:p.Pro674Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	CCDS791.2	.	.	.	.	.	.	.	.	.	.	G	9.593	1.126765	0.20959	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.78	2.67	0.31697	.	1.887340	0.02837	N	0.127520	T	0.04272	0.0118	N	0.19112	0.55	0.09310	N	1	B;B	0.15141	0.012;0.004	B;B	0.11329	0.004;0.006	T	0.31888	-0.9927	10	0.44086	T	0.13	3.3312	7.429	0.27115	0.2186:0.0:0.7814:0.0	.	381;674	B4DET8;Q5T1N1	.;AKND1_HUMAN	S	674;381;644;674	ENSP00000359018:P674S;ENSP00000349968:P381S;ENSP00000359011:P644S;ENSP00000359012:P674S	ENSP00000349968:P381S	P	-	1	0	AKNAD1	109167750	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.248000	0.18198	0.501000	0.28013	0.561000	0.74099	CCT		0.483	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2		NM_152763	
ARIH1	25820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	72848195	72848195	+	Silent	SNP	T	T	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr15:72848195T>C	ENST00000379887.4	+	5	998	c.684T>C	c.(682-684)acT>acC	p.T228T		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	228	Interaction with UBE2L3.				cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T228T(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TTTTTCAGACTATTTCGTGTC	0.343																																																	1	Substitution - coding silent(1)	kidney(1)											243.0	215.0	224.0					15																	72848195		2197	4296	6493	SO:0001819	synonymous_variant	25820			AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"""ariadne, Drosophila, homolog of"""	605624	"""ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1"", ""ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"""			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.684T>C	15.37:g.72848195T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Silent	SNP	ENST00000379887.4	37	CCDS10244.1																																																																																				0.343	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1		NM_005744	
ATP1A3	478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42482093	42482093	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr19:42482093G>C	ENST00000302102.5	-	14	2088	c.1938C>G	c.(1936-1938)aaC>aaG	p.N646K	ATP1A3_ENST00000545399.1_Missense_Mutation_p.N659K|ATP1A3_ENST00000543770.1_Missense_Mutation_p.N657K|ATP1A3_ENST00000602133.1_Missense_Mutation_p.N616K	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	646					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.N646K(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CTCACCGGGGGTTAACCTGGC	0.647																																																	1	Substitution - Missense(1)	kidney(1)											116.0	108.0	111.0					19																	42482093		2203	4300	6503	SO:0001583	missense	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1938C>G	19.37:g.42482093G>C	ENSP00000302397:p.Asn646Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401149	0.83120	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.94650	-3.37;-3.48;-3.38;-3.38	4.44	3.41	0.39046	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90222	0.6943	N	0.02751	-0.505	0.80722	D	1	B;B;P;B	0.37330	0.016;0.382;0.59;0.303	B;B;P;P	0.53760	0.12;0.434;0.734;0.569	D	0.89995	0.4110	10	0.66056	D	0.02	.	10.2182	0.43182	0.0997:0.0:0.9002:0.0	.	659;657;646;646	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	K	646;646;659;616;390;657	ENSP00000302397:N646K;ENSP00000411503:N646K;ENSP00000444688:N659K;ENSP00000437577:N657K	ENSP00000302397:N646K	N	-	3	2	ATP1A3	47173933	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.522000	0.73783	2.478000	0.83669	0.561000	0.74099	AAC		0.647	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1		NM_152296	
ATXN7	6314	hgsc.bcm.edu;ucsc.edu	37	3	63973813	63973813	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr3:63973813delA	ENST00000295900.6	+	9	1724	c.1174delA	c.(1174-1176)aaafs	p.K392fs	ATXN7_ENST00000398590.3_Frame_Shift_Del_p.K392fs|ATXN7_ENST00000484332.1_Frame_Shift_Del_p.K247fs|ATXN7_ENST00000538065.1_Frame_Shift_Del_p.K392fs|ATXN7_ENST00000487717.1_Frame_Shift_Del_p.K392fs	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	392	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GCACAAAAACAAAACCAGGGA	0.517																																																	0													158.0	170.0	166.0					3																	63973813		1952	4141	6093	SO:0001589	frameshift_variant	6314			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1174delA	3.37:g.63973813delA	ENSP00000295900:p.Lys392fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Frame_Shift_Del	DEL	ENST00000295900.6	37	CCDS43102.1																																																																																				0.517	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1		NM_000333	
PHF7	51533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52443866	52443866	+	5'Flank	SNP	C	C	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr3:52443866C>G	ENST00000327906.3	+	0	0				BAP1_ENST00000296288.5_Missense_Mutation_p.S10T|BAP1_ENST00000460680.1_Missense_Mutation_p.S10T|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.S10T(1)|p.E7_S10delELES(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		ACCTGGGTCGCTCTCCAGCTC	0.746																																																	2	Substitution - Missense(1)|Deletion - In frame(1)	kidney(2)											24.0	30.0	28.0					3																	52443866		2203	4298	6501	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443866C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	C	33	5.240770	0.95240	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.62232	0.04;0.04	4.93	4.93	0.64822	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (4);	0.000000	0.85682	D	0.000000	D	0.85948	0.5816	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90874	0.4748	10	0.87932	D	0	-4.1481	15.9287	0.79644	0.0:1.0:0.0:0.0	.	10	Q92560	BAP1_HUMAN	T	10	ENSP00000417132:S10T;ENSP00000296288:S10T	ENSP00000296288:S10T	S	-	2	0	BAP1	52418906	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.832000	0.62759	2.289000	0.77006	0.561000	0.74099	AGC		0.746	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		NM_016483	
BTNL2	56244	hgsc.bcm.edu	37	6	32370970	32370970	+	Frame_Shift_Del	DEL	G	G	-	rs370253771|rs60740710	byFrequency	TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr6:32370970delG	ENST00000374993.1	-	3	450	c.451delC	c.(451-453)cacfs	p.H151fs	BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000454136.3_Frame_Shift_Del_p.H151fs|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000540315.1_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	151	Ig-like V-type 2.					integral component of membrane (GO:0016021)		p.H151fs*96(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCCTCCATGTGGATGCTAGGG	0.602													GG|GG|G|deletion	672	0.134185	0.1369	0.1369	5008	,	,		18467	0.1984		0.0974	False		,,,				2504	0.1002																1	Deletion - Frameshift(1)	kidney(1)								408,3086		47,314,1386	22.0	22.0	22.0			3.5	0.9	6	dbSNP_129	24	520,6118		63,394,2862	yes	frameshift	BTNL2	NM_019602.1		110,708,4248	A1A1,A1R,RR		7.8337,11.6772,9.1591			32370970	928,9204	1502	2696	4198	SO:0001589	frameshift_variant	56244			AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.451delC	6.37:g.32370970delG	ENSP00000364132:p.His151fs	Somatic		WXS	Illumina HiSeq	Phase_I	A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Frame_Shift_Del	DEL	ENST00000374993.1	37																																																																																					0.602	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_019602	
MLIP	90523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	54095578	54095578	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr6:54095578G>T	ENST00000274897.5	+	11	1293	c.1180G>T	c.(1180-1182)Gct>Tct	p.A394S	MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.A929S|MLIP_ENST00000370877.2_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	394						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.A394S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CTATCCTCCTGCTAAGTCACT	0.498																																																	1	Substitution - Missense(1)	kidney(1)											312.0	284.0	293.0					6																	54095578		2203	4300	6503	SO:0001583	missense	0			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1180G>T	6.37:g.54095578G>T	ENSP00000274897:p.Ala394Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132944	0.77662	.	.	ENSG00000146147	ENST00000274897;ENST00000502396;ENST00000514433	T;T;T	0.23147	2.25;1.92;1.93	5.59	5.59	0.84812	.	0.335168	0.24485	N	0.038103	T	0.29945	0.0749	L	0.44542	1.39	0.80722	D	1	D;D	0.60160	0.987;0.974	P;P	0.61328	0.887;0.754	T	0.00885	-1.1527	10	0.41790	T	0.15	.	15.1015	0.72279	0.0:0.0:1.0:0.0	.	929;394	Q5VWP3-3;Q5VWP3	.;MLIP_HUMAN	S	394;929;323	ENSP00000274897:A394S;ENSP00000426290:A929S;ENSP00000421444:A323S	ENSP00000274897:A394S	A	+	1	0	MLIP	54203537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.868000	0.56055	2.622000	0.88805	0.650000	0.86243	GCT		0.498	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3		NM_138569	
C9orf114	51490	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131586388	131586388	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr9:131586388C>A	ENST00000361256.5	-	10	917	c.877G>T	c.(877-879)Ggc>Tgc	p.G293C		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	293							poly(A) RNA binding (GO:0044822)	p.G293C(1)		kidney(2)|large_intestine(4)|ovary(1)	7						ACATCTGAGCCGCGCTCTGAC	0.647																																																	1	Substitution - Missense(1)	kidney(1)											43.0	39.0	40.0					9																	131586388		2203	4300	6503	SO:0001583	missense	51490				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"""centromere protein 32"""					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.877G>T	9.37:g.131586388C>A	ENSP00000354812:p.Gly293Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Missense_Mutation	SNP	ENST00000361256.5	37	CCDS6913.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.714009	0.68730	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	T	0.39997	1.05	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.73923	0.3649	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78560	-0.2157	10	0.87932	D	0	-7.8325	19.5674	0.95401	0.0:1.0:0.0:0.0	.	292;293	E7ESY7;Q5T280	.;CI114_HUMAN	C	293;292	ENSP00000354812:G293C	ENSP00000354812:G293C	G	-	1	0	C9orf114	130626209	1.000000	0.71417	0.982000	0.44146	0.072000	0.16883	7.157000	0.77461	2.873000	0.98535	0.561000	0.74099	GGC		0.647	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1		NM_016390	
CACNG5	27091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	64875148	64875148	+	Silent	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr17:64875148G>A	ENST00000533854.1	+	3	492	c.255G>A	c.(253-255)ctG>ctA	p.L85L	CACNG5_ENST00000307139.3_Silent_p.L85L|CACNG5_ENST00000169565.3_Silent_p.L85L			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	85					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)	p.L85L(2)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			ACACCCAGCTGACATCCGAGT	0.532																																																	2	Substitution - coding silent(2)	kidney(2)											128.0	109.0	115.0					17																	64875148		2203	4300	6503	SO:0001819	synonymous_variant	27091			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.255G>A	17.37:g.64875148G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Silent	SNP	ENST00000533854.1	37	CCDS11665.1																																																																																				0.532	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1		NM_014404, NM_145811	
CASZ1	54897	hgsc.bcm.edu	37	1	10718609	10718610	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr1:10718609_10718610insG	ENST00000377022.3	-	7	1681_1682	c.1364_1365insC	c.(1363-1365)ccafs	p.P455fs	CASZ1_ENST00000344008.5_Frame_Shift_Ins_p.P455fs|CASZ1_ENST00000478728.2_5'Flank	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	455					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CAGTGACGGCTGGTTTATCTGT	0.594																																																	0																																										SO:0001589	frameshift_variant	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1365dupC	1.37:g.10718611_10718611dupG	ENSP00000366221:p.Pro455fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Ins	INS	ENST00000377022.3	37	CCDS41246.1																																																																																				0.594	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2		NM_017766	
CCNB2	9133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	59406998	59406998	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr15:59406998G>A	ENST00000288207.2	+	5	711	c.520G>A	c.(520-522)Gta>Ata	p.V174I	CCNB2_ENST00000559622.1_Missense_Mutation_p.V93I	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	174					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.V174I(1)		kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						GGATTGGCTGGTACAAGTCCA	0.458																																																	1	Substitution - Missense(1)	kidney(1)											195.0	183.0	187.0					15																	59406998		2191	4291	6482	SO:0001583	missense	9133			AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.520G>A	15.37:g.59406998G>A	ENSP00000288207:p.Val174Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	37	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371567	0.61624	.	.	ENSG00000157456	ENST00000288207	T	0.11277	2.79	5.54	5.54	0.83059	Cyclin, N-terminal (2);Cyclin-like (3);	0.056803	0.64402	D	0.000001	T	0.11495	0.0280	L	0.27053	0.805	0.58432	D	0.999999	B;B	0.34161	0.439;0.276	B;B	0.37387	0.181;0.248	T	0.17107	-1.0380	10	0.33141	T	0.24	.	18.4665	0.90757	0.0:0.0:1.0:0.0	.	174;174	Q53HG9;O95067	.;CCNB2_HUMAN	I	174	ENSP00000288207:V174I	ENSP00000288207:V174I	V	+	1	0	CCNB2	57194290	1.000000	0.71417	0.987000	0.45799	0.821000	0.46438	3.706000	0.54830	2.601000	0.87937	0.655000	0.94253	GTA		0.458	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1		NM_004701	
CCNT2	905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	135711411	135711411	+	Silent	SNP	A	A	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr2:135711411A>G	ENST00000264157.5	+	9	1416	c.1386A>G	c.(1384-1386)gaA>gaG	p.E462E	CCNT2_ENST00000295238.6_Silent_p.E462E|CCNT2_ENST00000537343.1_Silent_p.E287E	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	462					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E462E(1)		endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CCCAGGTAGAACAGCAGCACA	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											51.0	53.0	52.0					2																	135711411		2203	4300	6503	SO:0001819	synonymous_variant	905			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.1386A>G	2.37:g.135711411A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Silent	SNP	ENST00000264157.5	37	CCDS2174.1																																																																																				0.383	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1		NM_058241	
CHL1	10752	broad.mit.edu;hgsc.bcm.edu	37	3	391066	391066	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr3:391066C>A	ENST00000256509.2	+	10	1515	c.873C>A	c.(871-873)aaC>aaA	p.N291K	CHL1_ENST00000397491.2_Missense_Mutation_p.N275K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.N291K(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGATTGGAACAAAATTGGTG	0.338																																																	1	Substitution - Missense(1)	kidney(1)											57.0	57.0	57.0					3																	391066		2203	4300	6503	SO:0001583	missense	10752			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.873C>A	3.37:g.391066C>A	ENSP00000256509:p.Asn291Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	C	1.273	-0.612599	0.03690	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.27890	1.64;1.64	5.46	-4.62	0.03370	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.864266	0.10563	N	0.660062	T	0.07503	0.0189	N	0.01576	-0.805	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.24297	-1.0164	10	0.30078	T	0.28	.	0.9954	0.01465	0.3889:0.245:0.1711:0.195	.	275;275;291	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	K	291;275	ENSP00000256509:N291K;ENSP00000380628:N275K	ENSP00000256509:N291K	N	+	3	2	CHL1	366066	0.000000	0.05858	0.065000	0.19835	0.939000	0.58152	-1.122000	0.03267	-0.477000	0.06832	-0.284000	0.09977	AAC		0.338	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2		NM_006614	
CNTNAP1	8506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40848118	40848118	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr17:40848118G>C	ENST00000264638.4	+	20	3639	c.3422G>C	c.(3421-3423)gGc>gCc	p.G1141A	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1141	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.G1141A(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GTGACCGATGGCCAGCCCCAT	0.537																																																	1	Substitution - Missense(1)	kidney(1)											168.0	137.0	147.0					17																	40848118		2203	4300	6503	SO:0001583	missense	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3422G>C	17.37:g.40848118G>C	ENSP00000264638:p.Gly1141Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000264638.4	37	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550817	0.65311	.	.	ENSG00000108797	ENST00000264638	D	0.84442	-1.85	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000001	D	0.93259	0.7852	M	0.83118	2.625	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.93440	0.6793	10	0.66056	D	0.02	.	19.7629	0.96329	0.0:0.0:1.0:0.0	.	1141	P78357	CNTP1_HUMAN	A	1141	ENSP00000264638:G1141A	ENSP00000264638:G1141A	G	+	2	0	CNTNAP1	38101644	1.000000	0.71417	0.990000	0.47175	0.066000	0.16364	8.502000	0.90505	2.666000	0.90696	0.561000	0.74099	GGC		0.537	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1		NM_003632	
COL1A1	1277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48272628	48272628	+	Missense_Mutation	SNP	C	C	T	rs72648328		TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr17:48272628C>T	ENST00000225964.5	-	19	1382	c.1264G>A	c.(1264-1266)Ggc>Agc	p.G422S		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	422	Triple-helical region.		G -> C (in OI2). {ECO:0000269|Ref.45}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G422S(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CCGCCGGGGCCCTGGGGTCCA	0.672			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																																	Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	1	Substitution - Missense(1)	kidney(1)	GRCh37	CM930142	COL1A1	M	rs72648328						28.0	35.0	33.0					17																	48272628		2202	4299	6501	SO:0001583	missense	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1264G>A	17.37:g.48272628C>T	ENSP00000225964:p.Gly422Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923017	0.92319	.	.	ENSG00000108821	ENST00000225964	D	0.99329	-5.75	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97717	1.0194	10	0.87932	D	0	.	18.8953	0.92421	0.0:1.0:0.0:0.0	.	422	P02452	CO1A1_HUMAN	S	422	ENSP00000225964:G422S	ENSP00000225964:G422S	G	-	1	0	COL1A1	45627627	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.047000	0.71038	2.764000	0.94973	0.557000	0.71058	GGC		0.672	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			
CTBP2	1488	broad.mit.edu;hgsc.bcm.edu	37	10	126683133	126683133	+	Silent	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr10:126683133G>A	ENST00000337195.5	-	7	1084	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	CTBP2_ENST00000411419.2_Silent_p.L229L|CTBP2_ENST00000309035.6_Silent_p.L769L|CTBP2_ENST00000494626.2_Silent_p.L229L|CTBP2_ENST00000334808.6_Silent_p.L297L|CTBP2_ENST00000531469.1_Silent_p.L229L	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	229					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)	p.L769L(1)|p.L229L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AAATCCTGCAGGGTGTAGACC	0.507																																																	2	Substitution - coding silent(2)	kidney(2)											85.0	79.0	81.0					10																	126683133		2203	4300	6503	SO:0001819	synonymous_variant	1488			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.685C>T	10.37:g.126683133G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	CCDS7643.1																																																																																				0.507	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3		NM_001083914	
DACT1	51339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	59113096	59113096	+	Silent	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr14:59113096G>A	ENST00000335867.4	+	4	1779	c.1755G>A	c.(1753-1755)aaG>aaA	p.K585K	DACT1_ENST00000556859.1_Silent_p.K304K|DACT1_ENST00000395153.3_Silent_p.K548K|DACT1_ENST00000541264.2_Silent_p.K304K			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	585					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.K585K(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCAGCCTGAAGCACCGCGGCC	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											19.0	23.0	21.0					14																	59113096		2203	4300	6503	SO:0001819	synonymous_variant	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1755G>A	14.37:g.59113096G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	CCDS9736.1																																																																																				0.657	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1		NM_016651	
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56399926	56399926	+	Silent	SNP	T	T	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr6:56399926T>C	ENST00000361203.3	-	59	16309	c.16302A>G	c.(16300-16302)gaA>gaG	p.E5434E	DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Silent_p.E5436E|DST_ENST00000370754.5_Silent_p.E5614E|DST_ENST00000244364.6_Silent_p.E3022E|DST_ENST00000421834.2_Silent_p.E3348E|DST_ENST00000370788.2_Silent_p.E3348E|DST_ENST00000446842.2_Silent_p.E5110E|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5434					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E5436E(1)|p.E3022E(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTACCTTTTGTTCTTGTATCT	0.408																																																	2	Substitution - coding silent(2)	kidney(2)											166.0	167.0	167.0					6																	56399926		1861	4113	5974	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16302A>G	6.37:g.56399926T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37																																																																																					0.408	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723	
EEFSEC	60678	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	128060617	128060618	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr3:128060617_128060618GG>CT	ENST00000254730.6	+	5	1382_1383	c.1328_1329GG>CT	c.(1327-1329)cGG>cCT	p.R443P	EEFSEC_ENST00000483457.1_Missense_Mutation_p.R388P|EEFSEC_ENST00000483569.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	443					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)	p.R443>?(1)|p.R443R(1)|p.R443P(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						AACACGTGCCGGCTAGCCTTCC	0.604																																																	3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	60678				CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	Exception_encountered	3.37:g.128060617_128060618delinsCT	ENSP00000254730:p.Arg443Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q96HZ6	Missense_Mutation|Silent	SNP	ENST00000254730.6	37	CCDS33849.1																																																																																				0.604	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2		NM_021937	
EXPH5	23086	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108382192	108382192	+	Missense_Mutation	SNP	C	C	G	rs375346460		TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr11:108382192C>G	ENST00000265843.4	-	6	4152	c.4042G>C	c.(4042-4044)Gct>Cct	p.A1348P	EXPH5_ENST00000525344.1_Missense_Mutation_p.A1341P|EXPH5_ENST00000443411.1_Missense_Mutation_p.A1160P|EXPH5_ENST00000428840.1_Missense_Mutation_p.A1272P|EXPH5_ENST00000524840.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1348					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.A1348P(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCAACAGAAGCCATTTCCTGT	0.418																																																	1	Substitution - Missense(1)	kidney(1)											42.0	46.0	45.0					11																	108382192		2198	4297	6495	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4042G>C	11.37:g.108382192C>G	ENSP00000265843:p.Ala1348Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010874	0.35511	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.05513	4.19;4.12;3.97;4.19;4.04;3.43	5.76	3.85	0.44370	.	0.845353	0.10611	N	0.654478	T	0.17959	0.0431	M	0.65975	2.015	0.09310	N	1	D	0.67145	0.996	D	0.65010	0.931	T	0.15122	-1.0448	10	0.42905	T	0.14	-3.8669	5.3526	0.16043	0.1385:0.6321:0.1511:0.0782	.	1348	Q8NEV8	EXPH5_HUMAN	P	1348;1272;1160;1341;1272;1160	ENSP00000265843:A1348P;ENSP00000391966:A1272P;ENSP00000411390:A1160P;ENSP00000432546:A1341P;ENSP00000432683:A1272P;ENSP00000446434:A1160P	ENSP00000265843:A1348P	A	-	1	0	EXPH5	107887402	0.000000	0.05858	0.131000	0.22000	0.045000	0.14185	-0.084000	0.11268	0.740000	0.32651	0.591000	0.81541	GCT		0.418	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1		NM_015065	
FAM83D	81610	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	37580732	37580732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr20:37580732C>T	ENST00000217429.4	+	4	1458	c.1417C>T	c.(1417-1419)Cag>Tag	p.Q473*		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	443	Ser-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q473*(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GACCACTACTCAGACTGACAT	0.468																																																	1	Substitution - Nonsense(1)	kidney(1)											117.0	115.0	116.0					20																	37580732		2101	4215	6316	SO:0001587	stop_gained	81610			AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1417C>T	20.37:g.37580732C>T	ENSP00000217429:p.Gln473*	Somatic		WXS	Illumina HiSeq	Phase_I	B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Nonsense_Mutation	SNP	ENST00000217429.4	37	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877811	0.72294	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	.	.	.	5.49	5.49	0.81192	.	1.575260	0.03233	N	0.179266	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3536	0.94401	0.0:1.0:0.0:0.0	.	.	.	.	X	473;427	.	ENSP00000217429:Q473X	Q	+	1	0	FAM83D	37014146	0.998000	0.40836	1.000000	0.80357	0.340000	0.28889	4.021000	0.57196	2.733000	0.93635	0.655000	0.94253	CAG		0.468	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			
FLNC	2318	broad.mit.edu;hgsc.bcm.edu	37	7	128494133	128494133	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr7:128494133G>A	ENST00000325888.8	+	40	6851	c.6590G>A	c.(6589-6591)cGg>cAg	p.R2197Q	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R2164Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2197	Intradomain insert; mediate targeting to Z lines.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.R2197Q(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGCAAGACGCGGGGCGGGGAG	0.682																																																	1	Substitution - Missense(1)	kidney(1)											20.0	25.0	23.0					7																	128494133		2065	4189	6254	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6590G>A	7.37:g.128494133G>A	ENSP00000327145:p.Arg2197Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332753	0.41297	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85339	-1.97;-1.96	5.64	5.64	0.86602	.	0.068404	0.64402	D	0.000013	T	0.70159	0.3192	N	0.08118	0	0.42372	D	0.992459	P;P	0.50710	0.938;0.913	B;B	0.36289	0.221;0.208	T	0.75091	-0.3440	10	0.35671	T	0.21	.	17.1975	0.86897	0.0:0.0:1.0:0.0	.	2164;2197	Q14315-2;Q14315	.;FLNC_HUMAN	Q	2197;2164	ENSP00000327145:R2197Q;ENSP00000344002:R2164Q	ENSP00000327145:R2197Q	R	+	2	0	FLNC	128281369	1.000000	0.71417	0.613000	0.29037	0.948000	0.59901	6.448000	0.73469	2.655000	0.90218	0.655000	0.94253	CGG		0.682	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			
FMN2	56776	broad.mit.edu;ucsc.edu	37	1	240370625	240370625	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr1:240370625A>G	ENST00000319653.9	+	5	2743	c.2513A>G	c.(2512-2514)cAa>cGa	p.Q838R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	838	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.Q981R(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCGAGTTTCAAACCAGCCAC	0.547																																																	1	Substitution - Missense(1)	kidney(1)											91.0	88.0	89.0					1																	240370625		2203	4300	6503	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2513A>G	1.37:g.240370625A>G	ENSP00000318884:p.Gln838Arg	Somatic		WXS	Illumina GAIIx	Phase_I	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	A	6.788	0.514447	0.12944	.	.	ENSG00000155816	ENST00000319653	T	0.25749	1.78	4.09	1.57	0.23409	Actin-binding FH2/DRF autoregulatory (1);	0.646841	0.14096	N	0.341720	T	0.10380	0.0254	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.31998	-0.9923	9	.	.	.	.	4.7911	0.13248	0.6823:0.0:0.1004:0.2173	.	838	Q9NZ56	FMN2_HUMAN	R	838	ENSP00000318884:Q838R	.	Q	+	2	0	FMN2	238437248	0.869000	0.29996	0.867000	0.34043	0.631000	0.37964	1.440000	0.35024	0.732000	0.32470	0.454000	0.30748	CAA		0.547	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2		XM_371352	
GFRAL	389400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	55214903	55214903	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr6:55214903G>T	ENST00000340465.2	+	4	416	c.330G>T	c.(328-330)gaG>gaT	p.E110D		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	110					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E110D(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACGTGAAAGAGGATAAATTCA	0.289																																																	1	Substitution - Missense(1)	kidney(1)											76.0	74.0	75.0					6																	55214903		2201	4297	6498	SO:0001583	missense	389400			AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.330G>T	6.37:g.55214903G>T	ENSP00000343636:p.Glu110Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	G	2.751	-0.260129	0.05791	.	.	ENSG00000187871	ENST00000340465	T	0.32272	1.46	4.56	0.516	0.17019	.	2.614030	0.01553	N	0.019774	T	0.11067	0.0270	L	0.51422	1.61	0.09310	N	1	B	0.28233	0.204	B	0.26310	0.068	T	0.15150	-1.0447	10	0.40728	T	0.16	-19.5185	4.433	0.11536	0.2928:0.1648:0.5425:0.0	.	110	Q6UXV0	GFRAL_HUMAN	D	110	ENSP00000343636:E110D	ENSP00000343636:E110D	E	+	3	2	GFRAL	55322862	0.191000	0.23288	0.001000	0.08648	0.006000	0.05464	0.062000	0.14389	-0.144000	0.11314	0.655000	0.94253	GAG		0.289	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2		NM_207410	
GNL2	29889	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	38059398	38059398	+	Silent	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr1:38059398G>A	ENST00000373062.3	-	2	212	c.114C>T	c.(112-114)atC>atT	p.I38I		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	38					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.I38I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TCAGGCGCCGGATGGTGGCCC	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											104.0	101.0	102.0					1																	38059398		2203	4300	6503	SO:0001819	synonymous_variant	29889			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.114C>T	1.37:g.38059398G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9BWN7	Silent	SNP	ENST00000373062.3	37	CCDS421.1																																																																																				0.507	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1		NM_013285	
SLC52A2	79581	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145584463	145584463	+	Splice_Site	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr8:145584463G>A	ENST00000532887.1	+	5	1709	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	SLC52A2_ENST00000540505.1_Splice_Site_p.V288M|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000530047.1_Splice_Site_p.V376M|SLC52A2_ENST00000329994.2_Splice_Site_p.V376M|SLC52A2_ENST00000526752.1_Splice_Site_p.G44D|SLC52A2_ENST00000527078.1_Splice_Site_p.V376M|SLC52A2_ENST00000402965.1_Splice_Site_p.V376M|FBXL6_ENST00000331890.5_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	376					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)	p.V376M(1)								Gamma Hydroxybutyric Acid(DB01440)	TCCCCCTCAGGTGCTGTCGTG	0.672																																																	1	Substitution - Missense(1)	kidney(1)											104.0	80.0	88.0					8																	145584463		2203	4299	6502	SO:0001630	splice_region_variant	0			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1126-1G>A	8.37:g.145584463G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	CCDS6423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.16|18.16	3.562964|3.562964	0.65538|0.65538	.|.	.|.	ENSG00000185803|ENSG00000185803	ENST00000526752|ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T|D;D;D;D;D;D	0.77750|0.83591	-1.12|-1.74;-1.74;-1.74;-1.74;-1.74;-1.57	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.393280	.|0.25714	.|N	.|0.028793	D|D	0.89248|0.89248	0.6661|0.6661	M|M	0.78916|0.78916	2.43|2.43	0.54753|0.54753	D|D	0.999983|0.999983	.|D	.|0.89917	.|1.0	.|D	.|0.75020	.|0.985	D|D	0.89121|0.89121	0.3503|0.3503	6|9	.|.	.|.	.|.	.|.	9.1467|9.1467	0.36937|0.36937	0.1:0.0:0.9:0.0|0.1:0.0:0.9:0.0	.|.	.|376	.|Q9HAB3	.|RFT3_HUMAN	D|M	44|376;376;376;376;376;288	ENSP00000433796:G44D|ENSP00000435820:V376M;ENSP00000434728:V376M;ENSP00000385961:V376M;ENSP00000436768:V376M;ENSP00000333638:V376M;ENSP00000440400:V288M	.|.	G|V	+|+	2|1	0|0	GPR172A|GPR172A	145555271|145555271	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.927000|0.927000	0.56198|0.56198	3.843000|3.843000	0.55865|0.55865	2.230000|2.230000	0.72887|0.72887	0.462000|0.462000	0.41574|0.41574	GGT|GTG		0.672	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1		NM_024531	Missense_Mutation
IGF2BP2	10644	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	185393190	185393190	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr3:185393190T>A	ENST00000382199.2	-	9	1060	c.965A>T	c.(964-966)gAa>gTa	p.E322V	IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.E328V|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.E265V|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.E322V	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	322	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.E322V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GATGGTTCTTTCCGGGTTGTA	0.403																																																	1	Substitution - Missense(1)	kidney(1)											88.0	84.0	85.0					3																	185393190		2203	4300	6503	SO:0001583	missense	10644			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.965A>T	3.37:g.185393190T>A	ENSP00000371634:p.Glu322Val	Somatic		WXS	Illumina HiSeq	Phase_I	A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	37	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	T	27.6	4.845514	0.91197	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.34	5.34	0.76211	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;1.0	D;D;D;D;D;D	0.91635	0.996;0.997;0.997;0.997;0.96;0.999	T	0.80852	-0.1197	10	0.52906	T	0.07	-14.7629	14.591	0.68365	0.0:0.0:0.0:1.0	.	259;259;265;328;322;322	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	V	322;265;328;322	ENSP00000371634:E322V;ENSP00000413787:E265V;ENSP00000410242:E328V;ENSP00000320204:E322V	ENSP00000320204:E322V	E	-	2	0	IGF2BP2	186875884	1.000000	0.71417	0.933000	0.37362	0.977000	0.68977	7.909000	0.87444	2.143000	0.66587	0.260000	0.18958	GAA		0.403	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2		NM_006548	
ITGB2	3689	broad.mit.edu;ucsc.edu	37	21	46321408	46321408	+	Splice_Site	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr21:46321408G>A	ENST00000397850.2	-	7	1192	c.740C>T	c.(739-741)cCg>cTg	p.P247L	ITGB2_ENST00000397857.1_Splice_Site_p.P247L|ITGB2_ENST00000397854.3_Splice_Site_p.P190L|ITGB2_ENST00000302347.5_Splice_Site_p.P247L|ITGB2_ENST00000397852.1_Splice_Site_p.P247L|ITGB2_ENST00000355153.4_Splice_Site_p.P247L			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	247	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.P247L(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CGGCCTCACCGGGCAGGCGGC	0.687																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001630	splice_region_variant	3689			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.741+1C>T	21.37:g.46321408G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450650	0.26074	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216	D;D;D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0;-3.0;-3.0	4.1	0.86	0.19042	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	.	.	.	.	T	0.81356	0.4805	N	0.22421	0.69	0.31033	N	0.717162	B;B	0.10296	0.001;0.003	B;B	0.08055	0.002;0.003	T	0.69098	-0.5235	9	0.23891	T	0.37	.	1.1568	0.01797	0.2126:0.1578:0.4476:0.182	.	190;247	A8MYE6;P05107	.;ITB2_HUMAN	L	247;247;190;247;247;247;190;238	ENSP00000380950:P247L;ENSP00000380955:P247L;ENSP00000380952:P190L;ENSP00000347279:P247L;ENSP00000380948:P247L;ENSP00000303242:P247L;ENSP00000317697:P238L	ENSP00000303242:P247L	P	-	2	0	ITGB2	45145836	0.887000	0.30362	0.997000	0.53966	0.914000	0.54420	0.027000	0.13621	0.380000	0.24823	-0.226000	0.12346	CCG		0.687	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2		NM_000211	Missense_Mutation
KLHL41	10324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170371427	170371427	+	Silent	SNP	A	A	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr2:170371427A>T	ENST00000284669.1	+	3	1409	c.1332A>T	c.(1330-1332)tcA>tcT	p.S444S	BBS5_ENST00000554017.1_Silent_p.S382S|RP11-724O16.1_ENST00000513963.1_Silent_p.S382S|KLHL41_ENST00000463400.1_3'UTR	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	444					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)		p.S444S(1)									ATGTGATTTCACATAAAGGGA	0.338																																																	1	Substitution - coding silent(1)	kidney(1)											72.0	76.0	75.0					2																	170371427		2203	4300	6503	SO:0001819	synonymous_variant	0			AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1332A>T	2.37:g.170371427A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q53R42	Silent	SNP	ENST00000284669.1	37	CCDS2234.1																																																																																				0.338	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1		NM_006063	
KCNV2	169522	broad.mit.edu;hgsc.bcm.edu	37	9	2718197	2718197	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr9:2718197G>A	ENST00000382082.3	+	1	696	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	153					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R153H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TTCTTCGACCGCGACCCGGCC	0.652																																																	1	Substitution - Missense(1)	kidney(1)											25.0	22.0	23.0					9																	2718197		2202	4300	6502	SO:0001583	missense	169522			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.458G>A	9.37:g.2718197G>A	ENSP00000371514:p.Arg153His	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351617	0.82132	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	D	0.90261	-2.64	5.07	4.15	0.48705	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.96676	0.8915	H	0.95402	3.665	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.97695	1.0181	10	0.87932	D	0	.	15.3544	0.74415	0.0:0.1403:0.8597:0.0	.	153	Q8TDN2	KCNV2_HUMAN	H	153	ENSP00000371514:R153H	ENSP00000371514:R153H	R	+	2	0	KCNV2	2708197	1.000000	0.71417	0.820000	0.32676	0.986000	0.74619	9.869000	0.99810	1.095000	0.41419	0.462000	0.41574	CGC		0.652	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1		NM_133497	
KDM5B	10765	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	202777266	202777266	+	Silent	SNP	G	G	C	rs150129345		TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr1:202777266G>C	ENST00000367265.3	-	1	1332	c.168C>G	c.(166-168)gcC>gcG	p.A56A	PCAT6_ENST00000425295.1_RNA|RP11-480I12.10_ENST00000564127.1_RNA|PCAT6_ENST00000553157.1_RNA|PCAT6_ENST00000417262.1_RNA|KDM5B_ENST00000367264.2_Silent_p.A56A	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	56	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.A56A(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CAGTCTGCTCGGCTATGGGCC	0.682																																																	1	Substitution - coding silent(1)	kidney(1)											35.0	46.0	42.0					1																	202777266		2203	4300	6503	SO:0001819	synonymous_variant	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.168C>G	1.37:g.202777266G>C		Somatic		WXS	Illumina HiSeq	Phase_I	O95811|Q15752|Q9Y3Q5	Silent	SNP	ENST00000367265.3	37	CCDS30974.1																																																																																				0.682	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2		NM_006618	
VWA8	23078	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	42361642	42361642	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr13:42361642T>G	ENST00000379310.3	-	18	2169	c.2101A>C	c.(2101-2103)Aat>Cat	p.N701H	VWA8_ENST00000281496.6_Missense_Mutation_p.N701H	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	701						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.N701H(1)									TCTGCCAGATTTTTTTCTAAT	0.373																																																	1	Substitution - Missense(1)	kidney(1)											66.0	70.0	69.0					13																	42361642		2203	4298	6501	SO:0001583	missense	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.2101A>C	13.37:g.42361642T>G	ENSP00000368612:p.Asn701His	Somatic		WXS	Illumina HiSeq	Phase_I	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.849383	0.71603	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.11821	2.93;2.74	5.13	5.13	0.70059	.	0.156705	0.56097	D	0.000038	T	0.25195	0.0612	L	0.57536	1.79	0.45914	D	0.998752	P	0.50819	0.939	P	0.52554	0.702	T	0.00742	-1.1585	10	0.45353	T	0.12	.	14.2213	0.65828	0.0:0.0:0.0:1.0	.	701	A3KMH1	K0564_HUMAN	H	605;701;701	ENSP00000368612:N701H;ENSP00000281496:N701H	ENSP00000251030:N605H	N	-	1	0	KIAA0564	41259642	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.308000	0.65768	2.063000	0.61619	0.533000	0.62120	AAT		0.373	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2		NM_015058	
KIAA1841	84542	broad.mit.edu	37	2	61336340	61336340	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr2:61336340G>C	ENST00000402291.1	+	16	1894	c.1653G>C	c.(1651-1653)caG>caC	p.Q551H	KIAA1841_ENST00000295031.5_Missense_Mutation_p.Q551H|KIAA1841_ENST00000356719.2_Missense_Mutation_p.Q551H|KIAA1841_ENST00000453873.1_Missense_Mutation_p.Q551H	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	551								p.Q551H(2)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AGAAACAACAGTCACTGTTTT	0.269																																																	2	Substitution - Missense(2)	kidney(2)											76.0	86.0	82.0					2																	61336340		2203	4298	6501	SO:0001583	missense	84542			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1653G>C	2.37:g.61336340G>C	ENSP00000385579:p.Gln551His	Somatic		WXS	Illumina GAIIx	Phase_I	Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360763	0.61403	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.5	0.469	0.16741	.	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	M	0.71581	2.175	0.51767	D	0.999932	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.59295	-0.7481	10	0.72032	D	0.01	-13.6592	10.1832	0.42982	0.4347:0.0:0.5653:0.0	.	551;551	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	H	551	ENSP00000385579:Q551H;ENSP00000295031:Q551H;ENSP00000349154:Q551H;ENSP00000416795:Q551H	ENSP00000295031:Q551H	Q	+	3	2	KIAA1841	61189844	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.482000	0.45224	0.256000	0.21614	0.585000	0.79938	CAG		0.269	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1		NM_032506	
KLK13	26085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51559929	51559929	+	Missense_Mutation	SNP	C	C	T	rs200569857		TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr19:51559929C>T	ENST00000595793.1	-	5	791	c.749G>A	c.(748-750)cGt>cAt	p.R250H	KLK13_ENST00000335422.3_Missense_Mutation_p.R98H|KLK13_ENST00000595547.1_Missense_Mutation_p.R177H	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	250	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)	p.R250H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TCTTGAGACACGGGTGTAGAC	0.512																																																	1	Substitution - Missense(1)	kidney(1)											182.0	176.0	178.0					19																	51559929		2203	4300	6503	SO:0001583	missense	26085				CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.749G>A	19.37:g.51559929C>T	ENSP00000470555:p.Arg250His	Somatic		WXS	Illumina HiSeq	Phase_I	A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254483	0.59212	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.94687	-3.49	4.49	3.44	0.39384	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.41938	D	0.000800	D	0.95439	0.8519	M	0.64567	1.98	0.09310	N	0.999997	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.70227	0.961;0.968;0.953	D	0.88835	0.3308	10	0.87932	D	0	.	6.9482	0.24530	0.0:0.7933:0.0:0.2067	.	98;177;250	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	H	250;98	ENSP00000334079:R98H	ENSP00000156476:R250H	R	-	2	0	KLK13	56251741	0.003000	0.15002	0.210000	0.23637	0.219000	0.24729	1.049000	0.30392	1.249000	0.43950	0.650000	0.86243	CGT		0.512	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2		NM_015596	
LAMA1	284217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	7009293	7009293	+	Missense_Mutation	SNP	C	C	T	rs149753863	byFrequency	TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr18:7009293C>T	ENST00000389658.3	-	27	4039	c.3946G>A	c.(3946-3948)Gat>Aat	p.D1316N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1316	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.D1316N(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TACTCAATATCGCTGAGGACA	0.363													C|||	2	0.000399361	0.0	0.0	5008	,	,		17251	0.0		0.002	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						C	ASN/ASP	5,4401	9.9+/-24.2	0,5,2198	138.0	132.0	134.0		3946	3.8	0.9	18	dbSNP_134	134	22,8578	16.6+/-54.9	0,22,4278	yes	missense	LAMA1	NM_005559.3	23	0,27,6476	TT,TC,CC		0.2558,0.1135,0.2076	benign	1316/3076	7009293	27,12979	2203	4300	6503	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3946G>A	18.37:g.7009293C>T	ENSP00000374309:p.Asp1316Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.427	-0.905241	0.02453	0.001135	0.002558	ENSG00000101680	ENST00000389658	T	0.33438	1.41	6.15	3.77	0.43336	Laminin B type IV (2);Laminin B, subgroup (1);	0.097504	0.64402	N	0.000002	T	0.09202	0.0227	N	0.01209	-0.955	0.28282	N	0.923954	B	0.02656	0.0	B	0.04013	0.001	T	0.34229	-0.9837	10	0.02654	T	1	.	10.8201	0.46599	0.0:0.1275:0.0:0.8725	.	1316	P25391	LAMA1_HUMAN	N	1316	ENSP00000374309:D1316N	ENSP00000374309:D1316N	D	-	1	0	LAMA1	6999293	1.000000	0.71417	0.913000	0.36048	0.255000	0.26057	3.045000	0.49838	0.558000	0.29135	-0.255000	0.11280	GAT		0.363	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		NM_005559	
LRP1B	53353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	141773379	141773379	+	Silent	SNP	T	T	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr2:141773379T>G	ENST00000389484.3	-	13	3047	c.2076A>C	c.(2074-2076)tcA>tcC	p.S692S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	692					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S692S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGCATCTTTGAAGTCACAA	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												1	Substitution - coding silent(1)	kidney(1)											138.0	134.0	135.0					2																	141773379		2203	4300	6503	SO:0001819	synonymous_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2076A>C	2.37:g.141773379T>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557	
LYST	1130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	235894212	235894212	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr1:235894212A>C	ENST00000389794.3	-	36	9153	c.8979T>G	c.(8977-8979)ttT>ttG	p.F2993L	LYST_ENST00000389793.2_Missense_Mutation_p.F2993L|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2993					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.F2993L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTTGTCTTCAAACAGGTAAG	0.333																																																	1	Substitution - Missense(1)	kidney(1)											112.0	120.0	118.0					1																	235894212		2203	4300	6503	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8979T>G	1.37:g.235894212A>C	ENSP00000374444:p.Phe2993Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.240572	0.58995	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.61859	0.07;0.07	5.76	4.64	0.57946	.	0.095658	0.85682	N	0.000000	T	0.47358	0.1441	L	0.43152	1.355	0.80722	D	1	P	0.44986	0.847	B	0.37601	0.254	T	0.49588	-0.8924	10	0.62326	D	0.03	.	11.6179	0.51099	0.9307:0.0:0.0693:0.0	.	2993	Q99698	LYST_HUMAN	L	2993	ENSP00000374444:F2993L;ENSP00000374443:F2993L	ENSP00000374443:F2993L	F	-	3	2	LYST	233960835	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.164000	0.50770	1.011000	0.39340	0.482000	0.46254	TTT		0.333	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			
MAPK4	5596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	48190332	48190332	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr18:48190332G>A	ENST00000400384.2	+	2	1040	c.4G>A	c.(4-6)Gct>Act	p.A2T	MAPK4_ENST00000592595.1_Missense_Mutation_p.A2T|MAPK4_ENST00000588540.1_Missense_Mutation_p.A2T|MAPK4_ENST00000540640.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	2					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.A2T(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GCCCACAATGGCTGAGAAGGG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											78.0	81.0	80.0					18																	48190332		2071	4200	6271	SO:0001583	missense	5596			X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.4G>A	18.37:g.48190332G>A	ENSP00000383234:p.Ala2Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125072	0.77436	.	.	ENSG00000141639	ENST00000400384	T	0.76448	-1.02	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000005	D	0.86285	0.5896	L	0.53249	1.67	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86654	0.1900	10	0.66056	D	0.02	-12.4769	18.5255	0.90971	0.0:0.0:1.0:0.0	.	2;2	Q0VG04;P31152	.;MK04_HUMAN	T	2	ENSP00000383234:A2T	ENSP00000383234:A2T	A	+	1	0	MAPK4	46444330	1.000000	0.71417	0.998000	0.56505	0.237000	0.25408	9.318000	0.96334	2.674000	0.91012	0.561000	0.74099	GCT		0.587	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2		NM_002747	
MEGF9	1955	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	123384993	123384993	+	Missense_Mutation	SNP	T	T	C	rs201374644		TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr9:123384993T>C	ENST00000373930.3	-	3	955	c.844A>G	c.(844-846)Ata>Gta	p.I282V	MEGF9_ENST00000426959.1_Missense_Mutation_p.I319V	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	282	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)		p.I319V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						CGGTCACATATAGAGCCAATG	0.413																																																	1	Substitution - Missense(1)	kidney(1)											123.0	117.0	119.0					9																	123384993		1950	4157	6107	SO:0001583	missense	1955			AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.844A>G	9.37:g.123384993T>C	ENSP00000363040:p.Ile282Val	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	T	11.24	1.580210	0.28180	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.61040	0.14;0.14	6.17	-0.603	0.11630	.	0.419713	0.24409	N	0.038776	T	0.27134	0.0665	N	0.04508	-0.205	0.09310	N	0.999997	B	0.06786	0.001	B	0.11329	0.006	T	0.10567	-1.0624	10	0.56958	D	0.05	3.4573	3.065	0.06212	0.407:0.0642:0.1099:0.4188	.	319	C9J1K8	.	V	282;319	ENSP00000363040:I282V;ENSP00000392666:I319V	ENSP00000363040:I282V	I	-	1	0	MEGF9	122424814	0.963000	0.33076	0.518000	0.27811	0.863000	0.49368	0.455000	0.21843	-0.336000	0.08438	-0.438000	0.05819	ATA		0.413	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1		NM_001080497	
METTL13	51603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	171756920	171756920	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr1:171756920C>G	ENST00000361735.3	+	4	1425	c.1159C>G	c.(1159-1161)Cag>Gag	p.Q387E	METTL13_ENST00000458517.1_Missense_Mutation_p.Q386E|METTL13_ENST00000362019.3_Missense_Mutation_p.Q301E|METTL13_ENST00000367737.5_Missense_Mutation_p.Q231E	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	387							methyltransferase activity (GO:0008168)	p.Q387E(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CCGGACCGTTCAGCACCAAGA	0.517																																																	1	Substitution - Missense(1)	kidney(1)											82.0	71.0	74.0					1																	171756920		2203	4300	6503	SO:0001583	missense	51603			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1159C>G	1.37:g.171756920C>G	ENSP00000354920:p.Gln387Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	C	4.981	0.182162	0.09495	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.71	4.8	0.61643	.	0.529195	0.21175	N	0.078914	T	0.58075	0.2097	L	0.44542	1.39	0.29220	N	0.874019	B;P;B	0.38195	0.128;0.622;0.358	B;B;B	0.36092	0.044;0.217;0.07	T	0.58047	-0.7705	10	0.51188	T	0.08	-24.9536	14.3813	0.66914	0.0:0.9281:0.0:0.0719	.	386;231;387	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	E	386;301;231;387	ENSP00000401955:Q386E;ENSP00000355393:Q301E;ENSP00000356711:Q231E;ENSP00000354920:Q387E	ENSP00000354920:Q387E	Q	+	1	0	METTL13	170023543	1.000000	0.71417	0.593000	0.28771	0.009000	0.06853	2.362000	0.44169	1.415000	0.47037	-0.140000	0.14226	CAG		0.517	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5		NM_014955	
Unknown	0	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	54886172	54886172	+	IGR	SNP	T	T	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr13:54886172T>A								LINC00458 (179171 upstream) : AL512655.1 (493829 downstream)																							AGATCAACCCTAGAGATAAAC	0.323																																																	0													70.0	67.0	68.0					13																	54886172		1565	3581	5146	SO:0001628	intergenic_variant	100302187																															13.37:g.54886172T>A		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP		37																																																																																				0	0.323									
KMT2B	9757	broad.mit.edu	37	19	36224005	36224006	+	Frame_Shift_Ins	INS	-	-	C	rs199710362|rs147972814		TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr19:36224005_36224006insC	ENST00000222270.7	+	28	6555_6556	c.6555_6556insC	c.(6556-6558)cccfs	p.P2186fs	KMT2B_ENST00000420124.1_Frame_Shift_Ins_p.P2186fs|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2186					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A2189fs*23(1)									AGCCCCCCAAACCCGCCACATC	0.629																																																	1	Insertion - Frameshift(1)	central_nervous_system(1)																																								SO:0001589	frameshift_variant	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.6558dupC	19.37:g.36224008_36224008dupC	ENSP00000222270:p.Pro2186fs	Somatic		WXS	Illumina GAIIx	Phase_I	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Ins	INS	ENST00000222270.7	37	CCDS46055.1																																																																																				0.629	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014727	
MYOM3	127294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	24432548	24432548	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr1:24432548T>C	ENST00000374434.3	-	5	584	c.422A>G	c.(421-423)gAg>gGg	p.E141G	MYOM3_ENST00000329601.7_Missense_Mutation_p.E141G|MYOM3_ENST00000330966.7_Missense_Mutation_p.E142G|MYOM3_ENST00000475306.1_5'UTR	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	141						M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.E141G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTCCTTGGCCTCCTGGACCTT	0.637																																																	1	Substitution - Missense(1)	kidney(1)											48.0	60.0	56.0					1																	24432548		2105	4205	6310	SO:0001583	missense	127294			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.422A>G	1.37:g.24432548T>C	ENSP00000363557:p.Glu141Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	T	9.391	1.075443	0.20227	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.56275	0.49;0.5;0.47	5.34	5.34	0.76211	.	0.421269	0.24274	N	0.039972	T	0.36082	0.0954	N	0.14661	0.345	0.24740	N	0.993041	B;B	0.26147	0.143;0.094	B;B	0.33960	0.173;0.023	T	0.26643	-1.0097	10	0.26408	T	0.33	.	8.7411	0.34558	0.1688:0.0:0.0:0.8312	.	141;141	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	G	141;142;141	ENSP00000363557:E141G;ENSP00000332670:E142G;ENSP00000328415:E141G	ENSP00000328415:E141G	E	-	2	0	MYOM3	24305135	0.607000	0.26958	1.000000	0.80357	0.465000	0.32709	0.333000	0.19768	2.036000	0.60181	0.379000	0.24179	GAG		0.637	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2		NM_152372	
NAGK	55577	broad.mit.edu;hgsc.bcm.edu	37	2	71299785	71299785	+	Missense_Mutation	SNP	A	A	G	rs560847516		TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr2:71299785A>G	ENST00000244204.6	+	5	432	c.370A>G	c.(370-372)Ata>Gta	p.I124V	NAGK_ENST00000443872.2_5'UTR|NAGK_ENST00000418807.3_Missense_Mutation_p.I73V|NAGK_ENST00000443938.2_Missense_Mutation_p.I124V|NAGK_ENST00000455662.2_Missense_Mutation_p.I170V|NAGK_ENST00000428360.2_3'UTR			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	124					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)	p.I124V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	AGTTGTGCTCATATCTGGAAC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											57.0	50.0	53.0					2																	71299785		2203	4300	6503	SO:0001583	missense	55577			AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.370A>G	2.37:g.71299785A>G	ENSP00000244204:p.Ile124Val	Somatic		WXS	Illumina HiSeq	Phase_I	B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	ENST00000244204.6	37		.	.	.	.	.	.	.	.	.	.	A	18.08	3.543074	0.65198	.	.	ENSG00000124357	ENST00000244204;ENST00000455662;ENST00000418807;ENST00000529236	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.44	4.29	0.51040	ATPase, BadF/BadG/BcrA/BcrD type (1);	0.050580	0.85682	D	0.000000	T	0.64382	0.2593	M	0.76002	2.32	0.58432	D	0.999999	D	0.69078	0.997	D	0.79108	0.992	T	0.63037	-0.6726	10	0.41790	T	0.15	-31.4071	9.2559	0.37584	0.9144:0.0:0.0856:0.0	.	124	Q9UJ70	NAGK_HUMAN	V	124;170;73;18	ENSP00000244204:I124V;ENSP00000389087:I170V;ENSP00000396070:I73V;ENSP00000431204:I18V	ENSP00000244204:I124V	I	+	1	0	NAGK	71153293	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	8.792000	0.91856	0.912000	0.36772	0.379000	0.24179	ATA		0.577	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1			
SLC9B1	150159	hgsc.bcm.edu	37	4	103822483	103822484	+	Frame_Shift_Del	DEL	AC	AC	-	rs3974499		TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr4:103822483_103822484delAC	ENST00000296422.7	-	12	1479_1480	c.1338_1339delGT	c.(1336-1341)gtgttafs	p.L447fs	SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	447					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AGAGGACCTAACACAGCCTGCA	0.386																																																	0																																										SO:0001589	frameshift_variant	0			AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1338_1339delGT	4.37:g.103822485_103822486delAC	ENSP00000296422:p.Leu447fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Frame_Shift_Del	DEL	ENST00000296422.7	37	CCDS34041.1																																																																																				0.386	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1		NM_139173	
NOS1	4842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	117768660	117768660	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr12:117768660A>G	ENST00000338101.4	-	1	219	c.215T>C	c.(214-216)tTg>tCg	p.L72S	NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000317775.6_Missense_Mutation_p.L72S|NOS1_ENST00000344089.3_Missense_Mutation_p.L72S			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.L72S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CAGGTCCACCAAGGGCCGGCC	0.622																																					Esophageal Squamous(162;1748 2599 51982 52956)												1	Substitution - Missense(1)	kidney(1)											38.0	42.0	41.0					12																	117768660		1990	4144	6134	SO:0001583	missense	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.215T>C	12.37:g.117768660A>G	ENSP00000337459:p.Leu72Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568900	0.86439	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.33438	1.41;1.41;1.41	4.89	4.89	0.63831	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.56863	0.2014	M	0.77406	2.37	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.63051	-0.6723	10	0.87932	D	0	-20.6539	14.7048	0.69183	1.0:0.0:0.0:0.0	.	72	P29475	NOS1_HUMAN	S	72	ENSP00000320758:L72S;ENSP00000339862:L72S;ENSP00000337459:L72S	ENSP00000320758:L72S	L	-	2	0	NOS1	116253043	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	8.728000	0.91484	2.060000	0.61445	0.449000	0.29647	TTG		0.622	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			
NRIP1	8204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	16338035	16338035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr21:16338035G>A	ENST00000400202.1	-	3	3191	c.2479C>T	c.(2479-2481)Caa>Taa	p.Q827*	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.Q827*|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.Q827*			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	827	Interaction with ZNF366.|Repression domain 3.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q827*(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TAACTATCTTGATTTTGTCTT	0.403																																																	1	Substitution - Nonsense(1)	kidney(1)											72.0	78.0	76.0					21																	16338035		2200	4299	6499	SO:0001587	stop_gained	8204			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2479C>T	21.37:g.16338035G>A	ENSP00000383063:p.Gln827*	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IWE8	Nonsense_Mutation	SNP	ENST00000400202.1	37	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	45	12.007173	0.99626	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	.	.	.	6.17	6.17	0.99709	.	0.471174	0.22440	N	0.060024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-3.9216	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	827	.	ENSP00000327213:Q827X	Q	-	1	0	NRIP1	15259906	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	6.820000	0.75267	2.941000	0.99782	0.655000	0.94253	CAA		0.403	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1		NM_003489	
NSMCE4A	54780	hgsc.bcm.edu;ucsc.edu	37	10	123730567	123730569	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr10:123730567_123730569delCTT	ENST00000369023.3	-	3	437_439	c.386_388delAAG	c.(385-390)gaagca>gca	p.E129del	NSMCE4A_ENST00000369017.5_In_Frame_Del_p.E129del|NSMCE4A_ENST00000489266.1_5'UTR|NSMCE4A_ENST00000538652.1_5'UTR	NM_001167865.1|NM_017615.2	NP_001161337.1|NP_060085.2	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)	129					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of response to DNA damage stimulus (GO:2001022)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				TCCAGGACTGCTTCTCTTGCTCG	0.399																																																	0																																										SO:0001651	inframe_deletion	54780			AF258584	CCDS7624.1	10q26.13	2007-05-17	2006-11-24	2006-11-24	ENSG00000107672	ENSG00000107672			25935	protein-coding gene	gene with protein product		612987	"""chromosome 10 open reading frame 86"""	C10orf86		15752197	Standard	NM_017615		Approved	FLJ20003, bA500G22.3, NSE4A	uc001lfs.3	Q9NXX6	OTTHUMG00000019180	ENST00000369023.3:c.386_388delAAG	10.37:g.123730567_123730569delCTT	ENSP00000358019:p.Glu129del	Somatic		WXS	Illumina HiSeq	Phase_I	Q5SQQ5|Q6P673|Q8WY66|Q9BS90	In_Frame_Del	DEL	ENST00000369023.3	37	CCDS7624.1																																																																																				0.399	NSMCE4A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050749.1		NM_017615	
OR5H15	403274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	97887843	97887843	+	Silent	SNP	A	A	G	rs377659479	byFrequency	TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr3:97887843A>G	ENST00000356526.2	+	1	300	c.300A>G	c.(298-300)caA>caG	p.Q100Q		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q100Q(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GCAAGATACAATTTTTTTCCA	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											160.0	152.0	155.0					3																	97887843		2203	4298	6501	SO:0001819	synonymous_variant	403274				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.300A>G	3.37:g.97887843A>G		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000356526.2	37	CCDS33799.1																																																																																				0.383	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			
OSBPL6	114880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179253841	179253841	+	Silent	SNP	C	C	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr2:179253841C>G	ENST00000190611.4	+	21	2638	c.2262C>G	c.(2260-2262)acC>acG	p.T754T	OSBPL6_ENST00000409631.1_Silent_p.T718T|OSBPL6_ENST00000392505.2_Silent_p.T779T|OSBPL6_ENST00000315022.2_Silent_p.T758T|OSBPL6_ENST00000359685.3_Silent_p.T718T|OSBPL6_ENST00000409045.3_Silent_p.T723T	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	754					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.T779T(1)|p.T754T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TCAGAAATACCAAAAGCAGTG	0.343																																																	2	Substitution - coding silent(2)	kidney(2)											123.0	106.0	112.0					2																	179253841		2203	4300	6503	SO:0001819	synonymous_variant	114880			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2262C>G	2.37:g.179253841C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	CCDS2277.1																																																																																				0.343	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2		NM_032523	
PAPSS2	9060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	89473886	89473886	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr10:89473886A>G	ENST00000361175.4	+	4	836	c.467A>G	c.(466-468)gAa>gGa	p.E156G	PAPSS2_ENST00000427144.2_Missense_Mutation_p.E160G|PAPSS2_ENST00000456849.1_Missense_Mutation_p.E156G	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	156					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)	p.E156G(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		AATATTTGTGAAAGCAGAGAC	0.423																																																	1	Substitution - Missense(1)	kidney(1)											101.0	110.0	107.0					10																	89473886		2203	4300	6503	SO:0001583	missense	9060			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.467A>G	10.37:g.89473886A>G	ENSP00000354436:p.Glu156Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.026581	0.93518	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.77489	-1.1;-1.1;-1.1	5.9	5.9	0.94986	Adenylylsulphate kinase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94135	0.8119	H	0.99851	4.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.989	D	0.96942	0.9688	10	0.87932	D	0	-31.795	16.3317	0.83023	1.0:0.0:0.0:0.0	.	156;156	O95340;O95340-2	PAPS2_HUMAN;.	G	156;156;160;155	ENSP00000354436:E156G;ENSP00000406157:E156G;ENSP00000397123:E160G	ENSP00000354436:E156G	E	+	2	0	PAPSS2	89463866	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.962000	0.93254	2.264000	0.75181	0.533000	0.62120	GAA		0.423	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			
PCDHA11	56138	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140248769	140248769	+	Silent	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr5:140248769G>A	ENST00000398640.2	+	1	81	c.81G>A	c.(79-81)ggG>ggA	p.G27G	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	27					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G27G(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGGTGGGGAGCGGCCAGC	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											65.0	76.0	72.0					5																	140248769		2202	4300	6502	SO:0001819	synonymous_variant	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.81G>A	5.37:g.140248769G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	CCDS47284.1																																																																																				0.622	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2		NM_018902	
PPP1R16A	84988	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145722670	145722670	+	Silent	SNP	C	C	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr8:145722670C>T	ENST00000292539.4	+	2	1010	c.93C>T	c.(91-93)gcC>gcT	p.A31A	CTD-2517M14.5_ENST00000569326.1_RNA|CTD-2517M22.14_ENST00000532766.1_RNA|PPP1R16A_ENST00000529009.1_3'UTR|PPP1R16A_ENST00000435887.1_Silent_p.A31A			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	31						plasma membrane (GO:0005886)		p.A31A(1)		NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGCGGCGCGCCCAGCAGGTGA	0.682																																																	1	Substitution - coding silent(1)	kidney(1)											35.0	32.0	33.0					8																	145722670		2195	4298	6493	SO:0001819	synonymous_variant	84988				CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.93C>T	8.37:g.145722670C>T		Somatic		WXS	Illumina HiSeq	Phase_I	D3DWM5	Silent	SNP	ENST00000292539.4	37	CCDS6429.1																																																																																				0.682	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1		NM_032902	
PRKAG2	51422	hgsc.bcm.edu;ucsc.edu	37	7	151265857	151265862	+	In_Frame_Del	DEL	CCACTG	CCACTG	-			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	CCACTG	CCACTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr7:151265857_151265862delCCACTG	ENST00000287878.4	-	11	1677_1682	c.1173_1178delCAGTGG	c.(1171-1179)atcagtggg>atg	p.391_393ISG>M	PRKAG2_ENST00000492843.1_In_Frame_Del_p.267_269ISG>M|PRKAG2_ENST00000433631.2_In_Frame_Del_p.266_268ISG>M|PRKAG2_ENST00000418337.2_In_Frame_Del_p.150_152ISG>M|PRKAG2_ENST00000392801.2_In_Frame_Del_p.347_349ISG>M	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	391	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	AAGTGCATTCCCACTGATAGGGTCAA	0.374																																																	0																																										SO:0001651	inframe_deletion	51422			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1173_1178delCAGTGG	7.37:g.151265857_151265862delCCACTG	ENSP00000287878:p.Ile391_Gly393delinsMet	Somatic		WXS	Illumina HiSeq	Phase_I	Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	In_Frame_Del	DEL	ENST00000287878.4	37	CCDS5928.1																																																																																				0.374	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2		NM_016203	
PSMB4	5692	hgsc.bcm.edu;ucsc.edu	37	1	151372944	151372945	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr1:151372944_151372945insT	ENST00000290541.6	+	3	428_429	c.374_375insT	c.(373-378)ggacacfs	p.H126fs		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	126					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGGAGATGGACACAGCTATA	0.495																																																	0																																										SO:0001589	frameshift_variant	5692			D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"""Proteasome (prosome, macropain) subunits"""	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	Exception_encountered	1.37:g.151372944_151372945insT	ENSP00000290541:p.His126fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Frame_Shift_Ins	INS	ENST00000290541.6	37	CCDS996.1																																																																																				0.495	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1		NM_002796	
SCML1	6322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	17768309	17768309	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chrX:17768309G>T	ENST00000380041.3	+	6	927	c.599G>T	c.(598-600)gGt>gTt	p.G200V	SCML1_ENST00000398080.1_Missense_Mutation_p.G79V|SCML1_ENST00000380043.3_Missense_Mutation_p.G173V|SCML1_ENST00000380045.3_Missense_Mutation_p.G79V	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	200					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G79V(1)|p.G200V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					GCATCTGATGGTGCAACGTAT	0.542																																																	2	Substitution - Missense(2)	kidney(2)											124.0	100.0	108.0					X																	17768309		2203	4300	6503	SO:0001583	missense	6322				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.599G>T	X.37:g.17768309G>T	ENSP00000369380:p.Gly200Val	Somatic		WXS	Illumina HiSeq	Phase_I	B0FZN6|B2RA08|Q5H968|Q5H969	Missense_Mutation	SNP	ENST00000380041.3	37	CCDS35210.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920994	0.33908	.	.	ENSG00000047634	ENST00000380045;ENST00000380041;ENST00000380043;ENST00000398080	.	.	.	3.51	1.03	0.20045	.	2.368570	0.01976	N	0.044461	T	0.16214	0.0390	N	0.14661	0.345	0.09310	N	1	P;P	0.45827	0.867;0.791	B;B	0.37508	0.252;0.128	T	0.10543	-1.0625	9	0.26408	T	0.33	-0.9745	2.8818	0.05649	0.5877:0.2605:0.1518:0.0	.	173;200	Q9UN30-2;Q9UN30	.;SCML1_HUMAN	V	79;200;173;79	.	ENSP00000369380:G200V	G	+	2	0	SCML1	17678230	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.483000	0.22292	0.107000	0.17824	-0.340000	0.08031	GGT		0.542	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5		NM_006746	
RPGR	6103	broad.mit.edu;ucsc.edu	37	X	38182653	38182653	+	Splice_Site	SNP	G	G	A	rs201242851		TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chrX:38182653G>A	ENST00000339363.3	-	2	320	c.153C>T	c.(151-153)acC>acT	p.T51T	RPGR_ENST00000338898.3_Splice_Site_p.T51T|RPGR_ENST00000309513.3_Splice_Site_p.T51T|RPGR_ENST00000378505.2_Splice_Site_p.T51T|RPGR_ENST00000342811.3_Splice_Site_p.T51T|RPGR_ENST00000318842.7_Splice_Site_p.T51T|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	51					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)	p.T51T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						AATACTAACCGGTAACAACAG	0.303																																																	2	Substitution - coding silent(2)	kidney(2)						G	,	0,3833		0,0,0,1631,571	47.0	40.0	42.0		153,153	0.3	0.9	X		42	1,6725		0,0,1,2428,1869	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	RPGR	NM_000328.2,NM_001034853.1	,	0,0,1,4059,2440	AA,AG,A,GG,G		0.0149,0.0,0.0095	,	51/816,51/1153	38182653	1,10558	2202	4298	6500	SO:0001630	splice_region_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.154+1C>T	X.37:g.38182653G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Silent	SNP	ENST00000339363.3	37																																																																																					0.303	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_000328	Silent
SIN3A	25942	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75682103	75682103	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr15:75682103C>A	ENST00000394947.3	-	16	3225	c.2911G>T	c.(2911-2913)Gat>Tat	p.D971Y	SIN3A_ENST00000394949.4_Missense_Mutation_p.D971Y|SIN3A_ENST00000360439.4_Missense_Mutation_p.D971Y	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.D971Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ATGTTGCCATCCAGCAGGCTC	0.468																																																	1	Substitution - Missense(1)	kidney(1)											192.0	157.0	169.0					15																	75682103		2197	4294	6491	SO:0001583	missense	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2911G>T	15.37:g.75682103C>A	ENSP00000378402:p.Asp971Tyr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000394947.3	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969010	0.92855	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.52983	0.64;0.64;0.64	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.79193	-0.1904	10	0.87932	D	0	-24.6198	18.9999	0.92829	0.0:1.0:0.0:0.0	.	971	Q96ST3	SIN3A_HUMAN	Y	971	ENSP00000378402:D971Y;ENSP00000378403:D971Y;ENSP00000353622:D971Y	ENSP00000353622:D971Y	D	-	1	0	SIN3A	73469156	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.758000	0.85224	2.742000	0.94016	0.650000	0.86243	GAT		0.468	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1		NM_015477	
SLC22A16	85413	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	110763747	110763747	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr6:110763747G>T	ENST00000368919.3	-	4	949	c.883C>A	c.(883-885)Ctt>Att	p.L295I	SLC22A16_ENST00000439654.1_Missense_Mutation_p.L295I|RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000330550.4_Missense_Mutation_p.L261I	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	295					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)	p.L295I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	TCTGAGAGAAGCCAAAAAGGT	0.473																																																	1	Substitution - Missense(1)	kidney(1)											98.0	98.0	98.0					6																	110763747		2203	4300	6503	SO:0001583	missense	85413				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.883C>A	6.37:g.110763747G>T	ENSP00000357915:p.Leu295Ile	Somatic		WXS	Illumina HiSeq	Phase_I	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976911	0.74360	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378	T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	4.78	4.78	0.61160	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	H	0.96916	3.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.95093	0.8223	10	0.72032	D	0.01	.	18.1444	0.89651	0.0:0.0:1.0:0.0	.	295;261	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	I	295;212;261;295;125;252	ENSP00000357915:L295I;ENSP00000395642:L212I;ENSP00000328583:L261I;ENSP00000408799:L295I;ENSP00000409306:L125I;ENSP00000416310:L252I	ENSP00000328583:L261I	L	-	1	0	SLC22A16	110870440	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.555000	0.60767	2.346000	0.79739	0.655000	0.94253	CTT		0.473	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1		NM_033125	
SLIT2	9353	broad.mit.edu	37	4	20490577	20490577	+	Silent	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr4:20490577G>A	ENST00000504154.1	+	8	999	c.747G>A	c.(745-747)gaG>gaA	p.E249E	SLIT2_ENST00000503823.1_Silent_p.E249E|SLIT2_ENST00000273739.5_Silent_p.E249E|SLIT2_ENST00000503837.1_Silent_p.E249E	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	249	LRRCT 1.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.E249E(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATGTAGCCGAGGTTCAAAAAC	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											158.0	152.0	154.0					4																	20490577		2203	4300	6503	SO:0001819	synonymous_variant	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.747G>A	4.37:g.20490577G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	CCDS3426.1																																																																																				0.502	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			
SLITRK3	22865	broad.mit.edu;hgsc.bcm.edu	37	3	164907318	164907318	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr3:164907318A>G	ENST00000475390.1	-	2	1744	c.1301T>C	c.(1300-1302)tTg>tCg	p.L434S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L434S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	434					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.L434S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAAGAGATCCAAGGAAGAAAA	0.408										HNSCC(40;0.11)																																							1	Substitution - Missense(1)	kidney(1)											46.0	48.0	47.0					3																	164907318		2203	4300	6503	SO:0001583	missense	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1301T>C	3.37:g.164907318A>G	ENSP00000420091:p.Leu434Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233446	0.58886	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	D;D	0.82711	-1.64;-1.64	5.58	5.58	0.84498	.	0.000000	0.30723	N	0.009007	D	0.94974	0.8374	H	0.98786	4.33	0.53005	D	0.999967	D	0.76494	0.999	D	0.87578	0.998	D	0.96953	0.9696	10	0.87932	D	0	-9.9568	15.5903	0.76523	1.0:0.0:0.0:0.0	.	434	O94933	SLIK3_HUMAN	S	434	ENSP00000420091:L434S;ENSP00000241274:L434S	ENSP00000241274:L434S	L	-	2	0	SLITRK3	166390012	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.139000	0.94554	2.343000	0.79666	0.533000	0.62120	TTG		0.408	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1		NM_014926	
TRIM51	84767	broad.mit.edu;ucsc.edu	37	11	55653066	55653066	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr11:55653066A>T	ENST00000449290.2	+	2	254	c.162A>T	c.(160-162)gaA>gaT	p.E54D	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	54						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E54D(1)									AGTGCTCTGAATGCAAGAAGA	0.502																																																	1	Substitution - Missense(1)	kidney(1)											47.0	39.0	41.0					11																	55653066		692	1591	2283	SO:0001583	missense	0			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.162A>T	11.37:g.55653066A>T	ENSP00000395086:p.Glu54Asp	Somatic		WXS	Illumina GAIIx	Phase_I	A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37		.	.	.	.	.	.	.	.	.	.	.	5.821	0.335810	0.11013	.	.	ENSG00000124900	ENST00000449290	T	0.08896	3.04	0.803	0.803	0.18691	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.06462	0.0166	L	0.43646	1.37	0.28345	N	0.921156	B	0.27013	0.166	B	0.25759	0.063	T	0.33266	-0.9875	9	0.33141	T	0.24	.	2.8746	0.05627	0.6803:0.0:0.3197:0.0	.	54	Q9BSJ1	SPRY5_HUMAN	D	54	ENSP00000395086:E54D	ENSP00000395086:E54D	E	+	3	2	SPRYD5	55409642	0.599000	0.26891	0.012000	0.15200	0.040000	0.13550	0.359000	0.20233	0.624000	0.30286	0.128000	0.15822	GAA		0.502	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1		NM_032681	
SLC3A2	6520	broad.mit.edu;hgsc.bcm.edu	37	11	62621378	62621378	+	5'Flank	SNP	T	T	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr11:62621378T>G	ENST00000377890.2	+	0	0				SNHG1_ENST00000384706.1_RNA|SNHG1_ENST00000516331.1_RNA|SNHG1_ENST00000384756.1_RNA|SNHG1_ENST00000364799.1_RNA|SLC3A2_ENST00000535296.1_5'Flank|SLC3A2_ENST00000377891.2_5'Flank|SLC3A2_ENST00000377892.1_5'Flank|SNHG1_ENST00000384693.1_RNA|SNHG1_ENST00000363981.1_RNA|SLC3A2_ENST00000377889.2_5'Flank|SNHG1_ENST00000365607.1_RNA|SNHG1_ENST00000384147.1_RNA|SNHG1_ENST00000383926.1_RNA	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GTTCTCCAGTTTCTCAGGTGT	0.433																																																	0													127.0	118.0	121.0					11																	62621378		874	1990	2864	SO:0001631	upstream_gene_variant	23642				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091		11.37:g.62621378T>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	Q13543	RNA	SNP	ENST00000377890.2	37	CCDS8039.2																																																																																				0.433	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1		NM_001012661	
STAG3	10734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99811404	99811404	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr7:99811404T>C	ENST00000426455.1	+	33	4051	c.3644T>C	c.(3643-3645)tTa>tCa	p.L1215S	GATS_ENST00000436886.2_Intron|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.L1157S|STAG3_ENST00000317296.5_Missense_Mutation_p.L1215S	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1215					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.L1215S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGACCTCTTAGATTCTACA	0.488																																																	1	Substitution - Missense(1)	kidney(1)											122.0	115.0	117.0					7																	99811404		2203	4300	6503	SO:0001583	missense	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.3644T>C	7.37:g.99811404T>C	ENSP00000400359:p.Leu1215Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	t	20.2	3.941779	0.73557	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000379577;ENST00000317296;ENST00000412190	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.0	5.0	0.66597	.	0.000000	0.30791	N	0.008863	T	0.42765	0.1217	L	0.60455	1.87	0.80722	D	1	P;P;P	0.52316	0.917;0.952;0.952	P;P;P	0.49140	0.502;0.601;0.601	T	0.43556	-0.9384	10	0.87932	D	0	-8.0025	11.2685	0.49124	0.0:0.0:0.0:1.0	.	1157;1216;1215	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	S	1215;1157;878;236;1215;174	ENSP00000400359:L1215S;ENSP00000377586:L1157S;ENSP00000319318:L1215S;ENSP00000395039:L174S	ENSP00000319318:L1215S	L	+	2	0	STAG3	99649340	1.000000	0.71417	0.996000	0.52242	0.915000	0.54546	3.235000	0.51328	2.212000	0.71576	0.533000	0.62120	TTA		0.488	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2		NM_012447	
SYNJ1	8867	broad.mit.edu;hgsc.bcm.edu	37	21	34066598	34066598	+	Silent	SNP	A	A	T			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr21:34066598A>T	ENST00000322229.7	-	5	728	c.729T>A	c.(727-729)gtT>gtA	p.V243V	SYNJ1_ENST00000382499.2_Silent_p.V282V|SYNJ1_ENST00000433931.2_Silent_p.V282V|SYNJ1_ENST00000357345.3_Silent_p.V243V|SYNJ1_ENST00000382491.3_Silent_p.V243V			O43426	SYNJ1_HUMAN	synaptojanin 1	243	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.V243V(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TGAAGGAAGAAACTGAGTCAT	0.318																																																	1	Substitution - coding silent(1)	kidney(1)											63.0	61.0	61.0					21																	34066598		2203	4300	6503	SO:0001819	synonymous_variant	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.729T>A	21.37:g.34066598A>T		Somatic		WXS	Illumina HiSeq	Phase_I	O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	CCDS54484.1																																																																																				0.318	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				
TBC1D15	64786	broad.mit.edu;hgsc.bcm.edu	37	12	72274276	72274276	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr12:72274276C>G	ENST00000550746.1	+	4	296	c.232C>G	c.(232-234)Cag>Gag	p.Q78E	TBC1D15_ENST00000319106.8_Missense_Mutation_p.Q86E|TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Missense_Mutation_p.Q78E	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	78					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)	p.Q86E(1)|p.Q78E(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGAATGGACTCAGGCCCCAAA	0.328																																																	2	Substitution - Missense(2)	kidney(2)											38.0	34.0	36.0					12																	72274276		2203	4300	6503	SO:0001583	missense	64786			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.232C>G	12.37:g.72274276C>G	ENSP00000448182:p.Gln78Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027305	0.35797	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960	T;T;T	0.05580	3.43;3.42;3.42	5.92	5.92	0.95590	Domain of unknown function DUF3548 (1);	0.173092	0.52532	D	0.000074	T	0.06826	0.0174	N	0.24115	0.695	0.80722	D	1	B;B;B	0.31752	0.336;0.338;0.017	B;B;B	0.39531	0.302;0.276;0.022	T	0.09975	-1.0650	10	0.02654	T	1	-8.6834	18.4977	0.90870	0.0:1.0:0.0:0.0	.	86;78;78	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	E	78;86;78	ENSP00000448182:Q78E;ENSP00000318262:Q86E;ENSP00000420678:Q78E	ENSP00000318262:Q86E	Q	+	1	0	TBC1D15	70560543	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.558000	0.73942	2.801000	0.96364	0.650000	0.86243	CAG		0.328	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2		NM_022771	
SMG1P7	100506060	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	A	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr16:70268158A>C	ENST00000459379.1	-	0	0																											TTCTTCATTAAAACAGCTACT	0.333																																																	0																																												0																															16.37:g.70268158A>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000459379.1	37																																																																																					0.333	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
USHBP1	83878	broad.mit.edu	37	19	17370531	17370531	+	Missense_Mutation	SNP	G	G	T	rs150046287	byFrequency	TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr19:17370531G>T	ENST00000252597.3	-	6	952	c.779C>A	c.(778-780)tCc>tAc	p.S260Y	USHBP1_ENST00000598570.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.S196Y	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.S260Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GTGAGCCAGGGAGAAGGAGTC	0.557																																																	1	Substitution - Missense(1)	kidney(1)											65.0	69.0	68.0					19																	17370531		2203	4300	6503	SO:0001583	missense	83878			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.779C>A	19.37:g.17370531G>T	ENSP00000252597:p.Ser260Tyr	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000252597.3	37	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108569	0.37242	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.22945	1.94;1.93	4.7	4.7	0.59300	.	0.372510	0.23327	N	0.049382	T	0.33818	0.0876	L	0.34521	1.04	0.09310	N	1	B;D;P	0.67145	0.39;0.996;0.845	B;P;B	0.57371	0.069;0.819;0.445	T	0.09185	-1.0686	10	0.62326	D	0.03	-6.7995	13.8493	0.63487	0.0:0.0:1.0:0.0	.	196;260;260	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	Y	260;196;260	ENSP00000252597:S260Y;ENSP00000407902:S196Y	ENSP00000252597:S260Y	S	-	2	0	USHBP1	17231531	0.004000	0.15560	0.009000	0.14445	0.441000	0.31987	1.440000	0.35024	2.545000	0.85829	0.655000	0.94253	TCC		0.557	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1		NM_031941	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188240	10188240	+	Missense_Mutation	SNP	T	T	A	rs5030649		TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr3:10188240T>A	ENST00000256474.2	+	2	1223	c.383T>A	c.(382-384)cTt>cAt	p.L128H	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	128	Involved in binding to CCT complex.		L -> F (in VHLD; type II).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L128H(4)|p.L128P(4)|p.L128R(2)|p.H125fs*27(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CACGATGGGCTTCTGGTTAAC	0.488		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	11	Substitution - Missense(10)|Deletion - Frameshift(1)	kidney(11)	GRCh37	CM040270	VHL	M							204.0	188.0	194.0					3																	10188240		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.383T>A	3.37:g.10188240T>A	ENSP00000256474:p.Leu128His	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.697069	0.48202	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99848	-7.14	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.070012	0.64402	D	0.000019	D	0.99739	0.9897	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97011	0.9736	10	0.87932	D	0	-11.7092	13.0887	0.59156	0.0:0.0:0.0:1.0	.	128	P40337	VHL_HUMAN	H	128;46	ENSP00000256474:L128H	ENSP00000256474:L128H	L	+	2	0	VHL	10163240	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	5.965000	0.70387	2.047000	0.60756	0.460000	0.39030	CTT		0.488	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VIL1	7429	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219296898	219296898	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr2:219296898G>A	ENST00000248444.5	+	12	1421	c.1333G>A	c.(1333-1335)Gtt>Att	p.V445I	VIL1_ENST00000392114.2_Missense_Mutation_p.V134I	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	445	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.V445I(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCTCTACGTTTGGCAGGT	0.572																																																	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											63.0	48.0	53.0					2																	219296898		2203	4300	6503	SO:0001583	missense	7429			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1333G>A	2.37:g.219296898G>A	ENSP00000248444:p.Val445Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	0.704	-0.789587	0.02884	.	.	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.56275	0.47;0.47	5.06	2.51	0.30379	Gelsolin domain (1);	0.145729	0.45361	N	0.000371	T	0.13970	0.0338	N	0.00254	-1.765	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.06679	-1.0813	10	0.10377	T	0.69	-20.7769	7.6321	0.28245	0.7858:0.1398:0.0744:0.0	.	445	P09327	VILI_HUMAN	I	445;134	ENSP00000248444:V445I;ENSP00000375962:V134I	ENSP00000248444:V445I	V	+	1	0	VIL1	219005142	1.000000	0.71417	0.999000	0.59377	0.201000	0.24016	2.981000	0.49329	0.781000	0.33589	-0.427000	0.05922	GTT		0.572	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3		NM_007127	
YME1L1	10730	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	27437878	27437878	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr10:27437878T>C	ENST00000326799.3	-	2	273	c.125A>G	c.(124-126)cAg>cGg	p.Q42R	YME1L1_ENST00000375972.3_Missense_Mutation_p.Q42R|YME1L1_ENST00000477432.1_Missense_Mutation_p.Q42R|YME1L1_ENST00000376016.3_Missense_Mutation_p.Q42R	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	42					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.Q42R(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATCTCGATGCTGGTTTTGAGA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											207.0	206.0	206.0					10																	27437878		2203	4300	6503	SO:0001583	missense	10730			AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.125A>G	10.37:g.27437878T>C	ENSP00000318480:p.Gln42Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.347332	0.24426	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000427324;ENST00000396296	D;D;D	0.92699	-3.05;-3.09;-3.03	5.49	4.31	0.51392	Peptidase M41, FtsH (1);	0.966706	0.08606	N	0.920779	D	0.86539	0.5957	N	0.14661	0.345	0.29770	N	0.834858	B;P;B;B	0.43352	0.001;0.804;0.0;0.001	B;P;B;B	0.45946	0.004;0.498;0.0;0.002	T	0.80303	-0.1439	10	0.40728	T	0.16	-0.9431	6.3226	0.21227	0.2567:0.0:0.1173:0.626	.	42;42;42;42	B4DNM1;Q6PJ89;Q96TA2-2;Q96TA2	.;.;.;YMEL1_HUMAN	R	42;42;42;42;42;34	ENSP00000365184:Q42R;ENSP00000318480:Q42R;ENSP00000365139:Q42R	ENSP00000318480:Q42R	Q	-	2	0	YME1L1	27477884	0.982000	0.34865	1.000000	0.80357	0.846000	0.48090	2.273000	0.43381	2.086000	0.62901	0.533000	0.62120	CAG		0.423	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1		NM_139312	
ZNF711	7552	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	84510342	84510342	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chrX:84510342G>A	ENST00000373165.3	+	4	463	c.157G>A	c.(157-159)Gat>Aat	p.D53N	ZNF711_ENST00000542798.1_5'Flank|ZNF711_ENST00000360700.4_Missense_Mutation_p.D53N|ZNF711_ENST00000276123.3_Missense_Mutation_p.D53N|ZNF711_ENST00000395402.1_Missense_Mutation_p.D31N	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	53					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.D33N(2)|p.D53N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TTTAGTTTCTGATGTTGTCAC	0.413																																																	3	Substitution - Missense(3)	kidney(2)|large_intestine(1)											232.0	179.0	197.0					X																	84510342		2203	4300	6503	SO:0001583	missense	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.157G>A	X.37:g.84510342G>A	ENSP00000362260:p.Asp53Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565369	0.86439	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700	T;T;T;T	0.15017	2.73;2.46;2.46;2.7	4.94	4.94	0.65067	.	0.000000	0.45126	D	0.000394	T	0.34048	0.0884	L	0.44542	1.39	0.80722	D	1	D;P	0.67145	0.996;0.941	D;P	0.68039	0.955;0.515	T	0.04678	-1.0934	10	0.51188	T	0.08	-10.665	17.3849	0.87413	0.0:0.0:1.0:0.0	.	53;53	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	N	31;53;53;53	ENSP00000378798:D31N;ENSP00000362260:D53N;ENSP00000276123:D53N;ENSP00000353922:D53N	ENSP00000276123:D53N	D	+	1	0	ZNF711	84396998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.029000	0.59856	0.550000	0.68814	GAT		0.413	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2		NM_021998	
ZNF789	285989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99084910	99084910	+	Silent	SNP	T	T	C			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr7:99084910T>C	ENST00000331410.5	+	5	1347	c.1077T>C	c.(1075-1077)caT>caC	p.H359H	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H359H(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCATTCAGCATCAAAGAATCC	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											127.0	122.0	124.0					7																	99084910		2203	4300	6503	SO:0001819	synonymous_variant	285989			AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.1077T>C	7.37:g.99084910T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A4D282|A6NH61|Q6ZMZ9	Silent	SNP	ENST00000331410.5	37	CCDS34693.1																																																																																				0.398	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1		NM_213603	
ZNF833P	401898	broad.mit.edu	37	19	11762663	11762663	+	lincRNA	SNP	G	G	A			TCGA-B0-5088-01A-01D-1462-08	TCGA-B0-5088-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e56245d6-c681-44e0-9eb2-504bee3e1b32	2543d48c-413b-4ff9-8dc3-125a19829056	g.chr19:11762663G>A	ENST00000344893.3	+	0	675					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						GACACAAACCGTATGAGTGTC	0.458																																																	0																																												0			BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11762663G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B2RPA0	RNA	SNP	ENST00000344893.3	37																																																																																					0.458	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000458891.1		NM_001013691	
