#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACTL9	284382	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8807902	8807902	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr19:8807902C>T	ENST00000324436.3	-	1	1270	c.1150G>A	c.(1150-1152)Ggc>Agc	p.G384S		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	384						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G384S(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGGATGGAGCCCCCGATCCAT	0.652																																																	1	Substitution - Missense(1)	kidney(1)											34.0	37.0	36.0					19																	8807902		2203	4299	6502	SO:0001583	missense	284382				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1150G>A	19.37:g.8807902C>T	ENSP00000316674:p.Gly384Ser		A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	c	25.5	4.647067	0.87958	.	.	ENSG00000181786	ENST00000324436	D	0.97688	-4.49	4.51	4.51	0.55191	.	0.000000	0.43579	U	0.000557	D	0.98823	0.9603	M	0.89478	3.035	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.99517	1.0957	10	0.87932	D	0	.	16.3263	0.82983	0.0:1.0:0.0:0.0	.	384	Q8TC94	ACTL9_HUMAN	S	384	ENSP00000316674:G384S	ENSP00000316674:G384S	G	-	1	0	ACTL9	8668902	1.000000	0.71417	0.996000	0.52242	0.564000	0.35744	7.158000	0.77470	2.507000	0.84556	0.457000	0.33378	GGC		0.652	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1		NM_178525	
ADAMTS7	11173	broad.mit.edu	37	15	79090324	79090324	+	Silent	SNP	A	A	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr15:79090324A>C	ENST00000388820.4	-	3	798	c.588T>G	c.(586-588)ggT>ggG	p.G196G	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	196					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G196G(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CACTGGAATCACCCCGCTGTG	0.647																																																	1	Substitution - coding silent(1)	kidney(1)											60.0	60.0	60.0					15																	79090324		2196	4293	6489	SO:0001819	synonymous_variant	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.588T>G	15.37:g.79090324A>C			Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	CCDS32303.1																																																																																				0.647	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1		NM_014272	
AGBL1	123624	broad.mit.edu;ucsc.edu	37	15	87066159	87066159	+	Silent	SNP	C	C	A	rs371874943		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr15:87066159C>A	ENST00000441037.2	+	18	2631	c.2536C>A	c.(2536-2538)Cga>Aga	p.R846R	AGBL1_ENST00000389298.3_Silent_p.R577R|AGBL1_ENST00000421325.2_Silent_p.R846R	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	846					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.R846R(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAGCATTGGCCGAAGTCCCGT	0.527																																																	1	Substitution - coding silent(1)	kidney(1)											185.0	179.0	181.0					15																	87066159		2052	4207	6259	SO:0001819	synonymous_variant	123624			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2536C>A	15.37:g.87066159C>A			A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	CCDS58398.1																																																																																				0.527	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5		NM_152336	
AGRN	375790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	985343	985343	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:985343C>A	ENST00000379370.2	+	27	4855	c.4805C>A	c.(4804-4806)cCc>cAc	p.P1602H		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1602	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)	p.P1602H(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGGGCGGCGCCCTGCCGTGTG	0.711																																																	1	Substitution - Missense(1)	kidney(1)											20.0	22.0	21.0					1																	985343		2189	4263	6452	SO:0001583	missense	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.4805C>A	1.37:g.985343C>A	ENSP00000368678:p.Pro1602His		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138737	0.37728	.	.	ENSG00000188157	ENST00000379370	T	0.75154	-0.91	4.8	4.8	0.61643	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.628072	0.14190	U	0.335381	T	0.59348	0.2187	N	0.03194	-0.395	0.33438	D	0.581989	D	0.62365	0.991	P	0.46975	0.533	T	0.65894	-0.6057	10	0.22109	T	0.4	-22.8058	17.4311	0.87539	0.0:1.0:0.0:0.0	.	1602	O00468	AGRIN_HUMAN	H	1602	ENSP00000368678:P1602H	ENSP00000368678:P1602H	P	+	2	0	AGRN	975206	1.000000	0.71417	0.998000	0.56505	0.066000	0.16364	4.368000	0.59505	2.216000	0.71823	0.486000	0.48141	CCC		0.711	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2		NM_198576	
AMBRA1	55626	hgsc.bcm.edu;ucsc.edu	37	11	46439573	46439574	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:46439573_46439574delAG	ENST00000458649.2	-	15	3423_3424	c.3005_3006delCT	c.(3004-3006)cctfs	p.P1002fs	AMBRA1_ENST00000528950.1_Frame_Shift_Del_p.P973fs|AMBRA1_ENST00000298834.3_Frame_Shift_Del_p.P942fs|AMBRA1_ENST00000314845.3_Frame_Shift_Del_p.P912fs|AMBRA1_ENST00000426438.1_Frame_Shift_Del_p.P973fs|AMBRA1_ENST00000533727.1_Frame_Shift_Del_p.P883fs|AMBRA1_ENST00000534300.1_Frame_Shift_Del_p.P942fs			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1002					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCTGGTCGGCAGGCATGGGATA	0.475																																																	0																																										SO:0001589	frameshift_variant	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3005_3006delCT	11.37:g.46439573_46439574delAG	ENSP00000415327:p.Pro1002fs		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Frame_Shift_Del	DEL	ENST00000458649.2	37																																																																																					0.475	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1		NM_017749	
ANK3	288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	62039296	62039296	+	Splice_Site	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr10:62039296C>G	ENST00000280772.2	-	2	407	c.216G>C	c.(214-216)caG>caC	p.Q72H	ANK3_ENST00000503366.1_Splice_Site_p.Q55H|ANK3_ENST00000373827.2_Splice_Site_p.Q66H	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	72					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.Q72H(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCCAGCTAACCTGATTGCAAA	0.363																																																	1	Substitution - Missense(1)	kidney(1)											112.0	125.0	120.0					10																	62039296		2203	4300	6503	SO:0001630	splice_region_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.216+1G>C	10.37:g.62039296C>G			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.991182	0.54041	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000503925	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.22	3.39	0.38822	Ankyrin repeat-containing domain (3);	0.000000	0.40064	N	0.001198	T	0.63546	0.2520	N	0.25094	0.71	0.80722	D	1	P;D;D	0.89917	0.826;1.0;0.999	P;D;D	0.97110	0.524;1.0;0.998	T	0.59418	-0.7458	9	.	.	.	.	10.3049	0.43674	0.1356:0.7947:0.0:0.0697	.	55;66;72	E9PE32;Q5CZH9;Q12955	.;.;ANK3_HUMAN	H	72;66;55;34;46	ENSP00000280772:Q72H;ENSP00000362933:Q66H;ENSP00000425236:Q55H;ENSP00000426011:Q46H	.	Q	-	3	2	ANK3	61709302	1.000000	0.71417	0.999000	0.59377	0.424000	0.31475	3.894000	0.56250	0.797000	0.33971	-0.127000	0.14921	CAG		0.363	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987	Missense_Mutation
ANKRD11	29123	broad.mit.edu	37	16	89345631	89345631	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr16:89345631T>G	ENST00000301030.4	-	9	7779	c.7319A>C	c.(7318-7320)gAa>gCa	p.E2440A	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E2440A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2440					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E2440A(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGCAGGTATTCGAAGTAGGG	0.612																																																	1	Substitution - Missense(1)	kidney(1)											33.0	30.0	31.0					16																	89345631		2197	4278	6475	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7319A>C	16.37:g.89345631T>G	ENSP00000301030:p.Glu2440Ala		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	t	20.0	3.930144	0.73327	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.42513	0.97;0.97	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000005	T	0.65565	0.2703	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70691	-0.4802	10	0.72032	D	0.01	.	14.8198	0.70062	0.0:0.0:0.0:1.0	.	2440	Q6UB99	ANR11_HUMAN	A	2440	ENSP00000301030:E2440A;ENSP00000367581:E2440A	ENSP00000301030:E2440A	E	-	2	0	ANKRD11	87873132	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	7.922000	0.87538	1.913000	0.55393	0.248000	0.18094	GAA		0.612	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3		NM_013275	
AP3M1	26985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75884279	75884279	+	Silent	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr10:75884279G>A	ENST00000355264.4	-	8	1326	c.1015C>T	c.(1015-1017)Cta>Tta	p.L339L	AP3M1_ENST00000372745.1_Silent_p.L339L	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	339	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)	p.L339L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					TCCCATGTTAGTACCTTAAAA	0.348																																																	1	Substitution - coding silent(1)	kidney(1)											50.0	48.0	49.0					10																	75884279		2203	4300	6503	SO:0001819	synonymous_variant	26985			AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.1015C>T	10.37:g.75884279G>A			Q5JQ12|Q9H5L2	Silent	SNP	ENST00000355264.4	37	CCDS7342.1																																																																																				0.348	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			
APOBR	55911	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28508786	28508786	+	Silent	SNP	A	A	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr16:28508786A>G	ENST00000431282.1	+	3	2407	c.2397A>G	c.(2395-2397)gaA>gaG	p.E799E	APOBR_ENST00000328423.5_Silent_p.E799E|CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000564831.1_Silent_p.E808E			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	799	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)	p.E799E(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GTGGGCAAGAATTTGGTCTGG	0.597																																																	1	Substitution - coding silent(1)	kidney(1)											38.0	44.0	42.0					16																	28508786		2060	4203	6263	SO:0001819	synonymous_variant	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.2397A>G	16.37:g.28508786A>G			H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	ENST00000431282.1	37																																																																																					0.597	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_182804	
APOH	350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	64222147	64222147	+	Splice_Site	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr17:64222147C>T	ENST00000205948.6	-	3	374	c.337G>A	c.(337-339)Ggg>Agg	p.G113R		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	113	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)	p.G113R(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			AGTTCTTACCCAGTGTTACAA	0.383																																					Melanoma(155;624 1882 16869 48804 51309)												1	Substitution - Missense(1)	kidney(1)											101.0	91.0	94.0					17																	64222147		2203	4300	6503	SO:0001630	splice_region_variant	350				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.338+1G>A	17.37:g.64222147C>T			B2R9M3|Q9UCN7	Missense_Mutation	SNP	ENST00000205948.6	37	CCDS11663.1	.	.	.	.	.	.	.	.	.	.	c	8.686	0.906252	0.17760	.	.	ENSG00000091583	ENST00000205948	T	0.76709	-1.04	5.55	5.55	0.83447	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	H	0.94698	3.57	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.93146	0.6545	10	0.87932	D	0	.	15.0313	0.71708	0.0:1.0:0.0:0.0	.	113	P02749	APOH_HUMAN	R	113	ENSP00000205948:G113R	ENSP00000205948:G113R	G	-	1	0	APOH	61652609	0.993000	0.37304	0.958000	0.39756	0.028000	0.11728	3.992000	0.56980	2.611000	0.88343	0.563000	0.77884	GGG		0.383	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1		NM_000042	Missense_Mutation
AQP7	364	hgsc.bcm.edu	37	9	33395103	33395103	+	Silent	SNP	G	G	A	rs148012859		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr9:33395103G>A	ENST00000539936.1	-	3	355	c.117C>T	c.(115-117)gcC>gcT	p.A39A	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000537089.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	39					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)	p.A39A(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TCATGAACTCGGCCAGGAACT	0.582																																																	1	Substitution - coding silent(1)	prostate(1)											126.0	85.0	99.0					9																	33395103		2203	4300	6503	SO:0001819	synonymous_variant	364			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000539936.1:c.117C>T	9.37:g.33395103G>A			Q08E94|Q5T5L9|Q8NHM3	Silent	SNP	ENST00000539936.1	37																																																																																					0.582	AQP7-203	KNOWN	basic	protein_coding	protein_coding			NM_001170	
ARHGAP5	394	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	32619205	32619205	+	Silent	SNP	A	A	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr14:32619205A>G	ENST00000345122.3	+	5	4356	c.4041A>G	c.(4039-4041)ccA>ccG	p.P1347P	ARHGAP5_ENST00000396582.2_Silent_p.P82P|ARHGAP5_ENST00000539826.2_Silent_p.P1347P|ARHGAP5_ENST00000433497.1_Silent_p.P86P|ARHGAP5_ENST00000556611.1_Silent_p.P1346P|ARHGAP5_ENST00000432921.1_Silent_p.P1346P	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1347	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.P1347P(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTTTAATTCCATATTCTCTTC	0.363																																					NSCLC(9;77 350 3443 29227 41353)												1	Substitution - coding silent(1)	kidney(1)											63.0	58.0	60.0					14																	32619205		2203	4299	6502	SO:0001819	synonymous_variant	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.4041A>G	14.37:g.32619205A>G			A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	CCDS32062.1																																																																																				0.363	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1		NM_001030055	
ATXN2	6311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	111893890	111893891	+	Missense_Mutation	DNP	AT	AT	CA			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A|T	A|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr12:111893890_111893891AT>CA	ENST00000377617.3	-	23	3847_3848	c.3686_3687AT>TG	c.(3685-3687)cAT>cTG	p.H1229L	ATXN2_ENST00000535949.1_Missense_Mutation_p.H922L|ATXN2_ENST00000542287.2_Missense_Mutation_p.H964L|ATXN2_ENST00000389153.4_Missense_Mutation_p.H966L|ATXN2_ENST00000608853.1_Missense_Mutation_p.H1069L|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1229					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.H1229L(2)|p.H1229Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CGTGAGAAGGATGGATCGTAAA	0.55																																																	3	Substitution - Missense(3)	kidney(3)																																								SO:0001583	missense	6311			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3686_3687delinsCA	12.37:g.111893890_111893891delinsCA	ENSP00000366843:p.His1229Leu		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	CCDS31902.1																																																																																				0.550	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3		NM_002973	
BIN3	55909	broad.mit.edu	37	8	22479026	22479026	+	Missense_Mutation	SNP	T	T	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr8:22479026T>G	ENST00000276416.6	-	9	739	c.671A>C	c.(670-672)gAc>gCc	p.D224A	BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000399977.4_Missense_Mutation_p.D176A|BIN3_ENST00000519513.1_Missense_Mutation_p.D170A|CCAR2_ENST00000308511.4_3'UTR	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	224	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)	p.D224A(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCCTGGCTGGTCAAGCTGATG	0.612																																																	1	Substitution - Missense(1)	kidney(1)											66.0	80.0	75.0					8																	22479026		2117	4230	6347	SO:0001583	missense	55909				CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.671A>C	8.37:g.22479026T>G	ENSP00000276416:p.Asp224Ala		Q9BVG2|Q9NVY9	Missense_Mutation	SNP	ENST00000276416.6	37	CCDS47825.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.478606	0.63849	.	.	ENSG00000147439	ENST00000276416;ENST00000519513;ENST00000399977	T;T;T	0.60797	0.16;0.16;0.16	5.48	5.48	0.80851	BAR (3);	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	M	0.72118	2.19	0.80722	D	1	D;D	0.61080	0.972;0.989	P;P	0.57620	0.581;0.824	T	0.74003	-0.3804	10	0.66056	D	0.02	-24.3529	13.558	0.61770	0.0:0.0:0.0:1.0	.	224;224	Q9NQY0;Q53HW0	BIN3_HUMAN;.	A	224;170;176	ENSP00000276416:D224A;ENSP00000430423:D170A;ENSP00000382859:D176A	ENSP00000276416:D224A	D	-	2	0	BIN3	22534971	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.932000	0.63476	2.081000	0.62600	0.533000	0.62120	GAC		0.612	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375895.1			
BRD2	6046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	32942463	32942463	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr6:32942463T>C	ENST00000374825.4	+	3	1955	c.254T>C	c.(253-255)gTa>gCa	p.V85A	BRD2_ENST00000449085.2_Missense_Mutation_p.V38A|XXbac-BPG181M17.6_ENST00000580587.1_RNA|BRD2_ENST00000395289.2_Missense_Mutation_p.V85A|BRD2_ENST00000395287.1_Missense_Mutation_p.V85A|BRD2_ENST00000374831.4_Missense_Mutation_p.V85A|BRD2_ENST00000443797.2_5'UTR	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	85					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.V85A(1)		central_nervous_system(3)|stomach(2)	5						CTACACAAGGTAGTGATGAAG	0.547																																																	1	Substitution - Missense(1)	kidney(1)											75.0	68.0	70.0					6																	32942463		2203	4300	6503	SO:0001583	missense	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.254T>C	6.37:g.32942463T>C	ENSP00000363958:p.Val85Ala		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	CCDS4762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.86|14.86	2.661549|2.661549	0.47572|0.47572	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000395287;ENST00000449085|ENST00000456339;ENST00000449025	T;T;T;T;T|.	0.18016|.	2.24;2.24;2.24;2.24;2.24|.	5.36|5.36	5.36|5.36	0.76844|0.76844	Bromodomain (3);|.	0.000000|.	0.43110|.	D|.	0.000612|.	T|.	0.42720|.	0.1215|.	L|L	0.31926|0.31926	0.97|0.97	0.80722|0.80722	D|D	1|1	P;P|.	0.42871|.	0.792;0.641|.	P;P|.	0.51918|.	0.684;0.633|.	T|.	0.38243|.	-0.9670|.	10|.	0.33141|.	T|.	0.24|.	-15.1943|-15.1943	13.3662|13.3662	0.60684|0.60684	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	85;85|.	A2AAU0;P25440|.	.;BRD2_HUMAN|.	A|Q	85;85;85;85;38|87;91	ENSP00000363958:V85A;ENSP00000363964:V85A;ENSP00000378704:V85A;ENSP00000378702:V85A;ENSP00000409145:V38A|.	ENSP00000363958:V85A|.	V|X	+|+	2|1	0|0	BRD2|BRD2	33050441|33050441	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	3.159000|3.159000	0.50731|0.50731	2.247000|2.247000	0.74100|0.74100	0.523000|0.523000	0.50628|0.50628	GTA|TAG		0.547	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			
BRE	9577	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	28467670	28467670	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:28467670A>C	ENST00000342045.2	+	11	1016	c.875A>C	c.(874-876)gAa>gCa	p.E292A	BRE_ENST00000379624.1_Missense_Mutation_p.E292A|BRE_ENST00000361704.2_Missense_Mutation_p.E292A|BRE_ENST00000379632.2_Missense_Mutation_p.E292A|BRE_ENST00000344773.2_Missense_Mutation_p.E292A	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)									p.E292A(3)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TATGATGCAGAAGGCTTTACA	0.333																																																	3	Substitution - Missense(3)	kidney(3)											219.0	194.0	203.0					2																	28467670		2203	4300	6503	SO:0001583	missense	9577			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.875A>C	2.37:g.28467670A>C	ENSP00000339371:p.Glu292Ala			Missense_Mutation	SNP	ENST00000342045.2	37	CCDS1763.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441258	0.43326	.	.	ENSG00000158019	ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379623	.	.	.	5.84	5.84	0.93424	.	0.048851	0.85682	D	0.000000	T	0.51109	0.1655	L	0.43152	1.355	0.53688	D	0.999972	P;P;B;B	0.42871	0.792;0.481;0.122;0.206	B;B;B;B	0.40677	0.337;0.184;0.04;0.115	T	0.46569	-0.9182	9	0.18710	T	0.47	-27.3602	15.8917	0.79303	1.0:0.0:0.0:0.0	.	292;292;292;292	Q9NXR7-1;Q9NXR7;Q9NXR7-4;Q9NXR7-3	.;BRE_HUMAN;.;.	A	292;292;292;292;292;194	.	ENSP00000339371:E292A	E	+	2	0	BRE	28321174	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.165000	0.71891	2.228000	0.72767	0.533000	0.62120	GAA		0.333	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1			
METTL25	84190	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	82796821	82796821	+	Missense_Mutation	SNP	A	A	G	rs374095144		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr12:82796821A>G	ENST00000248306.3	+	5	1260	c.1191A>G	c.(1189-1191)atA>atG	p.I397M	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	397							methyltransferase activity (GO:0008168)	p.I397M(1)									CTTTGCGAATATTTACCTCCA	0.373																																																	1	Substitution - Missense(1)	kidney(1)						A	MET/ILE	0,4406		0,0,2203	96.0	93.0	94.0		1191	2.9	1.0	12		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	C12orf26	NM_032230.2	10	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	397/604	82796821	1,13005	2203	4300	6503	SO:0001583	missense	0			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1191A>G	12.37:g.82796821A>G	ENSP00000248306:p.Ile397Met		Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	A	7.838	0.721254	0.15372	0.0	1.16E-4	ENSG00000127720	ENST00000248306;ENST00000550298	T;T	0.42513	0.97;0.97	5.49	2.94	0.34122	.	0.083383	0.85682	N	0.000000	T	0.35682	0.0940	L	0.53249	1.67	0.40987	D	0.984827	B	0.26318	0.146	B	0.34301	0.179	T	0.10451	-1.0629	10	0.22109	T	0.4	-16.0759	5.953	0.19257	0.4412:0.1224:0.0:0.4364	.	397	Q8N6Q8	CL026_HUMAN	M	397;32	ENSP00000248306:I397M;ENSP00000449730:I32M	ENSP00000248306:I397M	I	+	3	3	C12orf26	81320952	1.000000	0.71417	1.000000	0.80357	0.281000	0.26958	2.210000	0.42816	0.874000	0.35823	0.482000	0.46254	ATA		0.373	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1		NM_032230	
C12orf56	115749	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	64671569	64671569	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr12:64671569T>C	ENST00000543942.2	-	9	1951	c.1325A>G	c.(1324-1326)aAt>aGt	p.N442S	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000536975.1_5'UTR|C12orf56_ENST00000333722.5_Missense_Mutation_p.N282S	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	442								p.N282S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TACCAAGAGATTAAATAGTGC	0.353																																																	1	Substitution - Missense(1)	kidney(1)											46.0	44.0	45.0					12																	64671569		1798	4063	5861	SO:0001583	missense	115749				CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.1325A>G	12.37:g.64671569T>C	ENSP00000446101:p.Asn442Ser			Missense_Mutation	SNP	ENST00000543942.2	37		.	.	.	.	.	.	.	.	.	.	T	7.572	0.666867	0.14710	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716	.	.	.	4.84	0.772	0.18510	.	0.393097	0.26923	N	0.021808	T	0.58864	0.2152	L	0.59436	1.845	0.28742	N	0.901924	B;D	0.71674	0.206;0.998	B;D	0.76071	0.124;0.987	T	0.53711	-0.8400	8	.	.	.	-8.1378	10.0606	0.42273	0.0:0.0:0.5324:0.4676	.	282;445	Q8IXR9-2;Q8IXR9	.;CL056_HUMAN	S	282;443;445	.	.	N	-	2	0	C12orf56	62957836	1.000000	0.71417	0.998000	0.56505	0.261000	0.26267	1.033000	0.30191	0.390000	0.25115	-0.313000	0.08912	AAT		0.353	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2		NM_001099676	
C12orf43	64897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	121442228	121442228	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr12:121442228G>C	ENST00000288757.3	-	6	539	c.517C>G	c.(517-519)Cag>Gag	p.Q173E	C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000445832.3_Missense_Mutation_p.Q143E|C12orf43_ENST00000537817.1_Missense_Mutation_p.Q174E|C12orf43_ENST00000539736.1_Missense_Mutation_p.Q163E|C12orf43_ENST00000366211.2_Missense_Mutation_p.Q132E	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	173								p.Q173E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCTGACTCCTGTAGGATGTCG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											106.0	120.0	115.0					12																	121442228		2203	4300	6503	SO:0001583	missense	64897			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.517C>G	12.37:g.121442228G>C	ENSP00000288757:p.Gln173Glu		Q53HF0|Q9H9Z7	Missense_Mutation	SNP	ENST00000288757.3	37	CCDS9210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.12|13.12	2.141339|2.141339	0.37825|0.37825	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000445832;ENST00000288757;ENST00000537817;ENST00000366211;ENST00000539736;ENST00000538296;ENST00000535367|ENST00000546272	T;T;T;T;T|.	0.46063|.	0.88;0.88;0.88;0.88;0.88|.	5.73|5.73	4.85|4.85	0.62838|0.62838	.|.	0.345606|.	0.30658|.	N|.	0.009155|.	T|.	0.55081|.	0.1898|.	M|M	0.72118|0.72118	2.19|2.19	0.19775|0.19775	N|N	0.999951|0.999951	P;P;P;P;B|.	0.50272|.	0.873;0.933;0.487;0.873;0.208|.	B;B;B;B;B|.	0.41510|.	0.359;0.359;0.122;0.359;0.047|.	T|.	0.50224|.	-0.8853|.	10|.	0.38643|.	T|.	0.18|.	-9.5299|-9.5299	9.4199|9.4199	0.38546|0.38546	0.0758:0.0:0.7727:0.1514|0.0758:0.0:0.7727:0.1514	.|.	163;132;174;163;173|.	G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57|.	.;.;.;.;CL043_HUMAN|.	E|X	143;173;174;132;163;111;128|126	ENSP00000409788:Q143E;ENSP00000288757:Q173E;ENSP00000442224:Q174E;ENSP00000437803:Q163E;ENSP00000442041:Q111E|.	ENSP00000288757:Q173E|.	Q|Y	-|-	1|3	0|2	C12orf43|C12orf43	119926611|119926611	.|.	.|.	0.781000|0.781000	0.31783|0.31783	0.072000|0.072000	0.16883|0.16883	.|.	.|.	1.448000|1.448000	0.47680|0.47680	-0.136000|-0.136000	0.14681|0.14681	CAG|TAC		0.587	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_022895	
C14orf93	60686	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23458974	23458974	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr14:23458974T>A	ENST00000299088.6	-	5	1490	c.1061A>T	c.(1060-1062)aAt>aTt	p.N354I	C14orf93_ENST00000397382.4_Missense_Mutation_p.N354I|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.N354I|C14orf93_ENST00000397379.3_Missense_Mutation_p.N354I|RP11-298I3.4_ENST00000557615.1_RNA|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397377.1_Missense_Mutation_p.N174I|C14orf93_ENST00000341470.4_Missense_Mutation_p.N354I	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	354						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)	p.N354I(1)		kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		ATCAGTGTAATTGTGGGGACT	0.453																																																	1	Substitution - Missense(1)	kidney(1)											122.0	114.0	117.0					14																	23458974		2203	4300	6503	SO:0001583	missense	60686			AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.1061A>T	14.37:g.23458974T>A	ENSP00000299088:p.Asn354Ile		B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455579	0.84209	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000397377;ENST00000406429	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.85	5.85	0.93711	.	0.067457	0.64402	D	0.000009	T	0.56031	0.1958	L	0.27053	0.805	0.38749	D	0.954064	D;D	0.71674	0.998;0.998	D;D	0.69142	0.962;0.962	T	0.63283	-0.6672	10	0.87932	D	0	-15.615	15.2129	0.73241	0.0:0.0:0.0:1.0	.	354;354	Q9H972;Q9H972-2	CN093_HUMAN;.	I	354;354;354;354;174;354	ENSP00000299088:N354I;ENSP00000341353:N354I;ENSP00000380535:N354I;ENSP00000380538:N354I;ENSP00000380533:N174I;ENSP00000384768:N354I	ENSP00000299088:N354I	N	-	2	0	C14orf93	22528814	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.496000	0.53288	2.233000	0.73108	0.533000	0.62120	AAT		0.453	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5		NM_021944	
C16orf70	80262	broad.mit.edu;ucsc.edu	37	16	67166430	67166430	+	Splice_Site	SNP	T	T	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr16:67166430T>G	ENST00000219139.3	+	5	543		c.e5+2		C16orf70_ENST00000569600.1_Splice_Site|C16orf70_ENST00000569683.1_Splice_Site	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70									p.?(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ATCCTGGAGGTAAGCCAAGTC	0.488																																																	1	Unknown(1)	kidney(1)											123.0	110.0	115.0					16																	67166430		2200	4300	6500	SO:0001630	splice_region_variant	80262			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.355+2T>G	16.37:g.67166430T>G			Q9HA86	Splice_Site	SNP	ENST00000219139.3	37	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428948	0.83667	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1994	0.54315	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C16orf70	65723931	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.405000	0.80007	2.147000	0.66899	0.533000	0.62120	.		0.488	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2		NM_025187	Intron
SPTSSB	165679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	161064028	161064028	+	Silent	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:161064028G>T	ENST00000359175.4	-	3	1654	c.84C>A	c.(82-84)ccC>ccA	p.P28P	SPTSSB_ENST00000497137.1_Silent_p.P28P	NM_001040100.1	NP_001035189.1	Q8NFR3	SPTSB_HUMAN	serine palmitoyltransferase, small subunit B	28					sphingolipid biosynthetic process (GO:0030148)	integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)		p.P28P(1)									ATCGCTCCCAGGGCTCTAAAA	0.443																																																	1	Substitution - coding silent(1)	kidney(1)											93.0	89.0	91.0					3																	161064028		2203	4300	6503	SO:0001819	synonymous_variant	0			AF458592	CCDS33887.1	3q26.1	2011-07-26	2011-07-26	2011-07-26	ENSG00000196542	ENSG00000196542			24045	protein-coding gene	gene with protein product	"""androgen down regulated in mouse prostate"", ""small subunit of serine palmitoyltransferase B"""	610412	"""chromosome 3 open reading frame 57"""	C3orf57		15777716, 19416851	Standard	NM_001040100		Approved	ADMP, ssSPTb	uc003fee.3	Q8NFR3	OTTHUMG00000159073	ENST00000359175.4:c.84C>A	3.37:g.161064028G>T			B2R5D3|D3DNM8|Q0P5S6	Silent	SNP	ENST00000359175.4	37	CCDS33887.1																																																																																				0.443	SPTSSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353181.1		NM_145035	
CCDC17	149483	broad.mit.edu;ucsc.edu	37	1	46087629	46087629	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:46087629delG	ENST00000528266.1	-	8	1153	c.1006delC	c.(1006-1008)caafs	p.Q336fs	CCDC17_ENST00000421127.2_Frame_Shift_Del_p.Q327fs|CCDC17_ENST00000343901.2_Frame_Shift_Del_p.Q304fs|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000464739.1_Intron			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	336										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					CCCTTCGGTTGTAGGCTGGCA	0.612																																																	0													22.0	26.0	24.0					1																	46087629		2202	4300	6502	SO:0001589	frameshift_variant	149483				CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1006delC	1.37:g.46087629delG	ENSP00000432172:p.Gln336fs		A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Frame_Shift_Del	DEL	ENST00000528266.1	37	CCDS44131.2																																																																																				0.612	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386833.1		NM_152500	
CD1D	912	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158152008	158152008	+	Missense_Mutation	SNP	C	C	A	rs536931854		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:158152008C>A	ENST00000368171.3	+	4	1014	c.515C>A	c.(514-516)aCg>aAg	p.T172K		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	172					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.T172K(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GACAAGTGGACGAGGGAAACA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											168.0	170.0	169.0					1																	158152008		2203	4300	6503	SO:0001583	missense	912			BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.515C>A	1.37:g.158152008C>A	ENSP00000357153:p.Thr172Lys		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.602653	0.28534	.	.	ENSG00000158473	ENST00000368171	T	0.17370	2.28	4.65	0.555	0.17247	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.49916	D	0.000140	T	0.14313	0.0346	M	0.82323	2.585	0.09310	N	1	D	0.89917	1.0	P	0.58130	0.833	T	0.08046	-1.0741	10	0.23891	T	0.37	-14.4929	3.2088	0.06675	0.186:0.5117:0.0:0.3023	.	172	P15813	CD1D_HUMAN	K	172	ENSP00000357153:T172K	ENSP00000357153:T172K	T	+	2	0	CD1D	156418632	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	0.661000	0.25023	0.253000	0.21552	0.650000	0.86243	ACG		0.522	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1		NM_001766	
CASQ1	844	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160167357	160167357	+	Splice_Site	SNP	A	A	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:160167357A>G	ENST00000368078.3	+	7	978		c.e7-1		CASQ1_ENST00000368079.3_Splice_Site|CASQ1_ENST00000467691.1_5'Flank			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)						endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)	p.?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTCTCTTCTAGATCAACCCT	0.567																																																	1	Unknown(1)	kidney(1)											122.0	119.0	120.0					1																	160167357		2203	4300	6503	SO:0001630	splice_region_variant	844			S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.783-1A>G	1.37:g.160167357A>G			B1AKZ2|B2R863|Q8TBW7	Splice_Site	SNP	ENST00000368078.3	37	CCDS1198.2	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187791	0.57909	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.852	0.63504	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CASQ1	158433981	1.000000	0.71417	0.967000	0.41034	0.665000	0.39181	8.466000	0.90387	1.920000	0.55613	0.533000	0.62120	.		0.567	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1		NM_001231	Intron
CD200	4345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	112059811	112059811	+	Silent	SNP	G	G	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:112059811G>C	ENST00000315711.8	+	2	132	c.75G>C	c.(73-75)gtG>gtC	p.V25V	CD200_ENST00000473539.1_Silent_p.V50V|CD200_ENST00000383681.3_Intron	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	25					regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.V50V(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				TGGCAGCAGTGGTGCTGTGCA	0.488																																																	1	Substitution - coding silent(1)	kidney(1)											128.0	108.0	115.0					3																	112059811		2203	4300	6503	SO:0001819	synonymous_variant	4345				CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7203	protein-coding gene	gene with protein product		155970	"""antigen identified by monoclonal antibody MRC OX-2"", ""CD200 antigen"""	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000315711.8:c.75G>C	3.37:g.112059811G>C			B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Silent	SNP	ENST00000315711.8	37	CCDS2965.1																																																																																				0.488	CD200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354078.1			
CDC25C	995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137621758	137621758	+	Silent	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr5:137621758G>A	ENST00000323760.6	-	13	1503	c.1225C>T	c.(1225-1227)Cta>Tta	p.L409L	CDC25C_ENST00000356505.3_Silent_p.L379L|CDC25C_ENST00000514555.1_Silent_p.L379L|CDC25C_ENST00000357274.3_Silent_p.L366L|CDC25C_ENST00000348983.3_Silent_p.L336L|CDC25C_ENST00000415130.2_Silent_p.L336L|CDC25C_ENST00000513970.1_Silent_p.L409L	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	409	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)	p.L409L(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGGATATATAGCTCTGGGTAG	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											106.0	111.0	109.0					5																	137621758		2203	4300	6503	SO:0001819	synonymous_variant	995			M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.1225C>T	5.37:g.137621758G>A			D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Silent	SNP	ENST00000323760.6	37	CCDS4202.1	.	.	.	.	.	.	.	.	.	.	G	7.376	0.627890	0.14257	.	.	ENSG00000158402	ENST00000514017	.	.	.	5.12	4.26	0.50523	.	.	.	.	.	T	0.64000	0.2559	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63305	-0.6667	4	.	.	.	-10.9519	12.9436	0.58359	0.0793:0.0:0.9207:0.0	.	.	.	.	V	210	.	.	A	-	2	0	CDC25C	137649657	1.000000	0.71417	0.991000	0.47740	0.958000	0.62258	4.734000	0.62043	1.539000	0.49286	-0.136000	0.14681	GCT		0.507	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			
CELSR2	1952	hgsc.bcm.edu	37	1	109792735	109792736	+	In_Frame_Ins	INS	-	-	CGC	rs377757908|rs59201433|rs144034706	byFrequency	TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:109792735_109792736insCGC	ENST00000271332.3	+	1	95_96	c.34_35insCGC	c.(34-36)acg>aCGCcg	p.16_17insP		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	16					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCCTCCCAACgccgccgccg	0.752														2846	0.568291	0.4198	0.6311	5008	,	,		10222	0.5298		0.7276	False		,,,				2504	0.6002				NSCLC(158;1285 2011 34800 34852 42084)												0										1363,1439		473,417,511						3.0	0.1		dbSNP_130	6	4135,1897		1679,777,560	no	coding	CELSR2	NM_001408.2		2152,1194,1071	A1A1,A1R,RR		31.4489,48.6438,37.7632				5498,3336				SO:0001652	inframe_insertion	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.47_49dupCGC	1.37:g.109792742_109792744dupCGC	ENSP00000271332:p.Pro16_Pro16dup		Q5T2Y7|Q92566	In_Frame_Ins	INS	ENST00000271332.3	37	CCDS796.1																																																																																				0.752	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1		NM_001408	
CELSR2	1952	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	109805009	109805009	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:109805009G>A	ENST00000271332.3	+	6	4548	c.4487G>A	c.(4486-4488)gGa>gAa	p.G1496E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1496	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.G1496E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTGCGCTTCGGATCTGTCCTG	0.632																																					NSCLC(158;1285 2011 34800 34852 42084)												1	Substitution - Missense(1)	kidney(1)											74.0	68.0	70.0					1																	109805009		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4487G>A	1.37:g.109805009G>A	ENSP00000271332:p.Gly1496Glu		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692355	0.88735	.	.	ENSG00000143126	ENST00000271332	T	0.78481	-1.18	4.75	4.75	0.60458	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.85873	0.5798	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84904	0.0844	9	0.39692	T	0.17	.	17.93	0.88993	0.0:0.0:1.0:0.0	.	1496	Q9HCU4	CELR2_HUMAN	E	1496	ENSP00000271332:G1496E	ENSP00000271332:G1496E	G	+	2	0	CELSR2	109606532	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	7.253000	0.78320	2.468000	0.83385	0.462000	0.41574	GGA		0.632	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1		NM_001408	
CHRM3	1131	broad.mit.edu;hgsc.bcm.edu	37	1	240071728	240071728	+	Missense_Mutation	SNP	A	A	G	rs561025752		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:240071728A>G	ENST00000255380.4	+	5	1756	c.977A>G	c.(976-978)cAg>cGg	p.Q326R		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	326					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.Q326R(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AGCTCCGAGCAGATGGACCAA	0.552																																																	1	Substitution - Missense(1)	kidney(1)											48.0	45.0	46.0					1																	240071728		2203	4300	6503	SO:0001583	missense	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.977A>G	1.37:g.240071728A>G	ENSP00000255380:p.Gln326Arg		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	A	9.479	1.097579	0.20552	.	.	ENSG00000133019	ENST00000255380	T	0.57595	0.39	5.97	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.209202	0.41938	D	0.000800	T	0.26484	0.0647	N	0.04508	-0.205	0.42479	D	0.992856	B	0.02656	0.0	B	0.10450	0.005	T	0.05257	-1.0896	10	0.21014	T	0.42	-15.3758	8.5273	0.33313	0.8017:0.1309:0.0674:0.0	.	326	P20309	ACM3_HUMAN	R	326	ENSP00000255380:Q326R	ENSP00000255380:Q326R	Q	+	2	0	CHRM3	238138351	0.995000	0.38212	1.000000	0.80357	0.887000	0.51463	2.607000	0.46300	1.080000	0.41073	0.533000	0.62120	CAG		0.552	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2		NM_000740	
CLCN2	1181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184079226	184079226	+	Silent	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:184079226C>G	ENST00000265593.4	-	1	213	c.42G>C	c.(40-42)gcG>gcC	p.A14A	CLCN2_ENST00000457512.1_Silent_p.A14A|POLR2H_ENST00000438240.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Silent_p.A14A|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Silent_p.A14A|POLR2H_ENST00000456318.1_5'Flank|POLR2H_ENST00000443489.1_5'Flank|POLR2H_ENST00000430783.1_5'Flank|POLR2H_ENST00000429568.1_5'Flank|POLR2H_ENST00000452961.1_5'Flank|POLR2H_ENST00000296223.3_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	14					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.A14A(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CGTACTGCAGCGCCCGTGGCT	0.701																																																	1	Substitution - coding silent(1)	kidney(1)											55.0	57.0	56.0					3																	184079226		2203	4300	6503	SO:0001819	synonymous_variant	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.42G>C	3.37:g.184079226C>G			B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Silent	SNP	ENST00000265593.4	37	CCDS3263.1																																																																																				0.701	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			
CLCN5	1184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	49851500	49851500	+	Silent	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chrX:49851500C>T	ENST00000307367.2	+	8	1611	c.1320C>T	c.(1318-1320)gtC>gtT	p.V440V	CLCN5_ENST00000376088.3_Silent_p.V510V|CLCN5_ENST00000376091.3_Silent_p.V510V|CLCN5_ENST00000376108.3_Silent_p.V440V			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	440					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.V510V(1)|p.V440V(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TGAAAATTGTCATTACTATAT	0.498																																																	2	Substitution - coding silent(2)	kidney(2)											68.0	63.0	65.0					X																	49851500		2203	4300	6503	SO:0001819	synonymous_variant	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1320C>T	X.37:g.49851500C>T			A1L475|B3KPN6|Q5JQD5|Q7RTN8	Silent	SNP	ENST00000307367.2	37	CCDS14328.1																																																																																				0.498	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			
CUL7	9820	broad.mit.edu	37	6	43013037	43013037	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr6:43013037T>C	ENST00000265348.3	-	15	3051	c.2966A>G	c.(2965-2967)tAc>tGc	p.Y989C	CUL7_ENST00000535468.1_Missense_Mutation_p.Y1073C|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	989	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.Y989C(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCGAACCATGTAGAAGAGGCG	0.597																																																	1	Substitution - Missense(1)	kidney(1)											128.0	113.0	118.0					6																	43013037		2203	4300	6503	SO:0001583	missense	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.2966A>G	6.37:g.43013037T>C	ENSP00000265348:p.Tyr989Cys		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	T	19.58	3.853833	0.71719	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.83992	-1.76;-1.79	4.98	4.98	0.66077	Anaphase-promoting complex, subunit 10/DOC domain (1);	0.062936	0.64402	D	0.000004	D	0.83801	0.5333	L	0.54323	1.7	0.80722	D	1	P;D;P	0.89917	0.933;1.0;0.85	P;D;P	0.97110	0.557;1.0;0.836	D	0.83952	0.0317	10	0.39692	T	0.17	-7.3222	9.5813	0.39490	0.0:0.0899:0.0:0.9101	.	1073;1073;989	F5H0L1;B4DYZ0;Q14999	.;.;CUL7_HUMAN	C	989;1073	ENSP00000265348:Y989C;ENSP00000438788:Y1073C	ENSP00000265348:Y989C	Y	-	2	0	CUL7	43121015	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.080000	0.64437	1.879000	0.54435	0.460000	0.39030	TAC		0.597	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1		NM_014780	
CXorf22	170063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	35974189	35974189	+	Missense_Mutation	SNP	G	G	A	rs371807838		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chrX:35974189G>A	ENST00000297866.5	+	8	1352	c.1286G>A	c.(1285-1287)cGt>cAt	p.R429H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	429								p.R429H(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATGGGTGAACGTTCAGAAATT	0.373																																																	2	Substitution - Missense(2)	kidney(2)						G	HIS/ARG	0,3833		0,0,1631,571	79.0	74.0	75.0		1286	-10.3	0.0	X		75	1,6727		0,1,2427,1872	no	missense	CXorf22	NM_152632.3	29	0,1,4058,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign	429/977	35974189	1,10560	2202	4300	6502	SO:0001583	missense	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1286G>A	X.37:g.35974189G>A	ENSP00000297866:p.Arg429His		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.613957	0.00835	0.0	1.49E-4	ENSG00000165164	ENST00000297866	T	0.53206	0.63	5.14	-10.3	0.00346	.	0.840228	0.10886	N	0.623220	T	0.18593	0.0446	N	0.02315	-0.6	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.34825	-0.9813	10	0.33141	T	0.24	-8.8988	15.6973	0.77509	0.831:0.0808:0.0881:0.0	.	429	Q6ZTR5	CX022_HUMAN	H	429	ENSP00000297866:R429H	ENSP00000297866:R429H	R	+	2	0	CXorf22	35884110	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.989000	0.03736	-2.361000	0.00609	-0.192000	0.12808	CGT		0.373	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2		NM_152632	
CYB561A3	220002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61120499	61120499	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:61120499G>A	ENST00000294072.4	-	5	1183	c.506C>T	c.(505-507)gCa>gTa	p.A169V	CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000546151.1_3'UTR|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000536915.1_Missense_Mutation_p.A169V|CYB561A3_ENST00000447532.2_Missense_Mutation_p.A169V|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000426130.2_Missense_Mutation_p.A186V	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	169	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.A169V(1)|p.A186V(1)									AATGACGGATGCGATGGACAG	0.517																																																	2	Substitution - Missense(2)	kidney(2)											72.0	68.0	69.0					11																	61120499		2203	4299	6502	SO:0001583	missense	220002			AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"""Cytochrome b genes"""	23014	protein-coding gene	gene with protein product			"""cytochrome b, ascorbate dependent 3"""	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.506C>T	11.37:g.61120499G>A	ENSP00000294072:p.Ala169Val		B3KPU2|B4DLN9|J3KQH4|Q6PK96	Missense_Mutation	SNP	ENST00000294072.4	37	CCDS8004.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835301	0.50951	.	.	ENSG00000162144	ENST00000426130;ENST00000294072;ENST00000447532;ENST00000536915;ENST00000540139;ENST00000542361;ENST00000537364	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.88	5.88	0.94601	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.303927	0.36740	N	0.002439	T	0.42291	0.1196	L	0.46885	1.475	0.31848	N	0.622545	B;B;B	0.21688	0.058;0.059;0.018	B;B;B	0.26416	0.069;0.041;0.039	T	0.44559	-0.9320	10	0.40728	T	0.16	-12.2098	18.4211	0.90591	0.0:0.0:1.0:0.0	.	186;169;169	B4DLN9;F5H1Q2;Q8NBI2	.;.;CYAC3_HUMAN	V	186;169;169;169;81;169;169	ENSP00000398979:A186V;ENSP00000294072:A169V;ENSP00000389745:A169V;ENSP00000437390:A169V;ENSP00000441085:A81V;ENSP00000443321:A169V;ENSP00000438725:A169V	ENSP00000294072:A169V	A	-	2	0	CYBASC3	60877075	0.851000	0.29673	0.167000	0.22817	0.375000	0.29983	3.658000	0.54482	2.797000	0.96272	0.561000	0.74099	GCA		0.517	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398714.2		NM_153611	
DENND1A	57706	broad.mit.edu	37	9	126144388	126144388	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr9:126144388G>A	ENST00000373624.2	-	22	2554	c.2353C>T	c.(2353-2355)Ctc>Ttc	p.L785F	DENND1A_ENST00000542603.1_Missense_Mutation_p.L570F|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.L796F	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	785	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L785F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGGTCCAGGAGGGCGAGCAGG	0.697																																																	1	Substitution - Missense(1)	kidney(1)											10.0	14.0	13.0					9																	126144388		2187	4275	6462	SO:0001583	missense	57706			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.2353C>T	9.37:g.126144388G>A	ENSP00000362727:p.Leu785Phe		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130965	0.37630	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.31769	2.88;1.48;2.79	4.47	4.47	0.54385	.	0.328666	0.26035	N	0.026737	T	0.47192	0.1432	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.997;0.997;0.994;0.973	T	0.51284	-0.8725	10	0.72032	D	0.01	-19.5457	17.1691	0.86824	0.0:0.0:1.0:0.0	.	796;786;785;648	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	F	785;570;796	ENSP00000362727:L785F;ENSP00000437457:L570F;ENSP00000377766:L796F	ENSP00000362727:L785F	L	-	1	0	DENND1A	125184209	1.000000	0.71417	0.983000	0.44433	0.006000	0.05464	4.964000	0.63701	2.029000	0.59856	0.557000	0.71058	CTC		0.697	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1		NM_024820	
DENND2A	27147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	140301525	140301525	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr7:140301525T>C	ENST00000275884.6	-	2	1090	c.673A>G	c.(673-675)Agg>Ggg	p.R225G	DENND2A_ENST00000492720.1_Missense_Mutation_p.R225G|DENND2A_ENST00000537639.1_Missense_Mutation_p.R225G|DENND2A_ENST00000496613.1_Missense_Mutation_p.R225G			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	225					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R225G(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GTGGGCTCCCTGCCTTCCAGG	0.637																																																	1	Substitution - Missense(1)	kidney(1)											86.0	88.0	87.0					7																	140301525		1910	4122	6032	SO:0001583	missense	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.673A>G	7.37:g.140301525T>C	ENSP00000275884:p.Arg225Gly		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	T	1.502	-0.551892	0.03996	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.10005	3.63;3.63;3.63;2.92	4.74	0.919	0.19392	.	1.845140	0.02832	N	0.126883	T	0.06962	0.0177	N	0.08118	0	0.09310	N	1	B;B	0.28055	0.199;0.008	B;B	0.27076	0.076;0.017	T	0.35699	-0.9778	10	0.37606	T	0.19	-7.7613	7.688	0.28550	0.0:0.079:0.4744:0.4466	.	225;225	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	G	225	ENSP00000275884:R225G;ENSP00000442245:R225G;ENSP00000419654:R225G;ENSP00000419464:R225G	ENSP00000275884:R225G	R	-	1	2	DENND2A	139947994	0.000000	0.05858	0.002000	0.10522	0.036000	0.12997	-0.108000	0.10857	-0.001000	0.14495	0.379000	0.24179	AGG		0.637	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1		NM_015689	
DLGAP5	9787	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	55655785	55655785	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr14:55655785T>C	ENST00000247191.2	-	2	329	c.113A>G	c.(112-114)gAa>gGa	p.E38G	DLGAP5_ENST00000395425.2_Missense_Mutation_p.E38G	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	38					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.E38G(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TCGTTCGTATTCCTTATGTCT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											196.0	183.0	188.0					14																	55655785		2203	4300	6503	SO:0001583	missense	9787			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.113A>G	14.37:g.55655785T>C	ENSP00000247191:p.Glu38Gly		A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.424010	0.43020	.	.	ENSG00000126787	ENST00000395425;ENST00000247191;ENST00000557645;ENST00000554067	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.71	3.3	0.37823	.	0.600833	0.18300	N	0.145454	T	0.51958	0.1705	M	0.64997	1.995	0.25386	N	0.988575	D;D	0.57257	0.979;0.958	P;P	0.52672	0.706;0.48	T	0.45131	-0.9282	10	0.59425	D	0.04	.	6.2627	0.20910	0.2544:0.0696:0.0:0.676	.	38;38	A8MTM6;Q15398	.;DLGP5_HUMAN	G	38	ENSP00000378815:E38G;ENSP00000247191:E38G;ENSP00000451747:E38G;ENSP00000452168:E38G	ENSP00000247191:E38G	E	-	2	0	DLGAP5	54725538	0.997000	0.39634	0.975000	0.42487	0.653000	0.38743	2.513000	0.45494	0.493000	0.27837	-0.250000	0.11733	GAA		0.353	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2		NM_014750	
EME2	197342	broad.mit.edu	37	16	1825568	1825568	+	Splice_Site	SNP	A	A	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr16:1825568A>C	ENST00000568449.1	+	6	684		c.e6-1		MRPS34_ENST00000397375.2_5'Flank|EME2_ENST00000307394.7_Splice_Site|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2						DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)	p.?(1)|p.Q301P(1)		central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CCTCCTCCCCAGGCCCTGGTA	0.632								Direct reversal of damage;Homologous recombination																																									2	Substitution - Missense(1)|Unknown(1)	kidney(2)											37.0	37.0	37.0					16																	1825568		2195	4299	6494	SO:0001630	splice_region_variant	197342			AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.664-1A>C	16.37:g.1825568A>C			Q8TEP2|Q96RY3	Splice_Site	SNP	ENST00000568449.1	37	CCDS58404.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.948274	0.53186	.	.	ENSG00000197774	ENST00000307394;ENST00000454910	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0758	0.53643	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EME2	1765569	1.000000	0.71417	0.867000	0.34043	0.718000	0.41266	6.985000	0.76193	1.741000	0.51731	0.459000	0.35465	.		0.632	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2		NM_001010865	Intron
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112																4	Substitution - coding silent(4)	prostate(2)|endometrium(1)|kidney(1)											48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409	
ERBB4	2066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	212252692	212252692	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:212252692G>T	ENST00000342788.4	-	26	3471	c.3161C>A	c.(3160-3162)cCt>cAt	p.P1054H	ERBB4_ENST00000436443.1_Intron|ERBB4_ENST00000402597.1_Missense_Mutation_p.P1044H	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1054					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P1054H(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GGTGTAGGCAGGAGGAGGGCT	0.373										TSP Lung(8;0.080)																																							1	Substitution - Missense(1)	kidney(1)											118.0	125.0	123.0					2																	212252692		2203	4300	6503	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3161C>A	2.37:g.212252692G>T	ENSP00000342235:p.Pro1054His		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831770	0.50845	.	.	ENSG00000178568	ENST00000342788;ENST00000402597	T;T	0.74632	-0.86;-0.86	5.99	5.99	0.97316	.	0.126644	0.52532	D	0.000070	T	0.75932	0.3917	N	0.08118	0	0.53688	D	0.999978	D;D	0.76494	0.966;0.999	P;D	0.80764	0.717;0.994	T	0.78833	-0.2048	10	0.44086	T	0.13	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	1044;1054	Q15303-2;Q15303	.;ERBB4_HUMAN	H	1054;1044	ENSP00000342235:P1054H;ENSP00000385565:P1044H	ENSP00000342235:P1054H	P	-	2	0	ERBB4	211960937	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.778000	0.75043	2.840000	0.97914	0.655000	0.94253	CCT		0.373	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1		NM_001042599	
EVI5	7813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	93163497	93163497	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:93163497C>T	ENST00000370331.1	-	6	826	c.817G>A	c.(817-819)Gat>Aat	p.D273N	EVI5_ENST00000543509.1_Missense_Mutation_p.D273N|RNU4-59P_ENST00000364447.1_RNA|EVI5_ENST00000540033.1_Missense_Mutation_p.D273N	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	273	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.D273N(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AGTCTATAATCTTGCATTAAT	0.323																																																	1	Substitution - Missense(1)	kidney(1)											92.0	93.0	93.0					1																	93163497		2201	4297	6498	SO:0001583	missense	7813			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.817G>A	1.37:g.93163497C>T	ENSP00000359356:p.Asp273Asn		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190275	0.78789	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.10477	2.87;2.87;2.87	5.45	5.45	0.79879	Rab-GAP/TBC domain (4);	0.089199	0.85682	D	0.000000	T	0.15955	0.0384	L	0.33753	1.03	0.80722	D	1	P;D	0.53619	0.951;0.961	P;D	0.63703	0.864;0.917	T	0.01805	-1.1270	10	0.56958	D	0.05	-15.7508	19.2739	0.94023	0.0:1.0:0.0:0.0	.	273;273	F5H4R0;O60447	.;EVI5_HUMAN	N	273	ENSP00000359356:D273N;ENSP00000440826:D273N;ENSP00000445019:D273N	ENSP00000359356:D273N	D	-	1	0	EVI5	92936085	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.807000	0.86032	2.552000	0.86080	0.655000	0.94253	GAT		0.323	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1		NM_005665	
EXD3	54932	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	140249170	140249170	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr9:140249170G>T	ENST00000340951.4	-	9	1008	c.813C>A	c.(811-813)tgC>tgA	p.C271*	EXD3_ENST00000342129.4_5'UTR	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0								p.C271*(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						ACCGCTTGTGGCACAGGTGCC	0.667																																																	2	Substitution - Nonsense(2)	kidney(2)											28.0	37.0	34.0					9																	140249170		2000	4143	6143	SO:0001587	stop_gained	54932				CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.813C>A	9.37:g.140249170G>T	ENSP00000340474:p.Cys271*		Q6P1M1|Q8IXT8	Nonsense_Mutation	SNP	ENST00000340951.4	37	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779399	0.90195	.	.	ENSG00000187609	ENST00000340951	.	.	.	1.89	1.89	0.25635	.	0.461205	0.20704	U	0.087204	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	6.3322	0.21276	0.0:0.3148:0.6851:0.0	.	.	.	.	X	271	.	ENSP00000340474:C271X	C	-	3	2	EXD3	139368991	0.332000	0.24722	0.229000	0.23960	0.012000	0.07955	0.426000	0.21363	1.355000	0.45865	0.462000	0.41574	TGC		0.667	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1		NM_017820	
AMER3	205147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	131520963	131520963	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:131520963G>A	ENST00000423981.1	+	2	1428	c.1318G>A	c.(1318-1320)Gat>Aat	p.D440N	AMER3_ENST00000321420.4_Missense_Mutation_p.D440N	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	440					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.D440N(1)									CAGCCCAGATGATGACCTGTG	0.662																																																	1	Substitution - Missense(1)	kidney(1)											38.0	39.0	38.0					2																	131520963		2203	4299	6502	SO:0001583	missense	0			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1318G>A	2.37:g.131520963G>A	ENSP00000392700:p.Asp440Asn		B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338381	0.41398	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.21361	2.01;2.01	5.2	4.32	0.51571	.	0.109437	0.39909	N	0.001232	T	0.23210	0.0561	L	0.32530	0.975	0.25200	N	0.990067	P	0.46020	0.871	P	0.51266	0.664	T	0.04551	-1.0943	10	0.62326	D	0.03	.	8.0989	0.30846	0.1837:0.0:0.8163:0.0	.	440	Q8N944	F123C_HUMAN	N	440	ENSP00000314914:D440N;ENSP00000392700:D440N	ENSP00000314914:D440N	D	+	1	0	FAM123C	131237433	1.000000	0.71417	0.296000	0.24974	0.151000	0.21798	4.638000	0.61353	1.330000	0.45394	0.561000	0.74099	GAT		0.662	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3		NM_152698	
FAM166B	730112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35562911	35562911	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr9:35562911C>A	ENST00000399742.2	-	3	523	c.453G>T	c.(451-453)gaG>gaT	p.E151D	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	151								p.E151D(2)		kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						CCAGCTGCCCCTCCGGCTCTG	0.567																																																	2	Substitution - Missense(2)	kidney(2)											62.0	65.0	64.0					9																	35562911		2073	4206	6279	SO:0001583	missense	730112			BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.453G>T	9.37:g.35562911C>A	ENSP00000382646:p.Glu151Asp		A1L3B2|B7ZBJ0	Missense_Mutation	SNP	ENST00000399742.2	37	CCDS56572.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252443	0.39797	.	.	ENSG00000215187	ENST00000399742;ENST00000537504	.	.	.	5.33	1.98	0.26296	.	2137.310000	0.00447	U	0.000095	T	0.49167	0.1541	M	0.70595	2.14	0.09310	N	1	P;P;B;P	0.49559	0.877;0.877;0.013;0.925	B;B;B;P	0.47162	0.339;0.339;0.005;0.54	T	0.30621	-0.9972	9	0.16896	T	0.51	-7.7567	7.6682	0.28443	0.0:0.6843:0.0:0.3157	.	151;151;151;151	B7ZW33;B7ZW26;A8MTA8;A8MTA8-2	.;.;F166B_HUMAN;.	D	151	.	ENSP00000382646:E151D	E	-	3	2	FAM166B	35552911	0.005000	0.15991	0.042000	0.18584	0.013000	0.08279	1.818000	0.39012	0.618000	0.30179	0.563000	0.77884	GAG		0.567	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1		NM_001099951	
PIEZO2	63895	broad.mit.edu;hgsc.bcm.edu	37	18	10697808	10697808	+	Silent	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr18:10697808C>T	ENST00000503781.3	-	41	6425	c.6426G>A	c.(6424-6426)agG>agA	p.R2142R	PIEZO2_ENST00000285141.4_5'UTR|PIEZO2_ENST00000302079.6_Silent_p.R2142R|PIEZO2_ENST00000538948.1_Silent_p.R99R|PIEZO2_ENST00000580640.1_Silent_p.R2167R	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2142					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.R2142R(1)									TATAAAGTTCCCTTTTGCCTT	0.368																																																	1	Substitution - coding silent(1)	kidney(1)											142.0	135.0	138.0					18																	10697808		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6426G>A	18.37:g.10697808C>T			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	ENST00000503781.3	37																																																																																					0.368	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4		NM_022068	
FERMT3	83706	hgsc.bcm.edu;ucsc.edu	37	11	63990606	63990607	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:63990606_63990607delAG	ENST00000279227.5	+	14	1864_1865	c.1769_1770delAG	c.(1768-1770)aagfs	p.K590fs	TRPT1_ENST00000540472.1_5'Flank|FERMT3_ENST00000345728.5_Frame_Shift_Del_p.K586fs	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	590					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GACGTGGTCAAGACCTGGCGTT	0.624																																																	0																																										SO:0001589	frameshift_variant	83706			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1769_1770delAG	11.37:g.63990606_63990607delAG	ENSP00000279227:p.Lys590fs		Q8IUA1|Q8N207|Q9BT48	Frame_Shift_Del	DEL	ENST00000279227.5	37	CCDS8060.1																																																																																				0.624	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1		NM_031471	
FAT3	120114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	92543049	92543049	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:92543049C>G	ENST00000298047.6	+	12	9305	c.9288C>G	c.(9286-9288)atC>atG	p.I3096M	FAT3_ENST00000525166.1_Missense_Mutation_p.I2946M|FAT3_ENST00000409404.2_Missense_Mutation_p.I3096M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3096	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I3096M(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGAGAGGATCCCCGTGTACA	0.507										TCGA Ovarian(4;0.039)																																							2	Substitution - Missense(2)	kidney(2)											75.0	74.0	74.0					11																	92543049		1867	4096	5963	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9288C>G	11.37:g.92543049C>G	ENSP00000298047:p.Ile3096Met		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	4.636	0.118160	0.08881	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01745	4.66;4.66;4.66	5.31	0.464	0.16706	.	.	.	.	.	T	0.01387	0.0045	N	0.26092	0.79	0.58432	D	0.999999	P	0.38250	0.624	B	0.33690	0.168	T	0.66081	-0.6012	9	0.46703	T	0.11	.	7.1497	0.25604	0.115:0.5887:0.2246:0.0717	.	3096	Q8TDW7-3	.	M	3096;3096;2946	ENSP00000298047:I3096M;ENSP00000387040:I3096M;ENSP00000432586:I2946M	ENSP00000298047:I3096M	I	+	3	3	FAT3	92182697	0.168000	0.22989	0.990000	0.47175	0.007000	0.05969	-0.354000	0.07681	0.183000	0.20059	-1.463000	0.01021	ATC		0.507	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781	
FMNL3	91010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	50050231	50050231	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr12:50050231C>T	ENST00000293590.5	-	9	1074	c.841G>A	c.(841-843)Gga>Aga	p.G281R	FMNL3_ENST00000335154.5_Missense_Mutation_p.G281R|FMNL3_ENST00000550488.1_Missense_Mutation_p.G281R|FMNL3_ENST00000352151.5_Missense_Mutation_p.G230R			Q8IVF7	FMNL3_HUMAN	formin-like 3	281	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)	p.G281R(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCGTGACCTCCTCGCACCAAA	0.512																																																	2	Substitution - Missense(2)	kidney(2)											78.0	80.0	79.0					12																	50050231		2053	4227	6280	SO:0001583	missense	91010			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.841G>A	12.37:g.50050231C>T	ENSP00000293590:p.Gly281Arg		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37		.	.	.	.	.	.	.	.	.	.	C	34	5.404328	0.96051	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.94830	0.8330	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95157	0.8278	10	0.62326	D	0.03	.	18.4119	0.90554	0.0:1.0:0.0:0.0	.	230;281	Q8IVF7-2;Q8IVF7-3	.;.	R	281;281;230;281	ENSP00000335655:G281R;ENSP00000447479:G281R;ENSP00000344311:G230R;ENSP00000293590:G281R	ENSP00000293590:G281R	G	-	1	0	FMNL3	48336498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.748000	0.85085	2.732000	0.93576	0.655000	0.94253	GGA		0.512	FMNL3-201	KNOWN	basic	protein_coding	protein_coding			NM_175736	
FZR1	51343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	3523035	3523035	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr19:3523035G>C	ENST00000395095.3	+	1	48	c.48G>C	c.(46-48)caG>caC	p.Q16H	SNORD38_ENST00000516599.1_RNA|FZR1_ENST00000313639.8_Missense_Mutation_p.Q16H|FZR1_ENST00000441788.2_Missense_Mutation_p.Q16H	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	16					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.Q16H(1)		endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGTCATCCAGAATGAGAACA	0.687																																																	1	Substitution - Missense(1)	kidney(1)											76.0	75.0	75.0					19																	3523035		2203	4299	6502	SO:0001583	missense	51343			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.48G>C	19.37:g.3523035G>C	ENSP00000378529:p.Gln16His		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292005	0.40594	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.07908	3.15;3.15;3.15	4.17	1.96	0.26148	.	0.000000	0.64402	D	0.000001	T	0.13457	0.0326	L	0.27053	0.805	0.23336	N	0.997882	P;D;P	0.54397	0.472;0.966;0.771	B;D;P	0.72338	0.179;0.977;0.506	T	0.05517	-1.0880	10	0.45353	T	0.12	-24.0588	7.9217	0.29850	0.2017:0.0:0.7983:0.0	.	16;16;16	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	H	16	ENSP00000410369:Q16H;ENSP00000378529:Q16H;ENSP00000321800:Q16H	ENSP00000321800:Q16H	Q	+	3	2	FZR1	3474035	1.000000	0.71417	0.998000	0.56505	0.842000	0.47809	2.343000	0.44001	0.395000	0.25257	0.555000	0.69702	CAG		0.687	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2		NM_016263	
GIMAP8	155038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150174244	150174244	+	Silent	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr7:150174244C>T	ENST00000307271.3	+	5	1948	c.1374C>T	c.(1372-1374)atC>atT	p.I458I		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	458	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.I458I(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGAACTCTATCCTGGGGAGCC	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											71.0	74.0	73.0					7																	150174244		2203	4300	6503	SO:0001819	synonymous_variant	155038			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1374C>T	7.37:g.150174244C>T				Silent	SNP	ENST00000307271.3	37	CCDS34777.1																																																																																				0.592	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1		NM_175571	
GTSE1	51512	hgsc.bcm.edu;ucsc.edu	37	22	46725272	46725272	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr22:46725272delC	ENST00000454366.1	+	11	2156	c.1944delC	c.(1942-1944)atcfs	p.I648fs		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	629					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TTGTAGATATCAAACTGGAAC	0.512																																					GBM(153;542 1915 12487 29016 50495)												0													148.0	156.0	154.0					22																	46725272		2203	4300	6503	SO:0001589	frameshift_variant	51512			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1944delC	22.37:g.46725272delC	ENSP00000415430:p.Ile648fs		B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Frame_Shift_Del	DEL	ENST00000454366.1	37	CCDS14074.2																																																																																				0.512	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2		NM_016426	
H1FX	8971	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	129034182	129034182	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:129034182C>G	ENST00000333762.4	-	1	938	c.564G>C	c.(562-564)aaG>aaC	p.K188N	H1FX-AS1_ENST00000537780.1_RNA|H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000383461.2_RNA|H1FX-AS1_ENST00000502789.2_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	188					nucleosome assembly (GO:0006334)	nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.K188N(1)		kidney(1)|ovary(1)|urinary_tract(2)	4						CGGCCGCCGTCTTCTTGGCCT	0.697																																																	1	Substitution - Missense(1)	kidney(1)											14.0	16.0	15.0					3																	129034182		2198	4293	6491	SO:0001583	missense	8971			D64142	CCDS3057.1	3q21.3	2011-08-16			ENSG00000184897	ENSG00000184897		"""Histones / Replication-independent"""	4722	protein-coding gene	gene with protein product		602785				8964515, 9439656	Standard	NM_006026		Approved	MGC15959, MGC8350, H1X	uc003elx.3	Q92522	OTTHUMG00000159450	ENST00000333762.4:c.564G>C	3.37:g.129034182C>G	ENSP00000329662:p.Lys188Asn			Missense_Mutation	SNP	ENST00000333762.4	37	CCDS3057.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310797	0.40895	.	.	ENSG00000184897	ENST00000333762	T	0.11495	2.77	4.44	3.54	0.40534	.	0.882828	0.09068	U	0.853229	T	0.20659	0.0497	L	0.29908	0.895	0.37066	D	0.898286	D	0.89917	1.0	D	0.83275	0.996	T	0.07790	-1.0754	10	0.30078	T	0.28	-12.4082	10.4961	0.44778	0.0:0.8992:0.0:0.1008	.	188	Q92522	H1X_HUMAN	N	188	ENSP00000329662:K188N	ENSP00000329662:K188N	K	-	3	2	H1FX	130516872	0.758000	0.28405	1.000000	0.80357	0.475000	0.33008	0.526000	0.22971	2.003000	0.58678	0.491000	0.48974	AAG		0.697	H1FX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355455.2		NM_006026	
HECW2	57520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	197184155	197184155	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:197184155C>T	ENST00000260983.3	-	9	1641	c.1459G>A	c.(1459-1461)Ggc>Agc	p.G487S	HECW2_ENST00000409111.1_Missense_Mutation_p.G131S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	487					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G487S(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATGATCAGGCCTCCCTCCTCC	0.498																																																	1	Substitution - Missense(1)	kidney(1)											59.0	54.0	55.0					2																	197184155		2203	4300	6503	SO:0001583	missense	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1459G>A	2.37:g.197184155C>T	ENSP00000260983:p.Gly487Ser		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865072	0.71949	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.36340	1.26;1.4	5.5	5.5	0.81552	.	0.857310	0.10760	N	0.637226	T	0.24314	0.0589	N	0.08118	0	0.46823	D	0.999218	P	0.40970	0.734	B	0.37731	0.257	T	0.21690	-1.0238	10	0.29301	T	0.29	.	17.7634	0.88470	0.0:1.0:0.0:0.0	.	487	Q9P2P5	HECW2_HUMAN	S	131;487	ENSP00000386775:G131S;ENSP00000260983:G487S	ENSP00000260983:G487S	G	-	1	0	HECW2	196892400	0.940000	0.31905	0.635000	0.29338	0.943000	0.58893	3.429000	0.52800	2.868000	0.98415	0.555000	0.69702	GGC		0.498	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3		NM_020760	
HPS5	11234	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	18314494	18314494	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:18314494G>T	ENST00000349215.3	-	15	2091	c.1814C>A	c.(1813-1815)cCa>cAa	p.P605Q	HPS5_ENST00000438420.2_Missense_Mutation_p.P491Q|HPS5_ENST00000352460.3_Intron|HPS5_ENST00000396253.3_Missense_Mutation_p.P491Q	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	605					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.P605Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTCTTCTTCTGGAGGTGGACT	0.393									Hermansky-Pudlak syndrome																																								1	Substitution - Missense(1)	kidney(1)											184.0	163.0	170.0					11																	18314494		2199	4293	6492	SO:0001583	missense	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1814C>A	11.37:g.18314494G>T	ENSP00000265967:p.Pro605Gln		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	G	9.662	1.144415	0.21205	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.76968	-1.06;-1.06;-1.06	5.29	2.42	0.29668	.	0.663946	0.14702	N	0.303507	T	0.71204	0.3312	L	0.54323	1.7	0.09310	N	0.999998	P	0.50943	0.94	P	0.45071	0.468	T	0.59306	-0.7479	10	0.33141	T	0.24	.	5.6635	0.17682	0.2297:0.1411:0.6292:0.0	.	605	Q9UPZ3	HPS5_HUMAN	Q	491;491;605	ENSP00000379552:P491Q;ENSP00000399590:P491Q;ENSP00000265967:P605Q	ENSP00000265967:P605Q	P	-	2	0	HPS5	18271070	0.998000	0.40836	0.138000	0.22173	0.039000	0.13416	0.994000	0.29693	0.336000	0.23639	-0.140000	0.14226	CCA		0.393	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1		NM_181507	
IL31	386653	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	122656992	122656992	+	Silent	SNP	T	T	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr12:122656992T>C	ENST00000377035.1	-	3	488	c.462A>G	c.(460-462)tcA>tcG	p.S154S		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	154					immune system process (GO:0002376)	extracellular space (GO:0005615)		p.S154S(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CAGAGGTCAATGATTTTAGTG	0.453																																																	1	Substitution - coding silent(1)	kidney(1)											126.0	118.0	121.0					12																	122656992		2203	4300	6503	SO:0001819	synonymous_variant	386653			AY499343	CCDS31919.1	12q24.31	2011-07-21			ENSG00000204671	ENSG00000204671		"""Interleukins and interleukin receptors"""	19372	protein-coding gene	gene with protein product		609509				15184896	Standard	NM_001014336		Approved	IL-31	uc001ubv.3	Q6EBC2	OTTHUMG00000168916	ENST00000377035.1:c.462A>G	12.37:g.122656992T>C			A2RUQ1	Silent	SNP	ENST00000377035.1	37	CCDS31919.1																																																																																				0.453	IL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401594.1		NM_001014336	
AJUBA	84962	hgsc.bcm.edu;ucsc.edu	37	14	23444054	23444054	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr14:23444054delG	ENST00000262713.2	-	6	1791	c.1416delC	c.(1414-1416)cccfs	p.P472fs	AJUBA_ENST00000397388.3_Frame_Shift_Del_p.P55fs|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Frame_Shift_Del_p.P472fs	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	472	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										TGACCTCAGAGGGGAGGATGG	0.577																																																	0													93.0	81.0	85.0					14																	23444054		2203	4300	6503	SO:0001589	frameshift_variant	0			AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1416delC	14.37:g.23444054delG	ENSP00000262713:p.Pro472fs		A8MX18|D3DS37	Frame_Shift_Del	DEL	ENST00000262713.2	37	CCDS9581.1																																																																																				0.577	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			
KIAA1217	56243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	24669919	24669919	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr10:24669919C>T	ENST00000376454.3	+	3	506	c.476C>T	c.(475-477)cCt>cTt	p.P159L	KIAA1217_ENST00000376452.3_Missense_Mutation_p.P159L|KIAA1217_ENST00000430453.2_Missense_Mutation_p.P80L|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P79L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P159L	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	159					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.P159L(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCTCCAACCCCTTTTTCCAGA	0.542																																																	1	Substitution - Missense(1)	kidney(1)											62.0	64.0	63.0					10																	24669919		2203	4300	6503	SO:0001583	missense	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.476C>T	10.37:g.24669919C>T	ENSP00000365637:p.Pro159Leu		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314615	0.81358	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453	T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.54	5.54	0.83059	.	0.222398	0.46758	D	0.000278	T	0.78336	0.4267	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;0.985;1.0;0.993	D;P;D;P	0.91635	0.999;0.786;0.999;0.89	T	0.78257	-0.2274	10	0.54805	T	0.06	.	19.4705	0.94961	0.0:1.0:0.0:0.0	.	159;159;159;159	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	L	79;159;159;159;159;9;80	ENSP00000365645:P79L;ENSP00000365639:P159L;ENSP00000392625:P159L;ENSP00000365637:P159L;ENSP00000365635:P159L;ENSP00000404798:P9L;ENSP00000389680:P80L	ENSP00000365635:P159L	P	+	2	0	KIAA1217	24709925	0.999000	0.42202	0.901000	0.35422	0.777000	0.43975	4.673000	0.61604	2.616000	0.88540	0.591000	0.81541	CCT		0.542	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2		NM_019590	
GPALPP1	55425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	45589098	45589098	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr13:45589098C>A	ENST00000379151.4	+	5	523	c.420C>A	c.(418-420)agC>agA	p.S140R	GPALPP1_ENST00000361121.2_Missense_Mutation_p.S140R|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_5'UTR	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	140								p.S140R(1)									AAACAGACAGCAGTGAAGATG	0.343																																																	1	Substitution - Missense(1)	kidney(1)											89.0	89.0	89.0					13																	45589098		2203	4300	6503	SO:0001583	missense	55425			AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.420C>A	13.37:g.45589098C>A	ENSP00000368447:p.Ser140Arg		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Missense_Mutation	SNP	ENST00000379151.4	37	CCDS9394.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198819	0.58126	.	.	ENSG00000133114	ENST00000379151;ENST00000361121	.	.	.	5.8	2.13	0.27403	.	0.304287	0.42548	D	0.000695	T	0.46983	0.1421	L	0.58583	1.82	0.53688	D	0.999976	P	0.47253	0.892	B	0.42798	0.398	T	0.34900	-0.9810	9	0.33141	T	0.24	0.0643	9.9208	0.41464	0.0:0.6368:0.0:0.3632	.	140	Q8IXQ4	K1704_HUMAN	R	140	.	ENSP00000355211:S140R	S	+	3	2	KIAA1704	44487098	0.984000	0.35163	0.992000	0.48379	0.969000	0.65631	0.145000	0.16157	0.364000	0.24374	0.585000	0.79938	AGC		0.343	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2		NM_018559	
KIRREL	55243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158057581	158057581	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:158057581C>G	ENST00000359209.6	+	6	765	c.698C>G	c.(697-699)aCg>aGg	p.T233R	KIRREL_ENST00000416935.2_Missense_Mutation_p.T133R|KIRREL_ENST00000360089.4_Missense_Mutation_p.T69R|KIRREL_ENST00000368173.3_Missense_Mutation_p.T233R|KIRREL_ENST00000392272.2_Missense_Mutation_p.T130R|KIRREL_ENST00000368172.1_Missense_Mutation_p.T31R			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	233	Ig-like C2-type 3.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.T233R(2)|p.T69R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GAGCCACAGACGGTGCAGGAG	0.577											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					3	Substitution - Missense(3)	kidney(3)											80.0	63.0	69.0					1																	158057581		2203	4300	6503	SO:0001583	missense	55243			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.698C>G	1.37:g.158057581C>G	ENSP00000352138:p.Thr233Arg	1790	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002630	0.93227	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69	5.62	5.62	0.85841	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44483	D	0.000444	T	0.21881	0.0527	L	0.58101	1.795	0.58432	D	0.999998	D;D;D;D	0.71674	0.988;0.994;0.998;0.998	D;D;D;D	0.70487	0.919;0.969;0.933;0.933	T	0.01753	-1.1281	10	0.18710	T	0.47	-15.1113	17.1484	0.86772	0.0:1.0:0.0:0.0	.	133;69;31;233	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	R	69;233;130;233;133;31	ENSP00000353202:T69R;ENSP00000357155:T233R;ENSP00000376098:T130R;ENSP00000352138:T233R;ENSP00000389674:T133R;ENSP00000357154:T31R	ENSP00000352138:T233R	T	+	2	0	KIRREL	156324205	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	7.335000	0.79234	2.644000	0.89710	0.563000	0.77884	ACG		0.577	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3		NM_018240	
KIF14	9928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200587653	200587653	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:200587653A>T	ENST00000367350.4	-	2	637	c.199T>A	c.(199-201)Tat>Aat	p.Y67N		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	67	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.Y67N(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GAAATAACATAAGTTCTATTT	0.398																																																	1	Substitution - Missense(1)	kidney(1)											103.0	94.0	97.0					1																	200587653		2203	4300	6503	SO:0001583	missense	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.199T>A	1.37:g.200587653A>T	ENSP00000356319:p.Tyr67Asn		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.791677	0.70452	.	.	ENSG00000118193	ENST00000367350	D	0.85088	-1.94	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000017	D	0.88749	0.6521	L	0.34521	1.04	0.48975	D	0.999739	D	0.89917	1.0	D	0.87578	0.998	D	0.89603	0.3836	10	0.59425	D	0.04	.	16.4046	0.83654	1.0:0.0:0.0:0.0	.	67	Q15058	KIF14_HUMAN	N	67	ENSP00000356319:Y67N	ENSP00000356319:Y67N	Y	-	1	0	KIF14	198854276	1.000000	0.71417	0.656000	0.29637	0.446000	0.32137	6.863000	0.75489	2.277000	0.76020	0.533000	0.62120	TAT		0.398	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1		NM_014875	
LAMA1	284217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	7036007	7036007	+	Silent	SNP	C	C	T	rs552854758		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr18:7036007C>T	ENST00000389658.3	-	13	1911	c.1818G>A	c.(1816-1818)tcG>tcA	p.S606S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	606	Laminin IV type A 1. {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.S606S(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)				CGTCAGCATGCGACATGAGGT	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		22506	0.001		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											192.0	129.0	150.0					18																	7036007		2203	4300	6503	SO:0001819	synonymous_variant	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.1818G>A	18.37:g.7036007C>T				Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.438	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		NM_005559	
LIMS2	55679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128414990	128414990	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:128414990C>G	ENST00000355119.4	-	2	323	c.158G>C	c.(157-159)gGg>gCg	p.G53A	LIMS2_ENST00000410011.1_Missense_Mutation_p.G48A|LIMS2_ENST00000324938.5_Missense_Mutation_p.G77A|LIMS2_ENST00000545738.2_Missense_Mutation_p.G75A|LIMS2_ENST00000409455.1_Missense_Mutation_p.G48A|LIMS2_ENST00000409808.2_Missense_Mutation_p.G48A	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	53	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.G77A(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		ATAGAAGAGCCCCTCGGGGAA	0.637																																																	1	Substitution - Missense(1)	kidney(1)											74.0	69.0	71.0					2																	128414990		2203	4300	6503	SO:0001583	missense	55679			AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.158G>C	2.37:g.128414990C>G	ENSP00000347240:p.Gly53Ala		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Missense_Mutation	SNP	ENST00000355119.4	37	CCDS54395.1	.	.	.	.	.	.	.	.	.	.	.	27.6	4.844823	0.91197	.	.	ENSG00000072163	ENST00000545738;ENST00000355119;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000544917;ENST00000422034	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.25	5.25	0.73442	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.93943	0.8061	M	0.83692	2.655	0.80722	D	1	P;D;D	0.89917	0.917;0.999;1.0	P;D;D	0.83275	0.712;0.989;0.996	D	0.93648	0.6970	10	0.45353	T	0.12	.	18.8407	0.92183	0.0:1.0:0.0:0.0	.	75;53;77	F5H6E6;Q7Z4I7;Q7Z4I7-2	.;LIMS2_HUMAN;.	A	75;53;77;48;48;48;48;75;48	ENSP00000443794:G75A;ENSP00000347240:G53A;ENSP00000326888:G77A;ENSP00000386383:G48A;ENSP00000386637:G48A;ENSP00000387002:G48A	ENSP00000326888:G77A	G	-	2	0	LIMS2	128131460	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.376000	0.79658	2.449000	0.82847	0.462000	0.41574	GGG		0.637	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2		NM_017980	
Unknown	0	broad.mit.edu	37	5	99715528	99715528	+	IGR	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr5:99715528C>T								RNU6-1119P (226045 upstream) : RP11-346J10.1 (21616 downstream)																							AGCGGACAGTCGAAGCCCTTC	0.607																																																	0																																										SO:0001628	intergenic_variant	100133050																															5.37:g.99715528C>T				RNA	SNP		37																																																																																				0	0.607									
LTBP1	4052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	33413692	33413692	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:33413692A>C	ENST00000404816.2	+	7	1828	c.1475A>C	c.(1474-1476)gAa>gCa	p.E492A	LTBP1_ENST00000418533.2_Missense_Mutation_p.E166A|LTBP1_ENST00000402934.1_Missense_Mutation_p.E166A|LTBP1_ENST00000407925.1_Missense_Mutation_p.E166A|LTBP1_ENST00000404525.1_Missense_Mutation_p.E166A|LTBP1_ENST00000354476.3_Missense_Mutation_p.E492A|LTBP1_ENST00000390003.4_Missense_Mutation_p.E166A			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	492					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.E492A(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CATCCTCCTGAAGCTTCCGTC	0.438																																																	1	Substitution - Missense(1)	kidney(1)											89.0	87.0	88.0					2																	33413692		2203	4300	6503	SO:0001583	missense	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1475A>C	2.37:g.33413692A>C	ENSP00000386043:p.Glu492Ala		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195318	0.78902	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.85411	-1.98;-1.95;-1.78;-1.75;-1.82;-1.81;-1.76	5.38	5.38	0.77491	.	.	.	.	.	D	0.91112	0.7202	M	0.66297	2.02	0.80722	D	1	D;P;D;D;D;D	0.76494	0.994;0.9;0.999;0.99;0.971;0.997	P;P;D;P;P;P	0.71870	0.81;0.516;0.975;0.848;0.775;0.907	D	0.92127	0.5709	9	0.87932	D	0	.	15.7502	0.77980	1.0:0.0:0.0:0.0	.	492;166;166;166;166;492	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	A	492;492;181;166;166;166;166;166	ENSP00000386043:E492A;ENSP00000346467:E492A;ENSP00000374653:E166A;ENSP00000393057:E166A;ENSP00000384373:E166A;ENSP00000385359:E166A;ENSP00000384091:E166A	ENSP00000346467:E492A	E	+	2	0	LTBP1	33267196	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	8.549000	0.90672	2.192000	0.70111	0.449000	0.29647	GAA		0.438	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2		NM_206943	
MACF1	23499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	39909151	39909151	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:39909151C>G	ENST00000372915.3	+	78	19120	c.19033C>G	c.(19033-19035)Ctc>Gtc	p.L6345V	MACF1_ENST00000539005.1_Missense_Mutation_p.L4257V|MACF1_ENST00000317713.7_Missense_Mutation_p.L4387V|MACF1_ENST00000545844.1_Missense_Mutation_p.L4387V|MACF1_ENST00000564288.1_Missense_Mutation_p.L6446V|MACF1_ENST00000361689.2_Missense_Mutation_p.L4387V|MACF1_ENST00000289893.4_Missense_Mutation_p.L4889V|MACF1_ENST00000567887.1_Missense_Mutation_p.L6483V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6345					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L4387V(1)|p.L4889V(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAAGATTTCCTCTTGGAACT	0.413																																																	2	Substitution - Missense(2)	kidney(2)											88.0	90.0	89.0					1																	39909151		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19033C>G	1.37:g.39909151C>G	ENSP00000362006:p.Leu6345Val		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.441570|4.441570	0.83993|0.83993	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.52754|.	0.65;0.65;0.65;0.65;0.65;0.65|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.56097|.	D|.	0.000039|.	T|T	0.70911|0.70911	0.3278|0.3278	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;P|.	0.56035|.	0.974;0.728|.	P;P|.	0.55615|.	0.78;0.561|.	T|T	0.67067|0.67067	-0.5764|-0.5764	10|5	0.46703|.	T|.	0.11|.	.|.	15.5636|15.5636	0.76269|0.76269	0.1378:0.8622:0.0:0.0|0.1378:0.8622:0.0:0.0	.|.	6345;4387|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	V|R	4387;6345;4387;4387;4257;4889|3390	ENSP00000439537:L4387V;ENSP00000362006:L6345V;ENSP00000354573:L4387V;ENSP00000313438:L4387V;ENSP00000444364:L4257V;ENSP00000289893:L4889V|.	ENSP00000289893:L4889V|.	L|P	+|+	1|2	0|0	MACF1|MACF1	39681738|39681738	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.930000|5.930000	0.70104|0.70104	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CTC|CCT		0.413	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044	
MAGEC1	9947	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	140994794	140994794	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chrX:140994794G>C	ENST00000285879.4	+	4	1890	c.1604G>C	c.(1603-1605)aGt>aCt	p.S535T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	535								p.S535T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGTTCCAAGTCTTCCTGAG	0.527										HNSCC(15;0.026)																																							1	Substitution - Missense(1)	kidney(1)											141.0	148.0	146.0					X																	140994794		2203	4300	6503	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1604G>C	X.37:g.140994794G>C	ENSP00000285879:p.Ser535Thr		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	4.791	0.146998	0.09134	.	.	ENSG00000155495	ENST00000285879	T	0.02421	4.3	.	.	.	.	.	.	.	.	T	0.01800	0.0057	N	0.08118	0	0.09310	N	0.999997	P	0.38110	0.618	B	0.39706	0.307	T	0.46470	-0.9189	8	0.87932	D	0	.	3.4325	0.07433	0.6531:0.0:0.3469:0.0	.	535	O60732	MAGC1_HUMAN	T	535	ENSP00000285879:S535T	ENSP00000285879:S535T	S	+	2	0	MAGEC1	140822460	0.031000	0.19500	0.006000	0.13384	0.006000	0.05464	1.562000	0.36353	0.139000	0.18822	0.141000	0.15989	AGT		0.527	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1		NM_005462	
MANSC1	54682	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	12483626	12483626	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr12:12483626A>C	ENST00000535902.1	-	4	1194	c.631T>G	c.(631-633)Tct>Gct	p.S211A	MANSC1_ENST00000396349.3_Missense_Mutation_p.S177A|MANSC1_ENST00000545735.1_Missense_Mutation_p.S130A			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	211						integral component of membrane (GO:0016021)		p.S211A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TCTTGATCAGAGGAAAATTGT	0.468																																																	1	Substitution - Missense(1)	kidney(1)											90.0	94.0	93.0					12																	12483626		2203	4300	6503	SO:0001583	missense	54682			AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.631T>G	12.37:g.12483626A>C	ENSP00000438205:p.Ser211Ala		Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	A	9.519	1.107678	0.20714	.	.	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.24151	2.2;2.14;1.87	4.48	-1.47	0.08772	.	0.509796	0.14844	N	0.295075	T	0.15478	0.0373	L	0.32530	0.975	0.09310	N	1	B;B;B	0.17667	0.005;0.005;0.023	B;B;B	0.19666	0.004;0.004;0.026	T	0.18085	-1.0348	10	0.45353	T	0.12	-4.8657	4.8528	0.13545	0.3962:0.1714:0.4324:0.0	.	145;177;211	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	A	211;177;130;130	ENSP00000438205:S211A;ENSP00000379638:S177A;ENSP00000445303:S130A	ENSP00000347765:S130A	S	-	1	0	MANSC1	12374893	0.012000	0.17670	0.003000	0.11579	0.007000	0.05969	0.179000	0.16840	-0.251000	0.09542	0.402000	0.26972	TCT		0.468	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1		NM_018050	
MAPK13	5603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36103575	36103575	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr6:36103575G>T	ENST00000211287.4	+	4	616	c.354G>T	c.(352-354)atG>atT	p.M118I	MAPK13_ENST00000373766.5_Missense_Mutation_p.M118I|MAPK13_ENST00000373759.1_Missense_Mutation_p.M40I|MAPK13_ENST00000373761.6_Missense_Mutation_p.M118I|MAPK13_ENST00000490334.1_3'UTR	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.M118I(2)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						AGAAGATCATGGGGATGGAGT	0.582																																																	2	Substitution - Missense(2)	kidney(2)											175.0	144.0	154.0					6																	36103575		2203	4300	6503	SO:0001583	missense	5603			Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.354G>T	6.37:g.36103575G>T	ENSP00000211287:p.Met118Ile		O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Missense_Mutation	SNP	ENST00000211287.4	37	CCDS4818.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500256	0.26861	.	.	ENSG00000156711	ENST00000373761;ENST00000211287;ENST00000373770;ENST00000373766;ENST00000373759	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	4.71	4.71	0.59529	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.178653	0.38897	N	0.001539	T	0.09024	0.0223	N	0.00339	-1.615	0.45594	D	0.998533	B	0.06786	0.001	B	0.06405	0.002	T	0.43294	-0.9400	10	0.02654	T	1	-26.9637	17.7094	0.88317	0.0:0.0:1.0:0.0	.	118	O15264	MK13_HUMAN	I	118;118;118;118;40	ENSP00000362866:M118I;ENSP00000211287:M118I;ENSP00000362871:M118I;ENSP00000362864:M40I	ENSP00000211287:M118I	M	+	3	0	MAPK13	36211553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.668000	0.61568	2.199000	0.70637	0.555000	0.69702	ATG		0.582	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1			
MAP3K4	4216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	161470927	161470927	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr6:161470927G>T	ENST00000392142.4	+	3	1771	c.1623G>T	c.(1621-1623)aaG>aaT	p.K541N	MAP3K4_ENST00000366920.2_Missense_Mutation_p.K541N|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K541N|MAP3K4_ENST00000366919.2_Missense_Mutation_p.K541N	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	541					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.K541N(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGTTAAGAAAGTTAATTTTAA	0.428																																																	2	Substitution - Missense(2)	kidney(2)											86.0	91.0	89.0					6																	161470927		2203	4300	6503	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1623G>T	6.37:g.161470927G>T	ENSP00000375986:p.Lys541Asn		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023676	0.54683	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.59	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	M	0.77820	2.39	0.45995	D	0.998802	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.27088	-1.0084	10	0.87932	D	0	-41.2722	10.7779	0.46361	0.2782:0.0:0.7218:0.0	.	541;541	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	N	541	ENSP00000355886:K541N;ENSP00000375986:K541N;ENSP00000355887:K541N;ENSP00000297332:K541N	ENSP00000297332:K541N	K	+	3	2	MAP3K4	161390917	1.000000	0.71417	0.758000	0.31321	0.997000	0.91878	2.019000	0.41001	1.367000	0.46095	0.655000	0.94253	AAG		0.428	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			
MAP3K4	4216	broad.mit.edu;hgsc.bcm.edu	37	6	161507426	161507427	+	Missense_Mutation	DNP	GA	GA	AT	rs567053708		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr6:161507426_161507427GA>AT	ENST00000392142.4	+	8	2536_2537	c.2388_2389GA>AT	c.(2386-2391)gaGAtc>gaATtc	p.I797F	MAP3K4_ENST00000366920.2_Missense_Mutation_p.I797F|MAP3K4_ENST00000348824.7_Missense_Mutation_p.I797F|MAP3K4_ENST00000366919.2_Missense_Mutation_p.I797F	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	797					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.E796>?(2)|p.E796E(2)|p.I797F(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CTGTTATAGAGATCAGTCGAGC	0.441																																																	6	Substitution - Missense(2)|Substitution - coding silent(2)|Complex(2)	kidney(6)																																								SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	Exception_encountered	6.37:g.161507426_161507427delinsAT	ENSP00000375986:p.Ile797Phe		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent|Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1																																																																																				0.441	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			
MAST3	23031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18255405	18255405	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr19:18255405A>G	ENST00000262811.6	+	22	2627	c.2627A>G	c.(2626-2628)aAg>aGg	p.K876R	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	876							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.K898R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCCCTGAGAAGTCCAGAGCC	0.687																																																	1	Substitution - Missense(1)	kidney(1)											34.0	42.0	40.0					19																	18255405		2052	4191	6243	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2627A>G	19.37:g.18255405A>G	ENSP00000262811:p.Lys876Arg		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	A	8.743	0.919506	0.17982	.	.	ENSG00000099308	ENST00000262811	T	0.65916	-0.18	4.57	4.57	0.56435	.	.	.	.	.	T	0.53481	0.1799	M	0.65975	2.015	0.41357	D	0.987401	B	0.18741	0.03	B	0.12156	0.007	T	0.46569	-0.9182	9	0.07325	T	0.83	-30.2467	9.4009	0.38431	0.9113:0.0:0.0887:0.0	.	876	O60307	MAST3_HUMAN	R	876	ENSP00000262811:K876R	ENSP00000262811:K876R	K	+	2	0	MAST3	18116405	0.993000	0.37304	0.868000	0.34077	0.823000	0.46562	3.094000	0.50227	1.706000	0.51276	0.402000	0.26972	AAG		0.687	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2		XM_038150	
SND1	27044	broad.mit.edu;ucsc.edu	37	7	127721977	127721977	+	Intron	SNP	A	A	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr7:127721977A>G	ENST00000354725.3	+	18	2304				MIR593_ENST00000384856.1_RNA	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1						gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GGGAGCAAGGAGTGGTGCTGG	0.562																																																	0													157.0	147.0	150.0					7																	127721977		1568	3582	5150	SO:0001627	intron_variant	693178				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2110+424A>G	7.37:g.127721977A>G			Q13122|Q96AG0	RNA	SNP	ENST00000354725.3	37	CCDS34747.1																																																																																				0.562	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1		NM_014390	
MMP10	4319	hgsc.bcm.edu;ucsc.edu	37	11	102650395	102650395	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:102650395delT	ENST00000279441.4	-	2	223	c.187delA	c.(187-189)atcfs	p.I63fs		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	63					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	ATTCCTTGGATTTTTTTAACA	0.423																																																	0													94.0	82.0	86.0					11																	102650395		2203	4299	6502	SO:0001589	frameshift_variant	4319			X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.187delA	11.37:g.102650395delT	ENSP00000279441:p.Ile63fs		B2R9X9|Q53HH9	Frame_Shift_Del	DEL	ENST00000279441.4	37	CCDS8321.1																																																																																				0.423	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			
MRE11A	4361	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	94219122	94219122	+	Silent	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:94219122G>T	ENST00000323929.3	-	4	504	c.282C>A	c.(280-282)ctC>ctA	p.L94L	MRE11A_ENST00000407439.3_Silent_p.L97L|MRE11A_ENST00000393241.4_Silent_p.L94L|MRE11A_ENST00000536144.1_5'UTR|MRE11A_ENST00000323977.3_Silent_p.L94L|MRE11A_ENST00000540013.1_Silent_p.L94L	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	94					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.L94L(2)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				ACTGATCACTGAGAATTTCAA	0.338								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																																								2	Substitution - coding silent(2)	kidney(2)											92.0	88.0	90.0					11																	94219122		2201	4298	6499	SO:0001819	synonymous_variant	4361	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.282C>A	11.37:g.94219122G>T			O43475	Silent	SNP	ENST00000323929.3	37	CCDS8299.1																																																																																				0.338	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3		NM_005591	
MYH4	4622	hgsc.bcm.edu;ucsc.edu	37	17	10356638	10356638	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr17:10356638delT	ENST00000255381.2	-	24	3052	c.2942delA	c.(2941-2943)aacfs	p.N981fs	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	981					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCTGTGAGGTTTTTCACCTT	0.448																																																	0													148.0	137.0	141.0					17																	10356638		2203	4300	6503	SO:0001589	frameshift_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2942delA	17.37:g.10356638delT	ENSP00000255381:p.Asn981fs			Frame_Shift_Del	DEL	ENST00000255381.2	37	CCDS11154.1																																																																																				0.448	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1		NM_017533	
MYO18B	84700	broad.mit.edu;hgsc.bcm.edu	37	22	26164741	26164741	+	Silent	SNP	A	A	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr22:26164741A>T	ENST00000407587.2	+	4	1027	c.858A>T	c.(856-858)ggA>ggT	p.G286G	MYO18B_ENST00000536101.1_Silent_p.G286G|MYO18B_ENST00000335473.7_Silent_p.G286G			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	286						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.G286G(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGAAGGAGGGAGCAGAGCCCA	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											20.0	24.0	22.0					22																	26164741		1978	4146	6124	SO:0001819	synonymous_variant	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.858A>T	22.37:g.26164741A>T			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37																																																																																					0.617	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1		NM_032608	
MROH6	642475	hgsc.bcm.edu;ucsc.edu	37	8	144657613	144657613	+	5'Flank	DEL	A	A	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr8:144657613delA	ENST00000398882.3	-	0	0				NAPRT1_ENST00000449291.2_Frame_Shift_Del_p.F424fs|NAPRT1_ENST00000435154.3_Frame_Shift_Del_p.F424fs|NAPRT1_ENST00000276844.7_Frame_Shift_Del_p.F424fs|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000426292.3_Frame_Shift_Del_p.F424fs	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6																		CAGGAGCCGGAAAGCAGCCTT	0.657																																																	0													56.0	64.0	61.0					8																	144657613		2202	4299	6501	SO:0001631	upstream_gene_variant	93100			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164		8.37:g.144657613delA	Exception_encountered		A8MWB1	Frame_Shift_Del	DEL	ENST00000398882.3	37	CCDS47928.1																																																																																				0.657	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3		NM_001100878	
NEDD4	4734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	56208025	56208025	+	Silent	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr15:56208025G>A	ENST00000508342.1	-	1	1304	c.1005C>T	c.(1003-1005)ccC>ccT	p.P335P	NEDD4_ENST00000506154.1_Silent_p.P335P|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Silent_p.P335P	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	335					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.P335P(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTACTTCTCCGGGGGTACAAA	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	74.0	72.0					15																	56208025		2188	4288	6476	SO:0001819	synonymous_variant	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1005C>T	15.37:g.56208025G>A			A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37																																																																																					0.423	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1		NM_198400	
NEURL4	84461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7224466	7224466	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr17:7224466C>G	ENST00000399464.2	-	20	3340	c.3325G>C	c.(3325-3327)Gag>Cag	p.E1109Q	NEURL4_ENST00000315614.7_Missense_Mutation_p.E1107Q|RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000570460.1_Missense_Mutation_p.E1085Q|NEURL4_ENST00000574120.1_5'Flank	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1109						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E1109Q(1)|p.E1107Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCATCCTCCTCGCCCTCACTG	0.627																																																	2	Substitution - Missense(2)	kidney(2)											60.0	64.0	63.0					17																	7224466		2191	4285	6476	SO:0001583	missense	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3325G>C	17.37:g.7224466C>G	ENSP00000382390:p.Glu1109Gln		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984266	0.35036	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.32023	1.47;1.47	4.73	4.73	0.59995	.	0.182125	0.47093	D	0.000258	T	0.27098	0.0664	L	0.33485	1.01	0.42178	D	0.991672	P;P	0.37330	0.59;0.455	B;B	0.39935	0.314;0.167	T	0.03641	-1.1017	10	0.19147	T	0.46	-14.7204	16.648	0.85181	0.0:1.0:0.0:0.0	.	1107;1109	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	Q	1107;1109	ENSP00000319826:E1107Q;ENSP00000382390:E1109Q	ENSP00000319826:E1107Q	E	-	1	0	NEURL4	7165190	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	6.244000	0.72391	2.456000	0.83038	0.563000	0.77884	GAG		0.627	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2		NM_032442	
NFAT5	10725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	69681465	69681465	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr16:69681465A>T	ENST00000354436.2	+	3	1052	c.734A>T	c.(733-735)aAa>aTa	p.K245I	NFAT5_ENST00000566899.1_Missense_Mutation_p.K169I|NFAT5_ENST00000349945.1_Missense_Mutation_p.K169I|NFAT5_ENST00000567239.1_Missense_Mutation_p.K263I|NFAT5_ENST00000393742.2_Missense_Mutation_p.K169I|NFAT5_ENST00000432919.1_Missense_Mutation_p.K263I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	245					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K263I(1)|p.K169I(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACGGACAACAAAGGCAACTCA	0.363																																																	2	Substitution - Missense(2)	kidney(2)											70.0	69.0	70.0					16																	69681465		2197	4294	6491	SO:0001583	missense	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.734A>T	16.37:g.69681465A>T	ENSP00000346420:p.Lys245Ile		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.907815	0.52333	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.50001	0.79;0.76;0.79;0.76	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	L	0.29908	0.895	0.80722	D	1	P;D;D	0.89917	0.726;0.999;1.0	B;D;D	0.87578	0.343;0.998;0.975	T	0.62025	-0.6941	10	0.66056	D	0.02	-3.3687	15.5357	0.76001	1.0:0.0:0.0:0.0	.	263;245;263	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	I	263;263;169;245;169	ENSP00000396538:K263I;ENSP00000338806:K169I;ENSP00000346420:K245I;ENSP00000377343:K169I	ENSP00000338806:K169I	K	+	2	0	NFAT5	68238966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.544000	0.82117	2.061000	0.61500	0.477000	0.44152	AAA		0.363	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2		NM_138714	
NOM1	64434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	156752790	156752790	+	Silent	SNP	T	T	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr7:156752790T>G	ENST00000275820.3	+	4	1569	c.1554T>G	c.(1552-1554)gcT>gcG	p.A518A	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	518	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A518A(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAGATGATGCTTTATCACTTA	0.438																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	83.0	82.0					7																	156752790		2203	4300	6503	SO:0001819	synonymous_variant	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1554T>G	7.37:g.156752790T>G			Q96I08	Silent	SNP	ENST00000275820.3	37	CCDS34787.1																																																																																				0.438	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1		NM_138400	
NRD1	4898	broad.mit.edu;ucsc.edu	37	1	52287168	52287169	+	Splice_Site	INS	-	-	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:52287168_52287169insC	ENST00000354831.7	-	10	1611		c.e10+1		NRD1_ENST00000352171.7_Splice_Site|NRD1_ENST00000544028.1_Splice_Site|NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000485608.1_Splice_Site	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)						cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TAAATATCTTACTTGTTTGGTA	0.371																																																	0																																										SO:0001630	splice_region_variant	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1421+1->G	1.37:g.52287169_52287169dupC			A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Splice_Site	INS	ENST00000354831.7	37	CCDS559.1																																																																																				0.371	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1		NM_002525	Intron
NUDT10	170685	broad.mit.edu;hgsc.bcm.edu	37	X	51075924	51075924	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chrX:51075924T>C	ENST00000376006.3	+	2	327	c.107T>C	c.(106-108)gTg>gCg	p.V36A	NUDT10_ENST00000356450.2_Missense_Mutation_p.V36A	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.V36A(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					GTCCTGTTAGTGAGTAGCAGC	0.687																																					NSCLC(90;1817 2035 37909 38249)												1	Substitution - Missense(1)	kidney(1)											27.0	27.0	27.0					X																	51075924		2203	4299	6502	SO:0001583	missense	170685			AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.107T>C	X.37:g.51075924T>C	ENSP00000365174:p.Val36Ala		Q8NBN1|Q8NCB9|Q8NG25	Missense_Mutation	SNP	ENST00000376006.3	37	CCDS35278.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281301	0.80692	.	.	ENSG00000122824	ENST00000376006;ENST00000356450	T;T	0.10477	2.87;2.87	3.14	3.14	0.36123	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.28300	0.0699	M	0.81112	2.525	0.42249	D	0.991965	D	0.89917	1.0	D	0.91635	0.999	T	0.38001	-0.9681	9	0.87932	D	0	-29.8037	4.5698	0.12205	0.0:0.1538:0.0:0.8462	.	36	Q8NFP7	NUD10_HUMAN	A	36	ENSP00000365174:V36A;ENSP00000348831:V36A	ENSP00000348831:V36A	V	+	2	0	NUDT10	51092664	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.429000	0.52800	1.295000	0.44724	0.350000	0.21858	GTG		0.687	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1		NM_153183	
OR6C2	341416	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	55846275	55846275	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr12:55846275A>G	ENST00000322678.1	+	1	278	c.278A>G	c.(277-279)aAt>aGt	p.N93S	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	93					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N93S(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						ATTACCTACAATGCTTGTGCC	0.378																																																	1	Substitution - Missense(1)	kidney(1)											147.0	147.0	147.0					12																	55846275		2203	4299	6502	SO:0001583	missense	341416			AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.278A>G	12.37:g.55846275A>G	ENSP00000323606:p.Asn93Ser			Missense_Mutation	SNP	ENST00000322678.1	37	CCDS31824.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.373624	0.24857	.	.	ENSG00000179695	ENST00000322678	T	0.01572	4.76	5.42	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.306880	0.28301	N	0.015846	T	0.01254	0.0041	N	0.17723	0.515	0.09310	N	1	B	0.21381	0.055	B	0.20384	0.029	T	0.48843	-0.8999	10	0.56958	D	0.05	.	1.1561	0.01796	0.5325:0.154:0.1653:0.1482	.	93	Q9NZP2	OR6C2_HUMAN	S	93	ENSP00000323606:N93S	ENSP00000323606:N93S	N	+	2	0	OR6C2	54132542	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	-0.898000	0.04105	0.510000	0.28216	0.496000	0.49642	AAT		0.378	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1		NM_054105	
OR8G5	219865	broad.mit.edu;hgsc.bcm.edu	37	11	124135620	124135620	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:124135620G>A	ENST00000524943.2	+	1	898	c.898G>A	c.(898-900)Gtc>Atc	p.V300I	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		GCCATCATCTGTCAGCTCCAT	0.502																																					Ovarian(169;523 1969 8640 31295 51256)												0													105.0	104.0	104.0					11																	124135620		2106	4258	6364	SO:0001583	missense	219865			BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"""GPCR / Class A : Olfactory receptors"""	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.898G>A	11.37:g.124135620G>A	ENSP00000477014:p.Val300Ile		B2RND3|Q6IEU6	Missense_Mutation	SNP	ENST00000524943.2	37																																																																																					0.502	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387283.2		NM_001005198	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52682459	52682459	+	Splice_Site	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:52682459C>T	ENST00000296302.7	-	7	716		c.e7-1		PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGCTTCCATTCTACAATAAAC	0.338			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Unknown(3)	kidney(3)											140.0	136.0	137.0					3																	52682459		2203	4300	6503	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.715-1G>A	3.37:g.52682459C>T			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	25.5	4.648243	0.87958	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3965	0.94608	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52657499	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.660000	0.74417	2.678000	0.91216	0.650000	0.86243	.		0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	Intron
PIK3C2A	5286	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	17118795	17118795	+	Silent	SNP	A	A	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:17118795A>G	ENST00000265970.7	-	26	4134	c.4135T>C	c.(4135-4137)Ttg>Ctg	p.L1379L	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Silent_p.L999L	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1379	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.L1379L(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						ATGCTTCCCAAACTTGATTCA	0.338																																																	1	Substitution - coding silent(1)	kidney(1)											82.0	78.0	79.0					11																	17118795		2200	4293	6493	SO:0001819	synonymous_variant	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4135T>C	11.37:g.17118795A>G			B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	CCDS7824.1																																																																																				0.338	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1		NM_002645	
PLCG1	5335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	39796506	39796506	+	Silent	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr20:39796506G>T	ENST00000373271.1	+	20	2721	c.2316G>T	c.(2314-2316)ggG>ggT	p.G772G	PLCG1_ENST00000244007.3_Silent_p.G772G|PLCG1_ENST00000373272.2_Silent_p.G772G	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	772					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.G772G(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CTGACTACGGGGCCCTGTATG	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											73.0	66.0	68.0					20																	39796506		2203	4300	6503	SO:0001819	synonymous_variant	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2316G>T	20.37:g.39796506G>T			B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	ENST00000373271.1	37	CCDS13314.1																																																																																				0.542	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3		NM_182811	
PLEKHA2	59339	broad.mit.edu	37	8	38827144	38827144	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr8:38827144C>A	ENST00000420274.1	+	12	1355	c.1121C>A	c.(1120-1122)tCa>tAa	p.S374*	PLEKHA2_ENST00000388745.4_3'UTR|CTD-2544N14.3_ENST00000520863.1_RNA|PLEKHA2_ENST00000521746.1_Intron	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	374					positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)	p.S374*(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			GGAGACACTTCAGAGGACTCC	0.652																																																	1	Substitution - Nonsense(1)	kidney(1)											18.0	22.0	21.0					8																	38827144		1903	4111	6014	SO:0001587	stop_gained	59339			AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"""Pleckstrin homology (PH) domain containing"""	14336	protein-coding gene	gene with protein product	"""tandem PH Domain containing protein-2"""	607773	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"""			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000420274.1:c.1121C>A	8.37:g.38827144C>A	ENSP00000393860:p.Ser374*			Nonsense_Mutation	SNP	ENST00000420274.1	37		.	.	.	.	.	.	.	.	.	.	C	22.0	4.225039	0.79576	.	.	ENSG00000169499	ENST00000420274;ENST00000535929	.	.	.	5.81	3.08	0.35506	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	10.6229	0.45491	0.0:0.7915:0.0:0.2085	.	.	.	.	X	374;324	.	ENSP00000393860:S374X	S	+	2	0	PLEKHA2	38946301	0.000000	0.05858	0.034000	0.17996	0.033000	0.12548	0.651000	0.24873	0.379000	0.24794	0.655000	0.94253	TCA		0.652	PLEKHA2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_021623	
PLS1	5357	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	142430381	142430381	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:142430381A>T	ENST00000337777.3	+	15	1881	c.1668A>T	c.(1666-1668)ttA>ttT	p.L556F	PLS1_ENST00000497002.1_Missense_Mutation_p.L556F|PLS1_ENST00000457734.2_Missense_Mutation_p.L556F	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	556	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.L556F(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TCCTAGATTTAATAGATGCCA	0.333																																																	1	Substitution - Missense(1)	kidney(1)											83.0	82.0	82.0					3																	142430381		2203	4300	6503	SO:0001583	missense	5357			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1668A>T	3.37:g.142430381A>T	ENSP00000336831:p.Leu556Phe		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.888263	0.72524	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	D;D;D	0.98455	-4.94;-4.94;-4.94	5.92	3.56	0.40772	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98950	0.9643	M	0.91249	3.19	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.99000	1.0811	10	0.87932	D	0	-8.7177	10.154	0.42812	0.8661:0.0:0.1339:0.0	.	556	Q14651	PLSI_HUMAN	F	556	ENSP00000387890:L556F;ENSP00000336831:L556F;ENSP00000418700:L556F	ENSP00000336831:L556F	L	+	3	2	PLS1	143913071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.642000	0.46596	0.510000	0.28216	0.528000	0.53228	TTA		0.333	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1		NM_002670	
PODXL	5420	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	131191353	131191353	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr7:131191353C>G	ENST00000378555.3	-	6	1481	c.1234G>C	c.(1234-1236)Gaa>Caa	p.E412Q	PODXL_ENST00000322985.9_Missense_Mutation_p.E380Q|PODXL_ENST00000537928.1_Missense_Mutation_p.E380Q|PODXL_ENST00000541194.1_Missense_Mutation_p.E414Q			O00592	PODXL_HUMAN	podocalyxin-like	412					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.E412Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATAGTGATTTCTTTGACGACC	0.582											OREG0018320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											112.0	111.0	111.0					7																	131191353		2203	4300	6503	SO:0001583	missense	5420				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1234G>C	7.37:g.131191353C>G	ENSP00000367817:p.Glu412Gln	1585	A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910900	0.33721	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.51	-1.15	0.09709	.	0.933571	0.08930	N	0.873146	T	0.10380	0.0254	N	0.16478	0.41	0.09310	N	1	P;P	0.38551	0.582;0.636	B;B	0.35813	0.134;0.211	T	0.25676	-1.0125	10	0.33940	T	0.23	-4.8581	4.7852	0.13222	0.0:0.3721:0.3311:0.2969	.	380;412	O00592-2;O00592	.;PODXL_HUMAN	Q	414;380;370;412;380	ENSP00000440518:E414Q;ENSP00000442655:E380Q;ENSP00000367817:E412Q;ENSP00000319782:E380Q	ENSP00000319782:E380Q	E	-	1	0	PODXL	130841893	0.031000	0.19500	0.005000	0.12908	0.092000	0.18411	-0.274000	0.08537	-0.123000	0.11745	0.561000	0.74099	GAA		0.582	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2		NM_001018111	
POLG	5428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	89869918	89869918	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr15:89869918C>T	ENST00000268124.5	-	9	1970	c.1637G>A	c.(1636-1638)cGc>cAc	p.R546H	POLG_ENST00000442287.2_Missense_Mutation_p.R546H	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	546			R -> C (in dbSNP:rs2307447). {ECO:0000269|Ref.4}.		aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)	p.R546H(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CAAGCAGGCGCGGGCCATGAC	0.622								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)												1	Substitution - Missense(1)	kidney(1)											59.0	60.0	60.0					15																	89869918		2200	4299	6499	SO:0001583	missense	5428			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1637G>A	15.37:g.89869918C>T	ENSP00000268124:p.Arg546His		Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	3.371	-0.128453	0.06753	.	.	ENSG00000140521	ENST00000268124;ENST00000442287;ENST00000526314	D;D;D	0.93811	-3.14;-3.14;-3.29	5.21	1.15	0.20763	.	0.422878	0.27379	N	0.019630	T	0.82254	0.4997	N	0.14661	0.345	0.20926	N	0.999823	B	0.11235	0.004	B	0.04013	0.001	T	0.67059	-0.5766	10	0.21014	T	0.42	-5.1728	4.6771	0.12717	0.142:0.4802:0.0:0.3778	.	546	P54098	DPOG1_HUMAN	H	546;546;2	ENSP00000268124:R546H;ENSP00000399851:R546H;ENSP00000432389:R2H	ENSP00000268124:R546H	R	-	2	0	POLG	87670922	0.000000	0.05858	0.159000	0.22649	0.009000	0.06853	-0.221000	0.09202	0.064000	0.16427	-0.258000	0.10820	CGC		0.622	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2		NM_002693	
POLR1E	64425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	37500907	37500907	+	Silent	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr9:37500907C>T	ENST00000377798.4	+	10	1070	c.957C>T	c.(955-957)taC>taT	p.Y319Y	POLR1E_ENST00000442009.2_Silent_p.Y249Y|POLR1E_ENST00000377792.3_Silent_p.Y381Y	NM_022490.1	NP_071935.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.Y319Y(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		GCTTGACCTACAACAATGGCA	0.493																																					Ovarian(116;843 1620 18506 32459 34463)												1	Substitution - coding silent(1)	kidney(1)											111.0	95.0	101.0					9																	37500907		2203	4300	6503	SO:0001819	synonymous_variant	64425			AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"""RNA polymerase subunits"""	17631	protein-coding gene	gene with protein product	"""RNA polymerase I associated factor 53"""		"""polymerase (RNA) I associated factor 1"""	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377798.4:c.957C>T	9.37:g.37500907C>T			O75395|Q5JTE3	Silent	SNP	ENST00000377798.4	37	CCDS6611.1																																																																																				0.493	POLR1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052464.1		NM_022490	
PPAP2B	8613	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	57044640	57044640	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:57044640C>G	ENST00000371250.3	-	1	601	c.50G>C	c.(49-51)gGc>gCc	p.G17A		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	17					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)	p.G17A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CGGGCTGCCGCCGTTCTTGCT	0.652																																																	1	Substitution - Missense(1)	kidney(1)											48.0	57.0	54.0					1																	57044640		2203	4300	6503	SO:0001583	missense	8613			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.50G>C	1.37:g.57044640C>G	ENSP00000360296:p.Gly17Ala		B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	ENST00000371250.3	37	CCDS604.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502220	0.64298	.	.	ENSG00000162407	ENST00000371250	T	0.29917	1.55	4.73	4.73	0.59995	.	0.533295	0.19597	N	0.110482	T	0.50463	0.1617	M	0.63843	1.955	0.58432	D	0.999997	D	0.71674	0.998	D	0.63877	0.919	T	0.36261	-0.9755	10	0.30854	T	0.27	.	17.2302	0.86982	0.0:1.0:0.0:0.0	.	17	O14495	LPP3_HUMAN	A	17	ENSP00000360296:G17A	ENSP00000360296:G17A	G	-	2	0	PPAP2B	56817228	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	5.625000	0.67770	2.598000	0.87819	0.655000	0.94253	GGC		0.652	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2		NM_003713	
TRIM37	4591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	57057344	57057344	+	IGR	SNP	A	A	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr17:57057344A>C	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Missense_Mutation_p.E407A	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E407A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GGAGATGCTGAACATAAGCCA	0.478									Mulibrey Nanism																																								1	Substitution - Missense(1)	kidney(1)											98.0	72.0	81.0					17																	57057344		2203	4300	6503	SO:0001628	intergenic_variant	22843	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972			17.37:g.57057344A>C			Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000393066.3	37	CCDS45746.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.644249	0.67244	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.18502	2.21	5.52	5.52	0.82312	.	0.092317	0.64402	D	0.000001	T	0.26593	0.0650	L	0.35644	1.08	0.80722	D	1	P;P	0.45768	0.866;0.856	P;P	0.55222	0.675;0.771	T	0.01099	-1.1452	10	0.29301	T	0.29	-12.2633	15.6493	0.77078	1.0:0.0:0.0:0.0	.	416;407	Q8WY54-3;Q8WY54-2	.;.	A	407;258	ENSP00000312411:E407A	ENSP00000312411:E407A	E	+	2	0	PPM1E	54412126	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.109000	0.64355	0.402000	0.26972	GAA		0.478	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445928.1		NM_015294	
PSMA3	5684	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	58714515	58714515	+	Silent	SNP	A	A	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr14:58714515A>G	ENST00000216455.4	+	2	159	c.69A>G	c.(67-69)caA>caG	p.Q23Q	PSMA3_ENST00000557508.1_Intron|PSMA3_ENST00000412908.2_Silent_p.Q23Q	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	23					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 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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)	p.Q23Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						GAGTTTTTCAAGTTGAATATG	0.368																																																	1	Substitution - coding silent(1)	kidney(1)											110.0	106.0	107.0					14																	58714515		2203	4300	6503	SO:0001819	synonymous_variant	5684				CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"""Proteasome (prosome, macropain) subunits"""	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.69A>G	14.37:g.58714515A>G			B2RCK6|Q86U83|Q8N1D8|Q9BS70	Silent	SNP	ENST00000216455.4	37	CCDS9731.1																																																																																				0.368	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276923.1		NM_002788	
RANBP2	5903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	109357073	109357073	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:109357073G>A	ENST00000283195.6	+	7	1037	c.911G>A	c.(910-912)aGt>aAt	p.S304N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	304					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S304N(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGTCAGCATAGTAGTAATGTT	0.413																																																	2	Substitution - Missense(2)	kidney(2)											238.0	246.0	243.0					2																	109357073		2052	3903	5955	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.911G>A	2.37:g.109357073G>A	ENSP00000283195:p.Ser304Asn		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	7.916	0.737543	0.15574	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.32988	1.43	.	.	.	.	.	.	.	.	T	0.12092	0.0294	N	0.08118	0	0.20196	N	0.999928	.	.	.	.	.	.	T	0.34329	-0.9833	5	0.13470	T	0.59	.	.	.	.	.	304	P49792	RBP2_HUMAN	N	304	ENSP00000283195:S304N	ENSP00000283195:S304N	S	+	2	0	RANBP2	108723505	0.117000	0.22190	0.847000	0.33407	0.978000	0.69477	0.089000	0.15002	0.064000	0.16427	0.064000	0.15345	AGT		0.413	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1		NM_006267	
RASSF3	283349	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	65085342	65085342	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr12:65085342G>C	ENST00000542104.1	+	4	670	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q	RASSF3_ENST00000336061.2_Missense_Mutation_p.E184Q	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	184	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.E184Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		TGTTCTTCGTGAACATGAAAT	0.448																																																	1	Substitution - Missense(1)	kidney(1)											138.0	114.0	122.0					12																	65085342		2203	4300	6503	SO:0001583	missense	283349				CCDS8969.1	12q14.2	2008-02-22	2008-02-22		ENSG00000153179	ENSG00000153179			14271	protein-coding gene	gene with protein product		607019					Standard	NM_178169		Approved		uc001ssd.3	Q86WH2	OTTHUMG00000168812	ENST00000542104.1:c.550G>C	12.37:g.65085342G>C	ENSP00000443021:p.Glu184Gln		Q86WH1	Missense_Mutation	SNP	ENST00000542104.1	37	CCDS8969.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612904	0.87258	.	.	ENSG00000153179	ENST00000542104;ENST00000336061;ENST00000541539	T;T	0.19105	2.17;2.17	4.85	4.85	0.62838	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	M	0.87547	2.89	0.80722	D	1	P	0.38300	0.626	B	0.41619	0.361	T	0.42799	-0.9430	9	.	.	.	-17.3261	18.3842	0.90461	0.0:0.0:1.0:0.0	.	184	Q86WH2	RASF3_HUMAN	Q	184;184;114	ENSP00000443021:E184Q;ENSP00000336616:E184Q	.	E	+	1	0	RASSF3	63371609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.883000	0.92426	2.415000	0.81967	0.561000	0.74099	GAA		0.448	RASSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401161.1			
REG3G	130120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	79255386	79255386	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:79255386G>T	ENST00000272324.5	+	6	696	c.512G>T	c.(511-513)tGc>tTc	p.C171F	REG3G_ENST00000409471.1_Missense_Mutation_p.C125F|REG3G_ENST00000393897.2_Missense_Mutation_p.C171F	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	171	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.C171F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCTATGTCTGCAAGTTCAAG	0.493																																																	1	Substitution - Missense(1)	kidney(1)											94.0	87.0	90.0					2																	79255386		2203	4300	6503	SO:0001583	missense	130120			AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.512G>T	2.37:g.79255386G>T	ENSP00000272324:p.Cys171Phe		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569329	0.65765	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	D;D;D	0.97688	-2.74;-2.74;-4.49	4.66	4.66	0.58398	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000020	D	0.99177	0.9715	H	0.98048	4.135	0.46167	D	0.9989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98602	1.0659	10	0.87932	D	0	.	13.2737	0.60177	0.0:0.0:1.0:0.0	.	125;171	Q3SYE6;Q6UW15	.;REG3G_HUMAN	F	171;171;125	ENSP00000377475:C171F;ENSP00000272324:C171F;ENSP00000387105:C125F	ENSP00000272324:C171F	C	+	2	0	REG3G	79108894	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.984000	0.56923	2.585000	0.87301	0.650000	0.86243	TGC		0.493	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1		NM_198448	
ROBO2	6092	broad.mit.edu	37	3	77147239	77147239	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:77147239G>A	ENST00000461745.1	+	2	1036	c.136G>A	c.(136-138)Gag>Aag	p.E46K	ROBO2_ENST00000487694.3_Missense_Mutation_p.E62K|ROBO2_ENST00000332191.8_Missense_Mutation_p.E46K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	46	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.E46K(1)|p.E62K(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTCTAAGGGCGAGCCCACGAC	0.577																																																	2	Substitution - Missense(2)	kidney(2)											48.0	53.0	51.0					3																	77147239		1966	4157	6123	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.136G>A	3.37:g.77147239G>A	ENSP00000417164:p.Glu46Lys		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877863	0.91664	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.42513	0.97;0.97;0.97	4.96	4.96	0.65561	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38778	U	0.001567	T	0.37892	0.1020	L	0.33245	0.995	0.38510	D	0.948446	D;P;P	0.54397	0.966;0.925;0.87	B;B;B	0.42882	0.401;0.279;0.401	T	0.53927	-0.8369	9	0.66056	D	0.02	.	18.2024	0.89843	0.0:0.0:1.0:0.0	.	62;46;46	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	K	62;62;62;46;46	ENSP00000417335:E62K;ENSP00000417164:E46K;ENSP00000327536:E46K	ENSP00000327536:E46K	E	+	1	0	ROBO2	77229929	1.000000	0.71417	0.996000	0.52242	0.414000	0.31173	9.864000	0.99589	2.283000	0.76528	0.655000	0.94253	GAG		0.577	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2		XM_031246	
SDK1	221935	broad.mit.edu;ucsc.edu	37	7	4198097	4198097	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr7:4198097C>A	ENST00000404826.2	+	31	4782	c.4643C>A	c.(4642-4644)tCc>tAc	p.S1548Y	SDK1_ENST00000389531.3_Missense_Mutation_p.S1548Y	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1548	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S1548Y(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCTTCACCTCCTACAAGCTG	0.612																																																	1	Substitution - Missense(1)	kidney(1)											97.0	83.0	88.0					7																	4198097		2203	4300	6503	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4643C>A	7.37:g.4198097C>A	ENSP00000385899:p.Ser1548Tyr		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012880	0.75161	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.58210	0.35;0.35	5.02	5.02	0.67125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.69753	0.3146	M	0.73319	2.225	0.80722	D	1	D;D;D	0.89917	1.0;0.992;0.999	D;D;D	0.79784	0.993;0.928;0.987	T	0.65356	-0.6188	10	0.13108	T	0.6	.	18.3471	0.90326	0.0:1.0:0.0:0.0	.	1548;35;1548	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	Y	1548	ENSP00000385899:S1548Y;ENSP00000374182:S1548Y	ENSP00000374182:S1548Y	S	+	2	0	SDK1	4164623	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.720000	0.84759	2.339000	0.79563	0.563000	0.77884	TCC		0.612	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1		NM_152744	
SENP7	57337	hgsc.bcm.edu;ucsc.edu	37	3	101090968	101090968	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:101090968delC	ENST00000394095.2	-	7	733	c.680delG	c.(679-681)ggcfs	p.G227fs	SENP7_ENST00000394091.1_Frame_Shift_Del_p.G63fs|SENP7_ENST00000358203.3_Frame_Shift_Del_p.G63fs|SENP7_ENST00000314261.7_Frame_Shift_Del_p.G161fs|SENP7_ENST00000394094.2_Frame_Shift_Del_p.G162fs|SENP7_ENST00000348610.3_Frame_Shift_Del_p.G194fs	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	227						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCGTTGTGAGCCCCTGCAAAA	0.348																																																	0													109.0	105.0	106.0					3																	101090968		2203	4300	6503	SO:0001589	frameshift_variant	57337				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.680delG	3.37:g.101090968delC	ENSP00000377655:p.Gly227fs		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Frame_Shift_Del	DEL	ENST00000394095.2	37	CCDS2941.2																																																																																				0.348	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2		NM_020654	
SLC17A7	57030	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49934326	49934326	+	Silent	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr19:49934326G>A	ENST00000221485.3	-	11	1506	c.1335C>T	c.(1333-1335)ggC>ggT	p.G445G	SLC17A7_ENST00000600601.1_Silent_p.G378G|SLC17A7_ENST00000543531.1_Silent_p.G433G	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	445					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)	p.G445G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CCGACAGTGTGCCCACGCCGT	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											88.0	71.0	77.0					19																	49934326		2203	4300	6503	SO:0001819	synonymous_variant	57030			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1335C>T	19.37:g.49934326G>A			B4DFR9|B4DG46|Q6PCD0	Silent	SNP	ENST00000221485.3	37	CCDS12764.1																																																																																				0.617	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			
SLC44A1	23446	hgsc.bcm.edu;ucsc.edu	37	9	108127774	108127774	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr9:108127774delA	ENST00000374720.3	+	11	1511	c.1264delA	c.(1264-1266)aatfs	p.N422fs	SLC44A1_ENST00000374723.1_Frame_Shift_Del_p.N422fs|SLC44A1_ENST00000374724.1_Frame_Shift_Del_p.N422fs|SLC44A1_ENST00000343170.7_Frame_Shift_Del_p.N214fs	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	422					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GGATAAAAGGAATTTGCCATT	0.358																																																	0													80.0	80.0	80.0					9																	108127774		2203	4300	6503	SO:0001589	frameshift_variant	23446			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1264delA	9.37:g.108127774delA	ENSP00000363852:p.Asn422fs		A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Frame_Shift_Del	DEL	ENST00000374720.3	37	CCDS6763.1																																																																																				0.358	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1		NM_080546	
SMEK2	57223	hgsc.bcm.edu;ucsc.edu	37	2	55813839	55813840	+	Frame_Shift_Ins	INS	-	-	A	rs35266904		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:55813839_55813840insA	ENST00000345102.5	-	6	1331_1332	c.1030_1031insT	c.(1030-1032)tctfs	p.S344fs	SMEK2_ENST00000272313.5_Frame_Shift_Ins_p.S344fs|SMEK2_ENST00000407823.3_Frame_Shift_Ins_p.S344fs	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	344					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.S344Y(1)		kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAATGTCTGAGAAAATGCACAA	0.332																																																	1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1031dupT	2.37:g.55813843_55813843dupA	ENSP00000339769:p.Ser344fs		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Frame_Shift_Ins	INS	ENST00000345102.5	37	CCDS46289.1																																																																																				0.332	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1		NM_020463	
SNAI2	6591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	49832751	49832751	+	Missense_Mutation	SNP	T	T	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr8:49832751T>A	ENST00000396822.1	-	3	686	c.329A>T	c.(328-330)gAg>gTg	p.E110V	SNAI2_ENST00000020945.1_Missense_Mutation_p.E110V			O43623	SNAI2_HUMAN	snail family zinc finger 2	110					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.E110V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TAGTCTTTCCTCTTCATCACT	0.488																																																	1	Substitution - Missense(1)	kidney(1)											156.0	150.0	152.0					8																	49832751		2203	4300	6503	SO:0001583	missense	6591			U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.329A>T	8.37:g.49832751T>A	ENSP00000380034:p.Glu110Val		B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	37	CCDS6146.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.694229	0.48202	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.12672	2.66;2.66	5.38	5.38	0.77491	.	0.042935	0.85682	D	0.000000	T	0.08670	0.0215	N	0.24115	0.695	0.80722	D	1	P	0.34462	0.454	B	0.23275	0.045	T	0.31475	-0.9942	10	0.16896	T	0.51	-19.4374	15.3762	0.74607	0.0:0.0:0.0:1.0	.	110	O43623	SNAI2_HUMAN	V	110	ENSP00000020945:E110V;ENSP00000380034:E110V	ENSP00000020945:E110V	E	-	2	0	SNAI2	49995304	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.503000	0.81632	2.034000	0.60081	0.459000	0.35465	GAG		0.488	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2		NM_003068	
SNX18	112574	broad.mit.edu;hgsc.bcm.edu	37	5	53839239	53839239	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr5:53839239C>A	ENST00000381410.4	+	2	2042	c.1852C>A	c.(1852-1854)Ctt>Att	p.L618I	SNX18_ENST00000343017.6_3'UTR	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	471	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.L618I(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GGAAGAAGCTCTTCACAAATA	0.343																																																	1	Substitution - Missense(1)	kidney(1)											53.0	51.0	52.0					5																	53839239		1814	4082	5896	SO:0001583	missense	112574			AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000381410.4:c.1852C>A	5.37:g.53839239C>A	ENSP00000370817:p.Leu618Ile		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000381410.4	37	CCDS43317.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416572	0.83449	.	.	ENSG00000178996	ENST00000381410	T	0.17054	2.3	5.92	5.92	0.95590	.	.	.	.	.	T	0.41305	0.1153	.	.	.	0.80722	D	1	D	0.53151	0.958	P	0.59012	0.85	T	0.13019	-1.0525	8	0.72032	D	0.01	.	18.5075	0.90902	0.0:1.0:0.0:0.0	.	618	Q96RF0-2	.	I	618	ENSP00000370817:L618I	ENSP00000370817:L618I	L	+	1	0	SNX18	53874996	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.743000	0.68655	2.794000	0.96219	0.650000	0.86243	CTT		0.343	SNX18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214073.2			
SORCS3	22986	broad.mit.edu;ucsc.edu	37	10	107016626	107016626	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr10:107016626G>A	ENST00000369701.3	+	25	3614	c.3387G>A	c.(3385-3387)atG>atA	p.M1129I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1129					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.M1129I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCATGCTTATGCTATTATCAG	0.433																																					NSCLC(116;1497 1690 7108 13108 14106)												1	Substitution - Missense(1)	kidney(1)											174.0	148.0	157.0					10																	107016626		2203	4300	6503	SO:0001583	missense	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3387G>A	10.37:g.107016626G>A	ENSP00000358715:p.Met1129Ile		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834318	0.91036	.	.	ENSG00000156395	ENST00000369701	T	0.14640	2.49	5.93	5.93	0.95920	.	0.040077	0.85682	D	0.000000	T	0.13884	0.0336	L	0.32530	0.975	0.80722	D	1	P	0.47841	0.901	B	0.40066	0.318	T	0.02484	-1.1152	9	.	.	.	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	1129	Q9UPU3	SORC3_HUMAN	I	1129	ENSP00000358715:M1129I	.	M	+	3	0	SORCS3	107006616	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.359000	0.97115	2.826000	0.97356	0.655000	0.94253	ATG		0.433	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1		NM_014978	
TRIM51	84767	broad.mit.edu	37	11	55653105	55653105	+	Missense_Mutation	SNP	C	C	A	rs540493221		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:55653105C>A	ENST00000449290.2	+	2	293	c.201C>A	c.(199-201)gaC>gaA	p.D67E	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	67						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.D67E(1)									TCAACACTGACATTTGTTTGA	0.488																																																	1	Substitution - Missense(1)	kidney(1)											35.0	30.0	31.0					11																	55653105		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.201C>A	11.37:g.55653105C>A	ENSP00000395086:p.Asp67Glu		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37		.	.	.	.	.	.	.	.	.	.	.	7.296	0.612045	0.14066	.	.	ENSG00000124900	ENST00000449290	D	0.84370	-1.84	0.803	-0.478	0.12093	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.67211	0.2869	N	0.08118	0	0.09310	N	0.999999	B	0.18968	0.032	B	0.19946	0.027	T	0.57015	-0.7883	9	0.87932	D	0	.	3.8204	0.08833	0.0:0.4305:0.0:0.5695	.	67	Q9BSJ1	SPRY5_HUMAN	E	67	ENSP00000395086:D67E	ENSP00000395086:D67E	D	+	3	2	SPRYD5	55409681	0.112000	0.22096	0.001000	0.08648	0.010000	0.07245	0.448000	0.21726	-0.107000	0.12088	0.152000	0.16155	GAC		0.488	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1		NM_032681	
TRIM51	84767	broad.mit.edu;hgsc.bcm.edu	37	11	55658689	55658689	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:55658689G>T	ENST00000449290.2	+	7	1032	c.940G>T	c.(940-942)Gac>Tac	p.D314Y	TRIM51_ENST00000244891.3_Missense_Mutation_p.D171Y	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	314	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.D314Y(1)|p.D155Y(1)									TGTTGGATGTGACCCTCAAGA	0.388																																																	2	Substitution - Missense(2)	kidney(2)											93.0	101.0	98.0					11																	55658689		2067	3944	6011	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.940G>T	11.37:g.55658689G>T	ENSP00000395086:p.Asp314Tyr		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37		.	.	.	.	.	.	.	.	.	.	.	9.026	0.985972	0.18889	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.09445	2.98;2.98	1.17	-0.818	0.10833	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.12433	0.0302	L	0.53249	1.67	0.21652	N	0.999608	P	0.41265	0.744	P	0.45449	0.481	T	0.23940	-1.0174	9	0.51188	T	0.08	.	4.2288	0.10592	0.0:0.4429:0.5571:0.0	.	314	Q9BSJ1	SPRY5_HUMAN	Y	314;171	ENSP00000395086:D314Y;ENSP00000244891:D171Y	ENSP00000244891:D171Y	D	+	1	0	SPRYD5	55415265	0.016000	0.18221	0.147000	0.22382	0.373000	0.29922	0.227000	0.17795	0.500000	0.27991	0.162000	0.16502	GAC		0.388	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1		NM_032681	
SULF2	55959	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	46365503	46365503	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr20:46365503G>T	ENST00000359930.4	-	3	1210	c.359C>A	c.(358-360)gCa>gAa	p.A120E	SULF2_ENST00000467815.1_Missense_Mutation_p.A120E|SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000361612.4_Missense_Mutation_p.A120E|SULF2_ENST00000484875.1_Missense_Mutation_p.A120E	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	120					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.A120E(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CTCGTGCTGTGCCTGCCAGGA	0.607																																																	1	Substitution - Missense(1)	kidney(1)											210.0	149.0	170.0					20																	46365503		2203	4300	6503	SO:0001583	missense	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.359C>A	20.37:g.46365503G>T	ENSP00000353007:p.Ala120Glu		E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355922	0.82243	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815;ENST00000437955	D;D;D;D;D	0.98512	-4.01;-4.01;-4.01;-4.01;-4.97	5.34	5.34	0.76211	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.209202	0.48767	D	0.000172	D	0.97911	0.9313	L	0.35542	1.07	0.80722	D	1	P;D;D	0.63880	0.476;0.992;0.993	B;P;D	0.62955	0.204;0.853;0.909	D	0.98310	1.0523	10	0.41790	T	0.15	-13.6892	19.0439	0.93012	0.0:0.0:1.0:0.0	.	120;120;120	G3XAE6;Q8IWU5-2;Q8IWU5	.;.;SULF2_HUMAN	E	120	ENSP00000353007:A120E;ENSP00000418290:A120E;ENSP00000354662:A120E;ENSP00000418442:A120E;ENSP00000410026:A120E	ENSP00000353007:A120E	A	-	2	0	SULF2	45798910	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.944000	0.87722	2.502000	0.84385	0.561000	0.74099	GCA		0.607	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1		NM_018837	
TAB2	23118	hgsc.bcm.edu;ucsc.edu	37	6	149699871	149699872	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr6:149699871_149699872insT	ENST00000367456.1	+	4	1397_1398	c.820_821insT	c.(820-822)aatfs	p.N274fs	TAB2_ENST00000392282.1_Frame_Shift_Ins_p.N274fs|TAB2_ENST00000286332.5_Frame_Shift_Ins_p.N274fs|TAB2_ENST00000538427.1_Frame_Shift_Ins_p.N274fs|TAB2_ENST00000536230.1_Frame_Shift_Ins_p.N242fs			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	274					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						TCAACAGCCAAATCAGCAAGGC	0.48																																																	0																																										SO:0001589	frameshift_variant	23118			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	Exception_encountered	6.37:g.149699871_149699872insT	ENSP00000356426:p.Asn274fs		B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Frame_Shift_Ins	INS	ENST00000367456.1	37	CCDS5214.1																																																																																				0.480	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			
TECTA	7007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	120980198	120980198	+	Silent	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:120980198C>T	ENST00000392793.1	+	4	748	c.477C>T	c.(475-477)agC>agT	p.S159S	TECTA_ENST00000264037.2_Silent_p.S159S			O75443	TECTA_HUMAN	tectorin alpha	159	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.S159S(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGCAGCAGCACCACACCTG	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											90.0	89.0	90.0					11																	120980198		2203	4299	6502	SO:0001819	synonymous_variant	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.477C>T	11.37:g.120980198C>T				Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																				0.428	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1		NM_005422	
THEG	51298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	375847	375847	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr19:375847C>T	ENST00000342640.4	-	1	166	c.124G>A	c.(124-126)Gtc>Atc	p.V42I	THEG_ENST00000346878.2_Missense_Mutation_p.V42I	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	42					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.V42I(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTCTGTGACCCGCCGGCTC	0.677																																																	1	Substitution - Missense(1)	kidney(1)											42.0	47.0	45.0					19																	375847		2203	4299	6502	SO:0001583	missense	51298			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.124G>A	19.37:g.375847C>T	ENSP00000340088:p.Val42Ile		A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	2.746	-0.261181	0.05791	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.18338	2.23;2.22	3.16	-6.33	0.01988	.	.	.	.	.	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.004;0.006	T	0.30504	-0.9976	9	0.27785	T	0.31	-17.7507	2.422	0.04450	0.312:0.2246:0.3585:0.1049	.	42;42	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	I	42	ENSP00000340088:V42I;ENSP00000264820:V42I	ENSP00000340088:V42I	V	-	1	0	THEG	326847	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.212000	0.00555	-2.568000	0.00469	-0.397000	0.06425	GTC		0.677	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			
TP53BP2	7159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	223983955	223983955	+	Silent	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr1:223983955C>T	ENST00000343537.7	-	13	2577	c.2286G>A	c.(2284-2286)agG>agA	p.R762R	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Silent_p.R633R|TP53BP2_ENST00000391879.2_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	756					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)	p.R762R(1)|p.R633R(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTATGGTGGTCCTCTGATATA	0.473																																																	2	Substitution - coding silent(2)	kidney(2)											144.0	148.0	146.0					1																	223983955		2203	4300	6503	SO:0001819	synonymous_variant	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2286G>A	1.37:g.223983955C>T			B4DG66|Q12892|Q86X75|Q96KQ3	Silent	SNP	ENST00000343537.7	37	CCDS44319.1																																																																																				0.473	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3		NM_001031685, NM_005426	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179425394	179425394	+	Missense_Mutation	SNP	C	C	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:179425394C>G	ENST00000591111.1	-	276	80766	c.80542G>C	c.(80542-80544)Gaa>Caa	p.E26848Q	TTN_ENST00000342992.6_Missense_Mutation_p.E25921Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E28489Q|TTN_ENST00000342175.6_Missense_Mutation_p.E19616Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19549Q|TTN_ENST00000460472.2_Missense_Mutation_p.E19424Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26848	Fibronectin type-III 95. {ECO:0000255|PROSITE-ProRule:PRU00316}.			IVE -> HRK (in Ref. 1; CAA62188). {ECO:0000305}.	adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E19616Q(1)|p.E25919Q(1)|p.E25921Q(1)|p.E19549Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACGTTTTTCTACGATGTAA	0.423																																																	4	Substitution - Missense(4)	kidney(4)											57.0	58.0	58.0					2																	179425394		1962	4152	6114	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80542G>C	2.37:g.179425394C>G	ENSP00000465570:p.Glu26848Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.97|13.97	2.396118|2.396118	0.42512|0.42512	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218|ENST00000356127	T;T;T;T|.	0.57436|.	0.4;0.4;0.4;0.4|.	5.97|5.97	5.09|5.09	0.68999|0.68999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.71451|0.71451	0.3341|0.3341	L|L	0.53561|0.53561	1.675|1.675	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.998;0.998;0.998;0.998|.	T|T	0.74797|0.74797	-0.3543|-0.3543	9|6	0.87932|0.87932	D|D	0|0	.|.	16.6367|16.6367	0.85060|0.85060	0.1311:0.8689:0.0:0.0|0.1311:0.8689:0.0:0.0	.|.	19424;19549;19616;26848|.	D3DPF9;E7EQE6;E7ET18;Q8WZ42|.	.;.;.;TITIN_HUMAN|.	Q|T	25921;19424;19616;19549|19421	ENSP00000343764:E25921Q;ENSP00000434586:E19424Q;ENSP00000340554:E19616Q;ENSP00000352154:E19549Q|.	ENSP00000340554:E19616Q|ENSP00000348444:R19421T	E|R	-|-	1|2	0|0	TTN|TTN	179133640|179133640	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	7.818000|7.818000	0.86416|0.86416	1.523000|1.523000	0.49018|0.49018	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179426804	179426804	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:179426804A>T	ENST00000591111.1	-	276	79356	c.79132T>A	c.(79132-79134)Tca>Aca	p.S26378T	TTN_ENST00000342992.6_Missense_Mutation_p.S25451T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S28019T|TTN_ENST00000342175.6_Missense_Mutation_p.S19146T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S19079T|TTN_ENST00000460472.2_Missense_Mutation_p.S18954T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26378	Ig-like 127.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S25451T(1)|p.S25449T(1)|p.S18954T(1)|p.S19079T(1)|p.S19146T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGATAGTGATGTTACAGTC	0.353																																																	5	Substitution - Missense(5)	kidney(5)											44.0	46.0	45.0					2																	179426804		1879	4103	5982	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79132T>A	2.37:g.179426804A>T	ENSP00000465570:p.Ser26378Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	10.96	1.498614	0.26861	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	6.05	2.22	0.28083	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49745	0.1575	N	0.25485	0.75	0.21105	N	0.999789	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.44528	-0.9322	9	0.87932	D	0	.	12.4872	0.55879	0.743:0.0:0.0:0.257	.	18954;19079;19146;26378	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	25451;18954;19146;19079;18952	ENSP00000343764:S25451T;ENSP00000434586:S18954T;ENSP00000340554:S19146T;ENSP00000352154:S19079T	ENSP00000340554:S19146T	S	-	1	0	TTN	179135050	1.000000	0.71417	0.700000	0.30305	0.994000	0.84299	3.154000	0.50693	0.125000	0.18397	0.528000	0.53228	TCA		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
Unknown	0	broad.mit.edu	37	16	16465472	16465472	+	IGR	SNP	T	T	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr16:16465472T>C								AC138969.4 (21025 upstream) : NPIPA7 (7439 downstream)																							GCAGCAACCCTGTGGCCGTGC	0.687																																																	0																																										SO:0001628	intergenic_variant	0																															16.37:g.16465472T>C				Silent	SNP		37																																																																																				0	0.687									
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188224	10188224	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:10188224delG	ENST00000256474.2	+	2	1207	c.367delG	c.(367-369)gggfs	p.G123fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	123	Involved in binding to CCT complex.				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.?(1)|p.G123W(1)|p.R120fs*34(1)|p.L118_G123>P(1)|p.G123fs*8(1)|p.A122fs*7(1)|p.D121fs*35(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)		CAGAGATGCAGGGACACACGA	0.507		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"""	7	Deletion - Frameshift(4)|Substitution - Missense(1)|Unknown(1)|Complex - deletion inframe(1)	kidney(6)|lung(1)											192.0	178.0	183.0					3																	10188224		2203	4300	6503	SO:0001589	frameshift_variant	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.367delG	3.37:g.10188224delG	ENSP00000256474:p.Gly123fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.507	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WDR55	54853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140049085	140049085	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr5:140049085A>C	ENST00000358337.5	+	7	1235	c.998A>C	c.(997-999)gAt>gCt	p.D333A	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	333					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)		p.D333A(1)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTGGTGGATGACTACCGT	0.607																																																	1	Substitution - Missense(1)	kidney(1)											39.0	42.0	41.0					5																	140049085		2203	4300	6503	SO:0001583	missense	54853			AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.998A>C	5.37:g.140049085A>C	ENSP00000351100:p.Asp333Ala		Q9NXK4	Missense_Mutation	SNP	ENST00000358337.5	37	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.857262	0.51376	.	.	ENSG00000120314	ENST00000358337	T	0.29917	1.55	5.29	5.29	0.74685	.	0.532223	0.17532	N	0.170851	T	0.19927	0.0479	L	0.29908	0.895	0.50632	D	0.999885	P	0.35507	0.506	B	0.24155	0.051	T	0.06180	-1.0841	10	0.15952	T	0.53	-10.0272	14.8838	0.70553	1.0:0.0:0.0:0.0	.	333	Q9H6Y2	WDR55_HUMAN	A	333	ENSP00000351100:D333A	ENSP00000351100:D333A	D	+	2	0	WDR55	140029269	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.929000	0.70096	1.987000	0.57996	0.383000	0.25322	GAT		0.607	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3		NM_017706	
XIRP2	129446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	168104885	168104885	+	Missense_Mutation	SNP	C	C	T			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr2:168104885C>T	ENST00000409195.1	+	9	7072	c.6983C>T	c.(6982-6984)tCa>tTa	p.S2328L	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2328L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2106L|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2153					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S2328L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTCTTCCCTCACTGTCCACA	0.438																																																	1	Substitution - Missense(1)	kidney(1)											138.0	136.0	137.0					2																	168104885		1884	4104	5988	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6983C>T	2.37:g.168104885C>T	ENSP00000386840:p.Ser2328Leu		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.037163	0.00406	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02812	4.16;4.16;4.15	5.95	3.94	0.45596	.	0.517876	0.19831	N	0.105086	T	0.03095	0.0091	L	0.45137	1.4	0.09310	N	1	B;B;B	0.11235	0.001;0.002;0.004	B;B;B	0.06405	0.001;0.002;0.002	T	0.42327	-0.9458	10	0.15952	T	0.53	-2.1725	10.3607	0.43991	0.0:0.7946:0.0:0.2054	.	2153;2153;2106	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	2328;2328;2106	ENSP00000386840:S2328L;ENSP00000295237:S2328L;ENSP00000387255:S2106L	ENSP00000295237:S2328L	S	+	2	0	XIRP2	167813131	0.000000	0.05858	0.042000	0.18584	0.126000	0.20510	0.328000	0.19681	1.531000	0.49152	0.655000	0.94253	TCA		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381	
XRN1	54464	broad.mit.edu	37	3	142031463	142031463	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr3:142031463G>A	ENST00000264951.4	-	41	4912	c.4795C>T	c.(4795-4797)Cac>Tac	p.H1599Y	XRN1_ENST00000392981.2_Missense_Mutation_p.H1587Y	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1599					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.H1599Y(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AACTGATTGTGCACACCCCCT	0.393																																																	1	Substitution - Missense(1)	kidney(1)											58.0	60.0	59.0					3																	142031463		2203	4300	6503	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.4795C>T	3.37:g.142031463G>A	ENSP00000264951:p.His1599Tyr		Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381468	0.82792	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.39787	1.2;1.06	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.55737	0.1939	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.993	T	0.53718	-0.8399	10	0.41790	T	0.15	-10.7716	19.0155	0.92892	0.0:0.0:1.0:0.0	.	1587;1599	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	Y	1599;1587	ENSP00000264951:H1599Y;ENSP00000376707:H1587Y	ENSP00000264951:H1599Y	H	-	1	0	XRN1	143514153	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	5.048000	0.64238	2.477000	0.83638	0.655000	0.94253	CAC		0.393	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2		NM_019001	
ZFHX3	463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	72991477	72991477	+	Silent	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr16:72991477G>A	ENST00000268489.5	-	2	3240	c.2568C>T	c.(2566-2568)ccC>ccT	p.P856P	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	856					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P856P(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGCCTCGGCGGGTGAGGGCA	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											100.0	95.0	97.0					16																	72991477		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2568C>T	16.37:g.72991477G>A			D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																				0.572	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1		NM_006885	
ZFP14	57677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36831956	36831956	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr19:36831956A>G	ENST00000270001.7	-	5	887	c.772T>C	c.(772-774)Tgt>Cgt	p.C258R		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	258					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.C258R(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CATTCCTTACATTCATAGGGT	0.433																																																	1	Substitution - Missense(1)	kidney(1)											81.0	85.0	84.0					19																	36831956		2203	4300	6503	SO:0001583	missense	57677			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.772T>C	19.37:g.36831956A>G	ENSP00000270001:p.Cys258Arg		A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	a	17.16	3.317377	0.60524	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	D	0.85258	-1.96	4.07	4.07	0.47477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000146	D	0.94883	0.8346	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96041	0.9024	10	0.87932	D	0	.	12.4234	0.55532	1.0:0.0:0.0:0.0	.	258;258	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	R	258	ENSP00000270001:C258R	ENSP00000270001:C258R	C	-	1	0	ZFP14	41523796	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.764000	0.91719	1.831000	0.53308	0.448000	0.29417	TGT		0.433	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1		NM_020917	
ZFYVE27	118813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99509236	99509236	+	Missense_Mutation	SNP	A	A	G	rs575306476		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr10:99509236A>G	ENST00000393677.4	+	6	761	c.557A>G	c.(556-558)tAt>tGt	p.Y186C	ZFYVE27_ENST00000357540.4_Missense_Mutation_p.Y100C|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.Y68C|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.Y88C|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.Y186C|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.Y186C|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.Y186C|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.Y154C	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	186					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)	p.Y186C(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TCCAGGTTCTATGGGGCTCTT	0.522													A|||	1	0.000199681	0.0	0.0	5008	,	,		19863	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											132.0	109.0	117.0					10																	99509236		2203	4300	6503	SO:0001583	missense	118813			BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.557A>G	10.37:g.99509236A>G	ENSP00000377282:p.Tyr186Cys		B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	37	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833545	0.71258	.	.	ENSG00000155256	ENST00000337540;ENST00000357540;ENST00000370613;ENST00000370610;ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257;ENST00000423811	T;T;T;T;T;T;T	0.59364	0.28;0.27;1.04;1.0;1.03;1.03;1.06	5.79	5.79	0.91817	.	0.054757	0.85682	D	0.000000	T	0.67107	0.2858	L	0.32530	0.975	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.85130	0.99;0.987;0.969;0.994;0.994;0.997;0.986	T	0.70447	-0.4869	10	0.87932	D	0	-14.5126	14.7033	0.69171	1.0:0.0:0.0:0.0	.	154;88;68;100;186;186;186	B7Z404;B7Z3S0;B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;.;.;ZFY27_HUMAN	C	154;100;68;88;186;186;186;186;164	ENSP00000337993:Y154C;ENSP00000359642:Y88C;ENSP00000377282:Y186C;ENSP00000401580:Y186C;ENSP00000353069:Y186C;ENSP00000348593:Y186C;ENSP00000409594:Y164C	ENSP00000337993:Y154C	Y	+	2	0	ZFYVE27	99499226	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	6.348000	0.73009	2.223000	0.72356	0.454000	0.30748	TAT		0.522	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2		NM_144588	
ZNF131	7690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	43161423	43161423	+	Silent	SNP	A	A	G			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr5:43161423A>G	ENST00000399534.1	+	5	488	c.444A>G	c.(442-444)gcA>gcG	p.A148A	ZNF131_ENST00000306938.4_Silent_p.A148A|ZNF131_ENST00000509634.1_Silent_p.A148A|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Silent_p.A148A|ZNF131_ENST00000505606.2_Silent_p.A148A			P52739	ZN131_HUMAN	zinc finger protein 131	148				AETS -> CSKA (in Ref. 5; AAC50251). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A148A(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GGAAGATTGCAGAAACTTCAA	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											107.0	98.0	101.0					5																	43161423		1858	4107	5965	SO:0001819	synonymous_variant	7690			U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.444A>G	5.37:g.43161423A>G			B4DRL3|Q6PIF0	Silent	SNP	ENST00000399534.1	37																																																																																					0.388	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1		NM_003432	
ZNF202	7753	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	123598248	123598248	+	Nonsense_Mutation	SNP	C	C	T	rs373316200		TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr11:123598248C>T	ENST00000529691.1	-	6	1107	c.888G>A	c.(886-888)tgG>tgA	p.W296*	ZNF202_ENST00000336139.4_Nonsense_Mutation_p.W296*|ZNF202_ENST00000530393.1_Nonsense_Mutation_p.W296*			O95125	ZN202_HUMAN	zinc finger protein 202	296	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W296*(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TATCTGGGACCCAAGGCTCTT	0.483																																																	1	Substitution - Nonsense(1)	kidney(1)											103.0	99.0	101.0					11																	123598248		2202	4299	6501	SO:0001587	stop_gained	7753			AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.888G>A	11.37:g.123598248C>T	ENSP00000433881:p.Trp296*		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Nonsense_Mutation	SNP	ENST00000529691.1	37	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	C	38	6.645247	0.97730	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	.	.	.	4.86	3.95	0.45737	.	0.523086	0.16245	N	0.222995	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.3015	10.6676	0.45739	0.0:0.9068:0.0:0.0932	.	.	.	.	X	296	.	ENSP00000337724:W296X	W	-	3	0	ZNF202	123103458	0.844000	0.29557	0.983000	0.44433	0.999000	0.98932	3.142000	0.50601	1.264000	0.44198	0.650000	0.86243	TGG		0.483	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1		NM_003455	
ZNF710	374655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	90616318	90616318	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr15:90616318A>C	ENST00000268154.4	+	3	1725	c.1474A>C	c.(1474-1476)Aag>Cag	p.K492Q	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K492Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GAAGGAGTTCAAGTGCGAGGT	0.632																																																	1	Substitution - Missense(1)	kidney(1)											71.0	61.0	65.0					15																	90616318		2200	4298	6498	SO:0001583	missense	374655			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1474A>C	15.37:g.90616318A>C	ENSP00000268154:p.Lys492Gln		A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	ENST00000268154.4	37	CCDS10358.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.328091	0.81690	.	.	ENSG00000140548	ENST00000268154	T	0.08370	3.1	5.01	5.01	0.66863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.687230	0.12947	N	0.426125	T	0.23014	0.0556	L	0.46819	1.47	0.51012	D	0.999903	D	0.89917	1.0	D	0.91635	0.999	T	0.00290	-1.1843	10	0.62326	D	0.03	-43.8392	12.7283	0.57183	1.0:0.0:0.0:0.0	.	492	Q8N1W2	ZN710_HUMAN	Q	492	ENSP00000268154:K492Q	ENSP00000268154:K492Q	K	+	1	0	ZNF710	88417322	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.139000	0.94554	2.102000	0.63906	0.454000	0.30748	AAG		0.632	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1		NM_198526	
ZYX	7791	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	143079761	143079761	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-6093-01A-11D-1669-08	TCGA-CW-6093-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9b1beb37-1ed7-43c0-a532-56df7941111f	e75e7a34-73fd-425d-9dcd-db99f862d123	g.chr7:143079761G>A	ENST00000322764.5	+	4	829	c.484G>A	c.(484-486)Gat>Aat	p.D162N	ZYX_ENST00000477373.1_Intron|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000449423.2_Intron|ZYX_ENST00000392910.2_Missense_Mutation_p.D5N	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	162					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D162N(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GACCAAGAATGATCCTTTCAA	0.542																																																	1	Substitution - Missense(1)	kidney(1)											169.0	165.0	167.0					7																	143079761		2203	4300	6503	SO:0001583	missense	7791			X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.484G>A	7.37:g.143079761G>A	ENSP00000324422:p.Asp162Asn		A4D2G6|Q6I9S4	Missense_Mutation	SNP	ENST00000322764.5	37	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414426	0.83449	.	.	ENSG00000159840	ENST00000322764;ENST00000449630;ENST00000457235;ENST00000392910	T;T;T	0.58358	0.6;0.48;0.34	3.56	3.56	0.40772	.	0.384023	0.22666	N	0.057135	T	0.64724	0.2624	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.61826	-0.6983	10	0.18710	T	0.47	.	13.5065	0.61486	0.0:0.0:1.0:0.0	.	162	Q15942	ZYX_HUMAN	N	162;131;162;5	ENSP00000324422:D162N;ENSP00000413467:D131N;ENSP00000376642:D5N	ENSP00000324422:D162N	D	+	1	0	ZYX	142789883	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.410000	0.59774	1.810000	0.52873	0.561000	0.74099	GAT		0.542	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2		NM_003461	
