#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ASIC4	55515	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220402025	220402025	+	Silent	SNP	C	C	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr2:220402025C>A	ENST00000347842.3	+	7	1721	c.1707C>A	c.(1705-1707)atC>atA	p.I569I	ASIC4_ENST00000358078.4_Silent_p.I588I	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	569					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)	p.I588I(1)									TGCTGGAGATCCTCGACTACA	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											36.0	31.0	33.0					2																	220402025		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1707C>A	2.37:g.220402025C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Silent	SNP	ENST00000347842.3	37	CCDS2442.1																																																																																				0.652	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1		NM_018674	
ALDH9A1	223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	165652237	165652237	+	Silent	SNP	G	G	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr1:165652237G>T	ENST00000354775.4	-	3	742	c.438C>A	c.(436-438)ggC>ggA	p.G146G	ALDH9A1_ENST00000538148.1_Silent_p.G52G|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	122					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)	p.G146G(1)|p.G122G(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ATGCAGCCAAGCCCGCATAAT	0.507																																					Ovarian(179;1583 2014 18106 33801 42447)												2	Substitution - coding silent(2)	kidney(2)											96.0	82.0	86.0					1																	165652237		2203	4300	6503	SO:0001819	synonymous_variant	223			U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.438C>A	1.37:g.165652237G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Silent	SNP	ENST00000354775.4	37	CCDS1250.2																																																																																				0.507	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1			
ALG8	79053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	77817939	77817939	+	Silent	SNP	T	T	C			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr11:77817939T>C	ENST00000299626.5	-	10	1163	c.1092A>G	c.(1090-1092)cgA>cgG	p.R364R	ALG8_ENST00000376156.3_Silent_p.R364R|ALG8_ENST00000532552.2_5'UTR	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	364					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)	p.R364R(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GAGTTAGACATCGGAGAAAGC	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											95.0	94.0	94.0					11																	77817939		2200	4292	6492	SO:0001819	synonymous_variant	79053			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.1092A>G	11.37:g.77817939T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6NDW6|O60860	Silent	SNP	ENST00000299626.5	37	CCDS8258.1	.	.	.	.	.	.	.	.	.	.	t	10.13	1.266834	0.23136	.	.	ENSG00000159063	ENST00000530608;ENST00000532306	.	.	.	5.29	-2.09	0.07232	.	.	.	.	.	T	0.39911	0.1096	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32348	-0.9910	4	.	.	.	-4.7945	2.0918	0.03659	0.1231:0.2529:0.3755:0.2484	.	.	.	.	G	66;151	.	.	D	-	2	0	ALG8	77495587	0.509000	0.26163	0.978000	0.43139	0.961000	0.63080	-0.445000	0.06845	-0.009000	0.14296	-0.364000	0.07487	GAT		0.423	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1		NM_024079	
ARHGAP19	84986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99006064	99006064	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr10:99006064A>T	ENST00000358531.4	-	7	986	c.958T>A	c.(958-960)Ttg>Atg	p.L320M	ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.L320M|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.L311M|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.L320M|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.L311M|ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.L291M	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	320					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.L320M(1)|p.L139M(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		AAATAGTGCAATCTCGCACAC	0.428																																																	2	Substitution - Missense(2)	kidney(2)											82.0	78.0	80.0					10																	99006064		2203	4300	6503	SO:0001583	missense	84986			AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.958T>A	10.37:g.99006064A>T	ENSP00000351333:p.Leu320Met	Somatic		WXS	Illumina HiSeq	Phase_I	A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	ENST00000358531.4	37	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	A	18.11	3.551153	0.65311	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.11495	2.99;3.0;3.01;3.01;3.01;2.77	5.66	1.66	0.24008	.	0.101155	0.39759	U	0.001273	T	0.12305	0.0299	N	0.24115	0.695	0.37970	D	0.933242	D;D;D	0.57899	0.981;0.959;0.976	P;P;P	0.57152	0.814;0.625;0.793	T	0.11743	-1.0575	10	0.49607	T	0.09	-2.4796	7.3175	0.26509	0.5457:0.0:0.4543:0.0	.	291;320;311	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	M	320;320;311;320;311;139;291	ENSP00000414774:L320M;ENSP00000324468:L320M;ENSP00000347526:L311M;ENSP00000351333:L320M;ENSP00000360066:L311M;ENSP00000351058:L291M	ENSP00000324468:L320M	L	-	1	2	ARHGAP19	98996054	0.992000	0.36948	0.975000	0.42487	0.916000	0.54674	1.010000	0.29898	0.422000	0.26005	0.528000	0.53228	TTG		0.428	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2		NM_032900	
CAD	790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27465207	27465207	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr2:27465207C>G	ENST00000403525.1	+	39	6089	c.5945C>G	c.(5944-5946)gCt>gGt	p.A1982G	CAD_ENST00000264705.4_Missense_Mutation_p.A2045G			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.A2045G(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGATCAATGCTGGGGATGGG	0.612																																																	1	Substitution - Missense(1)	kidney(1)											33.0	36.0	35.0					2																	27465207		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5945C>G	2.37:g.27465207C>G	ENSP00000384510:p.Ala1982Gly	Somatic		WXS	Illumina HiSeq	Phase_I	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.79|16.79	3.221596|3.221596	0.58560|0.58560	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000264705;ENST00000403525|ENST00000428460	D;D|.	0.99311|.	-5.73;-5.73|.	4.88|4.88	4.88|4.88	0.63580|0.63580	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70745|0.70745	0.3259|0.3259	L|L	0.58969|0.58969	1.84|1.84	0.80722|0.80722	D|D	1|1	B;D|.	0.76494|.	0.181;0.999|.	B;D|.	0.85130|.	0.275;0.997|.	T|T	0.69895|0.69895	-0.5021|-0.5021	10|5	0.10111|.	T|.	0.7|.	-0.233|-0.233	16.5999|16.5999	0.84810|0.84810	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1982;2045|.	F8VPD4;P27708|.	.;PYR1_HUMAN|.	G|V	2045;1982|81	ENSP00000264705:A2045G;ENSP00000384510:A1982G|.	ENSP00000264705:A2045G|.	A|L	+|+	2|1	0|2	CAD|CAD	27318711|27318711	1.000000|1.000000	0.71417|0.71417	0.816000|0.816000	0.32577|0.32577	0.968000|0.968000	0.65278|0.65278	7.207000|7.207000	0.77899|0.77899	2.239000|2.239000	0.73571|0.73571	0.491000|0.491000	0.48974|0.48974	GCT|CTG		0.612	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			
C2orf57	165100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	232457795	232457795	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr2:232457795G>A	ENST00000313965.2	+	1	221	c.133G>A	c.(133-135)Gac>Aac	p.D45N		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	45								p.D45N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CGCATCCACTGACTGGCAGGA	0.562																																																	1	Substitution - Missense(1)	kidney(1)											113.0	111.0	111.0					2																	232457795		2203	4300	6503	SO:0001583	missense	165100			BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.133G>A	2.37:g.232457795G>A	ENSP00000315557:p.Asp45Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	g	15.25	2.778404	0.49786	.	.	ENSG00000177673	ENST00000313965	T	0.20332	2.08	4.15	3.25	0.37280	.	0.254221	0.20696	N	0.087374	T	0.09905	0.0243	N	0.14661	0.345	0.09310	N	1	P	0.42518	0.782	B	0.37144	0.242	T	0.18116	-1.0347	10	0.19147	T	0.46	.	8.2288	0.31587	0.113:0.0:0.887:0.0	.	45	Q53QW1	CB057_HUMAN	N	45	ENSP00000315557:D45N	ENSP00000315557:D45N	D	+	1	0	C2orf57	232166039	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.048000	0.14078	1.068000	0.40764	0.563000	0.77884	GAC		0.562	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1		NM_152614	
CASP8AP2	9994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	90572531	90572532	+	RNA	DNP	TT	TT	GC			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr6:90572531_90572532TT>GC	ENST00000551025.1	+	0	2540_2541									caspase 8 associated protein 2									p.V368V(1)|p.V368G(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GAAAGAAAAGTTGATCAAAAAC	0.322																																					Colon(187;1656 2025 17045 31481 39901)												2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																										9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212	Exception_encountered	6.37:g.90572531_90572532delinsGC		Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation|Silent	SNP	ENST00000551025.1	37																																																																																					0.322	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript			NM_001137667	
CLEC10A	10462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	6981408	6981408	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr17:6981408A>G	ENST00000254868.4	-	3	420	c.92T>C	c.(91-93)cTg>cCg	p.L31P	CLEC10A_ENST00000576617.1_Missense_Mutation_p.L31P|CLEC10A_ENST00000571664.1_Missense_Mutation_p.L31P|CLEC10A_ENST00000416562.2_Missense_Mutation_p.L31P	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	31					endocytosis (GO:0006897)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.L31P(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GAGACGCTGCAGGAGGGACTG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											88.0	92.0	90.0					17																	6981408		2203	4300	6503	SO:0001583	missense	10462			D50532	CCDS11087.1, CCDS45597.1	17p13.2	2014-05-20	2005-02-09	2005-02-11		ENSG00000132514		"""C-type lectin domain containing"", ""CD molecules"""	16916	protein-coding gene	gene with protein product	"""macrophage lectin 2 (calcium dependent)"""	605999	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)"""	CLECSF13, CLECSF14		8598452	Standard	XM_005256411		Approved	HML2, HML, CD301	uc002gej.3	Q8IUN9		ENST00000254868.4:c.92T>C	17.37:g.6981408A>G	ENSP00000254868:p.Leu31Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8J8|Q14538|Q6PIW3	Missense_Mutation	SNP	ENST00000254868.4	37	CCDS11087.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905384	0.52333	.	.	ENSG00000132514	ENST00000254868;ENST00000416562	T;T	0.20463	2.07;2.07	4.43	3.31	0.37934	Hepatic lectin, N-terminal (1);	0.430588	0.17528	N	0.170970	T	0.35595	0.0937	L	0.54323	1.7	0.21499	N	0.999661	D;D;D;B	0.89917	1.0;1.0;1.0;0.343	D;D;D;B	0.97110	0.999;0.999;1.0;0.25	T	0.07578	-1.0765	10	0.33940	T	0.23	.	7.1294	0.25490	0.8002:0.0:0.0:0.1998	.	31;31;31;31	Q8IUN9-3;A8K7G0;Q8IUN9;Q8IUN9-2	.;.;CLC10_HUMAN;.	P	31	ENSP00000254868:L31P;ENSP00000414938:L31P	ENSP00000254868:L31P	L	-	2	0	CLEC10A	6922132	0.004000	0.15560	0.019000	0.16419	0.363000	0.29612	1.152000	0.31663	0.803000	0.34113	0.402000	0.26972	CTG		0.627	CLEC10A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439837.2		NM_006344	
COL6A3	1293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238233432	238233432	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr2:238233432A>T	ENST00000295550.4	-	44	9971	c.9519T>A	c.(9517-9519)agT>agA	p.S3173R	COL6A3_ENST00000346358.4_Missense_Mutation_p.S2973R|COL6A3_ENST00000472056.1_Missense_Mutation_p.S2566R|COL6A3_ENST00000347401.3_Missense_Mutation_p.S2972R|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2967R|COL6A3_ENST00000473258.1_5'UTR|COL6A3_ENST00000353578.4_Missense_Mutation_p.S2967R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3173	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S3173R(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCCCATCACACTGATGACTC	0.552																																																	1	Substitution - Missense(1)	kidney(1)											72.0	69.0	70.0					2																	238233432		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.9519T>A	2.37:g.238233432A>T	ENSP00000295550:p.Ser3173Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	5.814	0.334555	0.11013	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88509	-2.39;-2.38;-2.36;-2.36;-2.36;-2.35	5.12	-5.43	0.02632	.	1.240600	0.06190	N	0.681257	T	0.79851	0.4517	L	0.40543	1.245	0.09310	N	1	B;B;B	0.21905	0.037;0.062;0.037	B;B;B	0.18871	0.01;0.023;0.015	T	0.65438	-0.6168	10	0.72032	D	0.01	.	1.9472	0.03359	0.1741:0.2984:0.3404:0.1871	.	2566;2967;3173	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	R	3173;2972;2967;2566;2967;2973	ENSP00000295550:S3173R;ENSP00000315609:S2972R;ENSP00000315873:S2967R;ENSP00000418285:S2566R;ENSP00000386844:S2967R;ENSP00000295546:S2973R	ENSP00000295550:S3173R	S	-	3	2	COL6A3	237898171	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.977000	0.03782	-0.478000	0.06823	0.482000	0.46254	AGT		0.552	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369	
CTDP1	9150	hgsc.bcm.edu	37	18	77475187	77475188	+	In_Frame_Ins	INS	-	-	GGA	rs35893234|rs3833180|rs376153496	byFrequency	TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr18:77475187_77475188insGGA	ENST00000299543.7	+	8	1874_1875	c.1727_1728insGGA	c.(1726-1731)atggag>atGGAggag	p.582_583insE	CTDP1_ENST00000075430.7_In_Frame_Ins_p.582_583insE	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	582	Poly-Glu.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GACCAGAGCATggaggaggagg	0.609														299	0.0597045	0.0045	0.0951	5008	,	,		17334	0.1736		0.0239	False		,,,				2504	0.0286																0																																										SO:0001652	inframe_insertion	9150			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.1746_1748dupGGA	18.37:g.77475194_77475196dupGGA	ENSP00000299543:p.Glu582_Glu582dup	Somatic		WXS	Illumina HiSeq	Phase_I	A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	In_Frame_Ins	INS	ENST00000299543.7	37	CCDS12017.1																																																																																				0.609	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1		NM_004715	
CTR9	9646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	10789686	10789686	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr11:10789686T>G	ENST00000361367.2	+	15	2364	c.1938T>G	c.(1936-1938)aaT>aaG	p.N646K		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	646					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.N646K(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATGCAAAGAATCTGTATGCTG	0.348																																																	1	Substitution - Missense(1)	kidney(1)											88.0	93.0	91.0					11																	10789686		2201	4294	6495	SO:0001583	missense	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1938T>G	11.37:g.10789686T>G	ENSP00000355013:p.Asn646Lys	Somatic		WXS	Illumina HiSeq	Phase_I	D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670365	0.47677	.	.	ENSG00000198730	ENST00000361367	T	0.75154	-0.91	5.72	1.77	0.24775	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.83505	0.5269	M	0.91818	3.245	0.80722	D	1	P	0.45715	0.865	P	0.52823	0.71	D	0.84456	0.0591	10	0.72032	D	0.01	-21.9635	10.0394	0.42148	0.0:0.3691:0.0:0.6309	.	646	Q6PD62	CTR9_HUMAN	K	646	ENSP00000355013:N646K	ENSP00000355013:N646K	N	+	3	2	CTR9	10746262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.725000	0.25970	0.467000	0.27218	0.482000	0.46254	AAT		0.348	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1		NM_014633	
CUEDC1	404093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	55948719	55948719	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr17:55948719A>G	ENST00000577830.1	-	6	1209	c.796T>C	c.(796-798)Tac>Cac	p.Y266H	CUEDC1_ENST00000578357.1_5'Flank|CUEDC1_ENST00000407144.2_Missense_Mutation_p.Y266H|CUEDC1_ENST00000360238.2_Missense_Mutation_p.Y266H|CUEDC1_ENST00000577840.1_Missense_Mutation_p.Y129H	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	266								p.Y266H(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TGGGATTCGTATTTCAATCGA	0.532																																																	1	Substitution - Missense(1)	kidney(1)											98.0	99.0	98.0					17																	55948719		2203	4300	6503	SO:0001583	missense	404093			AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.796T>C	17.37:g.55948719A>G	ENSP00000462717:p.Tyr266His	Somatic		WXS	Illumina HiSeq	Phase_I	D3DTZ2|Q9NWD0	Missense_Mutation	SNP	ENST00000577830.1	37	CCDS11599.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.323188	0.81580	.	.	ENSG00000180891	ENST00000407144;ENST00000360238	T;T	0.25414	1.8;1.8	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.45377	0.1339	M	0.68952	2.095	0.53005	D	0.999962	D	0.69078	0.997	D	0.65010	0.931	T	0.28744	-1.0034	10	0.23891	T	0.37	-1.1694	14.2474	0.65997	1.0:0.0:0.0:0.0	.	266	Q9NWM3	CUED1_HUMAN	H	266	ENSP00000384712:Y266H;ENSP00000353373:Y266H	ENSP00000353373:Y266H	Y	-	1	0	CUEDC1	53303718	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.963000	0.70372	2.107000	0.64212	0.533000	0.62120	TAC		0.532	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443305.1		NM_017949	
DOCK1	1793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	129160369	129160369	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr10:129160369A>T	ENST00000280333.6	+	33	3371	c.3262A>T	c.(3262-3264)Ata>Tta	p.I1088L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1088					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.I1088L(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GGTGGGCCCAATATTAGAAAT	0.393																																																	1	Substitution - Missense(1)	kidney(1)											50.0	49.0	49.0					10																	129160369		2006	4190	6196	SO:0001583	missense	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3262A>T	10.37:g.129160369A>T	ENSP00000280333:p.Ile1088Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37		.	.	.	.	.	.	.	.	.	.	A	17.59	3.427196	0.62733	.	.	ENSG00000150760	ENST00000280333	T	0.56776	0.44	5.15	5.15	0.70609	.	0.104769	0.64402	D	0.000008	T	0.48960	0.1529	L	0.52573	1.65	0.80722	D	1	B;B;B	0.19445	0.011;0.036;0.01	B;B;B	0.18263	0.011;0.021;0.009	T	0.48210	-0.9055	10	0.54805	T	0.06	.	14.8083	0.69974	1.0:0.0:0.0:0.0	.	1088;1154;1088	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	L	1088	ENSP00000280333:I1088L	ENSP00000280333:I1088L	I	+	1	0	DOCK1	129050359	1.000000	0.71417	0.038000	0.18304	0.991000	0.79684	7.219000	0.78000	2.149000	0.67028	0.528000	0.53228	ATA		0.393	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2		NM_001380	
DSCR3	10311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	38610801	38610801	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr21:38610801A>G	ENST00000309117.6	-	3	548	c.311T>C	c.(310-312)gTt>gCt	p.V104A	AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000398998.1_Missense_Mutation_p.V56A|DSCR3_ENST00000288304.5_Missense_Mutation_p.V62A|DSCR3_ENST00000476950.1_Missense_Mutation_p.V104A|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000539844.1_Intron	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	104						nucleus (GO:0005634)		p.V104A(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						CTCATACAGAACTTTGTTACC	0.443																																																	1	Substitution - Missense(1)	kidney(1)											169.0	156.0	161.0					21																	38610801		2203	4300	6503	SO:0001583	missense	10311			D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.311T>C	21.37:g.38610801A>G	ENSP00000311399:p.Val104Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Missense_Mutation	SNP	ENST00000309117.6	37	CCDS33553.1	.	.	.	.	.	.	.	.	.	.	A	9.437	1.087056	0.20390	.	.	ENSG00000157538	ENST00000309117;ENST00000288304;ENST00000476950;ENST00000398998	T	0.06933	3.24	5.41	3.04	0.35103	.	0.000000	0.85682	D	0.000000	T	0.09992	0.0245	M	0.70275	2.135	0.48696	D	0.999691	B;B	0.14805	0.011;0.011	B;B	0.23018	0.026;0.043	T	0.10847	-1.0612	10	0.08599	T	0.76	-20.5644	10.0957	0.42473	0.8636:0.0:0.1364:0.0	.	104;104	B7Z6B1;O14972	.;DSCR3_HUMAN	A	104;62;104;56	ENSP00000311399:V104A	ENSP00000288304:V62A	V	-	2	0	DSCR3	37532671	0.999000	0.42202	0.175000	0.22980	0.890000	0.51754	4.067000	0.57527	0.443000	0.26582	-0.263000	0.10527	GTT		0.443	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194807.1			
DYNC2H1	79659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	103091360	103091360	+	Silent	SNP	C	C	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr11:103091360C>A	ENST00000375735.2	+	57	9099	c.8955C>A	c.(8953-8955)gtC>gtA	p.V2985V	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.V2985V	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2985	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.V418V(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGCCTTTAGTCAATGAAGCTA	0.308																																																	1	Substitution - coding silent(1)	kidney(1)											91.0	89.0	89.0					11																	103091360		1832	4090	5922	SO:0001819	synonymous_variant	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8955C>A	11.37:g.103091360C>A		Somatic		WXS	Illumina HiSeq	Phase_I	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	CCDS53701.1																																																																																				0.308	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1		XM_370652	
E2F7	144455	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	77444477	77444477	+	Silent	SNP	C	C	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr12:77444477C>T	ENST00000322886.7	-	4	652	c.417G>A	c.(415-417)agG>agA	p.R139R	E2F7_ENST00000416496.2_Silent_p.R139R	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	139					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R139R(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TTCTGCTTGGCCTTTGCTTTT	0.453																																																	2	Substitution - coding silent(2)	kidney(2)											152.0	138.0	143.0					12																	77444477		2203	4300	6503	SO:0001819	synonymous_variant	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.417G>A	12.37:g.77444477C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Silent	SNP	ENST00000322886.7	37	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381888	0.24944	.	.	ENSG00000165891	ENST00000551058	.	.	.	5.84	4.96	0.65561	.	.	.	.	.	T	0.70141	0.3190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69483	-0.5133	4	.	.	.	-22.0213	14.023	0.64568	0.0:0.9279:0.0:0.0721	.	.	.	.	D	17	.	.	G	-	2	0	E2F7	75968608	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.527000	0.35975	1.483000	0.48342	-0.142000	0.14014	GGC		0.453	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1		XM_084871	
ESD	2098	broad.mit.edu;hgsc.bcm.edu	37	13	47345584	47345584	+	Silent	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr13:47345584G>A	ENST00000378720.3	-	10	998	c.816C>T	c.(814-816)caC>caT	p.H272H	ESD_ENST00000378697.1_Silent_p.H243H	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	272					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)	p.H272H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	GATGTCTGATGTGGTCAGTAA	0.338																																																	1	Substitution - coding silent(1)	kidney(1)											168.0	169.0	169.0					13																	47345584		2203	4296	6499	SO:0001819	synonymous_variant	2098			M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"""S-formylglutathione hydrolase"""	133280	"""esterase D/formylglutathione hydrolase"""				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.816C>T	13.37:g.47345584G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Silent	SNP	ENST00000378720.3	37	CCDS9404.1																																																																																				0.338	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1			
FBN2	2201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127637113	127637113	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr5:127637113C>T	ENST00000508053.1	-	53	6981	c.6007G>A	c.(6007-6009)Gaa>Aaa	p.E2003K	FBN2_ENST00000262464.4_Missense_Mutation_p.E2003K			P35556	FBN2_HUMAN	fibrillin 2	2003	EGF-like 33; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E2003K(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCATAACCTTCGTTACATAGA	0.343																																																	2	Substitution - Missense(2)	kidney(2)											130.0	126.0	128.0					5																	127637113		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6007G>A	5.37:g.127637113C>T	ENSP00000424571:p.Glu2003Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	34	5.362784	0.95877	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92348	-3.02;-3.02	5.53	5.53	0.82687	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000004	D	0.91439	0.7298	N	0.25380	0.74	0.80722	D	1	D	0.61080	0.989	P	0.54270	0.747	D	0.90014	0.4123	10	0.33141	T	0.24	.	19.6592	0.95857	0.0:1.0:0.0:0.0	.	2003	P35556	FBN2_HUMAN	K	2003	ENSP00000262464:E2003K;ENSP00000424571:E2003K	ENSP00000262464:E2003K	E	-	1	0	FBN2	127665012	1.000000	0.71417	0.997000	0.53966	0.617000	0.37484	7.587000	0.82613	2.879000	0.98667	0.650000	0.86243	GAA		0.343	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2		NM_001999	
FRY	10129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	32721987	32721987	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr13:32721987C>A	ENST00000380250.3	+	13	1791	c.1295C>A	c.(1294-1296)aCc>aAc	p.T432N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	432						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.T432N(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGACTTATAACCATCATCACA	0.438																																																	1	Substitution - Missense(1)	kidney(1)											145.0	137.0	139.0					13																	32721987		1851	4092	5943	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1295C>A	13.37:g.32721987C>A	ENSP00000369600:p.Thr432Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116460	0.56505	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.21932	1.98	5.68	5.68	0.88126	.	0.053828	0.85682	D	0.000000	T	0.17408	0.0418	N	0.14661	0.345	0.80722	D	1	B	0.18310	0.027	B	0.20384	0.029	T	0.06481	-1.0824	10	0.87932	D	0	.	19.8045	0.96525	0.0:1.0:0.0:0.0	.	432	Q5TBA9	FRY_HUMAN	N	432;360	ENSP00000369600:T432N	ENSP00000267067:T360N	T	+	2	0	FRY	31619987	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.152000	0.50677	2.694000	0.91930	0.585000	0.79938	ACC		0.438	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1		NM_023037	
FSTL4	23105	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	132939626	132939626	+	Silent	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr5:132939626G>A	ENST00000265342.7	-	2	298	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	17						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.L17L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGCCGGCAGGGAGGCTCCG	0.532																																																	1	Substitution - coding silent(1)	kidney(1)											60.0	67.0	65.0					5																	132939626		2203	4300	6503	SO:0001819	synonymous_variant	23105			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.49C>T	5.37:g.132939626G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q8TBU0|Q9UPU1	Silent	SNP	ENST00000265342.7	37	CCDS34238.1																																																																																				0.532	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1		XM_048786	
GALM	130589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	38956797	38956797	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr2:38956797A>T	ENST00000272252.5	+	5	986	c.734A>T	c.(733-735)aAt>aTt	p.N245I	GALM_ENST00000410063.1_Missense_Mutation_p.N97I	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	245					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)	p.N245I(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				TTTGACCACAATTTCTGTCTG	0.448																																																	1	Substitution - Missense(1)	kidney(1)											113.0	117.0	116.0					2																	38956797		2203	4300	6503	SO:0001583	missense	130589				CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"""aldose 1 epimerase"""	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.734A>T	2.37:g.38956797A>T	ENSP00000272252:p.Asn245Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q53RY1|Q8NIA2|V9HWA8	Missense_Mutation	SNP	ENST00000272252.5	37	CCDS1797.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725038	0.89298	.	.	ENSG00000143891	ENST00000272252;ENST00000410063;ENST00000434934	T;T;T	0.44482	0.92;0.98;0.92	5.55	5.55	0.83447	Glycoside hydrolase-type carbohydrate-binding, subgroup (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	T	0.72622	0.3483	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80415	-0.1392	10	0.87932	D	0	-20.1026	15.3478	0.74355	1.0:0.0:0.0:0.0	.	245	Q96C23	GALM_HUMAN	I	245;97;125	ENSP00000272252:N245I;ENSP00000386233:N97I;ENSP00000399473:N125I	ENSP00000272252:N245I	N	+	2	0	GALM	38810301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.583000	0.90794	2.121000	0.65114	0.459000	0.35465	AAT		0.448	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2		NM_138801	
GIT2	9815	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	110421492	110421492	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr12:110421492T>A	ENST00000355312.3	-	5	412	c.413A>T	c.(412-414)cAt>cTt	p.H138L	GIT2_ENST00000320063.9_Missense_Mutation_p.H138L|GIT2_ENST00000553118.1_Missense_Mutation_p.H138L|GIT2_ENST00000354574.4_Missense_Mutation_p.H138L|GIT2_ENST00000343646.5_Missense_Mutation_p.H138L|GIT2_ENST00000338373.5_Missense_Mutation_p.H138L|TCHP_ENST00000550780.1_3'UTR|GIT2_ENST00000551209.1_Missense_Mutation_p.H138L|GIT2_ENST00000361006.5_Missense_Mutation_p.H138L|GIT2_ENST00000360185.4_Missense_Mutation_p.H138L|GIT2_ENST00000547815.1_Missense_Mutation_p.H138L|GIT2_ENST00000356259.4_Missense_Mutation_p.H138L|GIT2_ENST00000457474.2_Missense_Mutation_p.H138L	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	138					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H138L(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CACGCTCGAATGGAGTTGCTG	0.388																																																	2	Substitution - Missense(2)	kidney(2)											77.0	72.0	74.0					12																	110421492		2203	4300	6503	SO:0001583	missense	9815			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.413A>T	12.37:g.110421492T>A	ENSP00000347464:p.His138Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	T	32	5.111358	0.94339	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000542273;ENST00000547815;ENST00000320063;ENST00000551494	T;T;T;T;T;T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.71	5.71	0.89125	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	M	0.72118	2.19	0.80722	D	1	P;B;P;P;B;P;P	0.40534	0.592;0.41;0.526;0.526;0.175;0.598;0.72	B;P;B;B;B;B;P	0.46885	0.349;0.475;0.395;0.395;0.171;0.423;0.53	T	0.67964	-0.5534	10	0.16896	T	0.51	.	15.1665	0.72833	0.0:0.0:0.0:1.0	.	138;138;138;138;138;138;138	B4E2E7;Q6FI58;Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;.;.;GIT2_HUMAN;.	L	138;138;138;138;138;138;138;138;138;138;76;138;138;52	ENSP00000347464:H138L;ENSP00000353312:H138L;ENSP00000346585:H138L;ENSP00000340342:H138L;ENSP00000340938:H138L;ENSP00000348595:H138L;ENSP00000391813:H138L;ENSP00000354282:H138L;ENSP00000447465:H138L;ENSP00000448832:H138L;ENSP00000450348:H138L;ENSP00000323833:H138L	ENSP00000323833:H138L	H	-	2	0	GIT2	108905875	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.027000	0.88791	2.165000	0.68154	0.533000	0.62120	CAT		0.388	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1		NM_057169	
GRIK5	2901	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42563630	42563630	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr19:42563630C>A	ENST00000262895.3	-	5	557	c.558G>T	c.(556-558)gaG>gaT	p.E186D	GRIK5_ENST00000593562.1_Missense_Mutation_p.E186D|GRIK5_ENST00000301218.4_Missense_Mutation_p.E186D	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	186					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.E186D(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CTGACAGCGTCTCCTTGGAGA	0.607																																																	2	Substitution - Missense(2)	kidney(2)											118.0	93.0	101.0					19																	42563630		2203	4300	6503	SO:0001583	missense	2901				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.558G>T	19.37:g.42563630C>A	ENSP00000262895:p.Glu186Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287544	0.40494	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.21734	1.99;1.99	4.62	3.59	0.41128	Extracellular ligand-binding receptor (1);	0.131508	0.49916	D	0.000135	T	0.10551	0.0258	N	0.12182	0.205	0.34597	D	0.716119	B	0.02656	0.0	B	0.04013	0.001	T	0.14699	-1.0463	10	0.28530	T	0.3	.	7.8054	0.29200	0.0:0.7464:0.1634:0.0902	.	186	Q16478	GRIK5_HUMAN	D	186	ENSP00000262895:E186D;ENSP00000301218:E186D	ENSP00000262895:E186D	E	-	3	2	GRIK5	47255470	0.987000	0.35691	1.000000	0.80357	0.996000	0.88848	0.195000	0.17155	1.069000	0.40788	0.549000	0.68633	GAG		0.607	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			
IGF1R	3480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	99192822	99192822	+	Silent	SNP	C	C	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr15:99192822C>T	ENST00000268035.6	+	1	623	c.12C>T	c.(10-12)ggC>ggT	p.G4G	IGF1R_ENST00000558762.1_Silent_p.G4G|RP11-35O15.1_ENST00000560221.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	4					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.G4G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TGAAGTCTGGCTCCGGAGGAG	0.468																																																	1	Substitution - coding silent(1)	kidney(1)											30.0	35.0	33.0					15																	99192822		2195	4297	6492	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.12C>T	15.37:g.99192822C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	CCDS10378.1																																																																																				0.468	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2		NM_000875	
ITCH	83737	broad.mit.edu;ucsc.edu	37	20	33026360	33026360	+	Silent	SNP	A	A	G			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr20:33026360A>G	ENST00000262650.6	+	9	862	c.726A>G	c.(724-726)tcA>tcG	p.S242S	ITCH_ENST00000374864.4_Silent_p.S201S|ITCH_ENST00000535650.1_Silent_p.S91S			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	242					apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)	p.S201S(1)		NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ATTCTCCATCACTCTCAAATG	0.478																																																	1	Substitution - coding silent(1)	kidney(1)											160.0	139.0	146.0					20																	33026360		2203	4300	6503	SO:0001819	synonymous_variant	83737			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.726A>G	20.37:g.33026360A>G		Somatic		WXS	Illumina GAIIx	Phase_I	A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Silent	SNP	ENST00000262650.6	37	CCDS58768.1																																																																																				0.478	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			
ITFG2	55846	hgsc.bcm.edu;ucsc.edu	37	12	2929366	2929366	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr12:2929366delT	ENST00000228799.2	+	5	660	c.521delT	c.(520-522)ctcfs	p.L174fs	ITFG2_ENST00000542548.1_Frame_Shift_Del_p.L62fs|ITFG2_ENST00000419778.2_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	174					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CTGGTGTCCCTCAAGAAATGG	0.607																																																	0													79.0	58.0	65.0					12																	2929366		2203	4300	6503	SO:0001589	frameshift_variant	55846			AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.521delT	12.37:g.2929366delT	ENSP00000228799:p.Leu174fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Frame_Shift_Del	DEL	ENST00000228799.2	37	CCDS8513.1																																																																																				0.607	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1		NM_018463	
KIF25	3834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	168443302	168443302	+	Silent	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr6:168443302G>A	ENST00000443060.2	+	9	1282	c.891G>A	c.(889-891)gcG>gcA	p.A297A	KIF25_ENST00000351261.3_Intron|KIF25_ENST00000354419.2_Silent_p.A297A			Q9UIL4	KIF25_HUMAN	kinesin family member 25	297	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A297A(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCAGCCTTGCGGCCCTGGCAG	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											103.0	99.0	101.0					6																	168443302		2203	4300	6503	SO:0001819	synonymous_variant	3834			AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.891G>A	6.37:g.168443302G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O94775|Q5SZU9	Silent	SNP	ENST00000443060.2	37	CCDS5305.1																																																																																				0.657	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			
KLHL4	56062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	86921522	86921522	+	Silent	SNP	G	G	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chrX:86921522G>T	ENST00000373119.4	+	11	2290	c.2145G>T	c.(2143-2145)gtG>gtT	p.V715V	KLHL4_ENST00000373114.4_Intron	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	715						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V715V(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTGTAGTGGTGAAGCTACCCT	0.343																																																	1	Substitution - coding silent(1)	kidney(1)											158.0	139.0	145.0					X																	86921522		2203	4299	6502	SO:0001819	synonymous_variant	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.2145G>T	X.37:g.86921522G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RTW2|Q9Y3J5	Silent	SNP	ENST00000373119.4	37	CCDS14457.1																																																																																				0.343	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			
KRTAP19-2	337969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	31859596	31859596	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr21:31859596G>T	ENST00000334055.3	-	1	159	c.72C>A	c.(70-72)tgC>tgA	p.C24*		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	24						intermediate filament (GO:0005882)		p.C24*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AACCATATCTGCATCCTTCAT	0.542																																																	1	Substitution - Nonsense(1)	kidney(1)											159.0	154.0	156.0					21																	31859596		2203	4300	6503	SO:0001587	stop_gained	337969			AP001708	CCDS13595.1	21q22.1	2006-03-13			ENSG00000186965	ENSG00000186965		"""Keratin associated proteins"""	18937	protein-coding gene	gene with protein product						12359730	Standard	NM_181608		Approved	KAP19.2	uc011acy.2	Q3LHN2	OTTHUMG00000057772	ENST00000334055.3:c.72C>A	21.37:g.31859596G>T	ENSP00000335660:p.Cys24*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000334055.3	37	CCDS13595.1	.	.	.	.	.	.	.	.	.	.	-	10.54	1.378238	0.24944	.	.	ENSG00000186965	ENST00000334055	.	.	.	3.11	-5.08	0.02929	.	0.738763	0.11547	N	0.553122	.	.	.	.	.	.	0.24421	N	0.994613	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.2556	0.20872	0.5362:0.1354:0.3283:0.0	.	.	.	.	X	24	.	ENSP00000335660:C24X	C	-	3	2	KRTAP19-2	30781467	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.609000	0.02066	-1.428000	0.01989	-0.927000	0.02713	TGC		0.542	KRTAP19-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128224.3			
LARGE	9215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	33780246	33780246	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr22:33780246C>T	ENST00000354992.2	-	9	1508	c.937G>A	c.(937-939)Gag>Aag	p.E313K	LARGE_ENST00000452586.2_Missense_Mutation_p.E112K|LARGE_ENST00000397394.2_Missense_Mutation_p.E313K|LARGE_ENST00000402320.1_Missense_Mutation_p.E313K|LARGE_ENST00000437602.2_Missense_Mutation_p.E313K|LARGE_ENST00000337431.2_Missense_Mutation_p.E313K	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	313					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.E313K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CACATCTGCTCCCATTTCATC	0.488																																					Colon(70;397 1175 4573 19089 45288)												1	Substitution - Missense(1)	kidney(1)											140.0	119.0	126.0					22																	33780246		2203	4300	6503	SO:0001583	missense	9215			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.937G>A	22.37:g.33780246C>T	ENSP00000347088:p.Glu313Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.683073	0.68157	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602;ENST00000421768	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.38241	0.1033	L	0.37697	1.125	0.80722	D	1	B;B;B;B	0.14438	0.01;0.002;0.01;0.003	B;B;B;B	0.25614	0.062;0.004;0.042;0.027	T	0.12319	-1.0552	9	.	.	.	-4.0414	19.4661	0.94943	0.0:1.0:0.0:0.0	.	313;112;313;313	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	K	313;313;313;313;112;313;112	ENSP00000347088:E313K;ENSP00000336636:E313K;ENSP00000380549:E313K;ENSP00000385223:E313K;ENSP00000407917:E112K;ENSP00000388544:E313K;ENSP00000403841:E112K	.	E	-	1	0	LARGE	32110246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.234000	0.78134	2.653000	0.90120	0.563000	0.77884	GAG		0.488	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2		NM_133642	
LILRB4	11006	hgsc.bcm.edu	37	19	55179244	55179244	+	Splice_Site	DEL	G	G	-	rs571881532|rs386810941	byFrequency	TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr19:55179244delG	ENST00000391736.1	+	13	1515	c.1200delG	c.(1198-1200)gag>ga	p.E400fs	LILRB4_ENST00000270452.2_Splice_Site_p.E400fs|LILRB4_ENST00000391733.3_Splice_Site_p.E401fs|LILRB4_ENST00000430952.2_Splice_Site_p.E399fs|LILRB4_ENST00000391734.3_Intron	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	400					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGGACACTGAGGTGAGTCCTT	0.617													?|GG|G|unsure	97	0.019369	0.0461	0.0144	5008	,	,		16664	0.002		0.0169	False		,,,				2504	0.0072																0									,	175,4085		12,151,1967	99.0	93.0	95.0		,	1.0	0.0	19		95	101,8151		5,91,4030	no	frameshift-near-splice,frameshift-near-splice	LILRB4	NM_006847.3,NM_001081438.1	,	17,242,5997	A1A1,A1R,RR		1.2239,4.108,2.2059	,	,	55179244	276,12236	2193	4296	6489	SO:0001630	splice_region_variant	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1200+1G>-	19.37:g.55179244delG		Somatic		WXS	Illumina HiSeq	Phase_I	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Frame_Shift_Del	DEL	ENST00000391736.1	37	CCDS12902.1																																																																																				0.617	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			Frame_Shift_Del
LRIG3	121227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	59276667	59276667	+	Silent	SNP	T	T	C			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr12:59276667T>C	ENST00000320743.3	-	12	1750	c.1464A>G	c.(1462-1464)ccA>ccG	p.P488P	LRIG3_ENST00000379141.4_Silent_p.P428P	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	488	LRRCT.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P488P(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CAAAGCCATCTGGGCTAACAG	0.413			T	ROS1	NSCLC																																			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	1	Substitution - coding silent(1)	kidney(1)											90.0	84.0	86.0					12																	59276667		2203	4300	6503	SO:0001819	synonymous_variant	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1464A>G	12.37:g.59276667T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	CCDS8960.1																																																																																				0.413	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1		NM_153377	
MAP3K14-AS1	100133991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	43347888	43347888	+	RNA	SNP	A	A	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr17:43347888A>T	ENST00000585780.1	+	0	4950				MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA					MAP3K14 antisense RNA 1									p.C622S(1)									AGAGGGGCGCAGGAGGGTGGG	0.642																																																	1	Substitution - Missense(1)	kidney(1)											31.0	37.0	35.0					17																	43347888		1987	4163	6150			9020			AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"""Long non-coding RNAs"""	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43347888A>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000585780.1	37		.	.	.	.	.	.	.	.	.	.	A	20.3	3.975252	0.74360	.	.	ENSG00000006062	ENST00000344686	.	.	.	5.46	5.46	0.80206	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	L	0.31371	0.925	0.49483	D	0.999799	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.73665	-0.3911	8	0.66056	D	0.02	.	14.7178	0.69284	1.0:0.0:0.0:0.0	.	622;152	Q99558;Q6ZMZ1	M3K14_HUMAN;.	S	621	.	ENSP00000342059:C621S	C	-	1	0	MAP3K14	40703671	1.000000	0.71417	0.977000	0.42913	0.270000	0.26580	8.919000	0.92770	2.064000	0.61679	0.459000	0.35465	TGC		0.642	MAP3K14-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000450941.1		NR_024434	
MLC1	23209	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50518347	50518347	+	Splice_Site	SNP	G	G	A	rs121908343		TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr22:50518347G>A	ENST00000311597.5	-	5	1029	c.423C>T	c.(421-423)aaC>aaT	p.N141N	MLC1_ENST00000395876.2_Splice_Site_p.N141N|MLC1_ENST00000450140.2_Intron|MLC1_ENST00000535444.1_Splice_Site_p.N62N|MLC1_ENST00000431262.2_Splice_Site_p.N111N|MLC1_ENST00000538737.1_Intron	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	141			N -> K (in MLC1; dbSNP:rs121908343). {ECO:0000269|PubMed:11935341}.|N -> S (in MLC1; dbSNP:rs121908344). {ECO:0000269|PubMed:11935341}.		caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.N141N(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GTGAACTCACGTTTATTGCTG	0.463																																																	1	Substitution - coding silent(1)	kidney(1)	GRCh37	CM020785	MLC1	M	rs121908343						190.0	165.0	173.0					22																	50518347		2203	4300	6503	SO:0001630	splice_region_variant	23209			D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.423+1C>T	22.37:g.50518347G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Silent	SNP	ENST00000311597.5	37	CCDS14083.1																																																																																				0.463	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2		NM_015166	Silent
MYNN	55892	hgsc.bcm.edu;ucsc.edu	37	3	169496863	169496863	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr3:169496863delG	ENST00000349841.5	+	3	1237	c.574delG	c.(574-576)gggfs	p.G192fs	RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Frame_Shift_Del_p.G192fs|MYNN_ENST00000392733.1_Frame_Shift_Del_p.G192fs|MYNN_ENST00000356716.4_Frame_Shift_Del_p.G192fs	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CCCGAAAACAGGGCAGAATAA	0.398																																																	0													63.0	63.0	63.0					3																	169496863		2203	4300	6503	SO:0001589	frameshift_variant	55892			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.574delG	3.37:g.169496863delG	ENSP00000326240:p.Gly192fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Frame_Shift_Del	DEL	ENST00000349841.5	37	CCDS3207.1																																																																																				0.398	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1		NM_018657	
NKTR	4820	hgsc.bcm.edu;ucsc.edu	37	3	42678973	42678974	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr3:42678973_42678974insA	ENST00000232978.8	+	13	1965_1966	c.1777_1778insA	c.(1777-1779)gaafs	p.E593fs	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	593					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GGCACAAAATGAAAATGTAGTA	0.406																																																	0																																										SO:0001589	frameshift_variant	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1781dupA	3.37:g.42678977_42678977dupA	ENSP00000232978:p.Glu593fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Ins	INS	ENST00000232978.8	37	CCDS2702.1																																																																																				0.406	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2		NM_005385	
NMNAT2	23057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	183230359	183230359	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr1:183230359G>T	ENST00000287713.6	-	9	1065	c.731C>A	c.(730-732)tCc>tAc	p.S244Y	NMNAT2_ENST00000294868.4_Missense_Mutation_p.S239Y	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	244					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.S244Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GAGTATTGAGGAGTGATTCAT	0.522																																																	1	Substitution - Missense(1)	kidney(1)											202.0	179.0	187.0					1																	183230359		2203	4300	6503	SO:0001583	missense	23057			AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.731C>A	1.37:g.183230359G>T	ENSP00000287713:p.Ser244Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	O75067|Q5T1Q3|Q8WU99|Q96QW1	Missense_Mutation	SNP	ENST00000287713.6	37	CCDS1353.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957618	0.92726	.	.	ENSG00000157064	ENST00000287713;ENST00000294868	D;D	0.96774	-4.12;-4.12	5.4	5.4	0.78164	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.97904	0.9311	M	0.71871	2.18	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.80764	0.99;0.994	D	0.98708	1.0703	10	0.87932	D	0	-17.4259	19.1728	0.93585	0.0:0.0:1.0:0.0	.	244;239	Q9BZQ4;Q9BZQ4-2	NMNA2_HUMAN;.	Y	244;239	ENSP00000287713:S244Y;ENSP00000294868:S239Y	ENSP00000287713:S244Y	S	-	2	0	NMNAT2	181496982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.463000	0.97652	2.526000	0.85167	0.655000	0.94253	TCC		0.522	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086255.1			
NUPL2	11097	hgsc.bcm.edu	37	7	23221811	23221811	+	Missense_Mutation	SNP	A	A	G	rs145987368	byFrequency	TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr7:23221811A>G	ENST00000258742.5	+	1	366	c.107A>G	c.(106-108)cAg>cGg	p.Q36R	NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000410002.3_Missense_Mutation_p.Q36R	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	36					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)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCAACCGCAGCAGCAGCCT	0.642																																																	0													51.0	41.0	45.0					7																	23221811		2203	4300	6503	SO:0001583	missense	11097			U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.107A>G	7.37:g.23221811A>G	ENSP00000258742:p.Gln36Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.429312	0.25726	.	.	ENSG00000136243	ENST00000258742;ENST00000410002;ENST00000413919	T;T;T	0.43688	0.94;0.94;0.94	3.37	-0.0117	0.13991	.	0.351400	0.30093	N	0.010424	T	0.29355	0.0731	L	0.56769	1.78	0.09310	N	1	B	0.32160	0.358	B	0.32805	0.153	T	0.12192	-1.0557	10	0.30854	T	0.27	0.0757	1.0493	0.01576	0.3687:0.3359:0.1191:0.1763	.	36	O15504	NUPL2_HUMAN	R	36	ENSP00000258742:Q36R;ENSP00000387330:Q36R;ENSP00000401475:Q36R	ENSP00000258742:Q36R	Q	+	2	0	NUPL2	23188336	0.739000	0.28196	0.001000	0.08648	0.061000	0.15899	0.682000	0.25335	-0.130000	0.11599	0.533000	0.62120	CAG		0.642	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2		NM_007342	
OR8U1	219417	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	56143438	56143439	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr11:56143438_56143439GC>CT	ENST00000302270.1	+	1	339_340	c.339_340GC>CT	c.(337-342)ttGCta>ttCTta	p.L113F		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L113F(1)|p.L114L(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CAGAATCCTTGCTACTGGCTTC	0.406																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	504189			AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	Exception_encountered	11.37:g.56143438_56143439delinsCT	ENSP00000304188:p.Leu113Phe	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation|Silent	SNP	ENST00000302270.1	37	CCDS41647.1																																																																																				0.406	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1		NM_001005204	
PBLD	64081	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	70056040	70056040	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr10:70056040A>C	ENST00000358769.2	-	4	468	c.266T>G	c.(265-267)gTg>gGg	p.V89G	PBLD_ENST00000432941.1_Missense_Mutation_p.V89G|PBLD_ENST00000309049.4_Missense_Mutation_p.V89G|PBLD_ENST00000336578.1_Missense_Mutation_p.V56G|PBLD_ENST00000495025.2_Missense_Mutation_p.V89G	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	89					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)	p.V89G(2)		endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						GTGAAACAGCACAGCTGCAGA	0.423																																																	2	Substitution - Missense(2)	kidney(2)											47.0	46.0	46.0					10																	70056040		2203	4300	6503	SO:0001583	missense	64081			AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.266T>G	10.37:g.70056040A>C	ENSP00000351619:p.Val89Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537484	0.65085	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.4	5.4	0.78164	.	0.070642	0.56097	D	0.000033	T	0.71341	0.3328	H	0.96833	3.89	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.75020	0.985;0.972	T	0.81324	-0.0984	10	0.87932	D	0	-17.4218	12.9657	0.58483	1.0:0.0:0.0:0.0	.	89;89	C9JIM0;P30039	.;PBLD_HUMAN	G	56;89;89;89	ENSP00000338041:V56G;ENSP00000351619:V89G;ENSP00000308466:V89G;ENSP00000395534:V89G	ENSP00000308466:V89G	V	-	2	0	PBLD	69726046	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.195000	0.58400	2.045000	0.60652	0.459000	0.35465	GTG		0.423	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1		NM_022129	
PC	5091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66616396	66616396	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr11:66616396C>T	ENST00000393958.2	-	22	3604	c.3511G>A	c.(3511-3513)Gac>Aac	p.D1171N	PC_ENST00000528224.1_5'UTR|PC_ENST00000393960.1_Missense_Mutation_p.D1171N|PC_ENST00000393955.2_Missense_Mutation_p.D1171N|PC_ENST00000529047.1_Missense_Mutation_p.D291N	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	1171	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.D1171N(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ATGAGGTCGTCACCTTCCAGT	0.592																																																	1	Substitution - Missense(1)	kidney(1)											133.0	98.0	110.0					11																	66616396		2200	4295	6495	SO:0001583	missense	5091			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.3511G>A	11.37:g.66616396C>T	ENSP00000377530:p.Asp1171Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256293	0.80246	.	.	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.11	5.11	0.69529	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.050185	0.85682	D	0.000000	T	0.57902	0.2085	L	0.31845	0.965	0.80722	D	1	P	0.39920	0.695	P	0.47981	0.563	T	0.60316	-0.7287	10	0.56958	D	0.05	-27.1587	16.0585	0.80822	0.0:1.0:0.0:0.0	.	1171	P11498	PYC_HUMAN	N	291;1171;1171;1171	ENSP00000435905:D291N;ENSP00000377527:D1171N;ENSP00000377530:D1171N;ENSP00000377532:D1171N	ENSP00000377527:D1171N	D	-	1	0	PC	66372972	0.999000	0.42202	0.200000	0.23457	0.979000	0.70002	4.542000	0.60677	2.655000	0.90218	0.655000	0.94253	GAC		0.592	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1		NM_001040716	
PER2	8864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	239180147	239180147	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr2:239180147A>G	ENST00000254657.3	-	6	857	c.578T>C	c.(577-579)tTt>tCt	p.F193S	PER2_ENST00000355768.2_Missense_Mutation_p.F193S|PER2_ENST00000440245.1_Missense_Mutation_p.F193S|PER2_ENST00000254658.3_Missense_Mutation_p.F193S	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	193	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.F193S(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGCCACCGCAAACATATCCTG	0.552																																																	1	Substitution - Missense(1)	kidney(1)											70.0	68.0	69.0					2																	239180147		2203	4300	6503	SO:0001583	missense	8864			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.578T>C	2.37:g.239180147A>G	ENSP00000254657:p.Phe193Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.317096	0.60524	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768	T;T;T;T	0.64991	0.96;-0.13;0.24;-0.13	5.06	5.06	0.68205	PAS (1);	0.000000	0.85682	D	0.000000	T	0.80341	0.4605	M	0.86028	2.79	0.80722	D	1	D;P;D;D	0.89917	0.995;0.481;0.995;1.0	D;B;D;D	0.91635	0.917;0.226;0.972;0.999	D	0.83744	0.0205	10	0.87932	D	0	-15.9238	13.0997	0.59212	1.0:0.0:0.0:0.0	.	193;193;193;193	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	S	193	ENSP00000254657:F193S;ENSP00000254658:F193S;ENSP00000397516:F193S;ENSP00000348013:F193S	ENSP00000254657:F193S	F	-	2	0	PER2	238844886	1.000000	0.71417	0.991000	0.47740	0.249000	0.25844	8.995000	0.93534	2.043000	0.60533	0.533000	0.62120	TTT		0.552	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1		NM_022817	
POMGNT1	55624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	46662429	46662429	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr1:46662429C>A	ENST00000371984.3	-	4	485	c.328G>T	c.(328-330)Gta>Tta	p.V110L	POMGNT1_ENST00000371986.3_Missense_Mutation_p.V110L|POMGNT1_ENST00000371992.1_Missense_Mutation_p.V110L|POMGNT1_ENST00000535522.1_Missense_Mutation_p.V88L|POMGNT1_ENST00000396420.3_Missense_Mutation_p.V110L|POMGNT1_ENST00000485714.1_5'Flank	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	110					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)	p.V110L(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GCCACATATACTTTGCTGCGA	0.622																																																	2	Substitution - Missense(2)	kidney(2)											93.0	81.0	85.0					1																	46662429		2203	4300	6503	SO:0001583	missense	55624				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.328G>T	1.37:g.46662429C>A	ENSP00000361052:p.Val110Leu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	CCDS531.1	.	.	.	.	.	.	.	.	.	.	C	34	5.349493	0.95830	.	.	ENSG00000085998	ENST00000396420;ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;1.25;-1.1	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	L	0.42245	1.32	0.58432	D	0.999998	D;D;D	0.71674	0.998;0.991;0.997	D;P;P	0.63877	0.919;0.76;0.76	D	0.85509	0.1196	10	0.72032	D	0.01	-10.5621	18.5129	0.90923	0.0:1.0:0.0:0.0	.	88;110;110	F5H827;Q5VST3;Q8WZA1	.;.;PMGT1_HUMAN	L	110;110;110;88;110	ENSP00000379698:V110L;ENSP00000361052:V110L;ENSP00000361060:V110L;ENSP00000443767:V88L;ENSP00000361054:V110L	ENSP00000361052:V110L	V	-	1	0	POMGNT1	46435016	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.234000	0.78134	2.362000	0.80069	0.561000	0.74099	GTA		0.622	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1		NM_017739	
PRTG	283659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	55965850	55965850	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr15:55965850C>T	ENST00000389286.4	-	10	1618	c.1571G>A	c.(1570-1572)aGt>aAt	p.S524N		NM_173814.4	NP_776175.2			protogenin									p.S524N(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACTTGTCAAACTAATTTCAGG	0.448																																																	1	Substitution - Missense(1)	kidney(1)											78.0	79.0	79.0					15																	55965850		1854	4091	5945	SO:0001583	missense	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1571G>A	15.37:g.55965850C>T	ENSP00000373937:p.Ser524Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000389286.4	37	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778938	0.90195	.	.	ENSG00000166450	ENST00000389286	T	0.59083	0.29	5.22	5.22	0.72569	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67964	-0.5534	10	0.35671	T	0.21	-16.4101	17.7877	0.88543	0.0:1.0:0.0:0.0	.	524	Q2VWP7	PRTG_HUMAN	N	524	ENSP00000373937:S524N	ENSP00000373937:S524N	S	-	2	0	PRTG	53753142	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.088000	0.57678	2.428000	0.82296	0.655000	0.94253	AGT		0.448	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1		NM_173814	
PXDNL	137902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	52361653	52361653	+	Silent	SNP	G	G	C			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr8:52361653G>C	ENST00000356297.4	-	11	1375	c.1275C>G	c.(1273-1275)ccC>ccG	p.P425P	PXDNL_ENST00000543296.1_Silent_p.P425P	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	425	Ig-like C2-type 3.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.P425P(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTTGATCCTTGGGGGTTACTG	0.383																																																	1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1275C>G	8.37:g.52361653G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	CCDS47855.1																																																																																				0.383	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1		NM_144651	
RAD52	5893	hgsc.bcm.edu;ucsc.edu	37	12	1034639	1034639	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr12:1034639delA	ENST00000358495.3	-	7	658	c.520delT	c.(520-522)tcafs	p.S174fs	RAD52_ENST00000545564.1_Frame_Shift_Del_p.I224fs|RAD52_ENST00000539046.1_Frame_Shift_Del_p.S97fs|RAD52_ENST00000536177.1_Frame_Shift_Del_p.S174fs|RAD52_ENST00000430095.2_Frame_Shift_Del_p.S174fs	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	174					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TTATTTAGTGATCTCAGGTAG	0.418								Homologous recombination																																									0													174.0	155.0	162.0					12																	1034639		2203	4300	6503	SO:0001589	frameshift_variant	5893				CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.520delT	12.37:g.1034639delA	ENSP00000351284:p.Ser174fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Frame_Shift_Del	DEL	ENST00000358495.3	37	CCDS8507.2																																																																																				0.418	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2		NM_134424	
RBMXL3	139804	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	114424200	114424200	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chrX:114424200G>T	ENST00000424776.3	+	1	238	c.196G>T	c.(196-198)Gcc>Tcc	p.A66S	LRCH2_ENST00000538422.1_Intron|LRCH2_ENST00000317135.8_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	66	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A66S(1)		endometrium(13)|kidney(2)|skin(1)	16						CAAGGCTGCCGCCAGAGATAT	0.567																																																	1	Substitution - Missense(1)	kidney(1)											48.0	48.0	48.0					X																	114424200		692	1591	2283	SO:0001583	missense	139804			AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.196G>T	X.37:g.114424200G>T	ENSP00000417451:p.Ala66Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4DXC0	Missense_Mutation	SNP	ENST00000424776.3	37	CCDS55478.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756683	0.49362	.	.	ENSG00000175718	ENST00000424776	T	0.16196	2.36	0.555	0.555	0.17247	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.25382	0.0617	L	0.32530	0.975	0.32242	N	0.572572	D	0.60575	0.988	D	0.76575	0.988	T	0.30966	-0.9960	9	0.87932	D	0	.	6.7402	0.23431	1.0E-4:0.0:0.9999:0.0	.	66	Q8N7X1	RMXL3_HUMAN	S	66	ENSP00000417451:A66S	ENSP00000417451:A66S	A	+	1	0	RBMXL3	114330456	1.000000	0.71417	0.047000	0.18901	0.025000	0.11179	4.636000	0.61339	0.513000	0.28278	0.292000	0.19580	GCC		0.567	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057968.3		NM_001145346	
RTN4IP1	84816	broad.mit.edu;ucsc.edu	37	6	107067108	107067108	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr6:107067108C>A	ENST00000369063.3	-	4	1054	c.589G>T	c.(589-591)Ggc>Tgc	p.G197C	RTN4IP1_ENST00000539449.1_Missense_Mutation_p.G197C	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	197						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.G197C(1)		breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TCATTCAGGCCACCAACTTTG	0.443																																																	1	Substitution - Missense(1)	kidney(1)											180.0	155.0	163.0					6																	107067108		2203	4300	6503	SO:0001583	missense	84816			AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.589G>T	6.37:g.107067108C>A	ENSP00000358059:p.Gly197Cys	Somatic		WXS	Illumina GAIIx	Phase_I	Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	ENST00000369063.3	37	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497388	0.85069	.	.	ENSG00000130347	ENST00000539449;ENST00000369063	T;T	0.48522	0.81;0.81	6.14	6.14	0.99180	GroES-like (1);	0.090262	0.85682	D	0.000000	T	0.61261	0.2333	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.91635	0.999;0.861	T	0.63010	-0.6732	10	0.66056	D	0.02	-5.8778	13.5646	0.61810	0.0:0.9261:0.0:0.0739	.	197;197	G3V1R2;Q8WWV3	.;RT4I1_HUMAN	C	197	ENSP00000444261:G197C;ENSP00000358059:G197C	ENSP00000358059:G197C	G	-	1	0	RTN4IP1	107173801	1.000000	0.71417	0.978000	0.43139	0.982000	0.71751	5.396000	0.66297	2.937000	0.99478	0.650000	0.86243	GGC		0.443	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1			
NEMF	9147	broad.mit.edu;ucsc.edu	37	14	50298067	50298067	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr14:50298067A>C	ENST00000298310.5	-	11	1344	c.895T>G	c.(895-897)Ttt>Gtt	p.F299V	NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.F299V|NEMF_ENST00000545773.1_Missense_Mutation_p.F257V			O60524	NEMF_HUMAN	nuclear export mediator factor	299					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.F299V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TTGGAATAAAATTCATCCACC	0.303																																																	1	Substitution - Missense(1)	kidney(1)											101.0	107.0	105.0					14																	50298067		2202	4299	6501	SO:0001583	missense	0			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.895T>G	14.37:g.50298067A>C	ENSP00000298310:p.Phe299Val	Somatic		WXS	Illumina GAIIx	Phase_I	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.413015	0.83449	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.42	5.42	0.78866	Fibronectin-binding A, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	M	0.93106	3.38	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.999;1.0;1.0;0.997	D;D;D;D;D	0.78314	0.984;0.991;0.991;0.991;0.991	T	0.81897	-0.0722	10	0.62326	D	0.03	-15.9715	15.0972	0.72244	1.0:0.0:0.0:0.0	.	299;70;274;257;299	O60524-3;F5H639;O60524-5;O60524-4;O60524	.;.;.;.;NEMF_HUMAN	V	299;257;299;70;257	ENSP00000298310:F299V;ENSP00000438309:F257V;ENSP00000441016:F299V;ENSP00000452540:F257V	ENSP00000298310:F299V	F	-	1	0	NEMF	49367817	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.409000	0.90223	2.050000	0.60909	0.477000	0.44152	TTT		0.303	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1		NM_004713	
SELPLG	6404	hgsc.bcm.edu	37	12	109017651	109017680	+	In_Frame_Del	DEL	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	-	rs200527674|rs540144714|rs368721402|rs63748999|rs372173288|rs201851784|rs377406736|rs200694582|rs200732108|rs199985195|rs558357966	byFrequency	TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr12:109017651_109017680delGAGTGGTCTGTGCCTCCGTGGGCACTGGTT	ENST00000550948.1	-	2	628_657	c.404_433delAACCAGTGCCCACGGAGGCACAGACCACTC	c.(403-435)caaccagtgcccacggaggcacagaccactcca>cca	p.QPVPTEAQTT135del	SELPLG_ENST00000228463.6_In_Frame_Del_p.QPVPTEAQTT151del|SELPLG_ENST00000388962.3_Splice_Site_p.NQCPR131del			Q14242	SELPL_HUMAN	selectin P ligand	135	12 X 10 AA tandem repeats.		Missing (in short form; not an alternative splicing; dbSNP:rs63748999). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7505206}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.Q135P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCTGCCAGTGGAGTGGTCTGTGCCTCCGTGGGCACTGGTTGAGTGGTCTG	0.617														558	0.111422	0.0817	0.0879	5008	,	,		27757	0.13		0.0835	False		,,,				2504	0.1779																1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)							,	500,3762		33,434,1664					,	-2.0	0.0		dbSNP_129	146	1398,6854		132,1134,2860	no	coding,coding	SELPLG	NM_003006.4,NM_001206609.1	,	165,1568,4524	A1A1,A1R,RR		16.9413,11.7316,15.167	,	,		1898,10616				SO:0001651	inframe_deletion	6404				CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.404_433delAACCAGTGCCCACGGAGGCACAGACCACTC	12.37:g.109017651_109017680delGAGTGGTCTGTGCCTCCGTGGGCACTGGTT	ENSP00000447752:p.Gln135_Thr144del	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Frame_Shift_Del	DEL	ENST00000550948.1	37	CCDS31895.2																																																																																				0.617	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			
SETD2	29072	broad.mit.edu;ucsc.edu	37	3	47144868	47144868	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr3:47144868G>A	ENST00000409792.3	-	7	4927	c.4885C>T	c.(4885-4887)Cac>Tac	p.H1629Y		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1629	Inhibitor binding.|S-adenosyl-L-methionine binding.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.H1629Y(2)|p.H1126Y(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCACAGCTGTGATTCATGAAA	0.333			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	4	Substitution - Missense(4)	urinary_tract(2)|kidney(2)											171.0	158.0	162.0					3																	47144868		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4885C>T	3.37:g.47144868G>A	ENSP00000386759:p.His1629Tyr	Somatic		WXS	Illumina GAIIx	Phase_I	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900072	0.92035	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.95035	-3.59	5.83	5.83	0.93111	SET domain (3);	0.000000	0.64402	D	0.000020	D	0.98560	0.9519	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99482	1.0948	10	0.87932	D	0	.	18.2989	0.90157	0.0:0.0:1.0:0.0	.	1629;1629	F2Z317;Q9BYW2	.;SETD2_HUMAN	Y	1629	ENSP00000386759:H1629Y	ENSP00000386759:H1629Y	H	-	1	0	SETD2	47119872	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.400000	0.97290	2.775000	0.95449	0.650000	0.86243	CAC		0.333	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SOS2	6655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	50597307	50597307	+	Silent	SNP	T	T	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr14:50597307T>A	ENST00000216373.5	-	20	3523	c.3249A>T	c.(3247-3249)ccA>ccT	p.P1083P	SOS2_ENST00000543680.1_Silent_p.P1050P	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1083					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P1083P(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTGGAGAGGTTGGTGCTGACA	0.418																																																	2	Substitution - coding silent(2)	kidney(2)											186.0	162.0	170.0					14																	50597307		2203	4300	6503	SO:0001819	synonymous_variant	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3249A>T	14.37:g.50597307T>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	SNP	ENST00000216373.5	37	CCDS9697.1																																																																																				0.418	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			
SVIL	6840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	29752498	29752498	+	Missense_Mutation	SNP	T	T	C	rs150671744	byFrequency	TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr10:29752498T>C	ENST00000355867.4	-	35	6952	c.6200A>G	c.(6199-6201)aAg>aGg	p.K2067R	SVIL_ENST00000375398.2_Missense_Mutation_p.K2067R|SVIL_ENST00000375400.3_Missense_Mutation_p.K1641R|SVIL_ENST00000535393.1_Missense_Mutation_p.K981R|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000423223.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2067					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.K2067R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACCAGTGATCTTGTTCTCGAT	0.587																																																	1	Substitution - Missense(1)	kidney(1)											87.0	73.0	78.0					10																	29752498		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6200A>G	10.37:g.29752498T>C	ENSP00000348128:p.Lys2067Arg	Somatic		WXS	Illumina HiSeq	Phase_I	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.091131	0.76756	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.14022	2.68;2.72;2.72;2.54	4.65	4.65	0.58169	.	0.158586	0.64402	D	0.000015	T	0.09512	0.0234	N	0.16903	0.455	0.80722	D	1	P;P;P	0.43826	0.551;0.762;0.818	B;B;B	0.41271	0.268;0.352;0.247	T	0.08330	-1.0727	10	0.72032	D	0.01	-29.1947	9.6284	0.39765	0.1557:0.0:0.0:0.8443	.	981;1641;2067	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	R	1641;2067;2067;981	ENSP00000364549:K1641R;ENSP00000364547:K2067R;ENSP00000348128:K2067R;ENSP00000445472:K981R	ENSP00000348128:K2067R	K	-	2	0	SVIL	29792504	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.771000	0.55318	1.937000	0.56155	0.533000	0.62120	AAG		0.587	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			
THAP4	51078	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	242545863	242545863	+	Silent	SNP	C	C	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr2:242545863C>A	ENST00000407315.1	-	3	1697	c.1266G>T	c.(1264-1266)gtG>gtT	p.V422V	THAP4_ENST00000402136.1_Silent_p.V10V|THAP4_ENST00000402545.1_Silent_p.V10V	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	422							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V422V(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		ACAGTGGCTCCACCACTGGGT	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											30.0	26.0	27.0					2																	242545863		2203	4295	6498	SO:0001819	synonymous_variant	51078			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.1266G>T	2.37:g.242545863C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	37	CCDS2551.1																																																																																				0.587	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3		NM_015963	
TJAP1	93643	broad.mit.edu;ucsc.edu	37	6	43469319	43469319	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr6:43469319C>A	ENST00000372445.5	+	6	560	c.184C>A	c.(184-186)Cgc>Agc	p.R62S	TJAP1_ENST00000436109.2_Missense_Mutation_p.R62S|TJAP1_ENST00000372452.1_Missense_Mutation_p.R62S|TJAP1_ENST00000372444.2_Missense_Mutation_p.R62S|TJAP1_ENST00000259751.1_Missense_Mutation_p.R62S|TJAP1_ENST00000372449.1_Missense_Mutation_p.R62S|TJAP1_ENST00000438588.2_Missense_Mutation_p.R62S|TJAP1_ENST00000483640.1_3'UTR	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	62					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)		p.R62S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CGCCACCAGACGCACTGAGGC	0.592																																																	1	Substitution - Missense(1)	kidney(1)											39.0	43.0	42.0					6																	43469319		2203	4300	6503	SO:0001583	missense	93643			AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.184C>A	6.37:g.43469319C>A	ENSP00000361522:p.Arg62Ser	Somatic		WXS	Illumina GAIIx	Phase_I	Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	CCDS55004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.149793|4.149793	0.78001|0.78001	.|.	.|.	ENSG00000137221|ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000442878;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588|ENST00000454762	T;T;T;T;T;T;T;T|.	0.79554|.	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.149133|.	0.42053|.	D|.	0.000774|.	T|T	0.43919|0.43919	0.1269|0.1269	L|L	0.55481|0.55481	1.735|1.735	0.31866|0.31866	N|N	0.62032|0.62032	P;D;P|.	0.71674|.	0.505;0.998;0.946|.	B;D;P|.	0.80764|.	0.148;0.994;0.671|.	T|T	0.43734|0.43734	-0.9373|-0.9373	10|5	0.52906|.	T|.	0.07|.	-7.1808|-7.1808	11.5554|11.5554	0.50743|0.50743	0.2278:0.7722:0.0:0.0|0.2278:0.7722:0.0:0.0	.|.	62;62;62|.	E2QRK7;Q5JTD0;Q5JTD0-2|.	.;TJAP1_HUMAN;.|.	S|K	62|19	ENSP00000361521:R62S;ENSP00000361522:R62S;ENSP00000407080:R62S;ENSP00000390981:R62S;ENSP00000259751:R62S;ENSP00000361530:R62S;ENSP00000361527:R62S;ENSP00000408769:R62S|.	ENSP00000259751:R62S|.	R|T	+|+	1|2	0|0	TJAP1|TJAP1	43577297|43577297	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	4.389000|4.389000	0.59639|0.59639	2.377000|2.377000	0.81083|0.81083	0.449000|0.449000	0.29647|0.29647	CGC|ACG		0.592	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1		NM_080604	
TXNDC16	57544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	52922174	52922174	+	Silent	SNP	G	G	C			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr14:52922174G>C	ENST00000281741.4	-	18	2081	c.1710C>G	c.(1708-1710)acC>acG	p.T570T	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	570					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)		p.T570T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CAGCATATTTGGTTGACCTAT	0.443																																																	1	Substitution - coding silent(1)	kidney(1)											173.0	145.0	155.0					14																	52922174		2203	4300	6503	SO:0001819	synonymous_variant	57544			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1710C>G	14.37:g.52922174G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Silent	SNP	ENST00000281741.4	37	CCDS32083.1																																																																																				0.443	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1		XM_051699	
TMEM63C	57156	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	77723017	77723017	+	Missense_Mutation	SNP	C	C	T	rs185516701	byFrequency	TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr14:77723017C>T	ENST00000298351.4	+	24	2513	c.2369C>T	c.(2368-2370)tCg>tTg	p.S790L		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	790					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)	p.S790L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GAGCTAGACTCGGCCCAGTTC	0.627													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17907	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											85.0	93.0	90.0					14																	77723017		1974	4155	6129	SO:0001583	missense	57156				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.2369C>T	14.37:g.77723017C>T	ENSP00000298351:p.Ser790Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	CCDS45141.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	9.509	1.105342	0.20632	.	.	ENSG00000165548	ENST00000298351;ENST00000536110	T	0.18502	2.21	5.38	3.41	0.39046	.	0.941123	0.08846	N	0.885111	T	0.18593	0.0446	L	0.54323	1.7	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.05386	-1.0888	10	0.46703	T	0.11	-3.6579	9.3331	0.38034	0.216:0.6577:0.1262:0.0	.	790	Q9P1W3	TM63C_HUMAN	L	790;360	ENSP00000298351:S790L	ENSP00000298351:S790L	S	+	2	0	TMEM63C	76792770	0.002000	0.14202	0.921000	0.36526	0.016000	0.09150	1.771000	0.38542	2.525000	0.85131	0.655000	0.94253	TCG		0.627	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			
VCAN	1462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	82836753	82836753	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr5:82836753C>T	ENST00000265077.3	+	8	8496	c.7931C>T	c.(7930-7932)gCt>gTt	p.A2644V	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.A1657V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2644	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.A2644V(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GATGTTCTGGCTAGCTACACT	0.438																																																	1	Substitution - Missense(1)	kidney(1)											115.0	113.0	114.0					5																	82836753		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7931C>T	5.37:g.82836753C>T	ENSP00000265077:p.Ala2644Val	Somatic		WXS	Illumina HiSeq	Phase_I	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067320	0.36470	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.47177	0.85;0.85	5.8	4.93	0.64822	.	0.664334	0.14710	N	0.302988	T	0.54319	0.1851	M	0.67953	2.075	0.09310	N	0.999998	P;B	0.51933	0.949;0.067	P;B	0.51415	0.669;0.015	T	0.50389	-0.8834	10	0.44086	T	0.13	.	9.0919	0.36617	0.0:0.825:0.0:0.175	.	1657;2644	P13611-2;P13611	.;CSPG2_HUMAN	V	2644;1657	ENSP00000265077:A2644V;ENSP00000340062:A1657V	ENSP00000265077:A2644V	A	+	2	0	VCAN	82872509	0.000000	0.05858	0.008000	0.14137	0.736000	0.42039	0.597000	0.24059	2.747000	0.94245	0.462000	0.41574	GCT		0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3		NM_004385	
VCX3B	425054	hgsc.bcm.edu	37	X	8434347	8434376	+	In_Frame_Del	DEL	GAACCACTGAGTCAGGAGAGCGAGATGGAA	GAACCACTGAGTCAGGAGAGCGAGATGGAA	-	rs113934664|rs112788017|rs199956874|rs139169782|rs113552891		TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	GAACCACTGAGTCAGGAGAGCGAGATGGAA	GAACCACTGAGTCAGGAGAGCGAGATGGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chrX:8434347_8434376delGAACCACTGAGTCAGGAGAGCGAGATGGAA	ENST00000381032.1	+	3	971_1000	c.664_693delGAACCACTGAGTCAGGAGAGCGAGATGGAA	c.(664-693)gaaccactgagtcaggagagcgagatggaadel	p.EPLSQESEME232del	VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000444481.1_In_Frame_Del_p.EPLSQESEME202del|VCX3B_ENST00000440654.2_Splice_Site_p.EPLSQ172del|VCX3B_ENST00000381029.4_In_Frame_Del_p.EPLSQESEME200del	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	232	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)		p.E192K(1)		NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						CCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGA	0.565																																																	1	Substitution - Missense(1)	skin(1)																																								SO:0001651	inframe_deletion	425054				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.664_693delGAACCACTGAGTCAGGAGAGCGAGATGGAA	X.37:g.8434347_8434376delGAACCACTGAGTCAGGAGAGCGAGATGGAA	ENSP00000370420:p.Glu232_Glu241del	Somatic		WXS	Illumina HiSeq	Phase_I	C9JS46|Q4KN12	In_Frame_Del	DEL	ENST00000381032.1	37	CCDS48077.2																																																																																				0.565	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			
ZFY	7544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	Y	2829189	2829189	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chrY:2829189G>A	ENST00000155093.3	+	3	457	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	ZFY_ENST00000449237.1_Missense_Mutation_p.V20M|ZFY_ENST00000431102.1_Intron|ZFY_ENST00000383052.1_Missense_Mutation_p.V46M	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	46					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.V46M(1)		biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						TTCTAATATTGTGGATTCTGA	0.358																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	7544			L10393	CCDS14774.1, CCDS48200.1, CCDS48201.1	Yp11.3	2013-01-08			ENSG00000067646	ENSG00000067646		"""Zinc fingers, C2H2-type"""	12870	protein-coding gene	gene with protein product		490000				2497060	Standard	NM_001145275		Approved	ZNF911	uc004fqj.3	P08048	OTTHUMG00000036159	ENST00000155093.3:c.136G>A	Y.37:g.2829189G>A	ENSP00000155093:p.Val46Met	Somatic		WXS	Illumina HiSeq	Phase_I	B4DVF7|Q14021|Q15558|Q1RME9|Q24JR0|Q96TF3	Missense_Mutation	SNP	ENST00000155093.3	37	CCDS14774.1																																																																																				0.358	ZFY-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088063.1		NM_003411	
ZNF570	148268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	37967302	37967302	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr19:37967302G>A	ENST00000330173.1	+	4	751	c.222G>A	c.(220-222)atG>atA	p.M74I	ZNF570_ENST00000586475.1_Missense_Mutation_p.M130I|ZNF570_ENST00000388801.3_De_novo_Start_OutOfFrame	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.M74I(1)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACCCTGGATGGTGAAGAGAG	0.408																																																	1	Substitution - Missense(1)	kidney(1)											95.0	87.0	90.0					19																	37967302		2203	4300	6503	SO:0001583	missense	148268			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.222G>A	19.37:g.37967302G>A	ENSP00000331540:p.Met74Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	G	4.361	0.066501	0.08388	.	.	ENSG00000171827	ENST00000330173	T	0.03951	3.75	3.5	-0.0704	0.13748	Krueppel-associated box (2);	.	.	.	.	T	0.04272	0.0118	L	0.39245	1.2	0.28767	N	0.900578	B	0.17038	0.02	B	0.14023	0.01	T	0.37957	-0.9683	9	0.30078	T	0.28	.	6.4601	0.21952	0.1072:0.3527:0.5401:0.0	.	74	Q96NI8	ZN570_HUMAN	I	74	ENSP00000331540:M74I	ENSP00000331540:M74I	M	+	3	0	ZNF570	42659142	0.003000	0.15002	0.723000	0.30687	0.979000	0.70002	0.225000	0.17757	-0.109000	0.12044	0.467000	0.42956	ATG		0.408	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1		NM_144694	
ZNF175	7728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52090388	52090388	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr19:52090388G>T	ENST00000262259.2	+	5	1162	c.804G>T	c.(802-804)aaG>aaT	p.K268N	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	268					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K268N(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AGTCACTCAAGCAACATCAAA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											87.0	87.0	87.0					19																	52090388		2203	4299	6502	SO:0001583	missense	7728			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.804G>T	19.37:g.52090388G>T	ENSP00000262259:p.Lys268Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.814881	0.00600	.	.	ENSG00000105497	ENST00000262259	T	0.16196	2.36	2.43	-4.86	0.03132	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.12860	0.0312	M	0.69463	2.115	0.44685	D	0.997679	B	0.14012	0.009	B	0.10450	0.005	T	0.18335	-1.0340	9	0.27082	T	0.32	.	2.3581	0.04301	0.5479:0.1245:0.2035:0.1241	.	268	Q9Y473	ZN175_HUMAN	N	268	ENSP00000262259:K268N	ENSP00000262259:K268N	K	+	3	2	ZNF175	56782200	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.569000	0.00428	-2.096000	0.00852	-2.034000	0.00421	AAG		0.428	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1		NM_007147	
ZNF678	339500	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	227842449	227842449	+	Silent	SNP	A	A	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr1:227842449A>T	ENST00000343776.5	+	4	843	c.498A>T	c.(496-498)tcA>tcT	p.S166S	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Silent_p.S221S	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	166					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.S221S(1)|p.S166S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ATTGGTGGTCACAACTAACTA	0.338																																																	2	Substitution - coding silent(2)	kidney(2)											72.0	85.0	81.0					1																	227842449		2202	4298	6500	SO:0001819	synonymous_variant	339500			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.498A>T	1.37:g.227842449A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8IVQ9	Silent	SNP	ENST00000343776.5	37																																																																																					0.338	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2		NM_178549	
ZNF707	286075	broad.mit.edu;ucsc.edu	37	8	144776493	144776493	+	Silent	SNP	C	C	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr8:144776493C>T	ENST00000532205.1	+	8	1808	c.909C>T	c.(907-909)ctC>ctT	p.L303L	ZNF707_ENST00000418203.2_Silent_p.L303L|RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000358656.4_Silent_p.L303L|ZNF707_ENST00000454097.1_Silent_p.L303L|ZNF707_ENST00000532158.1_Silent_p.L303L			Q96C28	ZN707_HUMAN	zinc finger protein 707	303					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.L303L(1)		breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGAGAACCTCAGCCACCACC	0.647																																																	1	Substitution - coding silent(1)	kidney(1)											29.0	37.0	35.0					8																	144776493		2174	4285	6459	SO:0001819	synonymous_variant	286075			AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.909C>T	8.37:g.144776493C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A8K317|B3KNY1|D3DWK7	Silent	SNP	ENST00000532205.1	37	CCDS47932.1																																																																																				0.647	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1		NM_173831	
ZNF727	442319	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	63537854	63537854	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr7:63537854A>T	ENST00000550760.3	+	4	606	c.427A>T	c.(427-429)Aaa>Taa	p.K143*	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	143					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.K143*(1)		endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						TACCCGTAGCAAAACCTGTCA	0.368																																																	1	Substitution - Nonsense(1)	kidney(1)											86.0	71.0	76.0					7																	63537854		692	1591	2283	SO:0001587	stop_gained	442319					7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.427A>T	7.37:g.63537854A>T	ENSP00000447987:p.Lys143*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000550760.3	37	CCDS55113.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660765	0.29515	.	.	ENSG00000257482	ENST00000550760	.	.	.	0.158	0.158	0.14942	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6578	0.12626	0.9996:0.0:4.0E-4:0.0	.	.	.	.	X	143	.	.	K	+	1	0	ZNF727	63175289	0.864000	0.29904	0.009000	0.14445	0.014000	0.08584	3.509000	0.53386	0.175000	0.19841	0.172000	0.16884	AAA		0.368	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001159522	
ZNF770	54989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	35275034	35275034	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr15:35275034G>A	ENST00000356321.4	-	3	946	c.602C>T	c.(601-603)aCt>aTt	p.T201I		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	201					regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)	p.T201I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTTTAAGTGAGTTGACTGTCG	0.338																																																	1	Substitution - Missense(1)	kidney(1)											64.0	61.0	63.0					15																	35275034		2201	4298	6499	SO:0001583	missense	54989			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.602C>T	15.37:g.35275034G>A	ENSP00000348673:p.Thr201Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.477983	0.44044	.	.	ENSG00000198146	ENST00000356321	T	0.07908	3.15	5.28	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.204155	0.35585	N	0.003117	T	0.14399	0.0348	L	0.31578	0.945	0.23791	N	0.996835	D	0.65815	0.995	P	0.61477	0.889	T	0.02966	-1.1088	10	0.66056	D	0.02	-9.0497	10.2858	0.43566	0.0729:0.1375:0.7896:0.0	.	201	Q6IQ21	ZN770_HUMAN	I	201	ENSP00000348673:T201I	ENSP00000348673:T201I	T	-	2	0	ZNF770	33062326	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.526000	0.45607	1.412000	0.46977	0.655000	0.94253	ACT		0.338	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2		NM_014106	
ARHGEF35	445328	broad.mit.edu	37	7	143884368	143884368	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr7:143884368G>A	ENST00000378115.2	-	2	1238	c.1109C>T	c.(1108-1110)cCa>cTa	p.P370L	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.P370L	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	370	Glu-rich.							p.P370L(1)		kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CCCGCTGACTGGGACCCCTTT	0.537																																																	1	Substitution - Missense(1)	kidney(1)											46.0	46.0	46.0					7																	143884368		1896	3567	5463	SO:0001583	missense	445328			AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"""Rho guanine nucleotide exchange factors"""	33846	protein-coding gene	gene with protein product			"""Rho guanine nucleotide exchange factor (GEF) 5-like"""	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000378115.2:c.1109C>T	7.37:g.143884368G>A	ENSP00000367355:p.Pro370Leu	Somatic		WXS	Illumina GAIIx	Phase_I	Q6ZUI2	Missense_Mutation	SNP	ENST00000378115.2	37	CCDS34770.1	.	.	.	.	.	.	.	.	.	.	.	8.132	0.783252	0.16189	.	.	ENSG00000213214	ENST00000378115;ENST00000543357	.	.	.	2.34	1.4	0.22301	.	.	.	.	.	T	0.15478	0.0373	N	0.19112	0.55	0.09310	N	1	P	0.40282	0.711	B	0.32724	0.151	T	0.10405	-1.0631	8	0.46703	T	0.11	.	6.3286	0.21257	0.0:0.0:0.7084:0.2916	.	370	A5YM69	ARG35_HUMAN	L	370	.	ENSP00000367355:P370L	P	-	2	0	ARHGEF35	143515301	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.382000	0.20635	0.284000	0.22305	0.184000	0.17185	CCA		0.537	ARHGEF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349997.1		NM_001003702	
HMGN2P46	283651	broad.mit.edu	37	15	45848231	45848231	+	lincRNA	DEL	T	T	-	rs372861121|rs368577527		TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr15:45848231delT	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TTTGTTTAGCTTTTTTTTTTT	0.323																																																	0																																												0																															15.37:g.45848231delT		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000557965.1	37																																																																																					0.323	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			
CELF3	11189	broad.mit.edu	37	1	151679697	151679697	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr1:151679697G>T	ENST00000290583.4	-	8	1639	c.846C>A	c.(844-846)taC>taA	p.Y282*	RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Intron|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_Nonsense_Mutation_p.Y99*	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	282					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.Y282*(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						GCACCGGGCTGTAGCCGTTGA	0.672																																																	1	Substitution - Nonsense(1)	kidney(1)											24.0	23.0	24.0					1																	151679697		2178	4276	6454	SO:0001587	stop_gained	11189			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.846C>A	1.37:g.151679697G>T	ENSP00000290583:p.Tyr282*	Somatic		WXS	Illumina GAIIx	Phase_I	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Nonsense_Mutation	SNP	ENST00000290583.4	37	CCDS1002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	43|43	9.981604|9.981604	0.99310|0.99310	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000420342|ENST00000290583;ENST00000392706	.|.	.|.	.|.	3.86|3.86	3.86|3.86	0.44501|0.44501	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.14399|.	0.0348|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.06789|.	-1.0807|.	3|.	.|0.09338	.|T	.|0.73	-4.7475|-4.7475	8.5218|8.5218	0.33279|0.33279	0.1086:0.0:0.8914:0.0|0.1086:0.0:0.8914:0.0	.|.	.|.	.|.	.|.	K|X	283|282;99	.|.	.|ENSP00000290583:Y282X	T|Y	-|-	2|3	0|2	CELF3|CELF3	149946321|149946321	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.195000|6.195000	0.72088|0.72088	2.008000|2.008000	0.58898|0.58898	0.555000|0.555000	0.69702|0.69702	ACA|TAC		0.672	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2		NM_007185	
DNAH8	1769	broad.mit.edu	37	6	38758105	38758105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr6:38758105G>A	ENST00000359357.3	+	18	2308	c.2054G>A	c.(2053-2055)tGg>tAg	p.W685*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W685*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.W902*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	685					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.W685*(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTGTTAACATGGTCGTCTTTA	0.358																																																	2	Substitution - Nonsense(2)	kidney(2)											169.0	162.0	164.0					6																	38758105		2203	4300	6503	SO:0001587	stop_gained	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2054G>A	6.37:g.38758105G>A	ENSP00000352312:p.Trp685*	Somatic		WXS	Illumina GAIIx	Phase_I	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	39	7.711465	0.98447	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2811	0.87128	0.0:0.0:1.0:0.0	.	.	.	.	X	890;890;685;685	.	ENSP00000333363:W890X	W	+	2	0	DNAH8	38866083	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	7.509000	0.81698	2.575000	0.86900	0.650000	0.86243	TGG		0.358	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1		NM_001206927	
FIS1	51024	broad.mit.edu	37	7	100883107	100883107	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr7:100883107C>T	ENST00000223136.4	-	5	519	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	FIS1_ENST00000482199.1_5'UTR|FIS1_ENST00000442303.1_3'UTR|CLDN15_ENST00000401528.1_5'Flank|CLDN15_ENST00000308344.5_5'Flank|FIS1_ENST00000474120.1_3'UTR|CLDN15_ENST00000433422.1_5'Flank	NM_016068.2	NP_057152.2	Q9Y3D6	FIS1_HUMAN	fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)	147					calcium-mediated signaling using intracellular calcium source (GO:0035584)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|mitochondrion morphogenesis (GO:0070584)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|peroxisome fission (GO:0016559)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|release of cytochrome c from mitochondria (GO:0001836)	integral component of mitochondrial outer membrane (GO:0031307)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|protein complex (GO:0043234)	receptor binding (GO:0005102)	p.V147M(1)		kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					GACTTGGACACAGCAAGTCCG	0.637																																																	1	Substitution - Missense(1)	kidney(1)											28.0	33.0	31.0					7																	100883107		2052	4167	6219	SO:0001583	missense	51024			AF151893	CCDS43626.1	7q22.1	2012-10-01	2006-04-04	2006-01-24	ENSG00000214253	ENSG00000214253			21689	protein-coding gene	gene with protein product	"""CGI-135 protein"""	609003	"""tetratricopeptide repeat domain 11"", ""fission 1 (mitochondrial outer membrane) homolog (yeast)"""	TTC11		14996942, 16010987	Standard	NM_016068		Approved	CGI-135, H_NH0132A01.6, Fis1	uc003uyj.4	Q9Y3D6	OTTHUMG00000157106	ENST00000223136.4:c.439G>A	7.37:g.100883107C>T	ENSP00000223136:p.Val147Met	Somatic		WXS	Illumina GAIIx	Phase_I	Q9BTP3	Missense_Mutation	SNP	ENST00000223136.4	37	CCDS43626.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.78|14.78	2.637379|2.637379	0.47049|0.47049	.|.	.|.	ENSG00000214253|ENSG00000214253	ENST00000435848|ENST00000223136	.|.	.|.	.|.	4.79|4.79	3.89|3.89	0.44902|0.44902	.|.	.|0.000000	.|0.52532	.|U	.|0.000074	T|T	0.29458|0.29458	0.0734|0.0734	N|N	0.20483|0.20483	0.58|0.58	0.31550|0.31550	N|N	0.658811|0.658811	.|P	.|0.41498	.|0.752	.|P	.|0.45681	.|0.49	T|T	0.21484|0.21484	-1.0244|-1.0244	6|9	0.87932|0.24483	D|T	0|0.36	.|.	6.4545|6.4545	0.21922|0.21922	0.0:0.7166:0.1864:0.0969|0.0:0.7166:0.1864:0.0969	.|.	.|147	.|Q9Y3D6	.|FIS1_HUMAN	Y|M	101|147	.|.	ENSP00000413500:C101Y|ENSP00000223136:V147M	C|V	-|-	2|1	0|0	FIS1|FIS1	100669827|100669827	0.997000|0.997000	0.39634|0.39634	0.859000|0.859000	0.33776|0.33776	0.991000|0.991000	0.79684|0.79684	2.716000|2.716000	0.47219|0.47219	1.199000|1.199000	0.43173|0.43173	0.561000|0.561000	0.74099|0.74099	TGT|GTG		0.637	FIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347449.1		NM_016068	
KCNG4	93107	broad.mit.edu	37	16	84270394	84270394	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr16:84270394G>T	ENST00000308251.4	-	2	766	c.698C>A	c.(697-699)aCc>aAc	p.T233N	KCNG4_ENST00000568181.1_Missense_Mutation_p.T233N	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	233					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.T233N(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GACGGCTGTGGTGGCCACGAA	0.657																																																	1	Substitution - Missense(1)	kidney(1)											38.0	37.0	37.0					16																	84270394		2200	4300	6500	SO:0001583	missense	93107			AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.698C>A	16.37:g.84270394G>T	ENSP00000312129:p.Thr233Asn	Somatic		WXS	Illumina GAIIx	Phase_I	Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024886	0.75390	.	.	ENSG00000168418	ENST00000308251	D	0.97480	-4.4	5.11	5.11	0.69529	.	0.112837	0.64402	D	0.000013	D	0.98270	0.9427	M	0.76838	2.35	0.40406	D	0.979705	D;D	0.76494	0.964;0.999	P;D	0.71656	0.737;0.974	D	0.99897	1.1151	10	0.87932	D	0	.	17.5437	0.87855	0.0:0.0:1.0:0.0	.	233;233	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	N	233	ENSP00000312129:T233N	ENSP00000312129:T233N	T	-	2	0	KCNG4	82827895	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.042000	0.64202	2.364000	0.80123	0.549000	0.68633	ACC		0.657	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2		NM_172347	
Unknown	0	broad.mit.edu	37	12	88906	88906	+	IGR	SNP	A	A	T			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr12:88906A>T								AC215219.1 (15584 upstream) : AC026369.1 (58145 downstream)																							ccccaccaccacccccaGCTC	0.642																																																	0																																										SO:0001628	intergenic_variant	100288778																															12.37:g.88906A>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP		37																																																																																				0	0.642									
POM121L9P	29774	broad.mit.edu	37	22	24660701	24660701	+	RNA	DEL	A	A	-	rs71189239	byFrequency	TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr22:24660701delA	ENST00000414583.2	+	0	4226					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		AGATTGTTTGAAAAAAAAAAA	0.363													|||unknown(HR)	1360	0.271565	0.2239	0.3646	5008	,	,		19604	0.2788		0.3072	False		,,,				2504	0.226																0																																												29774			AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24660701delA		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000414583.2	37																																																																																					0.363	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1		NM_014549	
PTPN6	5777	broad.mit.edu	37	12	7069507	7069507	+	Splice_Site	SNP	T	T	C			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr12:7069507T>C	ENST00000318974.9	+	14	1826	c.1582T>C	c.(1582-1584)Tcg>Ccg	p.S528P	PTPN6_ENST00000447931.2_Splice_Site_p.S489P|PTPN6_ENST00000456013.1_Splice_Site_p.S528P|U47924.27_ENST00000537269.1_lincRNA|PTPN6_ENST00000399448.1_Splice_Site_p.S530P|PTPN6_ENST00000539029.1_3'UTR	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	528					abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S528P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CTGCCCACAGTCGCAGAAGGG	0.667																																																	1	Substitution - Missense(1)	kidney(1)											54.0	63.0	60.0					12																	7069507		2078	4200	6278	SO:0001630	splice_region_variant	5777				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.1582-1T>C	12.37:g.7069507T>C		Somatic		WXS	Illumina GAIIx	Phase_I	A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	T	7.568	0.666192	0.14710	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	T;T;T;T	0.14391	2.59;2.55;2.53;2.51	4.86	2.25	0.28309	.	0.608369	0.15572	N	0.255374	T	0.12347	0.0300	L	0.57536	1.79	0.36013	D	0.838238	B;B;B;B;B	0.28933	0.088;0.012;0.228;0.009;0.001	B;B;B;B;B	0.23150	0.02;0.018;0.044;0.012;0.003	T	0.11060	-1.0603	9	.	.	.	.	7.7044	0.28642	0.1381:0.0:0.1444:0.7175	.	516;489;528;528;530	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	P	530;489;528;528	ENSP00000382376:S530P;ENSP00000415979:S489P;ENSP00000326010:S528P;ENSP00000391592:S528P	.	S	+	1	0	PTPN6	6939768	0.995000	0.38212	0.995000	0.50966	0.044000	0.14063	0.769000	0.26604	0.824000	0.34613	0.459000	0.35465	TCG		0.667	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1		NM_002831	Missense_Mutation
PVRIG	79037	broad.mit.edu	37	7	99818579	99818579	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5671-01A-11D-1534-10	TCGA-CJ-5671-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b1084bb-3fb2-4f3f-9ca7-7108b0f77994	474c3c87-dc39-4106-850a-8d802a30eb14	g.chr7:99818579T>C	ENST00000317271.2	+	6	1049	c.686T>C	c.(685-687)cTt>cCt	p.L229P	GATS_ENST00000436886.2_Intron|AC005071.1_ENST00000410550.1_RNA|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	229						integral component of membrane (GO:0016021)		p.L229P(1)		breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGGCTGCTCTTCACGTCCCT	0.682																																																	1	Substitution - Missense(1)	kidney(1)											70.0	74.0	72.0					7																	99818579		2203	4300	6503	SO:0001583	missense	79037			BC001129	CCDS5690.1	7q22.1	2013-06-26			ENSG00000213413	ENSG00000213413			32190	protein-coding gene	gene with protein product						16926269	Standard	NM_024070		Approved	MGC2463, C7orf15	uc003uuf.1	Q6DKI7	OTTHUMG00000156798	ENST00000317271.2:c.686T>C	7.37:g.99818579T>C	ENSP00000316675:p.Leu229Pro	Somatic		WXS	Illumina GAIIx	Phase_I	D6W5U9|Q9BVK3	Missense_Mutation	SNP	ENST00000317271.2	37	CCDS5690.1	.	.	.	.	.	.	.	.	.	.	t	12.52	1.963056	0.34659	.	.	ENSG00000213413	ENST00000317271	T	0.60299	0.2	3.0	1.79	0.24919	.	.	.	.	.	T	0.56615	0.1997	L	0.27053	0.805	0.09310	N	0.999999	D	0.69078	0.997	D	0.63703	0.917	T	0.42275	-0.9461	9	0.66056	D	0.02	.	5.3339	0.15947	0.2863:0.0:0.0:0.7137	.	229	Q6DKI7	PVRIG_HUMAN	P	229	ENSP00000316675:L229P	ENSP00000316675:L229P	L	+	2	0	PVRIG	99656515	0.000000	0.05858	0.018000	0.16275	0.004000	0.04260	-0.400000	0.07241	0.519000	0.28406	-0.700000	0.03674	CTT		0.682	PVRIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345870.2		NM_024070	
