#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_type
COLEC12	81035	genome.wustl.edu	37	18	346824	346824	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr18:346824C>G	ENST00000400256.3	-	5	1005	c.798G>C	c.(796-798)caG>caC	p.Q266H		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	266					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.Q266H(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CAGCCAGCGTCTGCAAGCTCT	0.498																																																1	Substitution - Missense(1)	ovary(1)	18											129.0	108.0	115.0					18																	346824		2203	4300	6503	336824	SO:0001583	missense	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.798G>C	18.37:g.346824C>G	ENSP00000383115:p.Gln266His	Somatic		Capture	Illumina GAIIx	4	336824	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	CCDS32782.1	SNP	32	WashU	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327915	0.41197	.	.	ENSG00000158270	ENST00000400256	T	0.79247	-1.25	6.08	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.82600	0.5072	L	0.34521	1.04	0.52501	D	0.999955	D	0.89917	1.0	D	0.83275	0.996	D	0.83790	0.0230	10	0.72032	D	0.01	-15.6066	16.2862	0.82722	0.0:0.9271:0.0:0.0729	.	266	Q5KU26	COL12_HUMAN	H	266	ENSP00000383115:Q266H	ENSP00000383115:Q266H	Q	-	3	2	COLEC12	336824	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.938000	0.40203	2.894000	0.99253	0.655000	0.94253	CAG		0.498	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			Missense_Mutation
LARP4B	23185	genome.wustl.edu	37	10	875530	875530	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr10:875530C>T	ENST00000316157.3	-	10	960	c.920G>A	c.(919-921)cGg>cAg	p.R307Q		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	307	RRM.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.R307Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TGCTTTTATCCGTGCCTGTTT	0.388																																																1	Substitution - Missense(1)	ovary(1)	10											98.0	80.0	86.0					10																	875530		2203	4300	6503	865530	SO:0001583	missense	23185			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.920G>A	10.37:g.875530C>T	ENSP00000326128:p.Arg307Gln	Somatic		Capture	Illumina GAIIx	4	865530	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	CCDS31131.1	SNP	23	WashU	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788891	0.90367	.	.	ENSG00000107929	ENST00000316157	T	0.35605	1.3	5.51	5.51	0.81932	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57347	-0.7827	10	0.72032	D	0.01	1.4752	19.7859	0.96437	0.0:1.0:0.0:0.0	.	307	Q92615	LAR4B_HUMAN	Q	307	ENSP00000326128:R307Q	ENSP00000326128:R307Q	R	-	2	0	LARP4B	865530	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	7.669000	0.83911	2.746000	0.94184	0.655000	0.94253	CGG		0.388	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		Missense_Mutation
PRPF8	10594	genome.wustl.edu	37	17	1578513	1578513	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01	TCGA-24-1469-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr17:1578513C>G	ENST00000572621.1	-	19	3258	c.2993G>C	c.(2992-2994)cGc>cCc	p.R998P	PRPF8_ENST00000304992.6_Missense_Mutation_p.R998P			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	998	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.R998P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CACGATGAGGCGCAGCAGCCT	0.512																																																1	Substitution - Missense(1)	ovary(1)	17											210.0	144.0	166.0					17																	1578513		2203	4300	6503	1525263	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.2993G>C	17.37:g.1578513C>G	ENSP00000460348:p.Arg998Pro	Somatic		Capture	Illumina GAIIx	4	1525263	O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	SNP	27	WashU	.	.	.	.	.	.	.	.	.	.	C	32	5.145078	0.94603	.	.	ENSG00000174231	ENST00000304992	D	0.82433	-1.61	5.89	5.89	0.94794	RNA recognition motif, spliceosomal PrP8 (1);	0.000000	0.85682	D	0.000000	D	0.94169	0.8129	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94914	0.8067	10	0.87932	D	0	.	20.2562	0.98421	0.0:1.0:0.0:0.0	.	998	Q6P2Q9	PRP8_HUMAN	P	998	ENSP00000304350:R998P	ENSP00000304350:R998P	R	-	2	0	PRPF8	1525263	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.818000	0.86416	2.797000	0.96272	0.563000	0.77884	CGC		0.512	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			Missense_Mutation
TGM3	7053	genome.wustl.edu	37	20	2320522	2320522	+	Missense_Mutation	SNP	G	G	A	rs374127604		TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr20:2320522G>A	ENST00000381458.5	+	12	1886	c.1823G>A	c.(1822-1824)cGg>cAg	p.R608Q		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	608					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.R608Q(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCTCGTGTGCGGAAGCCTGTG	0.637																																																1	Substitution - Missense(1)	ovary(1)	20						G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	92.0	75.0	81.0		1823	-4.0	0.1	20		81	0,8600		0,0,4300	no	missense	TGM3	NM_003245.3	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	608/694	2320522	2,13004	2203	4300	6503	2268522	SO:0001583	missense	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1823G>A	20.37:g.2320522G>A	ENSP00000370867:p.Arg608Gln	Somatic		Capture	Illumina GAIIx	4	2268522	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	CCDS33435.1	SNP	39	WashU	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522793	0.27211	4.54E-4	0.0	ENSG00000125780	ENST00000381458	T	0.68025	-0.3	5.26	-3.98	0.04082	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	1.405290	0.04301	N	0.347352	T	0.52125	0.1715	N	0.21448	0.665	0.09310	N	1	B	0.19200	0.034	B	0.04013	0.001	T	0.39941	-0.9589	10	0.35671	T	0.21	-8.4543	12.9458	0.58371	0.3938:0.0:0.6062:0.0	.	608	Q08188	TGM3_HUMAN	Q	608	ENSP00000370867:R608Q	ENSP00000370867:R608Q	R	+	2	0	TGM3	2268522	0.000000	0.05858	0.108000	0.21378	0.032000	0.12392	-0.218000	0.09240	-0.824000	0.04295	-0.258000	0.10820	CGG		0.637	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		Missense_Mutation
FAM193A	8603	genome.wustl.edu	37	4	2698260	2698260	+	Silent	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr4:2698260C>T	ENST00000324666.5	+	16	2925	c.2574C>T	c.(2572-2574)tcC>tcT	p.S858S	FAM193A_ENST00000502458.1_Silent_p.S880S|FAM193A_ENST00000382839.3_Silent_p.S858S|FAM193A_ENST00000545951.1_Silent_p.S858S|FAM193A_ENST00000505311.1_Silent_p.S858S	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	858								p.S858S(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TAAATAGCTCCGAAACCAAAC	0.512																																																1	Substitution - coding silent(1)	ovary(1)	4											101.0	95.0	97.0					4																	2698260		2203	4300	6503	2668058	SO:0001819	synonymous_variant	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2574C>T	4.37:g.2698260C>T		Somatic		Capture	Illumina GAIIx	4	2668058	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Silent	SNP	ENST00000324666.5	37	CCDS58875.1	SNP	23	WashU																																																																																				0.512	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		Silent
OR3A4P	390756	genome.wustl.edu	37	17	3214109	3214109	+	RNA	SNP	C	C	G	rs187221397		TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr17:3214109C>G	ENST00000573491.1	-	0	359																		p.L169V(1)									CCTGTCTCCTCTTAACTTCTG	0.537																																																1	Substitution - Missense(1)	ovary(1)	17											179.0	181.0	180.0					17																	3214109		2203	4300	6503	3160859			390756																															17.37:g.3214109C>G		Somatic		Capture	Illumina GAIIx	4	3160859		Missense_Mutation	SNP	ENST00000573491.1	37		SNP	32	WashU																																																																																				0.537	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1			Missense_Mutation
ADCY9	115	genome.wustl.edu	37	16	4057505	4057505	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr16:4057505C>A	ENST00000294016.3	-	3	2286	c.1748G>T	c.(1747-1749)tGt>tTt	p.C583F	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	583					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.C583F(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCCTCTGCACAGCTGCAGCG	0.527																																																1	Substitution - Missense(1)	ovary(1)	16											111.0	97.0	102.0					16																	4057505		2197	4300	6497	3997506	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1748G>T	16.37:g.4057505C>A	ENSP00000294016:p.Cys583Phe	Somatic		Capture	Illumina GAIIx	4	3997506	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	CCDS32382.1	SNP	17	WashU	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263090	0.80358	.	.	ENSG00000162104	ENST00000294016	D	0.83914	-1.78	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	L	0.44542	1.39	0.53005	D	0.999963	D	0.56035	0.974	P	0.54664	0.758	D	0.85835	0.1394	10	0.66056	D	0.02	.	15.3712	0.74568	0.0:1.0:0.0:0.0	.	583	O60503	ADCY9_HUMAN	F	583	ENSP00000294016:C583F	ENSP00000294016:C583F	C	-	2	0	ADCY9	3997506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.175000	0.58263	2.776000	0.95493	0.643000	0.83706	TGT		0.527	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			Missense_Mutation
BHLHE40	8553	genome.wustl.edu	37	3	5025108	5025108	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr3:5025108C>G	ENST00000256495.3	+	5	1573	c.970C>G	c.(970-972)Ccc>Gcc	p.P324A		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	324					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P324A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						TTTCTGCCTGCCCTTCTACCT	0.592																																																1	Substitution - Missense(1)	ovary(1)	3											170.0	129.0	143.0					3																	5025108		2203	4300	6503	5000108	SO:0001583	missense	8553			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.970C>G	3.37:g.5025108C>G	ENSP00000256495:p.Pro324Ala	Somatic		Capture	Illumina GAIIx	4	5000108	Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	CCDS2565.1	SNP	26	WashU	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662243	0.88251	.	.	ENSG00000134107	ENST00000256495	T	0.80214	-1.35	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.90277	0.6959	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91034	0.4866	10	0.87932	D	0	.	19.4173	0.94706	0.0:1.0:0.0:0.0	.	324	O14503	BHE40_HUMAN	A	324	ENSP00000256495:P324A	ENSP00000256495:P324A	P	+	1	0	BHLHE40	5000108	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.642000	0.83385	2.589000	0.87451	0.655000	0.94253	CCC		0.592	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		Missense_Mutation
CLDN7	1366	genome.wustl.edu	37	17	7164189	7164189	+	Silent	SNP	C	C	A			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr17:7164189C>A	ENST00000360325.7	-	2	773	c.339G>T	c.(337-339)gtG>gtT	p.V113V	CLDN7_ENST00000571881.2_Nonsense_Mutation_p.E105*|CLDN7_ENST00000573745.1_5'Flank|CLDN7_ENST00000397317.4_Silent_p.V113V|CLDN7_ENST00000538261.3_Silent_p.V113V|RP1-4G17.5_ENST00000577138.1_Intron	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	113					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.V113V(1)		kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						GGGCCTTCTTCACTTTGTCGT	0.612																																																1	Substitution - coding silent(1)	ovary(1)	17											130.0	107.0	114.0					17																	7164189		2203	4300	6503	7104913	SO:0001819	synonymous_variant	1366			AJ011497	CCDS11096.1, CCDS54081.1	17p13.1	2013-09-20			ENSG00000181885	ENSG00000181885		"""Claudins"""	2049	protein-coding gene	gene with protein product		609131		CEPTRL2, CPETRL2		9892664	Standard	NM_001307		Approved	Hs.84359	uc002gfm.4	O95471	OTTHUMG00000178005	ENST00000360325.7:c.339G>T	17.37:g.7164189C>A		Somatic		Capture	Illumina GAIIx	4	7104913	B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0	Silent	SNP	ENST00000360325.7	37	CCDS11096.1	SNP	29	WashU																																																																																				0.612	CLDN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440204.2	NM_001307		Silent
C19orf45	374877	genome.wustl.edu	37	19	7570999	7570999	+	Silent	SNP	G	G	A	rs148678708		TCGA-24-1469-01	TCGA-24-1469-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr19:7570999G>A	ENST00000361664.2	+	7	1296	c.1155G>A	c.(1153-1155)caG>caA	p.Q385Q	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	385								p.Q371Q(1)		endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GACAGGTGCAGAAAGCGCCCA	0.642																																																1	Substitution - coding silent(1)	ovary(1)	19											62.0	58.0	59.0					19																	7570999		2203	4300	6503	7476999	SO:0001819	synonymous_variant	374877			BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.1155G>A	19.37:g.7570999G>A		Somatic		Capture	Illumina GAIIx	4	7476999	Q8N115	Silent	SNP	ENST00000361664.2	37	CCDS12179.2	SNP	33	WashU																																																																																				0.642	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1	NM_198534		Silent
C19orf45	374877	genome.wustl.edu	37	19	7571020	7571020	+	Silent	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr19:7571020G>A	ENST00000361664.2	+	7	1317	c.1176G>A	c.(1174-1176)ttG>ttA	p.L392L	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	392								p.L378L(1)		endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						ACCTCCACTTGCAGCAAAGCT	0.672																																																1	Substitution - coding silent(1)	ovary(1)	19											45.0	43.0	44.0					19																	7571020		2203	4300	6503	7477020	SO:0001819	synonymous_variant	374877			BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.1176G>A	19.37:g.7571020G>A		Somatic		Capture	Illumina GAIIx	4	7477020	Q8N115	Silent	SNP	ENST00000361664.2	37	CCDS12179.2	SNP	46	WashU																																																																																				0.672	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1	NM_198534		Silent
TP53	7157	genome.wustl.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1469-01	TCGA-24-1469-10	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCCACTCGGATAAGATGCTG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	17											100.0	89.0	93.0					17																	7578265		2203	4300	6503	7518990	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr	Somatic		Capture	Illumina GAIIx	4	7518990	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	SNP	12	WashU	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
STXBP2	6813	genome.wustl.edu	37	19	7705910	7705910	+	Intron	SNP	G	G	T			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr19:7705910G>T	ENST00000221283.5	+	6	460				CTD-3214H19.4_ENST00000595866.1_Intron|STXBP2_ENST00000414284.2_Intron|STXBP2_ENST00000441779.2_Intron	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2						leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGCTCATCCTGGGCAGGGGGT	0.607																																																0			19											26.0	25.0	25.0					19																	7705910		2202	4300	6502	7611910	SO:0001627	intron_variant	6813			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.429+21G>T	19.37:g.7705910G>T		Somatic		Capture	Illumina GAIIx	4	7611910	B4E175|E7EQD5|Q9BU65	Silent	SNP	ENST00000221283.5	37	CCDS12181.1	SNP	47	WashU																																																																																				0.607	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		Silent
ENO1	2023	genome.wustl.edu	37	1	8926471	8926471	+	Silent	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr1:8926471G>A	ENST00000234590.4	-	7	653	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	178	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.F178F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGGCTTCCCTGAAGTTTGCTG	0.527																																					Esophageal Squamous(21;302 608 19946 22210 33560)											1	Substitution - coding silent(1)	ovary(1)	1											137.0	129.0	132.0					1																	8926471		2203	4300	6503	8849058	SO:0001819	synonymous_variant	2023			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.534C>T	1.37:g.8926471G>A		Somatic		Capture	Illumina GAIIx	4	8849058	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Silent	SNP	ENST00000234590.4	37	CCDS97.1	SNP	45	WashU																																																																																				0.527	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		Silent
MYH1	4619	genome.wustl.edu	37	17	10404973	10404973	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1469-01	TCGA-24-1469-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr17:10404973T>C	ENST00000226207.5	-	26	3380	c.3286A>G	c.(3286-3288)Agc>Ggc	p.S1096G	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1096					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S1096G(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCAATCTTGCTTTGCAGACCG	0.378																																																1	Substitution - Missense(1)	ovary(1)	17											114.0	107.0	109.0					17																	10404973		2203	4299	6502	10345698	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3286A>G	17.37:g.10404973T>C	ENSP00000226207:p.Ser1096Gly	Somatic		Capture	Illumina GAIIx	4	10345698	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	SNP	56	WashU	.	.	.	.	.	.	.	.	.	.	T	14.46	2.543061	0.45280	.	.	ENSG00000109061	ENST00000226207	T	0.78364	-1.17	5.51	4.42	0.53409	Myosin tail (1);	0.127524	0.34986	U	0.003537	T	0.69700	0.3140	L	0.42632	1.34	0.48901	D	0.999725	B	0.06786	0.001	B	0.04013	0.001	T	0.67726	-0.5596	10	0.48119	T	0.1	.	12.018	0.53326	0.0:0.0707:0.0:0.9292	.	1096	P12882	MYH1_HUMAN	G	1096	ENSP00000226207:S1096G	ENSP00000226207:S1096G	S	-	1	0	MYH1	10345698	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	2.105000	0.41825	2.221000	0.72209	0.528000	0.53228	AGC		0.378	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		Missense_Mutation
SYCP2L	221711	genome.wustl.edu	37	6	10898328	10898328	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr6:10898328G>C	ENST00000283141.6	+	5	717	c.421G>C	c.(421-423)Gat>Cat	p.D141H	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	141						nucleus (GO:0005634)		p.D141H(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TGTTATAGAAGATTTCTTTGA	0.433																																																1	Substitution - Missense(1)	ovary(1)	6											91.0	87.0	88.0					6																	10898328		1912	4130	6042	11006314	SO:0001583	missense	221711			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.421G>C	6.37:g.10898328G>C	ENSP00000283141:p.Asp141His	Somatic		Capture	Illumina GAIIx	4	11006314	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	CCDS43423.1	SNP	33	WashU	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954207	0.34471	.	.	ENSG00000153157	ENST00000283141	T	0.27557	1.66	5.36	4.49	0.54785	.	0.000000	0.64402	D	0.000001	T	0.43831	0.1265	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49753	-0.8906	10	0.62326	D	0.03	-20.816	8.6838	0.34225	0.0812:0.1538:0.765:0.0	.	141	Q5T4T6	SYC2L_HUMAN	H	141	ENSP00000283141:D141H	ENSP00000283141:D141H	D	+	1	0	SYCP2L	11006314	1.000000	0.71417	0.764000	0.31436	0.009000	0.06853	3.773000	0.55333	1.233000	0.43693	0.557000	0.71058	GAT		0.433	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		Missense_Mutation
GNAL	2774	genome.wustl.edu	37	18	11880995	11880995	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr18:11880995G>C	ENST00000423027.3	+	12	1328	c.1007G>C	c.(1006-1008)aGc>aCc	p.S336T	GNAL_ENST00000269162.5_Missense_Mutation_p.S336T|GNAL_ENST00000602628.1_Missense_Mutation_p.S129T|GNAL_ENST00000535121.1_Missense_Mutation_p.S336T|GNAL_ENST00000334049.6_Missense_Mutation_p.S413T			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	336					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.S413T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						CAGAGGATCAGCACGGCCACC	0.617																																																1	Substitution - Missense(1)	ovary(1)	18											89.0	63.0	72.0					18																	11880995		2203	4300	6503	11870995	SO:0001583	missense	2774			AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.1007G>C	18.37:g.11880995G>C	ENSP00000408489:p.Ser336Thr	Somatic		Capture	Illumina GAIIx	4	11870995	B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	CCDS11852.1	SNP	34	WashU	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005878	0.54254	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027;ENST00000535980	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.55	5.55	0.83447	.	0.288780	0.52532	D	0.000066	D	0.92522	0.7625	L	0.43923	1.385	0.80722	D	1	D;B	0.71674	0.998;0.286	D;B	0.71870	0.975;0.316	D	0.93078	0.6489	10	0.87932	D	0	.	19.4958	0.95072	0.0:0.0:1.0:0.0	.	336;413	P38405;Q86XU3	GNAL_HUMAN;.	T	275;413;336;336;336;129	ENSP00000334051:S413T;ENSP00000439023:S336T;ENSP00000269162:S336T;ENSP00000408489:S336T	ENSP00000269162:S336T	S	+	2	0	GNAL	11870995	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.788000	0.99064	2.591000	0.87537	0.563000	0.77884	AGC		0.617	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		Missense_Mutation
HSP90AB2P	391634	genome.wustl.edu	37	4	13339567	13339567	+	RNA	SNP	G	G	T			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr4:13339567G>T	ENST00000602906.1	+	0	918							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						TCACTGGTGAGAGCAAAGAGC	0.468																																																0			4																																								12948665						AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13339567G>T		Somatic		Capture	Illumina GAIIx	4	12948665		Missense_Mutation	SNP	ENST00000602906.1	37		SNP	33	WashU																																																																																				0.468	HSP90AB2P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359156.2			Missense_Mutation
PDXDC1	23042	genome.wustl.edu	37	16	15082524	15082524	+	Intron	SNP	C	C	T	rs551872456		TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr16:15082524C>T	ENST00000396410.4	+	2	118				PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000450288.2_Intron|PDXDC1_ENST00000569715.1_Intron|PDXDC1_ENST00000455313.2_Intron|PDXDC1_ENST00000563679.1_Intron|PDXDC1_ENST00000325823.7_Intron|PDXDC1_ENST00000535621.2_Intron	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1						carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTCGGCATCCGCCAGCACGG	0.617													c|||	1	0.000199681	0.0	0.0	5008	,	,		34312	0.0		0.001	False		,,,				2504	0.0															0			16																																								14990025	SO:0001627	intron_variant	728138			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.22-9086C>T	16.37:g.15082524C>T		Somatic		Capture	Illumina GAIIx	4	14990025	B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Silent	SNP	ENST00000396410.4	37	CCDS32393.1	SNP	23	WashU																																																																																				0.617	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		Silent
ASB11	140456	genome.wustl.edu	37	X	15306080	15306080	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01	TCGA-24-1469-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chrX:15306080C>G	ENST00000480796.1	-	6	820	c.770G>C	c.(769-771)aGa>aCa	p.R257T	ASB11_ENST00000537676.1_Missense_Mutation_p.R236T|ASB11_ENST00000344384.4_Missense_Mutation_p.R236T|ASB11_ENST00000380470.3_Missense_Mutation_p.R240T			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	257					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.R257T(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					CTGAGCATTTCTACGCTTCAG	0.567																																																1	Substitution - Missense(1)	ovary(1)	X											134.0	106.0	116.0					X																	15306080		2203	4300	6503	15216001	SO:0001583	missense	140456			AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"""Ankyrin repeat domain containing"""	17186	protein-coding gene	gene with protein product		300626	"""ankyrin repeat and SOCS box-containing 11"", ""ankyrin repeat and SOCS box containing 11"""			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.770G>C	X.37:g.15306080C>G	ENSP00000417914:p.Arg257Thr	Somatic		Capture	Illumina GAIIx	4	15216001	E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	CCDS14164.1	SNP	32	WashU	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100672	0.56183	.	.	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.44	2.15	0.27550	Ankyrin repeat-containing domain (4);	0.320743	0.29638	N	0.011586	T	0.53867	0.1823	L	0.55017	1.72	0.27758	N	0.943939	B;B;B	0.31459	0.101;0.117;0.324	B;B;B	0.38020	0.263;0.112;0.112	T	0.43621	-0.9380	10	0.25106	T	0.35	-6.9039	5.8791	0.18846	0.145:0.5907:0.0:0.2643	.	240;257;236	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	T	236;240;236;257	ENSP00000445465:R236T;ENSP00000369837:R240T;ENSP00000343408:R236T;ENSP00000417914:R257T	ENSP00000343408:R236T	R	-	2	0	ASB11	15216001	0.968000	0.33430	0.137000	0.22149	0.925000	0.55904	1.494000	0.35616	0.422000	0.26005	0.523000	0.50628	AGA		0.567	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2			Missense_Mutation
SPEN	23013	genome.wustl.edu	37	1	16203044	16203044	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr1:16203044G>C	ENST00000375759.3	+	3	956	c.752G>C	c.(751-753)aGa>aCa	p.R251T	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	251	Arg-rich.|Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R251T(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCCCAGTCTAGAAATCAGTCT	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											53.0	51.0	52.0					1																	16203044		2203	4300	6503	16075631	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.752G>C	1.37:g.16203044G>C	ENSP00000364912:p.Arg251Thr	Somatic		Capture	Illumina GAIIx	4	16075631	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	SNP	33	WashU	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052626	0.55218	.	.	ENSG00000065526	ENST00000375759;ENST00000438066;ENST00000375753	T;T	0.35421	2.83;1.31	5.78	5.78	0.91487	.	.	.	.	.	T	0.49184	0.1542	L	0.27053	0.805	0.53005	D	0.999962	D	0.89917	1.0	D	0.66716	0.946	T	0.46345	-0.9198	9	0.54805	T	0.06	-22.9064	20.0118	0.97458	0.0:0.0:1.0:0.0	.	251	Q96T58	MINT_HUMAN	T	251;210;210	ENSP00000364912:R251T;ENSP00000388021:R210T	ENSP00000364906:R210T	R	+	2	0	SPEN	16075631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.011000	0.76359	2.744000	0.94065	0.563000	0.77884	AGA		0.527	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		Missense_Mutation
DGCR14	8220	genome.wustl.edu	37	22	19127498	19127498	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01	TCGA-24-1469-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr22:19127498C>A	ENST00000252137.6	-	4	483	c.440G>T	c.(439-441)aGc>aTc	p.S147I		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	147					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)		p.S147I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GACATCTAGGCTGGGCAGCGG	0.607																																																1	Substitution - Missense(1)	ovary(1)	22											106.0	105.0	105.0					22																	19127498		2203	4300	6503	17507498	SO:0001583	missense	8220			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.440G>T	22.37:g.19127498C>A	ENSP00000252137:p.Ser147Ile	Somatic		Capture	Illumina GAIIx	4	17507498	Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	CCDS13756.1	SNP	28	WashU	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814779	0.50527	.	.	ENSG00000100056	ENST00000252137	T	0.55760	0.5	5.08	4.06	0.47325	.	0.393919	0.33272	N	0.005095	T	0.67050	0.2852	M	0.82323	2.585	0.41028	D	0.98513	D	0.60575	0.988	P	0.53988	0.739	T	0.74621	-0.3604	10	0.72032	D	0.01	-17.2531	13.476	0.61308	0.0:0.9236:0.0:0.0764	.	147	Q96DF8	DGC14_HUMAN	I	147	ENSP00000252137:S147I	ENSP00000252137:S147I	S	-	2	0	DGCR14	17507498	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	1.804000	0.38873	1.370000	0.46153	-0.150000	0.13652	AGC		0.607	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			Missense_Mutation
MSGN1	343930	genome.wustl.edu	37	2	17998044	17998044	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr2:17998044G>A	ENST00000281047.3	+	1	282	c.259G>A	c.(259-261)Gcc>Acc	p.A87T		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	87					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.A87T(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTCGGTGGGGCCAGTGGCCT	0.632																																					Melanoma(127;325 1712 14802 40657 49130)											1	Substitution - Missense(1)	ovary(1)	2											38.0	44.0	42.0					2																	17998044		1983	4149	6132	17861525	SO:0001583	missense	343930				CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.259G>A	2.37:g.17998044G>A	ENSP00000281047:p.Ala87Thr	Somatic		Capture	Illumina GAIIx	4	17861525		Missense_Mutation	SNP	ENST00000281047.3	37	CCDS42657.1	SNP	42	WashU	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.998323	0.00435	.	.	ENSG00000151379	ENST00000281047	T	0.17528	2.27	4.28	-8.55	0.00908	.	1.287910	0.05503	N	0.558841	T	0.05547	0.0146	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32241	-0.9914	10	0.10902	T	0.67	-9.5537	4.1904	0.10417	0.3799:0.3718:0.1656:0.0828	.	87	A6NI15	MSGN1_HUMAN	T	87	ENSP00000281047:A87T	ENSP00000281047:A87T	A	+	1	0	MSGN1	17861525	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-3.745000	0.00377	-1.813000	0.01226	-0.808000	0.03180	GCC		0.632	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		Missense_Mutation
TERF1P5	283523	genome.wustl.edu	37	13	19255787	19255787	+	IGR	SNP	A	A	T			TCGA-24-1469-01	TCGA-24-1469-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr13:19255787A>T								LINC00387 (5484 upstream) : LINC00418 (37119 downstream)																							TGTCATGTTAAAAGACAGATG	0.373																																																0			13																																								18153787	SO:0001628	intergenic_variant	283523																															13.37:g.19255787A>T		Somatic		Capture	Illumina GAIIx	4	18153787		Nonsense_Mutation	SNP		37		SNP	1	WashU																																																																																			0	0.373									Nonsense_Mutation
CACNB2	783	genome.wustl.edu	37	10	18787463	18787463	+	Intron	SNP	T	T	A			TCGA-24-1469-01	TCGA-24-1469-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr10:18787463T>A	ENST00000324631.7	+	4	516				CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000377329.4_Intron|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377315.4_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000396576.2_Intron	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACATACCATTTCTTATTTCCT	0.368																																																0			10																																								18827469	SO:0001627	intron_variant	783			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.456+57T>A	10.37:g.18787463T>A		Somatic		Capture	Illumina GAIIx	4	18827469	A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	CCDS7125.1	SNP	62	WashU																																																																																				0.368	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		Missense_Mutation
UBR4	23352	genome.wustl.edu	37	1	19442123	19442123	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01	TCGA-24-1469-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr1:19442123C>A	ENST00000375254.3	-	74	10859	c.10832G>T	c.(10831-10833)cGc>cTc	p.R3611L	UBR4_ENST00000375217.2_Missense_Mutation_p.R3604L|UBR4_ENST00000375226.2_Missense_Mutation_p.R3587L|UBR4_ENST00000375267.2_Missense_Mutation_p.R3611L|UBR4_ENST00000375218.3_Missense_Mutation_p.R26L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3611					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R3611L(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTTGTGCCAGCGAGCTGGCCT	0.483																																																1	Substitution - Missense(1)	ovary(1)	1											110.0	110.0	110.0					1																	19442123		2203	4300	6503	19314710	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10832G>T	1.37:g.19442123C>A	ENSP00000364403:p.Arg3611Leu	Somatic		Capture	Illumina GAIIx	4	19314710	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	SNP	27	WashU	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580552	0.28180	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375218	T;T;T;T	0.18016	2.24;2.24;2.25;2.24	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.10380	0.0254	N	0.00289	-1.7	0.80722	D	1	B;D	0.60160	0.001;0.987	B;D	0.67725	0.001;0.953	T	0.48479	-0.9032	10	0.02654	T	1	.	18.7215	0.91697	0.0:1.0:0.0:0.0	.	26;3611	Q5T4S7-6;Q5T4S7	.;UBR4_HUMAN	L	3611;3611;3604;3587;26	ENSP00000364403:R3611L;ENSP00000364416:R3611L;ENSP00000364365:R3604L;ENSP00000364374:R3587L	ENSP00000364365:R3604L	R	-	2	0	UBR4	19314710	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.466000	0.80914	2.767000	0.95098	0.655000	0.94253	CGC		0.483	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		Missense_Mutation
EMC1	23065	genome.wustl.edu	37	1	19566406	19566406	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr1:19566406G>A	ENST00000477853.1	-	8	902	c.860C>T	c.(859-861)tCc>tTc	p.S287F	EMC1_ENST00000375199.3_Missense_Mutation_p.S287F|EMC1_ENST00000375208.3_Missense_Mutation_p.S265F|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	287						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)		p.S287F(1)									CTGGGCCCGGGAAGCGTCCAC	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											54.0	57.0	56.0					1																	19566406		2203	4300	6503	19438993	SO:0001583	missense	23065				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.860C>T	1.37:g.19566406G>A	ENSP00000420608:p.Ser287Phe	Somatic		Capture	Illumina GAIIx	4	19438993	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	CCDS190.1	SNP	41	WashU	.	.	.	.	.	.	.	.	.	.	G	24.7	4.554878	0.86231	.	.	ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208	T;T;T	0.26660	1.74;1.74;1.72	5.72	5.72	0.89469	.	0.213240	0.50627	D	0.000104	T	0.42966	0.1226	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.63880	0.986;0.986;0.993;0.989	P;P;D;P	0.63113	0.814;0.814;0.911;0.817	T	0.07849	-1.0751	9	.	.	.	.	14.1155	0.65151	0.0:0.1503:0.8497:0.0	.	265;287;287;287	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.;.;.;K0090_HUMAN	F	287;287;265	ENSP00000420608:S287F;ENSP00000364345:S287F;ENSP00000364354:S265F	.	S	-	2	0	KIAA0090	19438993	1.000000	0.71417	0.996000	0.52242	0.860000	0.49131	7.211000	0.77933	2.691000	0.91804	0.655000	0.94253	TCC		0.527	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		Missense_Mutation
OR4N4	283694	genome.wustl.edu	37	15	22382870	22382870	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr15:22382870C>A	ENST00000328795.4	+	1	489	c.398C>A	c.(397-399)tCa>tAa	p.S133*	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S133*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGCACTGTTCAACTGTCATG	0.532																																																1	Substitution - Nonsense(1)	ovary(1)	15											197.0	171.0	179.0					15																	22382870		2189	4262	6451	19884234	SO:0001587	stop_gained	283694			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.398C>A	15.37:g.22382870C>A	ENSP00000332500:p.Ser133*	Somatic		Capture	Illumina GAIIx	4	19884234	Q6IEY3|Q6IF56	Nonsense_Mutation	SNP	ENST00000328795.4	37	CCDS32173.1	SNP	29	WashU	.	.	.	.	.	.	.	.	.	.	.	10.89	1.479402	0.26511	.	.	ENSG00000183706	ENST00000328795	.	.	.	3.2	2.27	0.28462	.	0.360086	0.20474	N	0.091635	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-4.5245	4.9093	0.13814	0.2022:0.6772:0.0:0.1205	.	.	.	.	X	133	.	ENSP00000332500:S133X	S	+	2	0	OR4N4	19884234	0.000000	0.05858	0.104000	0.21259	0.021000	0.10359	-0.839000	0.04368	0.590000	0.29694	-1.109000	0.02080	TCA		0.532	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			Nonsense_Mutation
METTL17	64745	genome.wustl.edu	37	14	21464691	21464691	+	Silent	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr14:21464691G>A	ENST00000339374.6	+	13	1319	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000382985.4_Silent_p.K362K|METTL17_ENST00000556670.2_Silent_p.K362K|SLC39A2_ENST00000298681.4_5'Flank|SLC39A2_ENST00000554422.1_5'Flank	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	362					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)	p.K362K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CTTAGAACAAGAAACCAAAGG	0.453																																																1	Substitution - coding silent(1)	ovary(1)	14											48.0	48.0	48.0					14																	21464691		2203	4300	6503	20534531	SO:0001819	synonymous_variant	64745			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1086G>A	14.37:g.21464691G>A		Somatic		Capture	Illumina GAIIx	4	20534531	Q9BSH1|Q9BZH2|Q9BZH3	Silent	SNP	ENST00000339374.6	37	CCDS9562.1	SNP	33	WashU	.	.	.	.	.	.	.	.	.	.	G	9.116	1.007796	0.19199	.	.	ENSG00000165792	ENST00000556733	.	.	.	4.59	3.62	0.41486	.	.	.	.	.	T	0.57961	0.2089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54569	-0.8274	4	.	.	.	.	8.9689	0.35894	0.0:0.0:0.7622:0.2378	.	.	.	.	K	38	.	.	E	+	1	0	METTL17	20534531	0.975000	0.34042	1.000000	0.80357	0.992000	0.81027	0.835000	0.27531	2.392000	0.81423	0.655000	0.94253	GAA		0.453	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		Silent
SLC17A6	57084	genome.wustl.edu	37	11	22380992	22380993	+	Silent	DNP	CC	CC	AT			TCGA-24-1469-01	TCGA-24-1469-10	CC	CC	CC	AT	CC	CC	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr11:22380992_22380993CC>AT	ENST00000263160.3	+	4	929_930	c.492_493CC>AT	c.(490-495)acCCta>acATta	p.164_165TL>TL	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	164					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTACCTCTACCCTAAATATGCT	0.376																																																0			11																																								22337569	SO:0001819	synonymous_variant	57084			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	Exception_encountered	11.37:g.22380992_22380993delinsAT		Somatic		Capture	Illumina GAIIx	4	22337568	A6NKS2	Missense	DNP	ENST00000263160.3	37	CCDS7856.1	DNP	22	WashU																																																																																				0.376	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		Missense
SACS	26278	genome.wustl.edu	37	13	23913133	23913133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr13:23913133G>A	ENST00000382292.3	-	9	5155	c.4882C>T	c.(4882-4884)Cag>Tag	p.Q1628*	SACS_ENST00000402364.1_Nonsense_Mutation_p.Q878*|SACS_ENST00000382298.3_Nonsense_Mutation_p.Q1628*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1628					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.Q1481*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAAGGTAACTGACAGCCAAAT	0.363																																																1	Substitution - Nonsense(1)	ovary(1)	13											115.0	110.0	112.0					13																	23913133		2203	4299	6502	22811133	SO:0001587	stop_gained	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4882C>T	13.37:g.23913133G>A	ENSP00000371729:p.Gln1628*	Somatic		Capture	Illumina GAIIx	4	22811133	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	SNP	45	WashU	.	.	.	.	.	.	.	.	.	.	G	54	22.072886	0.99945	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.84	5.84	0.93424	.	0.121317	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	.	.	.	X	1628;878;1628	.	ENSP00000371729:Q1628X	Q	-	1	0	SACS	22811133	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	6.211000	0.72182	2.760000	0.94817	0.655000	0.94253	CAG		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		Nonsense_Mutation
IGF2BP3	10643	genome.wustl.edu	37	7	23383391	23383391	+	Silent	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr7:23383391C>T	ENST00000258729.3	-	9	1379	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	341	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)	p.E341E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TCATGATCTCCTCCTCAGCTT	0.353																																																1	Substitution - coding silent(1)	ovary(1)	7											151.0	133.0	139.0					7																	23383391		2203	4300	6503	23349916	SO:0001819	synonymous_variant	10643			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.1023G>A	7.37:g.23383391C>T		Somatic		Capture	Illumina GAIIx	4	23349916	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	CCDS5382.1	SNP	24	WashU																																																																																				0.353	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		Silent
ZNF725P	100128853	genome.wustl.edu	37	19	23675682	23675682	+	IGR	SNP	C	C	A			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr19:23675682C>A								CTB-175P5.4 (84789 upstream) : ZNF675 (32750 downstream)																							CATACATATGCTTTGCCACAT	0.393																																																0			19																																								23467522	SO:0001628	intergenic_variant																																19.37:g.23675682C>A		Somatic		Capture	Illumina GAIIx	4	23467522		Missense_Mutation	SNP		37		SNP	28	WashU																																																																																			0	0.393									Missense_Mutation
PIWIL3	440822	genome.wustl.edu	37	22	25158369	25158369	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr22:25158369G>C	ENST00000332271.5	-	2	514	c.98C>G	c.(97-99)gCt>gGt	p.A33G	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000527701.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	33					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.A33G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GCTCACTGTAGCTGATCCAGG	0.542																																																1	Substitution - Missense(1)	ovary(1)	22											98.0	84.0	89.0					22																	25158369		2203	4300	6503	23488369	SO:0001583	missense	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.98C>G	22.37:g.25158369G>C	ENSP00000330031:p.Ala33Gly	Somatic		Capture	Illumina GAIIx	4	23488369		Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	SNP	34	WashU	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640341	0.29157	.	.	ENSG00000184571	ENST00000332271	T	0.04406	3.63	2.17	2.17	0.27698	.	.	.	.	.	T	0.04137	0.0115	L	0.50333	1.59	0.23831	N	0.99672	P;P	0.40731	0.728;0.728	B;B	0.36289	0.221;0.221	T	0.16041	-1.0416	9	0.06757	T	0.87	.	7.9009	0.29734	0.0:0.0:1.0:0.0	.	33;33	B4DYF7;Q7Z3Z3	.;PIWL3_HUMAN	G	33	ENSP00000330031:A33G	ENSP00000330031:A33G	A	-	2	0	PIWIL3	23488369	0.000000	0.05858	0.002000	0.10522	0.042000	0.13812	-0.999000	0.03697	1.548000	0.49413	0.462000	0.41574	GCT		0.542	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		Missense_Mutation
NINL	22981	genome.wustl.edu	37	20	25484690	25484690	+	Silent	SNP	C	C	A			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr20:25484690C>A	ENST00000278886.6	-	7	832	c.759G>T	c.(757-759)gtG>gtT	p.V253V	NINL_ENST00000422516.1_Silent_p.V253V	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	253	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.V253V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCTCAAGACTCACTTTGCCGT	0.507																																																1	Substitution - coding silent(1)	ovary(1)	20											177.0	161.0	166.0					20																	25484690		2203	4300	6503	25432690	SO:0001819	synonymous_variant	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.759G>T	20.37:g.25484690C>A		Somatic		Capture	Illumina GAIIx	4	25432690	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	CCDS33452.1	SNP	29	WashU																																																																																				0.507	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		Silent
HERC2	8924	genome.wustl.edu	37	15	28459291	28459291	+	Silent	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr15:28459291G>A	ENST00000261609.7	-	41	6594	c.6486C>T	c.(6484-6486)ctC>ctT	p.L2162L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.L2162L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACTTGTTGATGAGCCCATTCC	0.582																																																1	Substitution - coding silent(1)	ovary(1)	15											64.0	61.0	62.0					15																	28459291		2203	4296	6499	26132886	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6486C>T	15.37:g.28459291G>A		Somatic		Capture	Illumina GAIIx	4	26132886		Silent	SNP	ENST00000261609.7	37	CCDS10021.1	SNP	45	WashU																																																																																				0.582	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		Silent
DSG2	1829	genome.wustl.edu	37	18	29116349	29116349	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1469-01	TCGA-24-1469-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr18:29116349A>T	ENST00000261590.8	+	11	1817	c.1608A>T	c.(1606-1608)aaA>aaT	p.K536N		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	536					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K536N(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCATTGACAAACCACCTGGCA	0.413																																																1	Substitution - Missense(1)	ovary(1)	18											65.0	64.0	64.0					18																	29116349		1907	4136	6043	27370347	SO:0001583	missense	1829			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1608A>T	18.37:g.29116349A>T	ENSP00000261590:p.Lys536Asn	Somatic		Capture	Illumina GAIIx	4	27370347	Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	CCDS42423.1	SNP	2	WashU	.	.	.	.	.	.	.	.	.	.	A	12.46	1.946080	0.34377	.	.	ENSG00000046604	ENST00000261590	T	0.60299	0.2	5.89	-6.08	0.02151	.	0.642460	0.15013	N	0.285447	T	0.26846	0.0657	N	0.11560	0.145	0.41138	D	0.985939	P	0.34462	0.454	B	0.27380	0.079	T	0.02721	-1.1119	10	0.54805	T	0.06	.	7.5287	0.27671	0.2577:0.1054:0.5338:0.1031	.	536	Q14126	DSG2_HUMAN	N	536	ENSP00000261590:K536N	ENSP00000261590:K536N	K	+	3	2	DSG2	27370347	0.165000	0.22948	0.004000	0.12327	0.292000	0.27327	-0.121000	0.10643	-1.009000	0.03400	-0.250000	0.11733	AAA		0.413	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		Missense_Mutation
HIST1H2BO	8348	genome.wustl.edu	37	6	27861346	27861346	+	Missense_Mutation	SNP	G	G	A	rs114740219		TCGA-24-1469-01	TCGA-24-1469-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr6:27861346G>A	ENST00000303806.4	+	1	144	c.106G>A	c.(106-108)Gag>Aag	p.E36K	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	36					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E36K(1)									CAGCCGCAAAGAGAGTTACTC	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18111	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	6											138.0	128.0	132.0					6																	27861346		2203	4300	6503	27969325	SO:0001583	missense	8348			X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"""Histones / Replication-dependent"""	4758	protein-coding gene	gene with protein product		602808	"""H2B histone family, member N"", ""histone 1, H2bo"""	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.106G>A	6.37:g.27861346G>A	ENSP00000303408:p.Glu36Lys	Somatic		Capture	Illumina GAIIx	4	27969325	Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	CCDS4640.1	SNP	33	WashU	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	28.9	4.956126	0.92726	.	.	ENSG00000196331	ENST00000303806	T	0.22743	1.94	3.55	3.55	0.40652	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.42471	0.1204	M	0.91354	3.2	0.45502	D	0.998467	D	0.69078	0.997	P	0.60173	0.87	T	0.57406	-0.7817	9	0.72032	D	0.01	.	14.9186	0.70818	0.0:0.0:1.0:0.0	.	36	P23527	H2B1O_HUMAN	K	36	ENSP00000303408:E36K	ENSP00000303408:E36K	E	+	1	0	HIST1H2BO	27969325	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	8.954000	0.93051	2.275000	0.75901	0.561000	0.74099	GAG		0.547	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		Missense_Mutation
PGBD1	84547	genome.wustl.edu	37	6	28269716	28269716	+	Silent	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr6:28269716C>T	ENST00000405948.2	+	7	2505	c.2085C>T	c.(2083-2085)atC>atT	p.I695I	PGBD1_ENST00000259883.3_Silent_p.I695I	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	695						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I695I(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATGGCATTATCAGTCTGTGCT	0.388																																																1	Substitution - coding silent(1)	ovary(1)	6											179.0	175.0	177.0					6																	28269716		2203	4300	6503	28377695	SO:0001819	synonymous_variant	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.2085C>T	6.37:g.28269716C>T		Somatic		Capture	Illumina GAIIx	4	28377695	Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	CCDS4648.1	SNP	29	WashU																																																																																				0.388	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			Silent
B3GALTL	145173	genome.wustl.edu	37	13	31860859	31860859	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr13:31860859C>T	ENST00000343307.4	+	12	1116	c.967C>T	c.(967-969)Cat>Tat	p.H323Y		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	323					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.H323Y(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TTTTCTAGGTCATTGTGGAAA	0.299																																																1	Substitution - Missense(1)	ovary(1)	13											88.0	84.0	86.0					13																	31860859		2203	4300	6503	30758859	SO:0001583	missense	145173			AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.967C>T	13.37:g.31860859C>T	ENSP00000343002:p.His323Tyr	Somatic		Capture	Illumina GAIIx	4	30758859	A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	ENST00000343307.4	37	CCDS9341.1	SNP	29	WashU	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159274	0.78226	.	.	ENSG00000187676	ENST00000343307	T	0.68025	-0.3	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.83700	0.5311	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84042	0.0365	10	0.41790	T	0.15	-21.5555	18.0133	0.89231	0.0:1.0:0.0:0.0	.	323	Q6Y288	B3GLT_HUMAN	Y	323	ENSP00000343002:H323Y	ENSP00000343002:H323Y	H	+	1	0	B3GALTL	30758859	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.064000	0.71169	2.535000	0.85469	0.655000	0.94253	CAT		0.299	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		Missense_Mutation
FBXO7	25793	genome.wustl.edu	37	22	32881059	32881059	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr22:32881059C>T	ENST00000266087.7	+	4	977	c.650C>T	c.(649-651)aCc>aTc	p.T217I	FBXO7_ENST00000397426.1_Missense_Mutation_p.T103I|FBXO7_ENST00000382058.3_Missense_Mutation_p.T138I	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	217	Important for dimerization and interaction with PSMF1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.T217I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCCAGGGCACCGAAGCCAAA	0.453																																																1	Substitution - Missense(1)	ovary(1)	22											108.0	98.0	101.0					22																	32881059		2203	4300	6503	31211059	SO:0001583	missense	25793			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.650C>T	22.37:g.32881059C>T	ENSP00000266087:p.Thr217Ile	Somatic		Capture	Illumina GAIIx	4	31211059	B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	CCDS13907.1	SNP	18	WashU	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444890	0.43429	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.47177	0.85;0.85;0.85	5.56	5.56	0.83823	.	0.397716	0.31636	N	0.007303	T	0.49898	0.1584	M	0.76838	2.35	0.34592	D	0.715642	B;B;P	0.34977	0.065;0.095;0.478	B;B;B	0.32762	0.055;0.094;0.152	T	0.63945	-0.6522	10	0.40728	T	0.16	-16.1797	15.0422	0.71799	0.0:0.9298:0.0:0.0702	.	138;217;103	Q9Y3I1-2;Q9Y3I1;Q5TI86	.;FBX7_HUMAN;.	I	217;138;103	ENSP00000266087:T217I;ENSP00000371490:T138I;ENSP00000380571:T103I	ENSP00000266087:T217I	T	+	2	0	FBXO7	31211059	0.992000	0.36948	0.849000	0.33467	0.584000	0.36387	3.200000	0.51051	2.777000	0.95525	0.655000	0.94253	ACC		0.453	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			Missense_Mutation
PUM1	9698	genome.wustl.edu	37	1	31438946	31438946	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1469-01	TCGA-24-1469-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr1:31438946T>C	ENST00000257075.5	-	13	2062	c.1969A>G	c.(1969-1971)Agc>Ggc	p.S657G	SNORD85_ENST00000363311.1_RNA|PUM1_ENST00000440538.2_Missense_Mutation_p.S631G|PUM1_ENST00000490546.1_5'Flank|PUM1_ENST00000424085.2_Missense_Mutation_p.S415G|PUM1_ENST00000373747.3_Missense_Mutation_p.S658G|PUM1_ENST00000373742.2_Missense_Mutation_p.S598G|PUM1_ENST00000423018.2_Missense_Mutation_p.S513G|PUM1_ENST00000373741.4_Missense_Mutation_p.S693G|PUM1_ENST00000426105.2_Missense_Mutation_p.S657G	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	657	Ser-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.S657G(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AGGGAGCTGCTCTGTGAATTG	0.587																																																1	Substitution - Missense(1)	ovary(1)	1											138.0	134.0	135.0					1																	31438946		2203	4300	6503	31211533	SO:0001583	missense	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1969A>G	1.37:g.31438946T>C	ENSP00000257075:p.Ser657Gly	Somatic		Capture	Illumina GAIIx	4	31211533	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	CCDS338.1	SNP	54	WashU	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.43|15.43	2.830567|2.830567	0.50845|0.50845	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000525843;ENST00000498419|ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742	.|T;T;T;T;T;T;T;T	.|0.20598	.|2.14;2.06;2.34;2.33;2.48;2.32;2.44;2.1	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.21881|0.21881	0.0527|0.0527	L|L	0.43152|0.43152	1.355|1.355	0.58432|0.58432	D|D	0.999999|0.999999	.|P;B;P;B;P;P;P;P	.|0.49862	.|0.929;0.034;0.929;0.058;0.82;0.82;0.82;0.82	.|B;B;B;B;B;B;B;B	.|0.42062	.|0.374;0.016;0.374;0.037;0.254;0.254;0.254;0.254	T|T	0.01252|0.01252	-1.1405|-1.1405	5|10	.|0.33141	.|T	.|0.24	-9.9348|-9.9348	16.4237|16.4237	0.83790|0.83790	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|598;513;693;631;657;657;658;657	.|B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.|.;.;.;.;PUM1_HUMAN;.;.;.	G|G	674;368|415;657;658;395;657;631;693;513;598	.|ENSP00000400141:S415G;ENSP00000257075:S657G;ENSP00000362852:S658G;ENSP00000391723:S657G;ENSP00000401777:S631G;ENSP00000362846:S693G;ENSP00000399440:S513G;ENSP00000362847:S598G	.|ENSP00000257075:S657G	E|S	-|-	2|1	0|0	PUM1|PUM1	31211533|31211533	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.289000|6.289000	0.72696|0.72696	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	GAG|AGC		0.587	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			Missense_Mutation
DNM1L	10059	genome.wustl.edu	37	12	32884406	32884406	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr12:32884406G>T	ENST00000549701.1	+	11	1391	c.1317G>T	c.(1315-1317)atG>atT	p.M439I	DNM1L_ENST00000414834.2_Missense_Mutation_p.M236I|DNM1L_ENST00000381000.4_Missense_Mutation_p.M452I|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000358214.5_Missense_Mutation_p.M452I|DNM1L_ENST00000547312.1_Missense_Mutation_p.M439I|DNM1L_ENST00000452533.2_Missense_Mutation_p.M439I|DNM1L_ENST00000266481.6_Missense_Mutation_p.M439I|DNM1L_ENST00000553257.1_Missense_Mutation_p.M452I			O00429	DNM1L_HUMAN	dynamin 1-like	439	Middle domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.M439I(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATGAGGAAATGCAAAGGATCA	0.438																																																1	Substitution - Missense(1)	ovary(1)	12											113.0	110.0	111.0					12																	32884406		2203	4300	6503	32775673	SO:0001583	missense	10059			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1317G>T	12.37:g.32884406G>T	ENSP00000450399:p.Met439Ile	Somatic		Capture	Illumina GAIIx	4	32775673	A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	37	CCDS8729.1	SNP	46	WashU	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342775	0.82022	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	T;T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.14	3.25	0.37280	Dynamin central domain (1);	0.077496	0.85682	D	0.000000	T	0.69260	0.3091	L	0.39147	1.195	0.80722	D	1	P;P;P;P;P;P	0.52316	0.788;0.763;0.952;0.753;0.873;0.952	P;P;P;P;P;P	0.52957	0.577;0.507;0.714;0.511;0.588;0.714	T	0.71457	-0.4587	10	0.87932	D	0	.	9.9323	0.41530	0.0725:0.0:0.7897:0.1379	.	236;492;492;505;492;439	B4DGC9;D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;.;DNM1L_HUMAN	I	439;505;439;452;439;452;439;439;236;452	ENSP00000415131:M439I;ENSP00000449089:M452I;ENSP00000450399:M439I;ENSP00000350948:M452I;ENSP00000266481:M439I;ENSP00000448610:M439I;ENSP00000404160:M236I;ENSP00000370388:M452I	ENSP00000266479:M439I	M	+	3	0	DNM1L	32775673	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.695000	0.84257	1.172000	0.42781	0.650000	0.86243	ATG		0.438	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		Missense_Mutation
RBM12	10137	genome.wustl.edu	37	20	34242062	34242062	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1469-01	TCGA-24-1469-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr20:34242062T>C	ENST00000374114.3	-	3	1446	c.1183A>G	c.(1183-1185)Atg>Gtg	p.M395V	CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317677.5_5'Flank|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.M395V|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.M395V	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	395						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.M395V(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GAAGGTCCCATATTTTGCTTA	0.488											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				1	Substitution - Missense(1)	ovary(1)	20											150.0	144.0	146.0					20																	34242062		2203	4300	6503	33705476	SO:0001583	missense	10137			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1183A>G	20.37:g.34242062T>C	ENSP00000363228:p.Met395Val	Somatic	846	Capture	Illumina GAIIx	4	33705476	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	CCDS13261.1	SNP	49	WashU	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.764562	0.00651	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.13307	2.6;2.6;2.6	4.77	3.66	0.41972	.	0.558134	0.18494	N	0.139551	T	0.05044	0.0135	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	10	0.02654	T	1	0.3122	5.7515	0.18150	0.1493:0.0779:0.0:0.7728	.	395	Q9NTZ6	RBM12_HUMAN	V	395;395;395;194	ENSP00000363228:M395V;ENSP00000352668:M395V;ENSP00000363217:M395V	ENSP00000339879:M194V	M	-	1	0	RBM12	33705476	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.677000	0.37576	0.849000	0.35215	0.449000	0.29647	ATG		0.488	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		Missense_Mutation
GJB4	127534	genome.wustl.edu	37	1	35227580	35227580	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1469-01	TCGA-24-1469-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr1:35227580G>T	ENST00000339480.1	+	2	1095	c.725G>T	c.(724-726)gGa>gTa	p.G242V	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	242					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.G242V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTCTCCCAGGGAGGGCACCCT	0.612																																																1	Substitution - Missense(1)	ovary(1)	1											44.0	38.0	40.0					1																	35227580		2203	4300	6503	35000167	SO:0001583	missense	127534				CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.725G>T	1.37:g.35227580G>T	ENSP00000345868:p.Gly242Val	Somatic		Capture	Illumina GAIIx	4	35000167	B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	37	CCDS383.1	SNP	41	WashU	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256000	0.59321	.	.	ENSG00000189433	ENST00000339480	D	0.97688	-4.49	5.56	-1.36	0.09085	.	1.121710	0.06572	N	0.748735	D	0.92971	0.7763	L	0.29908	0.895	0.18873	N	0.999985	B	0.10296	0.003	B	0.09377	0.004	D	0.84626	0.0687	10	0.23302	T	0.38	.	3.3157	0.07032	0.2377:0.1554:0.5073:0.0996	.	242	Q9NTQ9	CXB4_HUMAN	V	242	ENSP00000345868:G242V	ENSP00000345868:G242V	G	+	2	0	GJB4	35000167	0.001000	0.12720	0.009000	0.14445	0.834000	0.47266	-0.081000	0.11321	0.110000	0.17919	0.561000	0.74099	GGA		0.612	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		Missense_Mutation
CTNNBL1	56259	genome.wustl.edu	37	20	36470759	36470759	+	Silent	SNP	T	T	C			TCGA-24-1469-01	TCGA-24-1469-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr20:36470759T>C	ENST00000361383.6	+	13	1447	c.1330T>C	c.(1330-1332)Ttg>Ctg	p.L444L	CTNNBL1_ENST00000373473.1_Silent_p.L257L|CTNNBL1_ENST00000405275.2_Silent_p.L417L|CTNNBL1_ENST00000373469.1_Silent_p.L192L|CTNNBL1_ENST00000473857.1_3'UTR	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	444					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)	p.L444L(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ACTAATGGAGTTGCATTTTAA	0.448																																					Ovarian(184;582 2038 3273 4106 42608)											1	Substitution - coding silent(1)	ovary(1)	20											159.0	127.0	138.0					20																	36470759		2203	4300	6503	35904173	SO:0001819	synonymous_variant	56259			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1330T>C	20.37:g.36470759T>C		Somatic		Capture	Illumina GAIIx	4	35904173	B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Silent	SNP	ENST00000361383.6	37	CCDS13298.1	SNP	60	WashU																																																																																				0.448	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		Silent
TSHZ3	57616	genome.wustl.edu	37	19	31769386	31769386	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1469-01	TCGA-24-1469-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr19:31769386A>G	ENST00000240587.4	-	2	1640	c.1313T>C	c.(1312-1314)cTg>cCg	p.L438P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	438					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L255P(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTCTCATCCAGCAGGGTTGT	0.552																																																1	Substitution - Missense(1)	ovary(1)	19											110.0	107.0	108.0					19																	31769386		2203	4300	6503	36461226	SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1313T>C	19.37:g.31769386A>G	ENSP00000240587:p.Leu438Pro	Somatic		Capture	Illumina GAIIx	4	36461226	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	SNP	7	WashU	.	.	.	.	.	.	.	.	.	.	A	10.24	1.294902	0.23564	.	.	ENSG00000121297	ENST00000240587	T	0.13089	2.62	5.55	5.55	0.83447	.	0.463445	0.22299	N	0.061898	T	0.10551	0.0258	N	0.14661	0.345	0.58432	D	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.09357	-1.0678	10	0.62326	D	0.03	-20.4064	15.7178	0.77681	1.0:0.0:0.0:0.0	.	438	Q63HK5	TSH3_HUMAN	P	438	ENSP00000240587:L438P	ENSP00000240587:L438P	L	-	2	0	TSHZ3	36461226	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.998000	0.57024	2.099000	0.63709	0.533000	0.62120	CTG		0.552	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		Missense_Mutation
KRT14	3861	genome.wustl.edu	37	17	39739812	39739812	+	Silent	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr17:39739812C>T	ENST00000167586.6	-	5	1130	c.1044G>A	c.(1042-1044)caG>caA	p.Q348Q		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	348	Coil 2.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)	p.Q348Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CCATGCTGAGCTGGGACTGCA	0.607																																																1	Substitution - coding silent(1)	ovary(1)	17											78.0	70.0	73.0					17																	39739812		2203	4300	6503	36993338	SO:0001819	synonymous_variant	3861			BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1044G>A	17.37:g.39739812C>T		Somatic		Capture	Illumina GAIIx	4	36993338	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	ENST00000167586.6	37	CCDS11400.1	SNP	28	WashU																																																																																				0.607	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		Silent
OTC	5009	genome.wustl.edu	37	X	38211976	38211976	+	Missense_Mutation	SNP	A	A	T	rs72552297		TCGA-24-1469-01	TCGA-24-1469-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chrX:38211976A>T	ENST00000039007.4	+	1	179	c.27A>T	c.(25-27)ttA>ttT	p.L9F	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	9					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)	p.L9F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	GGATCCTGTTAAACAATGCAG	0.418																																																1	Substitution - Missense(1)	ovary(1)	X											155.0	127.0	136.0					X																	38211976		2202	4300	6502	38096920	SO:0001583	missense	5009			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.27A>T	X.37:g.38211976A>T	ENSP00000039007:p.Leu9Phe	Somatic		Capture	Illumina GAIIx	4	38096920	A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	CCDS14247.1	SNP	13	WashU	.	.	.	.	.	.	.	.	.	.	a	6.144	0.394849	0.11638	.	.	ENSG00000036473	ENST00000039007	D	0.99176	-5.52	5.77	1.97	0.26223	.	0.570391	0.17778	N	0.162330	D	0.93903	0.8049	N	0.08118	0	0.26399	N	0.976459	B	0.02656	0.0	B	0.01281	0.0	D	0.87494	0.2429	10	0.13470	T	0.59	-3.6709	5.8666	0.18779	0.1724:0.2911:0.5365:0.0	.	9	P00480	OTC_HUMAN	F	9	ENSP00000039007:L9F	ENSP00000039007:L9F	L	+	3	2	OTC	38096920	0.995000	0.38212	0.941000	0.38009	0.629000	0.37895	0.450000	0.21762	-0.033000	0.13736	-0.918000	0.02743	TTA		0.418	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2			Missense_Mutation
EZH1	2145	genome.wustl.edu	37	17	40854917	40854917	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr17:40854917C>T	ENST00000428826.2	-	20	2282	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K	EZH1_ENST00000590078.1_Missense_Mutation_p.E651K|EZH1_ENST00000590783.1_5'Flank|EZH1_ENST00000585893.1_Missense_Mutation_p.E681K|EZH1_ENST00000435174.1_Missense_Mutation_p.E582K|EZH1_ENST00000592743.1_Missense_Mutation_p.E721K|EZH1_ENST00000415827.2_Missense_Mutation_p.E712K			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	721	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.			VVMVNGDHRIGIFAKRAIQAGEELFFDYRYSQADALKYVGI ERETDVL -> GESQ (in Ref. 2; BAA25019). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)	p.E721K(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		AAGAGCTCTTCGCCAGCTTGA	0.512																																																1	Substitution - Missense(1)	ovary(1)	17											184.0	177.0	179.0					17																	40854917		2203	4300	6503	38108443	SO:0001583	missense	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.2161G>A	17.37:g.40854917C>T	ENSP00000404658:p.Glu721Lys	Somatic		Capture	Illumina GAIIx	4	38108443	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	CCDS32659.1	SNP	31	WashU	.	.	.	.	.	.	.	.	.	.	C	36	5.932485	0.97116	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.87334	-2.24;-2.24	5.38	5.38	0.77491	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.94879	0.8345	M	0.90309	3.105	0.80722	D	1	D;D;D;D	0.89917	1.0;0.989;0.989;0.991	D;P;P;P	0.77004	0.989;0.864;0.823;0.889	D	0.95156	0.8277	10	0.66056	D	0.02	.	19.3294	0.94280	0.0:1.0:0.0:0.0	.	582;681;727;721	Q92800-5;Q92800-3;Q92800-2;Q92800	.;.;.;EZH1_HUMAN	K	724;721;681;582	ENSP00000404658:E721K;ENSP00000404071:E582K	ENSP00000264646:E724K	E	-	1	0	EZH1	38108443	1.000000	0.71417	0.969000	0.41365	0.979000	0.70002	7.651000	0.83577	2.804000	0.96469	0.462000	0.41574	GAA		0.512	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		Missense_Mutation
ENTHD1	150350	genome.wustl.edu	37	22	40271862	40271862	+	Intron	SNP	G	G	C			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr22:40271862G>C	ENST00000325157.6	-	2	600				RN7SKP210_ENST00000459176.1_RNA	NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1											breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GGAAGCTGCAGTTGAATTATC	0.438																																																0			22																																								38601808	SO:0001627	intron_variant				AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.349+11541C>G	22.37:g.40271862G>C		Somatic		Capture	Illumina GAIIx	4	38601808	B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	CCDS13998.1	SNP	36	WashU																																																																																				0.438	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		Missense_Mutation
TOP1	7150	genome.wustl.edu	37	20	39706228	39706228	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr20:39706228G>T	ENST00000361337.2	+	5	536	c.286G>T	c.(286-288)Gcc>Tcc	p.A96S		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	96	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)	p.A96S(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	TCAGGTTCGAGCCTCTGGGGA	0.438			T	NUP98	AML*																																		Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	1	Substitution - Missense(1)	ovary(1)	20											124.0	123.0	123.0					20																	39706228		2203	4300	6503	39139642	SO:0001583	missense	7150				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.286G>T	20.37:g.39706228G>T	ENSP00000354522:p.Ala96Ser	Somatic		Capture	Illumina GAIIx	4	39139642	A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	CCDS13312.1	SNP	34	WashU	.	.	.	.	.	.	.	.	.	.	G	6.503	0.460964	0.12342	.	.	ENSG00000198900	ENST00000361337	T	0.21361	2.01	4.9	3.86	0.44501	.	0.701138	0.14793	N	0.298125	T	0.08268	0.0206	N	0.03608	-0.345	0.32628	N	0.522427	B	0.21688	0.059	B	0.26416	0.069	T	0.12863	-1.0531	10	0.02654	T	1	-3.703	10.1455	0.42760	0.0:0.2635:0.7365:0.0	.	96	P11387	TOP1_HUMAN	S	96	ENSP00000354522:A96S	ENSP00000354522:A96S	A	+	1	0	TOP1	39139642	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	2.248000	0.43160	2.415000	0.81967	0.655000	0.94253	GCC		0.438	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			Missense_Mutation
TREML2	79865	genome.wustl.edu	37	6	41168739	41168739	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr6:41168739G>A	ENST00000483722.1	-	1	193	c.8C>T	c.(7-9)cCa>cTa	p.P3L		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	3					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.P62L(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGGAAGGCTGGGGCCATGGT	0.647																																																1	Substitution - Missense(1)	ovary(1)	6											35.0	34.0	35.0					6																	41168739		2203	4300	6503	41276717	SO:0001583	missense	79865			AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.8C>T	6.37:g.41168739G>A	ENSP00000418767:p.Pro3Leu	Somatic		Capture	Illumina GAIIx	4	41276717	Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	CCDS4853.2	SNP	47	WashU	.	.	.	.	.	.	.	.	.	.	.	17.36	3.368781	0.61624	.	.	ENSG00000112195	ENST00000483722	T	0.20598	2.06	5.19	4.3	0.51218	.	0.202302	0.24991	N	0.033999	T	0.05090	0.0136	L	0.29908	0.895	0.09310	N	1	P	0.37955	0.612	B	0.28784	0.094	T	0.20405	-1.0276	10	0.33141	T	0.24	-11.2644	10.205	0.43107	0.0974:0.0:0.9026:0.0	.	3	Q5T2D2	TRML2_HUMAN	L	3	ENSP00000418767:P3L	ENSP00000418767:P3L	P	-	2	0	TREML2	41276717	0.010000	0.17322	0.217000	0.23759	0.001000	0.01503	0.581000	0.23819	2.578000	0.87016	0.563000	0.77884	CCA		0.647	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		Missense_Mutation
ZNF345	25850	genome.wustl.edu	37	19	37367988	37367988	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr19:37367988G>A	ENST00000529555.1	+	2	1044	c.256G>A	c.(256-258)Ggt>Agt	p.G86S	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.G86S|ZNF345_ENST00000589046.1_Missense_Mutation_p.G86S|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	86					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G86S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATTCATACTGGTGAGAAACC	0.398																																																1	Substitution - Missense(1)	ovary(1)	19											91.0	96.0	94.0					19																	37367988		2203	4300	6503	42059828	SO:0001583	missense	25850			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.256G>A	19.37:g.37367988G>A	ENSP00000431202:p.Gly86Ser	Somatic		Capture	Illumina GAIIx	4	42059828		Missense_Mutation	SNP	ENST00000529555.1	37	CCDS12497.1	SNP	47	WashU	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227329	0.79576	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000331800	T;T;T	0.25085	1.82;1.82;1.82	4.28	4.28	0.50868	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41673	0.1169	L	0.42008	1.315	0.35576	D	0.805843	D	0.76494	0.999	D	0.79784	0.993	T	0.45934	-0.9227	8	.	.	.	.	14.5703	0.68205	0.0:0.0:1.0:0.0	.	86	Q14585	ZN345_HUMAN	S	86	ENSP00000431216:G86S;ENSP00000431202:G86S;ENSP00000331120:G86S	.	G	+	1	0	ZNF345	42059828	0.001000	0.12720	1.000000	0.80357	0.999000	0.98932	0.863000	0.27913	2.350000	0.79820	0.655000	0.94253	GGT		0.398	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			Missense_Mutation
GRXCR1	389207	genome.wustl.edu	37	4	42895288	42895288	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1469-01	TCGA-24-1469-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr4:42895288T>A	ENST00000399770.2	+	1	5	c.5T>A	c.(4-6)cTt>cAt	p.L2H	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	2					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.L2H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GTGACCATGCTTAAAAGGGAG	0.488																																																1	Substitution - Missense(1)	ovary(1)	4											84.0	89.0	87.0					4																	42895288		2024	4187	6211	42590045	SO:0001583	missense	389207				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.5T>A	4.37:g.42895288T>A	ENSP00000382670:p.Leu2His	Somatic		Capture	Illumina GAIIx	4	42590045		Missense_Mutation	SNP	ENST00000399770.2	37	CCDS43225.1	SNP	56	WashU	.	.	.	.	.	.	.	.	.	.	T	12.55	1.971550	0.34754	.	.	ENSG00000215203	ENST00000399770	T	0.30714	1.52	5.61	5.61	0.85477	.	0.417188	0.21838	U	0.068375	T	0.26738	0.0654	N	0.22421	0.69	0.20975	N	0.999816	P	0.46327	0.876	B	0.43360	0.417	T	0.15867	-1.0422	10	0.72032	D	0.01	-1.9946	15.0009	0.71469	0.0:0.0:0.0:1.0	.	2	A8MXD5	GRCR1_HUMAN	H	2	ENSP00000382670:L2H	ENSP00000382670:L2H	L	+	2	0	GRXCR1	42590045	0.995000	0.38212	0.830000	0.32933	0.006000	0.05464	5.558000	0.67319	2.135000	0.66039	0.528000	0.53228	CTT		0.488	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		Missense_Mutation
FCGBP	8857	genome.wustl.edu	37	19	40433544	40433544	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1469-01	TCGA-24-1469-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr19:40433544A>G	ENST00000221347.6	-	2	732	c.725T>C	c.(724-726)cTg>cCg	p.L242P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	242	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)		p.L242P(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGTGGGTAGCAGCTGCTCAAC	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											70.0	63.0	66.0					19																	40433544		2203	4300	6503	45125384	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.725T>C	19.37:g.40433544A>G	ENSP00000221347:p.Leu242Pro	Somatic		Capture	Illumina GAIIx	4	45125384	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	SNP	7	WashU	.	.	.	.	.	.	.	.	.	.	A	15.36	2.809151	0.50421	.	.	ENSG00000090920	ENST00000221347	T	0.26067	1.76	4.21	4.21	0.49690	.	0.123149	0.33075	U	0.005312	T	0.45034	0.1322	L	0.54323	1.7	0.53688	D	0.999974	D	0.89917	1.0	D	0.87578	0.998	T	0.43814	-0.9368	10	0.87932	D	0	.	13.2177	0.59869	1.0:0.0:0.0:0.0	.	242	Q9Y6R7	FCGBP_HUMAN	P	242	ENSP00000221347:L242P	ENSP00000221347:L242P	L	-	2	0	FCGBP	45125384	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	8.070000	0.89493	2.127000	0.65507	0.533000	0.62120	CTG		0.592	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		Missense_Mutation
CYP2A6	1548	genome.wustl.edu	37	19	41356314	41356314	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr19:41356314C>T	ENST00000301141.5	-	1	38	c.18G>A	c.(16-18)atG>atA	p.M6I	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	6				Missing (in Ref. 1; CAA32097). {ECO:0000305}.	coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.M6I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCACCAGAAGCATCCCTGAGG	0.552																																																1	Substitution - Missense(1)	ovary(1)	19											86.0	74.0	78.0					19																	41356314		2203	4298	6501	46048154	SO:0001583	missense	1548			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.18G>A	19.37:g.41356314C>T	ENSP00000301141:p.Met6Ile	Somatic		Capture	Illumina GAIIx	4	46048154	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	CCDS12568.1	SNP	25	WashU	.	.	.	.	.	.	.	.	.	.	-	6.351	0.432806	0.12045	.	.	ENSG00000255974	ENST00000301141	T	0.67523	-0.27	3.05	1.97	0.26223	.	0.964830	0.08457	U	0.942989	T	0.44095	0.1277	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25082	-1.0142	10	0.20519	T	0.43	.	8.8127	0.34976	0.2269:0.7731:0.0:0.0	.	6	P11509	CP2A6_HUMAN	I	6	ENSP00000301141:M6I	ENSP00000301141:M6I	M	-	3	0	CYP2A6	46048154	0.000000	0.05858	0.121000	0.21740	0.012000	0.07955	-0.520000	0.06252	0.452000	0.26830	0.185000	0.17295	ATG		0.552	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		Missense_Mutation
ENPP4	22875	genome.wustl.edu	37	6	46107815	46107815	+	Silent	SNP	T	T	C			TCGA-24-1469-01	TCGA-24-1469-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr6:46107815T>C	ENST00000321037.4	+	2	725	c.495T>C	c.(493-495)aaT>aaC	p.N165N		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	165					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)	p.N165N(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						AAAGACTAAATAATATTACTA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	6											121.0	120.0	120.0					6																	46107815		2203	4300	6503	46215774	SO:0001819	synonymous_variant	22875			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.495T>C	6.37:g.46107815T>C		Somatic		Capture	Illumina GAIIx	4	46215774	A8K5G1|Q7L2N1	Silent	SNP	ENST00000321037.4	37	CCDS34468.1	SNP	49	WashU																																																																																				0.418	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			Silent
DIP2A	23181	genome.wustl.edu	37	21	47924306	47924306	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr21:47924306G>A	ENST00000417564.2	+	6	709	c.688G>A	c.(688-690)Ggc>Agc	p.G230S	DIP2A_ENST00000427143.2_Missense_Mutation_p.G166S|DIP2A_ENST00000435722.3_Missense_Mutation_p.G230S|DIP2A_ENST00000466639.1_Intron|DIP2A_ENST00000457905.3_Missense_Mutation_p.G230S|DIP2A_ENST00000400274.1_Missense_Mutation_p.G230S|DIP2A_ENST00000318711.7_Missense_Mutation_p.G231S			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	230					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.G231S(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGTCACCACGGGCCTCGTGGA	0.507																																																1	Substitution - Missense(1)	ovary(1)	21											55.0	55.0	55.0					21																	47924306		1937	4150	6087	46748734	SO:0001583	missense	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.688G>A	21.37:g.47924306G>A	ENSP00000392066:p.Gly230Ser	Somatic		Capture	Illumina GAIIx	4	46748734	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	CCDS46655.1	SNP	43	WashU	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219686	0.39201	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000457905;ENST00000435722;ENST00000417564	T;T;T;T;T;T	0.21031	2.08;2.05;2.03;2.05;2.06;2.05	5.3	5.3	0.74995	.	0.158328	0.44285	D	0.000468	T	0.34832	0.0911	L	0.45137	1.4	0.80722	D	1	B;D;B;B;D	0.69078	0.017;0.965;0.017;0.071;0.997	B;D;B;B;D	0.70716	0.013;0.91;0.013;0.086;0.97	T	0.03662	-1.1015	10	0.06757	T	0.87	-25.3156	17.9833	0.89148	0.0:0.0:1.0:0.0	.	231;166;230;230;230	E9PER1;E7EMA5;Q14689;Q14689-4;Q14689-2	.;.;DIP2A_HUMAN;.;.	S	230;166;231;230;230;230	ENSP00000383133:G230S;ENSP00000400528:G166S;ENSP00000323633:G231S;ENSP00000393434:G230S;ENSP00000415089:G230S;ENSP00000392066:G230S	ENSP00000323633:G231S	G	+	1	0	DIP2A	46748734	1.000000	0.71417	0.648000	0.29521	0.660000	0.38997	6.449000	0.73473	2.462000	0.83206	0.655000	0.94253	GGC		0.507	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		Missense_Mutation
PSG3	5671	genome.wustl.edu	37	19	43237164	43237164	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr19:43237164C>T	ENST00000327495.5	-	3	665	c.481G>A	c.(481-483)Gac>Aac	p.D161N	PSG3_ENST00000490592.1_5'Flank|PSG3_ENST00000595140.1_Missense_Mutation_p.D161N	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	161	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.D161N(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCCTCCATGTCCTCCCTGGGG	0.537																																																1	Substitution - Missense(1)	ovary(1)	19											204.0	200.0	201.0					19																	43237164		2203	4300	6503	47929004	SO:0001583	missense	5671				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.481G>A	19.37:g.43237164C>T	ENSP00000332215:p.Asp161Asn	Somatic		Capture	Illumina GAIIx	4	47929004	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	SNP	30	WashU	.	.	.	.	.	.	.	.	.	.	-	0.009	-1.858444	0.00558	.	.	ENSG00000221826	ENST00000327495	T	0.12569	2.67	1.59	-3.18	0.05186	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03915	0.0110	N	0.05158	-0.105	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.13407	0.007;0.009	T	0.39981	-0.9587	9	0.02654	T	1	.	3.1133	0.06366	0.0:0.2745:0.3381:0.3874	.	139;161	Q08266;Q16557	.;PSG3_HUMAN	N	161	ENSP00000332215:D161N	ENSP00000332215:D161N	D	-	1	0	PSG3	47929004	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.478000	0.02329	-0.880000	0.03997	0.393000	0.25936	GAC		0.537	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		Missense_Mutation
RB1	5925	genome.wustl.edu	37	13	49039210	49039210	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01	TCGA-24-1469-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr13:49039210G>C	ENST00000267163.4	+	22	2426	c.2288G>C	c.(2287-2289)aGa>aCa	p.R763T		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	763	Domain B.|Interaction with LIMD1.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(12)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTCATGCAGAGACTGAAAACA	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	27	Whole gene deletion(15)|Unknown(12)	bone(11)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	13											67.0	69.0	68.0					13																	49039210		2203	4300	6503	47937211	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2288G>C	13.37:g.49039210G>C	ENSP00000267163:p.Arg763Thr	Somatic		Capture	Illumina GAIIx	4	47937211	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	SNP	33	WashU	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491810	0.44249	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.91295	-2.82	5.48	2.37	0.29283	Retinoblastoma-associated protein, B-box (1);Cyclin-like (2);	0.174731	0.48767	D	0.000163	T	0.78375	0.4273	N	0.08118	0	0.44745	D	0.997748	B	0.22080	0.064	B	0.19946	0.027	T	0.71689	-0.4517	10	0.72032	D	0.01	-10.9625	7.2647	0.26224	0.4489:0.0:0.5511:0.0	.	763	P06400	RB_HUMAN	T	742;763	ENSP00000267163:R763T	ENSP00000267163:R763T	R	+	2	0	RB1	47937211	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.710000	0.54860	0.675000	0.31264	0.591000	0.81541	AGA		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			Missense_Mutation
ZNF45	7596	genome.wustl.edu	37	19	44423030	44423030	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1469-01	TCGA-24-1469-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr19:44423030T>C	ENST00000269973.5	-	9	1317	c.227A>G	c.(226-228)aAc>aGc	p.N76S	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.N76S	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N76S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ACCTGAGGAGTTATCTCTCTG	0.493																																																1	Substitution - Missense(1)	ovary(1)	19											124.0	97.0	106.0					19																	44423030		2203	4300	6503	49114870	SO:0001583	missense	7596			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.227A>G	19.37:g.44423030T>C	ENSP00000269973:p.Asn76Ser	Somatic		Capture	Illumina GAIIx	4	49114870	P17016|P78472|Q9P1U9	Missense_Mutation	SNP	ENST00000269973.5	37	CCDS12632.1	SNP	60	WashU	.	.	.	.	.	.	.	.	.	.	T	0.022	-1.411487	0.01145	.	.	ENSG00000124459	ENST00000269973;ENST00000328762	T	0.06218	3.33	3.1	-0.645	0.11475	Krueppel-associated box (1);	.	.	.	.	T	0.01870	0.0059	N	0.02181	-0.65	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47459	-0.9116	9	0.06891	T	0.86	.	5.9034	0.18980	0.0:0.5096:0.0:0.4904	.	76	Q02386	ZNF45_HUMAN	S	76	ENSP00000269973:N76S	ENSP00000269973:N76S	N	-	2	0	ZNF45	49114870	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.535000	0.06142	-0.082000	0.12640	0.482000	0.46254	AAC		0.493	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		Missense_Mutation
SOS2	6655	genome.wustl.edu	37	14	50623835	50623835	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr14:50623835C>G	ENST00000216373.5	-	12	2213	c.1939G>C	c.(1939-1941)Gaa>Caa	p.E647Q	SOS2_ENST00000543680.1_Missense_Mutation_p.E614Q|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	647	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				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.E647Q(1)		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)					TCTGGAATTTCAAACCTAAGA	0.408																																																1	Substitution - Missense(1)	ovary(1)	14											74.0	68.0	70.0					14																	50623835		2203	4300	6503	49693585	SO:0001583	missense	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.1939G>C	14.37:g.50623835C>G	ENSP00000216373:p.Glu647Gln	Somatic		Capture	Illumina GAIIx	4	49693585	B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	SNP	29	WashU	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493406	0.44352	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.51574	0.7;0.7	4.95	4.95	0.65309	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.045991	0.85682	D	0.000000	T	0.45696	0.1355	L	0.46614	1.455	0.58432	D	0.999999	B;B;B	0.27951	0.195;0.018;0.029	B;B;B	0.30029	0.11;0.016;0.029	T	0.38200	-0.9672	10	0.36615	T	0.2	.	18.5643	0.91112	0.0:1.0:0.0:0.0	.	614;677;647	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	Q	647;614	ENSP00000216373:E647Q;ENSP00000445328:E614Q	ENSP00000216373:E647Q	E	-	1	0	SOS2	49693585	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	4.890000	0.63178	2.441000	0.82636	0.585000	0.79938	GAA		0.408	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			Missense_Mutation
KRT2	3849	genome.wustl.edu	37	12	53039025	53039025	+	Silent	SNP	G	G	A	rs186531871		TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr12:53039025G>A	ENST00000309680.3	-	9	1719	c.1698C>T	c.(1696-1698)ggC>ggT	p.G566G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	566	Tail.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.G566G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CAGAACCACCGCCAGAGCCAT	0.577																																																1	Substitution - coding silent(1)	ovary(1)	12											180.0	181.0	181.0					12																	53039025		2203	4300	6503	51325292	SO:0001819	synonymous_variant	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1698C>T	12.37:g.53039025G>A		Somatic		Capture	Illumina GAIIx	4	51325292	Q4VAQ2	Silent	SNP	ENST00000309680.3	37	CCDS8835.1	SNP	38	WashU																																																																																				0.577	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		Silent
PKHD1	5314	genome.wustl.edu	37	6	51732833	51732833	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr6:51732833C>A	ENST00000371117.3	-	48	7836	c.7561G>T	c.(7561-7563)Gca>Tca	p.A2521S	PKHD1_ENST00000340994.4_Missense_Mutation_p.A2521S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2521					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.A2521S(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAAATTGCTGCATGAGGAAAT	0.388																																																1	Substitution - Missense(1)	ovary(1)	6											72.0	69.0	70.0					6																	51732833		2203	4299	6502	51840792	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7561G>T	6.37:g.51732833C>A	ENSP00000360158:p.Ala2521Ser	Somatic		Capture	Illumina GAIIx	4	51840792	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	SNP	25	WashU	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727894	0.30593	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86956	-1.99;-2.19	5.67	3.87	0.44632	.	0.244841	0.35378	N	0.003247	T	0.68513	0.3009	L	0.44542	1.39	0.30110	N	0.80664	B;B;B	0.18461	0.012;0.012;0.028	B;B;B	0.14023	0.007;0.01;0.007	T	0.54057	-0.8350	10	0.15499	T	0.54	.	14.0659	0.64828	0.5061:0.4939:0.0:0.0	.	2521;2521;2521	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	S	2521	ENSP00000360158:A2521S;ENSP00000341097:A2521S	ENSP00000341097:A2521S	A	-	1	0	PKHD1	51840792	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.966000	0.29331	0.737000	0.32582	0.591000	0.81541	GCA		0.388	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		Missense_Mutation
C5AR1	728	genome.wustl.edu	37	19	47823120	47823120	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr19:47823120C>T	ENST00000355085.3	+	2	108	c.86C>T	c.(85-87)aCt>aTt	p.T29I		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	29					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)	p.T29I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		GTGGATAAAACTTCTAACACG	0.532																																																1	Substitution - Missense(1)	ovary(1)	19											161.0	138.0	146.0					19																	47823120		2203	4300	6503	52514960	SO:0001583	missense	728				CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.86C>T	19.37:g.47823120C>T	ENSP00000347197:p.Thr29Ile	Somatic		Capture	Illumina GAIIx	4	52514960		Missense_Mutation	SNP	ENST00000355085.3	37	CCDS33063.1	SNP	20	WashU	.	.	.	.	.	.	.	.	.	.	C	1.348	-0.592248	0.03799	.	.	ENSG00000197405	ENST00000355085	T	0.36878	1.23	3.29	-2.24	0.06909	.	11.133400	0.01115	U	0.005666	T	0.19087	0.0458	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.14531	-1.0469	10	0.30854	T	0.27	.	6.1581	0.20348	0.5299:0.2958:0.1744:0.0	.	29	P21730	C5AR_HUMAN	I	29	ENSP00000347197:T29I	ENSP00000347197:T29I	T	+	2	0	C5AR1	52514960	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.034000	0.13776	-0.284000	0.09102	-0.534000	0.04291	ACT		0.532	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		Missense_Mutation
RB1CC1	9821	genome.wustl.edu	37	8	53586648	53586648	+	Silent	SNP	A	A	C			TCGA-24-1469-01	TCGA-24-1469-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr8:53586648A>C	ENST00000025008.5	-	7	1282	c.759T>G	c.(757-759)tcT>tcG	p.S253S	RB1CC1_ENST00000539297.1_Silent_p.S253S|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Silent_p.S253S	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	253					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.S253S(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AGGTTAACAAAGATTCGTTAG	0.418																																					GBM(180;1701 2102 13475 42023 52570)											1	Substitution - coding silent(1)	ovary(1)	8											278.0	258.0	265.0					8																	53586648		2203	4300	6503	53749201	SO:0001819	synonymous_variant	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.759T>G	8.37:g.53586648A>C		Somatic		Capture	Illumina GAIIx	4	53749201	Q86YR4|Q8WVU9|Q92601	Silent	SNP	ENST00000025008.5	37	CCDS34892.1	SNP	3	WashU																																																																																				0.418	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		Silent
PSME4	23198	genome.wustl.edu	37	2	54122200	54122200	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1469-01	TCGA-24-1469-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr2:54122200A>C	ENST00000404125.1	-	34	3911	c.3856T>G	c.(3856-3858)Tat>Gat	p.Y1286D	PSME4_ENST00000421748.2_Missense_Mutation_p.Y430D	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1286					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.Y1172D(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACACCAGCATAAACAACCATA	0.373																																																1	Substitution - Missense(1)	ovary(1)	2											170.0	153.0	159.0					2																	54122200		2203	4300	6503	53975704	SO:0001583	missense	23198			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3856T>G	2.37:g.54122200A>C	ENSP00000384211:p.Tyr1286Asp	Somatic		Capture	Illumina GAIIx	4	53975704	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	CCDS33197.2	SNP	13	WashU	.	.	.	.	.	.	.	.	.	.	A	20.5	4.001947	0.74932	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.32023	1.47;1.51	5.51	5.51	0.81932	Armadillo-type fold (1);	0.114163	0.64402	D	0.000008	T	0.56804	0.2010	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	0.964;0.999;1.0	P;D;D	0.72982	0.885;0.956;0.979	T	0.58730	-0.7585	10	0.46703	T	0.11	.	15.9795	0.80097	1.0:0.0:0.0:0.0	.	661;430;1286	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	D	430;1286	ENSP00000410830:Y430D;ENSP00000384211:Y1286D	ENSP00000384211:Y1286D	Y	-	1	0	PSME4	53975704	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.549000	0.82163	2.225000	0.72522	0.529000	0.55759	TAT		0.373	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		Missense_Mutation
IL6ST	3572	genome.wustl.edu	37	5	55259234	55259234	+	Silent	SNP	T	T	A			TCGA-24-1469-01	TCGA-24-1469-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr5:55259234T>A	ENST00000381298.2	-	7	1071	c.759A>T	c.(757-759)atA>atT	p.I253I	IL6ST_ENST00000577363.1_5'Flank|IL6ST_ENST00000522633.2_Silent_p.I253I|IL6ST_ENST00000381294.3_Silent_p.I253I|IL6ST_ENST00000336909.5_Silent_p.I253I|IL6ST_ENST00000502326.3_Silent_p.I253I|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381293.2_Silent_p.I87I|IL6ST_ENST00000381287.4_Silent_p.I253I|IL6ST_ENST00000536319.1_Silent_p.I253I	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	253	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)	p.I253I(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATTTTAGTATTATAACACTCT	0.358			O		hepatocellular ca																																		Dom	yes		5	5q11	3572	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""		E	1	Substitution - coding silent(1)	ovary(1)	5											86.0	89.0	88.0					5																	55259234		2203	4297	6500	55294991	SO:0001819	synonymous_variant	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.759A>T	5.37:g.55259234T>A		Somatic		Capture	Illumina GAIIx	4	55294991	A0N0L4|Q5FC04|Q9UQ41	Silent	SNP	ENST00000381298.2	37	CCDS3971.1	SNP	61	WashU																																																																																				0.358	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		Silent
HMGCLL1	54511	genome.wustl.edu	37	6	55378917	55378917	+	Silent	SNP	G	G	T			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr6:55378917G>T	ENST00000398661.2	-	6	692	c.561C>A	c.(559-561)tcC>tcA	p.S187S	HMGCLL1_ENST00000308161.4_Silent_p.S125S|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000428842.1_Silent_p.S125S|HMGCLL1_ENST00000274901.4_Silent_p.S157S	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	187					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)	p.S187S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTTCTTCAATGGAACAGTTAA	0.363																																					Ovarian(35;840 893 7837 15538 42887)											1	Substitution - coding silent(1)	ovary(1)	6											77.0	72.0	74.0					6																	55378917		1820	4067	5887	55486876	SO:0001819	synonymous_variant	54511			AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.561C>A	6.37:g.55378917G>T		Somatic		Capture	Illumina GAIIx	4	55486876	B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Silent	SNP	ENST00000398661.2	37	CCDS43475.1	SNP	47	WashU																																																																																				0.363	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		Silent
DST	667	genome.wustl.edu	37	6	56469225	56469225	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr6:56469225C>T	ENST00000361203.3	-	36	9575	c.9568G>A	c.(9568-9570)Gag>Aag	p.E3190K	DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.E2864K|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.E3190K|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.E3190K|DST_ENST00000370754.5_Missense_Mutation_p.E3368K			Q03001	DYST_HUMAN	dystonin	3190					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E3190K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTAGATGCCTCATTTACCAAC	0.403																																																1	Substitution - Missense(1)	ovary(1)	6											30.0	29.0	30.0					6																	56469225		1843	4085	5928	56577184	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.9568G>A	6.37:g.56469225C>T	ENSP00000354508:p.Glu3190Lys	Somatic		Capture	Illumina GAIIx	4	56577184	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		SNP	29	WashU	.	.	.	.	.	.	.	.	.	.	C	9.233	1.036313	0.19669	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.83075	-0.14;-0.16;0.79;-1.68;-0.17;-0.6	5.14	4.02	0.46733	.	0.155041	0.29940	N	0.010806	T	0.59649	0.2209	.	.	.	0.27863	N	0.940314	B	0.22909	0.077	B	0.19391	0.025	T	0.58244	-0.7670	8	0.41790	T	0.15	.	7.8756	0.29592	0.0:0.7221:0.1576:0.1203	.	2864	Q03001-9	.	K	3368;3190;2864;3190;3190;2864	ENSP00000359790:E3368K;ENSP00000359805:E3190K;ENSP00000393645:E2864K;ENSP00000307959:E3190K;ENSP00000354508:E3190K;ENSP00000404924:E2864K	ENSP00000307959:E3190K	E	-	1	0	DST	56577184	0.001000	0.12720	0.025000	0.17156	0.534000	0.34807	0.178000	0.16820	2.548000	0.85928	0.650000	0.86243	GAG		0.403	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		Missense_Mutation
SIGLEC12	89858	genome.wustl.edu	37	19	52004722	52004722	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr19:52004722G>A	ENST00000291707.3	-	1	321	c.266C>T	c.(265-267)aCt>aTt	p.T89I	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	89	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.T89I(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCGGTCCCGAGTCTCCTCCTG	0.557																																																1	Substitution - Missense(1)	ovary(1)	19											158.0	137.0	144.0					19																	52004722		2203	4300	6503	56696534	SO:0001583	missense	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.266C>T	19.37:g.52004722G>A	ENSP00000291707:p.Thr89Ile	Somatic		Capture	Illumina GAIIx	4	56696534	Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	CCDS12833.1	SNP	36	WashU	.	.	.	.	.	.	.	.	.	.	.	14.50	2.554535	0.45487	.	.	ENSG00000254521	ENST00000291707	T	0.64618	-0.11	2.42	2.42	0.29668	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81009	0.4734	M	0.92649	3.33	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.67673	-0.5610	9	0.87932	D	0	.	8.0735	0.30704	0.0:0.0:1.0:0.0	.	89	Q96PQ1	SIG12_HUMAN	I	89	ENSP00000291707:T89I	ENSP00000291707:T89I	T	-	2	0	SIGLEC12	56696534	0.000000	0.05858	0.013000	0.15412	0.246000	0.25737	0.580000	0.23803	1.188000	0.43014	0.395000	0.25975	ACT		0.557	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		Missense_Mutation
OR10Q1	219960	genome.wustl.edu	37	11	57995625	57995625	+	Silent	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr11:57995625C>T	ENST00000316770.2	-	1	765	c.723G>A	c.(721-723)cgG>cgA	p.R241R		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R241R(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGGAGAAGGCCCGGCGGCGGC	0.632																																																1	Substitution - coding silent(1)	ovary(1)	11											60.0	56.0	58.0					11																	57995625		2201	4295	6496	57752201	SO:0001819	synonymous_variant	219960			AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.723G>A	11.37:g.57995625C>T		Somatic		Capture	Illumina GAIIx	4	57752201	Q6IFG4	Silent	SNP	ENST00000316770.2	37	CCDS31547.1	SNP	22	WashU																																																																																				0.632	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		Silent
KIR2DL3	3804	genome.wustl.edu	37	19	55250043	55250043	+	Splice_Site	SNP	T	T	A			TCGA-24-1469-01	TCGA-24-1469-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr19:55250043T>A	ENST00000342376.3	+	1	64	c.33T>A	c.(31-33)gtT>gtA	p.V11V	KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Splice_Site_p.V11V|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	11					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.V11V(1)		breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGGTGTGTGTTGGTGAGTCCT	0.602											OREG0003673	type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				1	Substitution - coding silent(1)	ovary(1)	19											134.0	154.0	147.0					19																	55250043		2000	3961	5961	59941855	SO:0001630	splice_region_variant	3804			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.34+1T>A	19.37:g.55250043T>A		Somatic	1006	Capture	Illumina GAIIx	4	59941855	O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Silent	SNP	ENST00000342376.3	37	CCDS33107.1	SNP	63	WashU																																																																																				0.602	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1		Silent	Silent
KIR3DL1	3811	genome.wustl.edu	37	19	55301549	55301549	+	Intron	SNP	C	C	G			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr19:55301549C>G	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GTGACCTTGTCCTGCAGCTCC	0.562																																																0			19											18.0	33.0	28.0					19																	55301549		609	1500	2109	59993361	SO:0001627	intron_variant	3802			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-27440C>G	19.37:g.55301549C>G		Somatic		Capture	Illumina GAIIx	4	59993361	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37		SNP	30	WashU																																																																																				0.562	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		Missense_Mutation
TPD52L2	7165	genome.wustl.edu	37	20	62507184	62507184	+	Silent	SNP	T	T	A			TCGA-24-1469-01	TCGA-24-1469-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr20:62507184T>A	ENST00000346249.4	+	4	406	c.330T>A	c.(328-330)tcT>tcA	p.S110S	TPD52L2_ENST00000369927.4_Intron|TPD52L2_ENST00000358548.4_Intron|TPD52L2_ENST00000348257.5_Intron|TPD52L2_ENST00000351424.4_Intron|TPD52L2_ENST00000217121.5_Silent_p.S110S|TPD52L2_ENST00000352482.4_Silent_p.S110S	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	110					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S110S(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					TGAAAACTTCTGAGAAACTTG	0.448																																																1	Substitution - coding silent(1)	ovary(1)	20											134.0	128.0	130.0					20																	62507184		2203	4300	6503	61977628	SO:0001819	synonymous_variant	7165			AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.330T>A	20.37:g.62507184T>A		Somatic		Capture	Illumina GAIIx	4	61977628	B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Silent	SNP	ENST00000346249.4	37	CCDS13540.1	SNP	55	WashU																																																																																				0.448	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080248.1			Silent
LPHN3	23284	genome.wustl.edu	37	4	62813971	62813971	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr4:62813971C>G	ENST00000514591.1	+	16	2907	c.2578C>G	c.(2578-2580)Ctg>Gtg	p.L860V	LPHN3_ENST00000514996.1_Missense_Mutation_p.L860V|LPHN3_ENST00000508946.1_Missense_Mutation_p.L860V|LPHN3_ENST00000507625.1_Missense_Mutation_p.L928V|LPHN3_ENST00000509896.1_Missense_Mutation_p.L928V|LPHN3_ENST00000514157.1_Missense_Mutation_p.L860V|LPHN3_ENST00000504896.1_Missense_Mutation_p.L860V|LPHN3_ENST00000512091.2_Missense_Mutation_p.L860V|LPHN3_ENST00000511324.1_Missense_Mutation_p.L928V|LPHN3_ENST00000508693.1_Missense_Mutation_p.L928V|LPHN3_ENST00000507164.1_Missense_Mutation_p.L928V|LPHN3_ENST00000506720.1_Missense_Mutation_p.L928V|LPHN3_ENST00000506700.1_Missense_Mutation_p.L860V|LPHN3_ENST00000506746.1_Missense_Mutation_p.L928V|LPHN3_ENST00000545650.1_Missense_Mutation_p.L860V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	847					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTTTGCAGTACTGATGGCACA	0.353																																																0			4											105.0	95.0	98.0					4																	62813971		1902	4124	6026	62496566	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2578C>G	4.37:g.62813971C>G	ENSP00000422533:p.Leu860Val	Somatic		Capture	Illumina GAIIx	4	62496566	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	SNP	20	WashU	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.16|18.16	3.561349|3.561349	0.65538|0.65538	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.74632|.	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86|.	5.79|5.79	-0.546|-0.546	0.11840|0.11840	GPS domain (3);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.82559|0.82559	0.5063|0.5063	H|H	0.94964|0.94964	3.605|3.605	0.44547|0.44547	D|D	0.997504|0.997504	D;D;D|.	0.76494|.	0.999;0.999;0.998|.	D;D;D|.	0.80764|.	0.994;0.994;0.99|.	D|D	0.83940|0.83940	0.0311|0.0311	10|5	0.87932|.	D|.	0|.	.|.	10.5153|10.5153	0.44885|0.44885	0.0:0.5607:0.0:0.4393|0.0:0.5607:0.0:0.4393	.|.	860;847;860|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	V|S	860;860;928;928;860;860;847;860;928;928;928;860;860;860;928;928;860|317	ENSP00000423388:L860V;ENSP00000422533:L860V;ENSP00000423787:L928V;ENSP00000425033:L928V;ENSP00000424120:L860V;ENSP00000439831:L860V;ENSP00000421476:L928V;ENSP00000424030:L928V;ENSP00000421372:L928V;ENSP00000425201:L860V;ENSP00000423434:L860V;ENSP00000421627:L860V;ENSP00000420931:L928V;ENSP00000425884:L928V;ENSP00000424258:L860V|.	ENSP00000280009:L860V|.	L|T	+|+	1|2	2|0	LPHN3|LPHN3	62496566|62496566	0.849000|0.849000	0.29639|0.29639	0.924000|0.924000	0.36721|0.36721	0.983000|0.983000	0.72400|0.72400	1.577000|1.577000	0.36515|0.36515	-0.000000|-0.000000	0.14550|0.14550	0.563000|0.563000	0.77884|0.77884	CTG|ACT		0.353	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			Missense_Mutation
ASPH	444	genome.wustl.edu	37	8	62555948	62555948	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1469-01	TCGA-24-1469-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr8:62555948T>G	ENST00000379454.4	-	9	941	c.754A>C	c.(754-756)Aca>Cca	p.T252P	ASPH_ENST00000518068.1_Missense_Mutation_p.T209P|ASPH_ENST00000522835.1_Missense_Mutation_p.T195P|ASPH_ENST00000517903.1_Missense_Mutation_p.T238P|ASPH_ENST00000517847.2_Missense_Mutation_p.T238P|ASPH_ENST00000522919.1_Missense_Mutation_p.T65P|ASPH_ENST00000445642.3_Missense_Mutation_p.T238P|ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000356457.5_Missense_Mutation_p.T252P|ASPH_ENST00000541428.1_Missense_Mutation_p.T223P	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	252	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)	p.T252P(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTAATACCTGTATCATGGTGC	0.323																																																1	Substitution - Missense(1)	ovary(1)	8											84.0	88.0	87.0					8																	62555948		2203	4300	6503	62718502	SO:0001583	missense	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.754A>C	8.37:g.62555948T>G	ENSP00000368767:p.Thr252Pro	Somatic		Capture	Illumina GAIIx	4	62718502	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	CCDS34898.1	SNP	57	WashU	.	.	.	.	.	.	.	.	.	.	T	16.23	3.063594	0.55432	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000522919;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835;ENST00000518306	T;T;T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.31	-4.85	0.03142	Aspartyl beta-hydroxylase/Triadin domain (1);	0.935388	0.09070	N	0.853092	T	0.48132	0.1483	L	0.38175	1.15	0.09310	N	1	D;P;P;P;P;P;D;P;P;B	0.55800	0.973;0.91;0.757;0.85;0.951;0.787;0.958;0.531;0.757;0.005	P;P;P;P;P;B;P;B;P;B	0.57679	0.825;0.676;0.744;0.58;0.452;0.34;0.744;0.346;0.658;0.01	T	0.44711	-0.9310	10	0.56958	D	0.05	.	3.3157	0.07032	0.1069:0.2803:0.1172:0.4955	.	233;195;238;219;223;233;209;252;238;252	B8Y0L3;B4DIC9;B7ZM95;B7ZM96;F5H667;F8W7A9;Q8TB28;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;.;.;.;ASPH_HUMAN	P	233;223;252;65;252;267;209;238;238;238;195;161	ENSP00000437864:T223P;ENSP00000368767:T252P;ENSP00000430516:T65P;ENSP00000348841:T252P;ENSP00000427823:T267P;ENSP00000429286:T209P;ENSP00000430245:T238P;ENSP00000394013:T238P;ENSP00000429954:T238P;ENSP00000429160:T195P	ENSP00000348841:T252P	T	-	1	0	ASPH	62718502	0.000000	0.05858	0.002000	0.10522	0.052000	0.14988	-1.252000	0.02880	-0.983000	0.03511	-0.408000	0.06270	ACA		0.323	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		Missense_Mutation
BPTF	2186	genome.wustl.edu	37	17	65920687	65920688	+	Missense_Mutation	DNP	AG	AG	CC			TCGA-24-1469-01	TCGA-24-1469-10	AG	AG					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr17:65920687_65920688AG>CC	ENST00000321892.4	+	17	6172_6173	c.6111_6112AG>CC	c.(6109-6114)gcAGtt>gcCCtt	p.V2038L	BPTF_ENST00000424123.3_Missense_Mutation_p.V1899L|BPTF_ENST00000335221.5_Missense_Mutation_p.V2038L|BPTF_ENST00000306378.6_Missense_Mutation_p.V1912L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2038					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGGCACAAGCAGTTGAGCAACA	0.441																																																0			17																																								63351150	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	Exception_encountered	17.37:g.65920687_65920688delinsCC	ENSP00000315454:p.Val2038Leu	Somatic		Capture	Illumina GAIIx	4	63351149	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	DNP	ENST00000321892.4	37		DNP	7	WashU																																																																																				0.441	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		Missense_Mutation
MZF1	7593	genome.wustl.edu	37	19	59082382	59082382	+	Silent	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr19:59082382C>T	ENST00000215057.2	-	2	935	c.375G>A	c.(373-375)gaG>gaA	p.E125E	AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594108.1_Silent_p.E125E|MZF1_ENST00000599369.1_Silent_p.E125E|MZF1_ENST00000594234.1_Silent_p.E125E	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	125	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E125E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GTCCGCCCGGCTCCCGGCGCA	0.697																																																1	Substitution - coding silent(1)	ovary(1)	19											17.0	20.0	19.0					19																	59082382		2156	4212	6368	63774194	SO:0001819	synonymous_variant	7593			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.375G>A	19.37:g.59082382C>T		Somatic		Capture	Illumina GAIIx	4	63774194	M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Silent	SNP	ENST00000215057.2	37	CCDS12988.1	SNP	28	WashU																																																																																				0.697	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		Silent
HEPH	9843	genome.wustl.edu	37	X	65409634	65409634	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chrX:65409634C>T	ENST00000343002.2	+	5	1581	c.917C>T	c.(916-918)gCa>gTa	p.A306V	HEPH_ENST00000441993.2_Missense_Mutation_p.A309V|HEPH_ENST00000374727.3_Missense_Mutation_p.A309V|HEPH_ENST00000419594.1_Missense_Mutation_p.A309V|HEPH_ENST00000336279.5_Missense_Mutation_p.A39V|HEPH_ENST00000519389.1_Missense_Mutation_p.A360V			Q9BQS7	HEPH_HUMAN	hephaestin	306	Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.A306V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTCCACACAGCATTTTTCCAT	0.493																																																1	Substitution - Missense(1)	ovary(1)	X											157.0	117.0	130.0					X																	65409634		2203	4300	6503	65326359	SO:0001583	missense	9843			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.917C>T	X.37:g.65409634C>T	ENSP00000343939:p.Ala306Val	Somatic		Capture	Illumina GAIIx	4	65326359	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37		SNP	25	WashU	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251376	0.22880	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.99709	-6.48;-6.48;-6.48;-6.48;-6.48;-6.48;-6.48	4.9	4.04	0.47022	Cupredoxin (2);	0.117606	0.56097	N	0.000022	D	0.97182	0.9079	N	0.11131	0.1	0.40662	D	0.982139	B;B;B	0.10296	0.002;0.003;0.002	B;B;B	0.15870	0.014;0.008;0.008	D	0.95765	0.8804	10	0.02654	T	1	.	11.0823	0.48068	0.0:0.906:0.0:0.094	.	360;309;306	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	V	360;309;39;309;309;306;306	ENSP00000430620:A360V;ENSP00000363859:A309V;ENSP00000337418:A39V;ENSP00000411687:A309V;ENSP00000413211:A309V;ENSP00000343939:A306V;ENSP00000398078:A306V	ENSP00000337418:A39V	A	+	2	0	HEPH	65326359	0.995000	0.38212	1.000000	0.80357	0.971000	0.66376	2.385000	0.44371	0.857000	0.35407	0.594000	0.82650	GCA		0.493	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		Missense_Mutation
PCDH9	5101	genome.wustl.edu	37	13	67205458	67205458	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr13:67205458C>T	ENST00000377865.2	-	3	3358	c.3224G>A	c.(3223-3225)gGt>gAt	p.G1075D	PCDH9_ENST00000328454.5_Missense_Mutation_p.G1041D|PCDH9_ENST00000456367.1_Missense_Mutation_p.G1041D|RNU7-87P_ENST00000459343.1_RNA|PCDH9_ENST00000544246.1_Missense_Mutation_p.G1075D			Q9HC56	PCDH9_HUMAN	protocadherin 9	1075					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1075D(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGTTCCACTACCCACCGGCTC	0.552																																																1	Substitution - Missense(1)	ovary(1)	13											131.0	113.0	119.0					13																	67205458		2203	4300	6503	66103459	SO:0001583	missense	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3224G>A	13.37:g.67205458C>T	ENSP00000367096:p.Gly1075Asp	Somatic		Capture	Illumina GAIIx	4	66103459	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	SNP	18	WashU	.	.	.	.	.	.	.	.	.	.	C	32	5.129727	0.94473	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.56103	0.58;0.58;0.48;0.48	5.45	5.45	0.79879	.	0.175226	0.28403	N	0.015463	T	0.62183	0.2407	L	0.47190	1.495	0.53005	D	0.999969	D;D	0.53885	0.957;0.963	P;P	0.53954	0.738;0.574	T	0.63963	-0.6518	10	0.62326	D	0.03	.	19.2785	0.94042	0.0:1.0:0.0:0.0	.	1041;1075	Q9HC56-2;Q9HC56	.;PCDH9_HUMAN	D	1075;1075;1041;1041	ENSP00000442186:G1075D;ENSP00000367096:G1075D;ENSP00000401699:G1041D;ENSP00000332060:G1041D	ENSP00000332060:G1041D	G	-	2	0	PCDH9	66103459	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.259000	0.78381	2.550000	0.86006	0.655000	0.94253	GGT		0.552	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		Missense_Mutation
MPP5	64398	genome.wustl.edu	37	14	67790521	67790521	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1469-01	TCGA-24-1469-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr14:67790521A>T	ENST00000261681.4	+	14	2504	c.1843A>T	c.(1843-1845)Aat>Tat	p.N615Y	MPP5_ENST00000555925.1_Missense_Mutation_p.N581Y|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	615	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)	p.N615Y(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AGAAGGCAAGAATCCAAAGGT	0.383																																																1	Substitution - Missense(1)	ovary(1)	14											70.0	70.0	70.0					14																	67790521		2203	4300	6503	66860274	SO:0001583	missense	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1843A>T	14.37:g.67790521A>T	ENSP00000261681:p.Asn615Tyr	Somatic		Capture	Illumina GAIIx	4	66860274	A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	CCDS9779.1	SNP	9	WashU	.	.	.	.	.	.	.	.	.	.	A	22.1	4.242484	0.79912	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.18016	2.24;2.24	5.64	5.64	0.86602	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	L	0.42686	1.345	0.80722	D	1	P	0.40515	0.719	P	0.51324	0.666	T	0.01087	-1.1456	10	0.59425	D	0.04	.	15.8662	0.79067	1.0:0.0:0.0:0.0	.	615	Q8N3R9	MPP5_HUMAN	Y	615;581	ENSP00000261681:N615Y;ENSP00000451488:N581Y	ENSP00000261681:N615Y	N	+	1	0	MPP5	66860274	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.122000	0.71608	2.153000	0.67306	0.377000	0.23210	AAT		0.383	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		Missense_Mutation
ANTXR1	84168	genome.wustl.edu	37	2	69304552	69304552	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr2:69304552G>A	ENST00000303714.4	+	8	896	c.574G>A	c.(574-576)Gcg>Acg	p.A192T	ANTXR1_ENST00000409349.3_Missense_Mutation_p.A192T|ANTXR1_ENST00000409829.3_Missense_Mutation_p.A192T	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	192	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)	p.A192T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GGCCCGGATTGCGGACAGTAA	0.498									Familial Infantile Hemangioma																																							1	Substitution - Missense(1)	ovary(1)	2											197.0	174.0	182.0					2																	69304552		2203	4300	6503	69158056	SO:0001583	missense	84168	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.574G>A	2.37:g.69304552G>A	ENSP00000301945:p.Ala192Thr	Somatic		Capture	Illumina GAIIx	4	69158056	A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	CCDS1892.1	SNP	46	WashU	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797346	0.90538	.	.	ENSG00000169604	ENST00000303714;ENST00000409829;ENST00000409349	D;D;D	0.87650	-2.28;-2.28;-2.28	5.39	5.39	0.77823	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.94384	0.8194	M	0.88775	2.98	0.54753	D	0.999987	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.999	D	0.94713	0.7894	10	0.54805	T	0.06	-15.8878	16.6455	0.85176	0.0:0.0:1.0:0.0	.	192;192;192;192	Q9H6X2;Q9H6X2-2;Q9H6X2-4;Q9H6X2-3	ANTR1_HUMAN;.;.;.	T	192	ENSP00000301945:A192T;ENSP00000387058:A192T;ENSP00000386494:A192T	ENSP00000301945:A192T	A	+	1	0	ANTXR1	69158056	1.000000	0.71417	0.911000	0.35937	0.993000	0.82548	8.215000	0.89762	2.540000	0.85666	0.655000	0.94253	GCG		0.498	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		Missense_Mutation
CD300LB	124599	genome.wustl.edu	37	17	72527586	72527586	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr17:72527586G>C	ENST00000392621.1	-	1	19	c.15C>G	c.(13-15)tgC>tgG	p.C5W	CD300LB_ENST00000314401.3_Missense_Mutation_p.C5W	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	0					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C5W(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GCTCTGGCTTGCACCTTCTGC	0.488																																																1	Substitution - Missense(1)	ovary(1)	17											79.0	71.0	74.0					17																	72527586		2203	4300	6503	70039181	SO:0001583	missense	124599			AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.15C>G	17.37:g.72527586G>C	ENSP00000376397:p.Cys5Trp	Somatic		Capture	Illumina GAIIx	4	70039181	Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	CCDS11700.1	SNP	46	WashU	.	.	.	.	.	.	.	.	.	.	G	3.690	-0.063635	0.07273	.	.	ENSG00000178789	ENST00000314401	T	0.05855	3.38	3.94	-1.71	0.08133	.	.	.	.	.	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	P	0.58721	0.844	T	0.32295	-0.9912	9	0.62326	D	0.03	.	2.3056	0.04173	0.3729:0.0:0.2218:0.4053	.	5	B4DQ71	.	W	5	ENSP00000317337:C5W	ENSP00000317337:C5W	C	-	3	2	CD300LB	70039181	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.175000	0.16762	-0.036000	0.13669	0.467000	0.42956	TGC		0.488	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		Missense_Mutation
LRRC7	57554	genome.wustl.edu	37	1	70504433	70504433	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr1:70504433G>C	ENST00000035383.5	+	19	2842	c.2812G>C	c.(2812-2814)Gat>Cat	p.D938H	LRRC7_ENST00000415775.2_Missense_Mutation_p.D222H|LRRC7_ENST00000310961.5_Missense_Mutation_p.D943H	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	938						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.D938H(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCTAATGAAAGATATCAAGTC	0.363																																																1	Substitution - Missense(1)	ovary(1)	1											56.0	58.0	57.0					1																	70504433		2203	4300	6503	70277021	SO:0001583	missense	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2812G>C	1.37:g.70504433G>C	ENSP00000035383:p.Asp938His	Somatic		Capture	Illumina GAIIx	4	70277021	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	SNP	33	WashU	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354722	0.41700	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.37915	1.17;1.24;2.33	5.67	5.67	0.87782	.	0.053861	0.64402	D	0.000001	T	0.46347	0.1388	L	0.47716	1.5	0.58432	D	0.999997	D;D;D	0.67145	0.996;0.98;0.966	D;P;P	0.65987	0.94;0.847;0.707	T	0.37686	-0.9695	10	0.59425	D	0.04	.	18.7487	0.91804	0.0:0.0:1.0:0.0	.	222;938;938	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	H	943;938;222;761	ENSP00000309245:D943H;ENSP00000035383:D938H;ENSP00000394867:D222H	ENSP00000035383:D938H	D	+	1	0	LRRC7	70277021	1.000000	0.71417	0.999000	0.59377	0.158000	0.22134	9.201000	0.95017	2.686000	0.91538	0.467000	0.42956	GAT		0.363	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		Missense_Mutation
DDX21	9188	genome.wustl.edu	37	10	70721880	70721880	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr10:70721880C>A	ENST00000354185.4	+	3	672	c.574C>A	c.(574-576)Ccc>Acc	p.P192T		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	192					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.P192T(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCTAATTTTCCCATATCTGA	0.318																																																1	Substitution - Missense(1)	ovary(1)	10											82.0	87.0	85.0					10																	70721880		2203	4298	6501	70391886	SO:0001583	missense	9188			U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.574C>A	10.37:g.70721880C>A	ENSP00000346120:p.Pro192Thr	Somatic		Capture	Illumina GAIIx	4	70391886	B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	ENST00000354185.4	37	CCDS31211.1	SNP	30	WashU	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544006	0.45280	.	.	ENSG00000165732	ENST00000354185	T	0.39056	1.1	5.46	4.55	0.56014	RNA helicase, DEAD-box type, Q motif (1);	0.328641	0.33346	N	0.005002	T	0.32941	0.0846	L	0.59436	1.845	0.50313	D	0.999869	P	0.39022	0.655	B	0.33521	0.165	T	0.05289	-1.0894	10	0.23302	T	0.38	-9.2872	8.7805	0.34789	0.0:0.7352:0.1339:0.1308	.	192	Q9NR30	DDX21_HUMAN	T	192	ENSP00000346120:P192T	ENSP00000346120:P192T	P	+	1	0	DDX21	70391886	0.551000	0.26497	1.000000	0.80357	0.990000	0.78478	0.644000	0.24766	2.726000	0.93360	0.655000	0.94253	CCC		0.318	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728		Missense_Mutation
ZNF516	9658	genome.wustl.edu	37	18	74091912	74091912	+	Missense_Mutation	SNP	C	C	G	rs201138112		TCGA-24-1469-01	TCGA-24-1469-10	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr18:74091912C>G	ENST00000443185.2	-	4	2475	c.2158G>C	c.(2158-2160)Ggg>Cgg	p.G720R	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	720					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.G720R(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TTCCCTCCCCCAGAGTGTTCC	0.617																																																1	Substitution - Missense(1)	ovary(1)	18											52.0	56.0	55.0					18																	74091912		2009	4183	6192	72220900	SO:0001583	missense	9658			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2158G>C	18.37:g.74091912C>G	ENSP00000394757:p.Gly720Arg	Somatic		Capture	Illumina GAIIx	4	72220900		Missense_Mutation	SNP	ENST00000443185.2	37		SNP	21	WashU	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431864	0.25813	.	.	ENSG00000101493	ENST00000443185	T	0.09350	2.99	4.55	3.68	0.42216	.	0.836728	0.10332	N	0.687481	T	0.09158	0.0226	.	.	.	0.09310	N	1	P	0.49961	0.93	P	0.45506	0.483	T	0.21552	-1.0242	9	0.23891	T	0.37	-32.1277	4.8943	0.13742	0.0:0.6141:0.1942:0.1917	.	720	Q92618	ZN516_HUMAN	R	720	ENSP00000394757:G720R	ENSP00000394757:G720R	G	-	1	0	ZNF516	72220900	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.489000	0.22387	1.134000	0.42165	0.655000	0.94253	GGG		0.617	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		Missense_Mutation
ALMS1	7840	genome.wustl.edu	37	2	73676880	73676880	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr2:73676880G>A	ENST00000264448.6	+	8	3334	c.3223G>A	c.(3223-3225)Gtt>Att	p.V1075I	ALMS1_ENST00000377715.1_Missense_Mutation_p.V1075I|ALMS1_ENST00000409009.1_Missense_Mutation_p.V1033I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1075	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGTCTGAAAGTTTCAGCCTT	0.473																																																0			2											110.0	114.0	113.0					2																	73676880		1933	4128	6061	73530388	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3223G>A	2.37:g.73676880G>A	ENSP00000264448:p.Val1075Ile	Somatic		Capture	Illumina GAIIx	4	73530388	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	SNP	36	WashU	.	.	.	.	.	.	.	.	.	.	G	14.68	2.609050	0.46527	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16597	3.22;3.22;2.33	4.39	-0.801	0.10893	.	0.840644	0.10187	N	0.705088	T	0.25457	0.0619	L	0.57536	1.79	0.09310	N	1	B;D;D	0.76494	0.423;0.999;0.996	B;P;P	0.61533	0.126;0.89;0.872	T	0.21075	-1.0256	10	0.23891	T	0.37	.	3.6277	0.08119	0.389:0.0:0.4276:0.1834	.	1075;1033;1075	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	I	1033;1075;1075	ENSP00000386627:V1033I;ENSP00000264448:V1075I;ENSP00000366944:V1075I	ENSP00000264448:V1075I	V	+	1	0	ALMS1	73530388	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.485000	0.06520	-0.154000	0.11118	0.591000	0.81541	GTT		0.473	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		Missense_Mutation
HEXB	3074	genome.wustl.edu	37	5	74014631	74014631	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr5:74014631G>C	ENST00000261416.7	+	11	1369	c.1252G>C	c.(1252-1254)Ggc>Cgc	p.G418R	HEXB_ENST00000509579.1_5'Flank|GFM2_ENST00000515125.1_5'Flank|HEXB_ENST00000513539.1_Intron|HEXB_ENST00000511181.1_Missense_Mutation_p.G193R	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	418					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G418R(1)		endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		GCTTGCGCCGGGCACAATAGT	0.393																																					Melanoma(66;841 1270 13391 18706 27225)											1	Substitution - Missense(1)	ovary(1)	5											119.0	113.0	115.0					5																	74014631		2203	4300	6503	74050387	SO:0001583	missense	3074			M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.1252G>C	5.37:g.74014631G>C	ENSP00000261416:p.Gly418Arg	Somatic		Capture	Illumina GAIIx	4	74050387		Missense_Mutation	SNP	ENST00000261416.7	37	CCDS4022.1	SNP	43	WashU	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.32|14.32	2.498849|2.498849	0.44455|0.44455	.|.	.|.	ENSG00000049860|ENSG00000049860	ENST00000513336|ENST00000511181;ENST00000261416	.|D;D	.|0.90444	.|-2.67;-2.67	6.07|6.07	4.23|4.23	0.50019|0.50019	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.225617|0.225617	0.52532|0.52532	D|D	0.000080|0.000080	D|D	0.89312|0.89312	0.6679|0.6679	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	.|P	.|0.48694	.|0.914	.|P	.|0.49252	.|0.604	D|D	0.89801|0.89801	0.3975|0.3975	6|10	.|0.66056	.|D	.|0.02	-9.7573|-9.7573	12.0717|12.0717	0.53620|0.53620	0.0653:0.1215:0.8132:0.0|0.0653:0.1215:0.8132:0.0	.|.	.|418	.|P07686	.|HEXB_HUMAN	A|R	63|193;418	.|ENSP00000426285:G193R;ENSP00000261416:G418R	.|ENSP00000261416:G418R	G|G	+|+	2|1	0|0	HEXB|HEXB	74050387|74050387	1.000000|1.000000	0.71417|0.71417	0.538000|0.538000	0.28064|0.28064	0.360000|0.360000	0.29518|0.29518	6.366000|6.366000	0.73095|0.73095	1.572000|1.572000	0.49736|0.49736	0.650000|0.650000	0.86243|0.86243	GGG|GGC		0.393	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	NM_000521		Missense_Mutation
USP54	159195	genome.wustl.edu	37	10	75302825	75302825	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr10:75302825G>A	ENST00000339859.4	-	5	540	c.440C>T	c.(439-441)gCc>gTc	p.A147V	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.A147V|USP54_ENST00000408019.1_Missense_Mutation_p.A147V|USP54_ENST00000428547.1_Intron			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	147	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.A147V(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GCAGTGTTGGGCAGTACATAT	0.388																																					Colon(195;880 2046 8854 25025 38456)											1	Substitution - Missense(1)	ovary(1)	10											201.0	188.0	192.0					10																	75302825		1877	4106	5983	74972831	SO:0001583	missense	159195			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.440C>T	10.37:g.75302825G>A	ENSP00000345216:p.Ala147Val	Somatic		Capture	Illumina GAIIx	4	74972831	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	CCDS7329.2	SNP	42	WashU	.	.	.	.	.	.	.	.	.	.	G	36	5.854507	0.97030	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000319786;ENST00000413442	T;T;T	0.31769	1.48;1.48;1.48	6.05	6.05	0.98169	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	U	0.000001	T	0.54598	0.1868	M	0.66939	2.045	0.54753	D	0.999981	P;D;P	0.65815	0.477;0.995;0.919	P;P;P	0.62089	0.451;0.898;0.686	T	0.46816	-0.9164	10	0.49607	T	0.09	-7.4006	20.6013	0.99457	0.0:0.0:1.0:0.0	.	147;147;147	B7Z7X1;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	V	147	ENSP00000345216:A147V;ENSP00000386080:A147V;ENSP00000326547:A147V	ENSP00000326547:A147V	A	-	2	0	USP54	74972831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.878000	0.98634	0.650000	0.86243	GCC		0.388	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		Missense_Mutation
MAGEE1	57692	genome.wustl.edu	37	X	75650481	75650481	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chrX:75650481G>C	ENST00000361470.2	+	1	2436	c.2158G>C	c.(2158-2160)Gag>Cag	p.E720Q		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	720						dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.E720Q(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AGCTGCTGCAGAGGTACCATC	0.512																																																1	Substitution - Missense(1)	ovary(1)	X											63.0	49.0	54.0					X																	75650481		2203	4300	6503	75566885	SO:0001583	missense	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2158G>C	X.37:g.75650481G>C	ENSP00000354912:p.Glu720Gln	Somatic		Capture	Illumina GAIIx	4	75566885	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	CCDS14433.1	SNP	33	WashU	.	.	.	.	.	.	.	.	.	.	.	7.494	0.651172	0.14516	.	.	ENSG00000198934	ENST00000361470	T	0.03982	3.74	2.26	2.26	0.28386	.	.	.	.	.	T	0.03827	0.0108	L	0.36672	1.1	0.09310	N	1	P	0.51933	0.949	B	0.37047	0.24	T	0.43621	-0.9380	9	0.44086	T	0.13	.	7.2115	0.25937	0.0:0.0:1.0:0.0	.	720	Q9HCI5	MAGE1_HUMAN	Q	720	ENSP00000354912:E720Q	ENSP00000354912:E720Q	E	+	1	0	MAGEE1	75566885	0.985000	0.35326	0.099000	0.21106	0.700000	0.40528	1.865000	0.39479	1.393000	0.46605	0.544000	0.68410	GAG		0.512	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		Missense_Mutation
F2RL2	2151	genome.wustl.edu	37	5	75919040	75919040	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1469-01	TCGA-24-1469-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr5:75919040A>C	ENST00000296641.4	-	1	219	c.16T>G	c.(16-18)Ttt>Gtt	p.F6V	F2RL2_ENST00000504899.1_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000379730.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	6					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)	p.F6V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		GCAGCTGCAAAGATGAGGGCT	0.453																																																1	Substitution - Missense(1)	ovary(1)	5											130.0	132.0	131.0					5																	75919040		2203	4300	6503	75954796	SO:0001583	missense	2151			U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"""GPCR / Class A : Protease activated receptors"""	3539	protein-coding gene	gene with protein product	"""proteinase-activated receptor-3"""	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.16T>G	5.37:g.75919040A>C	ENSP00000296641:p.Phe6Val	Somatic		Capture	Illumina GAIIx	4	75954796	B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	ENST00000296641.4	37	CCDS4031.1	SNP	3	WashU	.	.	.	.	.	.	.	.	.	.	A	13.41	2.229884	0.39399	.	.	ENSG00000164220	ENST00000296641	T	0.63096	-0.02	4.99	2.51	0.30379	.	0.355588	0.23142	N	0.051451	T	0.39627	0.1085	N	0.19112	0.55	0.09310	N	0.999994	B	0.06786	0.001	B	0.04013	0.001	T	0.16512	-1.0400	10	0.18710	T	0.47	-1.2128	6.0163	0.19605	0.7486:0.1645:0.0868:0.0	.	6	O00254	PAR3_HUMAN	V	6	ENSP00000296641:F6V	ENSP00000296641:F6V	F	-	1	0	F2RL2	75954796	0.006000	0.16342	0.007000	0.13788	0.484000	0.33280	0.494000	0.22467	0.312000	0.23038	0.477000	0.44152	TTT		0.453	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3			Missense_Mutation
ACADM	34	genome.wustl.edu	37	1	76205779	76205779	+	Missense_Mutation	SNP	G	G	A	rs121434278		TCGA-24-1469-01	TCGA-24-1469-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr1:76205779G>A	ENST00000370841.4	+	7	1020	c.583G>A	c.(583-585)Gga>Aga	p.G195R	ACADM_ENST00000541113.1_Missense_Mutation_p.G159R|ACADM_ENST00000420607.2_Missense_Mutation_p.G199R|ACADM_ENST00000543667.1_Missense_Mutation_p.G6R|ACADM_ENST00000370834.5_Missense_Mutation_p.G228R	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	195			G -> R (in ACADMD). {ECO:0000269|PubMed:7929823}.		cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)	p.G195R(1)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	GATAACCAACGGAGGAAAAGC	0.328																																																1	Substitution - Missense(1)	ovary(1)	1	GRCh37	CM940001	ACADM	M	rs121434278	G	ARG/GLY,ARG/GLY	0,4406		0,0,2203	104.0	108.0	107.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	583,595	5.5	1.0	1	dbSNP_132	107	2,8596	2.2+/-6.3	0,2,4297	no	missense,missense	ACADM	NM_000016.4,NM_001127328.1	125,125	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	195/422,199/426	76205779	2,13002	2203	4299	6502	75978367	SO:0001583	missense	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.583G>A	1.37:g.76205779G>A	ENSP00000359878:p.Gly195Arg	Somatic		Capture	Illumina GAIIx	4	75978367	Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	CCDS668.1	SNP	39	WashU	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555561	0.86231	0.0	2.33E-4	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	D;D;D;D;D	0.99158	-4.15;-4.15;-4.15;-5.5;-4.15	5.46	5.46	0.80206	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.99638	0.9867	H	0.97340	3.985	0.80722	A	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.995;0.995;0.996;0.997;0.999	D	0.97700	1.0184	9	0.87932	D	0	.	18.9215	0.92528	0.0:0.0:1.0:0.0	.	159;109;228;199;195	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	R	195;228;159;6;199	ENSP00000359878:G195R;ENSP00000359871:G228R;ENSP00000442324:G159R;ENSP00000446176:G6R;ENSP00000409612:G199R	ENSP00000359871:G228R	G	+	1	0	ACADM	75978367	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	9.590000	0.98238	2.546000	0.85860	0.650000	0.86243	GGA		0.328	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			Missense_Mutation
P2RY10	27334	genome.wustl.edu	37	X	78216714	78216714	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01	TCGA-24-1469-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chrX:78216714C>A	ENST00000171757.2	+	4	977	c.697C>A	c.(697-699)Caa>Aaa	p.Q233K	P2RY10_ENST00000544091.1_Missense_Mutation_p.Q233K	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.Q233K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						AATGGCTTTCCAAGGGATCAG	0.443																																																1	Substitution - Missense(1)	ovary(1)	X											107.0	95.0	99.0					X																	78216714		2203	4300	6503	78103370	SO:0001583	missense	27334			AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.697C>A	X.37:g.78216714C>A	ENSP00000171757:p.Gln233Lys	Somatic		Capture	Illumina GAIIx	4	78103370	D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	CCDS14442.1	SNP	21	WashU	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640097	0.47153	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.37584	1.19;1.19	4.61	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.441905	0.24343	N	0.039347	T	0.33673	0.0871	L	0.46157	1.445	0.32468	N	0.543153	P	0.38473	0.633	P	0.46208	0.507	T	0.23226	-1.0194	10	0.02654	T	1	.	11.3732	0.49713	0.0:0.8021:0.1978:0.0	.	233	O00398	P2Y10_HUMAN	K	233	ENSP00000443138:Q233K;ENSP00000171757:Q233K	ENSP00000171757:Q233K	Q	+	1	0	P2RY10	78103370	0.768000	0.28519	0.998000	0.56505	0.933000	0.57130	1.344000	0.33941	2.136000	0.66102	0.540000	0.68198	CAA		0.443	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			Missense_Mutation
PPP1R12A	4659	genome.wustl.edu	37	12	80215936	80215936	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1469-01	TCGA-24-1469-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr12:80215936A>G	ENST00000450142.2	-	6	1093	c.827T>C	c.(826-828)aTt>aCt	p.I276T	PPP1R12A_ENST00000546369.1_Missense_Mutation_p.I189T|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.I276T|RP11-530C5.2_ENST00000548469.1_RNA|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.I276T|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.I276T	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	276					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.I276T(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						ATATCCTAAAATGTCTTCATC	0.338																																																1	Substitution - Missense(1)	ovary(1)	12											84.0	79.0	81.0					12																	80215936		1826	4082	5908	78740067	SO:0001583	missense	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.827T>C	12.37:g.80215936A>G	ENSP00000389168:p.Ile276Thr	Somatic		Capture	Illumina GAIIx	4	78740067	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	CCDS44947.1	SNP	4	WashU	.	.	.	.	.	.	.	.	.	.	A	23.5	4.427788	0.83667	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330	T;T;T;T;T;T	0.39787	1.12;1.12;1.13;1.14;1.09;1.06	5.69	5.69	0.88448	Ankyrin repeat-containing domain (2);	0.103713	0.64402	D	0.000003	T	0.50990	0.1648	L	0.56769	1.78	0.80722	D	1	P;B;P;P	0.48407	0.91;0.031;0.489;0.854	P;B;B;B	0.49561	0.615;0.068;0.295;0.411	T	0.53208	-0.8471	10	0.56958	D	0.05	.	15.9548	0.79880	1.0:0.0:0.0:0.0	.	276;276;276;276	F8W8Q6;O14974-2;O14974-3;O14974	.;.;.;MYPT1_HUMAN	T	276;276;276;276;276;276;276;189;276;276	ENSP00000261207:I276T;ENSP00000389168:I276T;ENSP00000416769:I276T;ENSP00000449514:I189T;ENSP00000446855:I276T;ENSP00000446816:I276T	ENSP00000261207:I276T	I	-	2	0	PPP1R12A	78740067	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.720000	0.91442	2.171000	0.68590	0.528000	0.53228	ATT		0.338	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		Missense_Mutation
FRAS1	80144	genome.wustl.edu	37	4	79158685	79158685	+	Missense_Mutation	SNP	G	G	A	rs568676550		TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr4:79158685G>A	ENST00000325942.6	+	3	570	c.130G>A	c.(130-132)Gat>Aat	p.D44N	FRAS1_ENST00000264895.6_Missense_Mutation_p.D44N|FRAS1_ENST00000264899.6_Missense_Mutation_p.D44N	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	44	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.D44N(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTGGAAGCCCGATTCATGCCA	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19895	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	4											80.0	79.0	79.0					4																	79158685		1983	4160	6143	79377709	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.130G>A	4.37:g.79158685G>A	ENSP00000326330:p.Asp44Asn	Somatic		Capture	Illumina GAIIx	4	79377709	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	SNP	37	WashU	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772688	0.90108	.	.	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000380674	T;T;T	0.68903	-0.36;-0.36;-0.36	5.14	5.14	0.70334	.	0.133258	0.49305	D	0.000154	T	0.81456	0.4826	M	0.71920	2.185	0.50632	D	0.999887	D;D	0.89917	1.0;1.0	D;D	0.83275	0.951;0.996	T	0.83078	-0.0139	10	0.66056	D	0.02	.	17.7499	0.88430	0.0:0.0:1.0:0.0	.	44;44	E9PHH6;A2RRR8	.;.	N	44	ENSP00000326330:D44N;ENSP00000264895:D44N;ENSP00000264899:D44N	ENSP00000264895:D44N	D	+	1	0	FRAS1	79377709	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	4.876000	0.63079	2.560000	0.86352	0.467000	0.42956	GAT		0.448	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			Missense_Mutation
SV2B	9899	genome.wustl.edu	37	15	91769919	91769919	+	Silent	SNP	G	G	C			TCGA-24-1469-01	TCGA-24-1469-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr15:91769919G>C	ENST00000394232.1	+	2	896	c.426G>C	c.(424-426)ctG>ctC	p.L142L	SV2B_ENST00000330276.4_Silent_p.L142L|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000557291.1_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	142					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.L142L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ACATGTGTCTGTCCAGTTCCA	0.458																																																1	Substitution - coding silent(1)	ovary(1)	15											86.0	66.0	73.0					15																	91769919		2198	4298	6496	89570923	SO:0001819	synonymous_variant	9899			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.426G>C	15.37:g.91769919G>C		Somatic		Capture	Illumina GAIIx	4	89570923	B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	CCDS10370.1	SNP	48	WashU																																																																																				0.458	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		Silent
TTC7B	145567	genome.wustl.edu	37	14	91196491	91196491	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr14:91196491G>T	ENST00000328459.6	-	5	747	c.626C>A	c.(625-627)cCc>cAc	p.P209H	TTC7B_ENST00000357056.2_Missense_Mutation_p.P209H	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	209								p.P209H(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TTGATCGTGGGGAGCAGGGCC	0.403																																																1	Substitution - Missense(1)	ovary(1)	14											77.0	85.0	82.0					14																	91196491		2203	4300	6503	90266244	SO:0001583	missense	145567			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.626C>A	14.37:g.91196491G>T	ENSP00000336127:p.Pro209His	Somatic		Capture	Illumina GAIIx	4	90266244	Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	CCDS32140.1	SNP	43	WashU	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561206	0.65538	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000557766	T;T	0.36699	1.92;1.24	5.54	4.46	0.54185	.	0.270585	0.38778	N	0.001568	T	0.36441	0.0967	M	0.62723	1.935	0.37417	D	0.913478	P	0.34462	0.454	B	0.32980	0.156	T	0.45026	-0.9289	10	0.44086	T	0.13	-16.9309	14.1964	0.65675	0.0867:0.0:0.9132:0.0	.	209	Q86TV6	TTC7B_HUMAN	H	107;209;209;107	ENSP00000349564:P209H;ENSP00000336127:P209H	ENSP00000336127:P209H	P	-	2	0	TTC7B	90266244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.661000	0.61518	2.613000	0.88420	0.650000	0.86243	CCC		0.403	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			Missense_Mutation
MDN1	23195	genome.wustl.edu	37	6	90371845	90371845	+	Silent	SNP	A	A	G			TCGA-24-1469-01	TCGA-24-1469-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr6:90371845A>G	ENST00000369393.3	-	87	14641	c.14526T>C	c.(14524-14526)ggT>ggC	p.G4842G	MDN1_ENST00000428876.1_Silent_p.G4842G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4842					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.G4842G(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CACCTTGTCCACCATCATCAG	0.388																																																1	Substitution - coding silent(1)	ovary(1)	6											427.0	375.0	392.0					6																	90371845		2203	4299	6502	90428566	SO:0001819	synonymous_variant	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14526T>C	6.37:g.90371845A>G		Somatic		Capture	Illumina GAIIx	4	90428566	O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	CCDS5024.1	SNP	6	WashU																																																																																				0.388	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			Silent
SMEK1	55671	genome.wustl.edu	37	14	91931633	91931633	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr14:91931633C>A	ENST00000554943.1	-	11	1906	c.1791G>T	c.(1789-1791)atG>atT	p.M597I	SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Missense_Mutation_p.M358I|SMEK1_ENST00000337238.4_Missense_Mutation_p.M584I|SMEK1_ENST00000428424.2_Missense_Mutation_p.M358I|SMEK1_ENST00000554684.1_Missense_Mutation_p.M584I			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	597					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.M597I(1)		NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TGGCAGAGTTCATCAGATTGT	0.299																																																1	Substitution - Missense(1)	ovary(1)	14											93.0	96.0	95.0					14																	91931633		2203	4300	6503	91001386	SO:0001583	missense	55671			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1791G>T	14.37:g.91931633C>A	ENSP00000450883:p.Met597Ile	Somatic		Capture	Illumina GAIIx	4	91001386	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37		SNP	29	WashU	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052948	0.36181	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	6.17	6.17	0.99709	Armadillo-type fold (1);	0.033652	0.85682	D	0.000000	T	0.28366	0.0701	N	0.14661	0.345	0.58432	D	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.03773	-1.1005	10	0.44086	T	0.13	-18.5462	20.8794	0.99867	0.0:1.0:0.0:0.0	.	358;597;584	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	I	584;584;358;597;358;584	ENSP00000450864:M584I;ENSP00000337125:M584I;ENSP00000392704:M358I;ENSP00000450883:M597I;ENSP00000450891:M358I;ENSP00000452596:M584I	ENSP00000337125:M584I	M	-	3	0	SMEK1	91001386	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.623000	0.46435	2.941000	0.99782	0.655000	0.94253	ATG		0.299	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		Missense_Mutation
SAMD9	54809	genome.wustl.edu	37	7	92732292	92732292	+	Missense_Mutation	SNP	C	C	A	rs372955426		TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr7:92732292C>A	ENST00000379958.2	-	3	3388	c.3119G>T	c.(3118-3120)cGc>cTc	p.R1040L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1040						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.R1040L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGTTCATCGCGGTGTCTTGT	0.363																																																1	Substitution - Missense(1)	ovary(1)	7											113.0	101.0	105.0					7																	92732292		2203	4300	6503	92570228	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3119G>T	7.37:g.92732292C>A	ENSP00000369292:p.Arg1040Leu	Somatic		Capture	Illumina GAIIx	4	92570228	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	SNP	27	WashU	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492753	0.26774	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.25749	1.78;2.6	4.46	2.64	0.31445	.	0.179206	0.27164	N	0.020622	T	0.32010	0.0815	L	0.55990	1.75	0.09310	N	1	D	0.59767	0.986	P	0.53266	0.722	T	0.07028	-1.0794	10	0.72032	D	0.01	-0.2488	7.5755	0.27933	0.0:0.7234:0.0:0.2766	.	1040	Q5K651	SAMD9_HUMAN	L	1040	ENSP00000369292:R1040L;ENSP00000414529:R1040L	ENSP00000369292:R1040L	R	-	2	0	SAMD9	92570228	0.431000	0.25546	0.077000	0.20336	0.333000	0.28666	0.937000	0.28951	1.249000	0.43950	0.609000	0.83330	CGC		0.363	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		Missense_Mutation
MAML2	84441	genome.wustl.edu	37	11	95712141	95712141	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr11:95712141G>A	ENST00000524717.1	-	5	4726	c.3442C>T	c.(3442-3444)Ctt>Ttt	p.L1148F		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1148					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.L1148F(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				ATTTCATCAAGATTGATGTCT	0.383			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - Missense(1)	ovary(1)	11											59.0	57.0	58.0					11																	95712141		1844	4104	5948	95351789	SO:0001583	missense	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.3442C>T	11.37:g.95712141G>A	ENSP00000434552:p.Leu1148Phe	Somatic		Capture	Illumina GAIIx	4	95351789	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	CCDS44714.1	SNP	33	WashU	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750311	0.69533	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.70045	-0.45;-0.45	5.72	5.72	0.89469	.	0.000000	0.53938	D	0.000042	T	0.80747	0.4682	M	0.74647	2.275	0.42790	D	0.993891	D	0.89917	1.0	D	0.85130	0.997	T	0.82639	-0.0358	10	0.87932	D	0	-20.6985	13.1196	0.59318	0.073:0.0:0.927:0.0	.	1148	Q8IZL2	MAML2_HUMAN	F	1148	ENSP00000434552:L1148F;ENSP00000412394:L1148F	ENSP00000412394:L1148F	L	-	1	0	MAML2	95351789	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.207000	0.58480	2.699000	0.92147	0.561000	0.74099	CTT		0.383	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			Missense_Mutation
SORBS1	10580	genome.wustl.edu	37	10	97135772	97135772	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1469-01	TCGA-24-1469-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr10:97135772T>A	ENST00000361941.3	-	17	1721	c.1695A>T	c.(1693-1695)gaA>gaT	p.E565D	SORBS1_ENST00000393949.1_Missense_Mutation_p.E535D|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000371239.1_Missense_Mutation_p.E364D|SORBS1_ENST00000607232.1_Missense_Mutation_p.E354D|SORBS1_ENST00000371247.2_Missense_Mutation_p.E565D|SORBS1_ENST00000371245.3_Missense_Mutation_p.E450D|SORBS1_ENST00000277982.5_Missense_Mutation_p.E587D|SORBS1_ENST00000371246.2_Missense_Mutation_p.E587D|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000353505.5_Missense_Mutation_p.E450D|SORBS1_ENST00000354106.3_Missense_Mutation_p.E535D|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000347291.4_Missense_Mutation_p.E433D|SORBS1_ENST00000371227.4_Missense_Mutation_p.E519D	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TATACCAAGGTTCATTCTTTA	0.368																																																0			10											86.0	88.0	88.0					10																	97135772		2203	4300	6503	97125762	SO:0001583	missense	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1695A>T	10.37:g.97135772T>A	ENSP00000355136:p.Glu565Asp	Somatic		Capture	Illumina GAIIx	4	97125762		Missense_Mutation	SNP	ENST00000361941.3	37	CCDS31255.1	SNP	60	WashU	.	.	.	.	.	.	.	.	.	.	T	17.76	3.469478	0.63625	.	.	ENSG00000095637	ENST00000371245;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.66	5.66	0.87406	.	0.000000	0.37393	N	0.002114	T	0.41880	0.1178	L	0.28400	0.85	0.51767	D	0.999936	B;P;P;B;P;B	0.51240	0.095;0.911;0.943;0.186;0.454;0.158	B;P;B;B;B;B	0.44359	0.042;0.447;0.253;0.132;0.137;0.042	T	0.33189	-0.9878	10	0.44086	T	0.13	-14.9202	15.8933	0.79318	0.0:0.0:0.0:1.0	.	519;450;565;587;433;535	Q9BX66-11;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5	.;.;SRBS1_HUMAN;.;.;.	D	450;565;519;587;535;450;433;565;587;535;364	ENSP00000360291:E450D;ENSP00000360293:E565D;ENSP00000360271:E519D;ENSP00000360292:E587D;ENSP00000377521:E535D;ENSP00000343998:E450D;ENSP00000277985:E433D;ENSP00000355136:E565D;ENSP00000277982:E587D;ENSP00000277984:E535D;ENSP00000360283:E364D	ENSP00000277982:E587D	E	-	3	2	SORBS1	97125762	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.269000	0.51592	2.158000	0.67659	0.533000	0.62120	GAA		0.368	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			Missense_Mutation
TRRAP	8295	genome.wustl.edu	37	7	98553771	98553771	+	Silent	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr7:98553771G>A	ENST00000359863.4	+	41	6128	c.5919G>A	c.(5917-5919)gtG>gtA	p.V1973V	TRRAP_ENST00000446306.3_Silent_p.V1954V|TRRAP_ENST00000355540.3_Silent_p.V1955V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1973					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.V1955V(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTCCGCAGGTGTACTACCCGG	0.652																																																1	Substitution - coding silent(1)	ovary(1)	7											48.0	41.0	43.0					7																	98553771		2203	4300	6503	98391707	SO:0001819	synonymous_variant	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5919G>A	7.37:g.98553771G>A		Somatic		Capture	Illumina GAIIx	4	98391707	A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	CCDS59066.1	SNP	48	WashU	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717276	0.30413	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.26	3.14	0.36123	.	.	.	.	.	T	0.56543	0.1992	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52793	-0.8528	4	.	.	.	.	7.766	0.28980	0.0:0.1155:0.4901:0.3944	.	.	.	.	Y	1695	.	.	C	+	2	0	TRRAP	98391707	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	2.963000	0.49184	1.338000	0.45544	0.561000	0.74099	TGT		0.652	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		Silent
XPA	7507	genome.wustl.edu	37	9	100461723	100461723	+	5'Flank	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr9:100461723C>T	ENST00000375128.4	-	0	0				AL445531.1_ENST00000582499.1_RNA	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A						DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				GCTGGCCATGCGCCAGTCTGT	0.527			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"""xeroderma pigmentosum, complementation group A"""		E	0			9																																								99501544	SO:0001631	upstream_gene_variant	392371	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330		9.37:g.100461723C>T	Exception_encountered	Somatic		Capture	Illumina GAIIx	4	99501544	Q5T1U9|Q6LCW7|Q6LD02	Missense_Mutation	SNP	ENST00000375128.4	37	CCDS6729.1	SNP	27	WashU																																																																																				0.527	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380		Missense_Mutation
AZGP1P2	401393	genome.wustl.edu	37	7	100930881	100930881	+	IGR	SNP	A	A	G			TCGA-24-1469-01	TCGA-24-1469-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr7:100930881A>G								RNU6-1104P (17559 upstream) : RP11-132A1.3 (12012 downstream)																							ACGTGTCTCCATGGTCCCAGG	0.547																																																0			7																																								100717601	SO:0001628	intergenic_variant	401393																															7.37:g.100930881A>G		Somatic		Capture	Illumina GAIIx	4	100717601		Missense_Mutation	SNP		37		SNP	8	WashU																																																																																			0	0.547									Missense_Mutation
COL15A1	1306	genome.wustl.edu	37	9	101767281	101767281	+	Silent	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr9:101767281G>A	ENST00000375001.3	+	9	1725	c.1302G>A	c.(1300-1302)ggG>ggA	p.G434G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	434	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.G434G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGGCCCCCGGGGAGCTGGACC	0.627																																																1	Substitution - coding silent(1)	ovary(1)	9											57.0	57.0	57.0					9																	101767281		2203	4300	6503	100807102	SO:0001819	synonymous_variant	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1302G>A	9.37:g.101767281G>A		Somatic		Capture	Illumina GAIIx	4	100807102	Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	CCDS35081.1	SNP	43	WashU																																																																																				0.627	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		Silent
SIM1	6492	genome.wustl.edu	37	6	100838801	100838801	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr6:100838801C>G	ENST00000369208.3	-	12	2519	c.1737G>C	c.(1735-1737)gaG>gaC	p.E579D	SIM1_ENST00000262901.4_Missense_Mutation_p.E579D			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	579	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.E579E(1)|p.E579D(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTAATCTGTTCTCTTCTTCTT	0.448																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	6											87.0	86.0	86.0					6																	100838801		2203	4300	6503	100945522	SO:0001583	missense	6492			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1737G>C	6.37:g.100838801C>G	ENSP00000358210:p.Glu579Asp	Somatic		Capture	Illumina GAIIx	4	100945522	Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	CCDS5045.1	SNP	32	WashU	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197944	0.38806	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.39056	1.1;1.1	5.82	5.82	0.92795	Single-minded, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.23846	0.0577	L	0.27053	0.805	0.50039	D	0.999842	P	0.52463	0.953	P	0.49752	0.621	T	0.05305	-1.0893	10	0.39692	T	0.17	.	7.6368	0.28272	0.0:0.8075:0.0:0.1925	.	579	P81133	SIM1_HUMAN	D	579	ENSP00000358210:E579D;ENSP00000262901:E579D	ENSP00000262901:E579D	E	-	3	2	SIM1	100945522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.723000	0.25939	2.759000	0.94783	0.557000	0.71058	GAG		0.448	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		Missense_Mutation
BIRC3	330	genome.wustl.edu	37	11	102195609	102195609	+	Silent	SNP	A	A	G			TCGA-24-1469-01	TCGA-24-1469-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr11:102195609A>G	ENST00000263464.3	+	2	3119	c.369A>G	c.(367-369)tcA>tcG	p.S123S	BIRC3_ENST00000532808.1_Silent_p.S123S	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	123					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S123S(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		CCACACACTCATTACTTCCGG	0.408			T	MALT1	MALT																																		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	1	Substitution - coding silent(1)	ovary(1)	11											170.0	179.0	176.0					11																	102195609		2203	4299	6502	101700819	SO:0001819	synonymous_variant	330			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.369A>G	11.37:g.102195609A>G		Somatic		Capture	Illumina GAIIx	4	101700819	Q16628|Q9HC27|Q9UP46	Silent	SNP	ENST00000263464.3	37	CCDS8315.1	SNP	8	WashU																																																																																				0.408	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		Silent
DYNC2H1	79659	genome.wustl.edu	37	11	103075606	103075606	+	Silent	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr11:103075606C>T	ENST00000375735.2	+	52	8511	c.8367C>T	c.(8365-8367)ttC>ttT	p.F2789F	DYNC2H1_ENST00000398093.3_Silent_p.F2789F|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2789	AAA 4. {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.F222F(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)		ATTCAAACTTCATGATAAACT	0.338																																																1	Substitution - coding silent(1)	ovary(1)	11											57.0	54.0	55.0					11																	103075606		1826	4086	5912	102580816	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.8367C>T	11.37:g.103075606C>T		Somatic		Capture	Illumina GAIIx	4	102580816	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	CCDS53701.1	SNP	29	WashU																																																																																				0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		Silent
POLR3B	55703	genome.wustl.edu	37	12	106757662	106757662	+	Silent	SNP	G	G	T			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr12:106757662G>T	ENST00000228347.4	+	2	309	c.87G>T	c.(85-87)ctG>ctT	p.L29L	POLR3B_ENST00000539066.1_5'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	29					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L29L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AATGGAGGCTGCTTCCAGCAT	0.284																																																1	Substitution - coding silent(1)	ovary(1)	12											73.0	75.0	74.0					12																	106757662		2203	4296	6499	105281792	SO:0001819	synonymous_variant	55703			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.87G>T	12.37:g.106757662G>T		Somatic		Capture	Illumina GAIIx	4	105281792	A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	CCDS9105.1	SNP	46	WashU																																																																																				0.284	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		Silent
CCDC138	165055	genome.wustl.edu	37	2	109432460	109432460	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01	TCGA-24-1469-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr2:109432460C>G	ENST00000295124.4	+	10	1165	c.1105C>G	c.(1105-1107)Cat>Gat	p.H369D	CCDC138_ENST00000412964.2_Missense_Mutation_p.H369D	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	369								p.H369D(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TTCGGATCATCATCTTAGCAA	0.338																																																1	Substitution - Missense(1)	ovary(1)	2											102.0	104.0	103.0					2																	109432460		2203	4300	6503	108798892	SO:0001583	missense	165055			AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.1105C>G	2.37:g.109432460C>G	ENSP00000295124:p.His369Asp	Somatic		Capture	Illumina GAIIx	4	108798892	Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	CCDS2080.1	SNP	29	WashU	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.89|18.89	3.718548|3.718548	0.68844|0.68844	.|.	.|.	ENSG00000163006|ENSG00000163006	ENST00000412964;ENST00000295124|ENST00000456512	T;T|.	0.34472|.	1.36;1.38|.	6.07|6.07	5.2|5.2	0.72013|0.72013	.|.	0.205916|.	0.42821|.	D|.	0.000653|.	T|T	0.60090|0.60090	0.2242|0.2242	M|M	0.67953|0.67953	2.075|2.075	0.33926|0.33926	D|D	0.641527|0.641527	P;D|.	0.56287|.	0.952;0.975|.	P;P|.	0.53146|.	0.605;0.719|.	T|T	0.70988|0.70988	-0.4722|-0.4722	10|5	0.66056|.	D|.	0.02|.	-1.5904|-1.5904	9.8549|9.8549	0.41079|0.41079	0.0:0.786:0.1399:0.074|0.0:0.786:0.1399:0.074	.|.	369;369|.	Q96M89-2;Q96M89|.	.;CC138_HUMAN|.	D|M	369|265	ENSP00000411800:H369D;ENSP00000295124:H369D|.	ENSP00000295124:H369D|.	H|I	+|+	1|3	0|3	CCDC138|CCDC138	108798892|108798892	0.964000|0.964000	0.33143|0.33143	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.945000|0.945000	0.29056|0.29056	1.567000|1.567000	0.49668|0.49668	0.655000|0.655000	0.94253|0.94253	CAT|ATC		0.338	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		Missense_Mutation
PAK3	5063	genome.wustl.edu	37	X	110366477	110366477	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chrX:110366477G>T	ENST00000372010.1	+	5	588	c.146G>T	c.(145-147)cGc>cTc	p.R49L	PAK3_ENST00000425146.1_Missense_Mutation_p.R49L|PAK3_ENST00000519681.1_Missense_Mutation_p.R49L|PAK3_ENST00000262836.4_Missense_Mutation_p.R49L|PAK3_ENST00000518291.1_Missense_Mutation_p.R49L|PAK3_ENST00000360648.4_Missense_Mutation_p.R49L|PAK3_ENST00000446737.1_Missense_Mutation_p.R49L|PAK3_ENST00000372007.5_Missense_Mutation_p.R49L|PAK3_ENST00000417227.1_Missense_Mutation_p.R49L			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	49					activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R49L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GCCAGGCTTCGCTCTATCTTC	0.448										TSP Lung(19;0.15)																																						1	Substitution - Missense(1)	ovary(1)	X											86.0	84.0	85.0					X																	110366477		2203	4300	6503	110253133	SO:0001583	missense	5063			AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.146G>T	X.37:g.110366477G>T	ENSP00000361080:p.Arg49Leu	Somatic		Capture	Illumina GAIIx	4	110253133	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	CCDS48153.1	SNP	38	WashU	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702237	0.30232	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.58;-0.57;-0.6;-0.54;-0.54;-0.57;-0.58	5.39	5.39	0.77823	.	0.118708	0.64402	D	0.000018	T	0.61640	0.2363	L	0.38838	1.175	0.80722	D	1	B;B;B;B	0.25521	0.0;0.128;0.001;0.0	B;B;B;B	0.26202	0.006;0.067;0.003;0.004	T	0.58070	-0.7701	10	0.09843	T	0.71	.	18.4314	0.90627	0.0:0.0:1.0:0.0	.	49;49;49;49	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	L	49	ENSP00000410853:R49L;ENSP00000401982:R49L;ENSP00000361080:R49L;ENSP00000429113:R49L;ENSP00000361077:R49L;ENSP00000428921:R49L;ENSP00000353864:R49L;ENSP00000389172:R49L;ENSP00000262836:R49L	ENSP00000262836:R49L	R	+	2	0	PAK3	110253133	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.143000	0.94623	2.380000	0.81148	0.600000	0.82982	CGC		0.448	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		Missense_Mutation
PTPN3	5774	genome.wustl.edu	37	9	112168801	112168801	+	Missense_Mutation	SNP	A	A	C	rs146077461		TCGA-24-1469-01	TCGA-24-1469-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr9:112168801A>C	ENST00000374541.2	-	18	1837	c.1733T>G	c.(1732-1734)tTc>tGc	p.F578C	PTPN3_ENST00000394827.3_Missense_Mutation_p.F46C|PTPN3_ENST00000446349.1_Missense_Mutation_p.F402C|PTPN3_ENST00000412145.1_Missense_Mutation_p.F447C|PTPN3_ENST00000262539.3_Missense_Mutation_p.F424C	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	578	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.F578C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGCTTTGATGAACATCACCAC	0.572																																																1	Substitution - Missense(1)	ovary(1)	9											175.0	159.0	164.0					9																	112168801		2203	4300	6503	111208622	SO:0001583	missense	5774				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1733T>G	9.37:g.112168801A>C	ENSP00000363667:p.Phe578Cys	Somatic		Capture	Illumina GAIIx	4	111208622	A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	CCDS6776.1	SNP	9	WashU	.	.	.	.	.	.	.	.	.	.	A	32	5.176160	0.94846	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.74	5.74	0.90152	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	M	0.63208	1.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.99;0.992	T	0.56848	-0.7911	10	0.87932	D	0	.	16.0229	0.80512	1.0:0.0:0.0:0.0	.	424;533;578	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	C	578;447;402;578;46;424	ENSP00000416654:F447C;ENSP00000395384:F402C;ENSP00000363667:F578C;ENSP00000378304:F46C;ENSP00000262539:F424C	ENSP00000262539:F424C	F	-	2	0	PTPN3	111208622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.417000	0.80156	2.189000	0.69895	0.459000	0.35465	TTC		0.572	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			Missense_Mutation
ADORA3	140	genome.wustl.edu	37	1	112043007	112043007	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr1:112043007C>A	ENST00000241356.4	-	2	927	c.522G>T	c.(520-522)atG>atT	p.M174I	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000486342.1_5'Flank	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	174					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.M174I(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	CCATGTAGTCCATTCTCATGA	0.448																																																1	Substitution - Missense(1)	ovary(1)	1											157.0	144.0	149.0					1																	112043007		2203	4300	6503	111844530	SO:0001583	missense	140			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.522G>T	1.37:g.112043007C>A	ENSP00000241356:p.Met174Ile	Somatic		Capture	Illumina GAIIx	4	111844530	A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	37	CCDS839.1	SNP	21	WashU	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979606	0.53827	.	.	ENSG00000121933	ENST00000241356	T	0.36157	1.27	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.28532	0.0706	L	0.45285	1.41	0.40145	D	0.976884	B	0.28178	0.202	B	0.39152	0.292	T	0.11817	-1.0572	9	0.38643	T	0.18	.	18.2733	0.90074	0.0:1.0:0.0:0.0	.	174	P33765	AA3R_HUMAN	I	174	ENSP00000241356:M174I	ENSP00000241356:M174I	M	-	3	0	ADORA3	111844530	1.000000	0.71417	0.998000	0.56505	0.707000	0.40811	4.887000	0.63156	2.483000	0.83821	0.655000	0.94253	ATG		0.448	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		Missense_Mutation
PPP1R3A	5506	genome.wustl.edu	37	7	113558584	113558584	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1469-01	TCGA-24-1469-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr7:113558584T>A	ENST00000284601.3	-	1	536	c.468A>T	c.(466-468)ttA>ttT	p.L156F		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	156	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.L156F(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTACATATACTAACTTCTCAA	0.358																																																1	Substitution - Missense(1)	ovary(1)	7											81.0	80.0	80.0					7																	113558584		2203	4299	6502	113345820	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.468A>T	7.37:g.113558584T>A	ENSP00000284601:p.Leu156Phe	Somatic		Capture	Illumina GAIIx	4	113345820	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	SNP	53	WashU	.	.	.	.	.	.	.	.	.	.	T	11.17	1.559070	0.27827	.	.	ENSG00000154415	ENST00000284601	T	0.62639	0.01	6.17	5.03	0.67393	Putative phosphatase regulatory subunit (2);	0.328654	0.29940	N	0.010812	T	0.45094	0.1325	N	0.17631	0.505	0.36896	D	0.89016	B	0.34147	0.438	B	0.39119	0.291	T	0.47209	-0.9135	10	0.24483	T	0.36	-0.0861	5.1232	0.14871	0.1296:0.1771:0.0:0.6933	.	156	Q16821	PPR3A_HUMAN	F	156	ENSP00000284601:L156F	ENSP00000284601:L156F	L	-	3	2	PPP1R3A	113345820	0.922000	0.31269	1.000000	0.80357	0.986000	0.74619	0.443000	0.21644	1.161000	0.42604	0.533000	0.62120	TTA		0.358	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		Missense_Mutation
UGCG	7357	genome.wustl.edu	37	9	114691947	114691947	+	Silent	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr9:114691947G>A	ENST00000374279.3	+	6	1176	c.726G>A	c.(724-726)gcG>gcA	p.A242A	MIR4668_ENST00000582284.1_RNA	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	242					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)	p.A242A(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TGGCCAAAGCGATAGCTGACC	0.363																																																1	Substitution - coding silent(1)	ovary(1)	9											159.0	150.0	153.0					9																	114691947		2203	4300	6503	113731768	SO:0001819	synonymous_variant	7357			D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"""Glycosyltransferase family 2 domain containing"""	12524	protein-coding gene	gene with protein product	"""glucosylceramide synthase"", ""ceramide glucosyltransferase"""	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.726G>A	9.37:g.114691947G>A		Somatic		Capture	Illumina GAIIx	4	113731768	Q5T258	Silent	SNP	ENST00000374279.3	37	CCDS6782.1	SNP	37	WashU																																																																																				0.363	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053661.1	NM_003358		Silent
FRK	2444	genome.wustl.edu	37	6	116325145	116325145	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1469-01	TCGA-24-1469-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr6:116325145T>C	ENST00000606080.1	-	2	807	c.361A>G	c.(361-363)Atc>Gtc	p.I121V	FRK_ENST00000538210.1_5'Flank	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	121	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.I121V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	GATCTTCCGATTGCTCCAAAG	0.343																																																1	Substitution - Missense(1)	ovary(1)	6											63.0	63.0	63.0					6																	116325145		2203	4299	6502	116431838	SO:0001583	missense	2444			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.361A>G	6.37:g.116325145T>C	ENSP00000476145:p.Ile121Val	Somatic		Capture	Illumina GAIIx	4	116431838	B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	CCDS5103.1	SNP	52	WashU	.	.	.	.	.	.	.	.	.	.	T	11.84	1.760154	0.31137	.	.	ENSG00000111816	ENST00000368626	D	0.91011	-2.77	5.97	4.81	0.61882	Src homology-3 domain (1);SH2 motif (4);	0.085603	0.47852	N	0.000220	T	0.81842	0.4908	M	0.64404	1.975	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.79067	-0.1955	10	0.44086	T	0.13	.	9.5024	0.39026	0.0:0.1432:0.0:0.8568	.	121	P42685	FRK_HUMAN	V	121	ENSP00000357615:I121V	ENSP00000357615:I121V	I	-	1	0	FRK	116431838	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	2.343000	0.44001	1.087000	0.41251	0.533000	0.62120	ATC		0.343	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		Missense_Mutation
CIT	11113	genome.wustl.edu	37	12	120210661	120210661	+	Silent	SNP	T	T	C			TCGA-24-1469-01	TCGA-24-1469-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr12:120210661T>C	ENST00000261833.7	-	17	2047	c.1995A>G	c.(1993-1995)gcA>gcG	p.A665A	CIT_ENST00000392521.2_Silent_p.A665A|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	665					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.A666A(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCGCTCCTTTGCCTGGCGGA	0.532																																																1	Substitution - coding silent(1)	ovary(1)	12											110.0	111.0	111.0					12																	120210661		2203	4300	6503	118695044	SO:0001819	synonymous_variant	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1995A>G	12.37:g.120210661T>C		Somatic		Capture	Illumina GAIIx	4	118695044	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	CCDS9192.1	SNP	63	WashU	.	.	.	.	.	.	.	.	.	.	T	10.08	1.251884	0.22880	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.96	-11.9	0.00025	.	.	.	.	.	T	0.56659	0.2000	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73139	-0.4077	4	.	.	.	.	14.0763	0.64891	0.0645:0.099:0.6342:0.2023	.	.	.	.	R	293	.	.	Q	-	2	0	CIT	118695044	0.128000	0.22383	0.190000	0.23270	0.969000	0.65631	-0.866000	0.04245	-3.322000	0.00187	-1.179000	0.01719	CAA		0.532	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		Silent
OR1N2	138882	genome.wustl.edu	37	9	125315585	125315585	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr9:125315585G>C	ENST00000373688.2	+	1	195	c.137G>C	c.(136-138)gGc>gCc	p.G46A		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G46A(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTTCTGTTTGGCATCTTCCTT	0.522																																																1	Substitution - Missense(1)	ovary(1)	9											154.0	136.0	142.0					9																	125315585		2203	4300	6503	124355406	SO:0001583	missense	138882				CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.137G>C	9.37:g.125315585G>C	ENSP00000362792:p.Gly46Ala	Somatic		Capture	Illumina GAIIx	4	124355406	A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	CCDS35123.1	SNP	42	WashU	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.862837	0.00552	.	.	ENSG00000171501	ENST00000373688	T	0.00420	7.47	4.37	3.48	0.39840	.	0.145629	0.31507	N	0.007526	T	0.00241	0.0007	N	0.20986	0.625	0.27535	N	0.950964	B	0.21753	0.06	B	0.22753	0.041	T	0.34950	-0.9808	10	0.36615	T	0.2	.	5.5408	0.17038	0.097:0.0:0.6003:0.3027	.	46	Q8NGR9	OR1N2_HUMAN	A	46	ENSP00000362792:G46A	ENSP00000362792:G46A	G	+	2	0	OR1N2	124355406	0.000000	0.05858	0.687000	0.30102	0.022000	0.10575	0.209000	0.17435	1.050000	0.40346	-0.143000	0.13931	GGC		0.522	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			Missense_Mutation
FAT4	79633	genome.wustl.edu	37	4	126329631	126329631	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr4:126329631G>A	ENST00000394329.3	+	4	5615	c.5602G>A	c.(5602-5604)Gat>Aat	p.D1868N	FAT4_ENST00000335110.5_Missense_Mutation_p.D166N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1868	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1868N(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCCACGGATGATGACTCTGG	0.328																																																2	Substitution - Missense(2)	ovary(2)	4											109.0	111.0	110.0					4																	126329631		2202	4300	6502	126549081	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5602G>A	4.37:g.126329631G>A	ENSP00000377862:p.Asp1868Asn	Somatic		Capture	Illumina GAIIx	4	126549081	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	SNP	45	WashU	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998369	0.35226	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.50548	0.74;0.74	5.03	4.13	0.48395	Cadherin (4);Cadherin-like (1);	0.000000	0.35320	U	0.003289	T	0.35068	0.0919	N	0.11756	0.17	0.37899	D	0.930976	P;B	0.35139	0.486;0.387	B;B	0.42462	0.268;0.388	T	0.28038	-1.0056	10	0.18710	T	0.47	.	14.8671	0.70425	0.0:0.1441:0.8559:0.0	.	166;1868	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	N	1868;166	ENSP00000377862:D1868N;ENSP00000335169:D166N	ENSP00000335169:D166N	D	+	1	0	FAT4	126549081	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.478000	0.60230	2.337000	0.79520	0.591000	0.81541	GAT		0.328	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		Missense_Mutation
RBM28	55131	genome.wustl.edu	37	7	127953310	127953310	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1469-01	TCGA-24-1469-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr7:127953310T>C	ENST00000223073.2	-	18	2177	c.2063A>G	c.(2062-2064)aAa>aGa	p.K688R	RBM28_ENST00000415472.2_Missense_Mutation_p.K547R|RBM28_ENST00000481788.1_5'UTR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	688					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K688R(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GGGCTTCACTTTGCCTTTGTC	0.498																																																1	Substitution - Missense(1)	ovary(1)	7											267.0	224.0	239.0					7																	127953310		2203	4300	6503	127740546	SO:0001583	missense	55131			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.2063A>G	7.37:g.127953310T>C	ENSP00000223073:p.Lys688Arg	Somatic		Capture	Illumina GAIIx	4	127740546	A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	CCDS5801.1	SNP	64	WashU	.	.	.	.	.	.	.	.	.	.	T	12.34	1.909526	0.33721	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.25085	2.7;1.82	5.78	4.62	0.57501	.	0.095136	0.64402	N	0.000001	T	0.26304	0.0642	M	0.68952	2.095	0.45837	D	0.998703	B;B;B	0.28552	0.053;0.007;0.215	B;B;B	0.25405	0.038;0.007;0.06	T	0.03306	-1.1050	10	0.34782	T	0.22	-11.2624	10.0755	0.42358	0.0:0.0796:0.0:0.9204	.	547;688;547	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	R	688;547	ENSP00000223073:K688R;ENSP00000390517:K547R	ENSP00000223073:K688R	K	-	2	0	RBM28	127740546	1.000000	0.71417	0.996000	0.52242	0.431000	0.31685	3.320000	0.51991	1.015000	0.39444	0.533000	0.62120	AAA		0.498	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		Missense_Mutation
MYB	4602	genome.wustl.edu	37	6	135521506	135521506	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01	TCGA-24-1469-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr6:135521506G>C	ENST00000367814.4	+	12	1726	c.1540G>C	c.(1540-1542)Gag>Cag	p.E514Q	MYB_ENST00000442647.2_Missense_Mutation_p.E511Q|MYB_ENST00000316528.8_Missense_Mutation_p.E514Q|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534044.1_Missense_Mutation_p.E514Q|MYB_ENST00000534121.1_Missense_Mutation_p.E619Q|MYB_ENST00000341911.5_Missense_Mutation_p.E635Q|MYB_ENST00000525369.1_Missense_Mutation_p.E429Q|MYB_ENST00000528774.1_Missense_Mutation_p.E632Q|MYB_ENST00000527615.1_Missense_Mutation_p.E514Q|MYB_ENST00000533624.1_Missense_Mutation_p.E479Q	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	514					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E514Q(1)|p.E635Q(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AATTGTTGCTGAGTTTCAAGA	0.428			T	NFIB	adenoid cystic carcinoma																																		Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	2	Substitution - Missense(2)	ovary(2)	6											113.0	112.0	112.0					6																	135521506		2203	4300	6503	135563199	SO:0001583	missense	4602				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1540G>C	6.37:g.135521506G>C	ENSP00000356788:p.Glu514Gln	Somatic		Capture	Illumina GAIIx	4	135563199	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	CCDS5174.1	SNP	45	WashU	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895134	0.72639	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	T;T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	4.76	4.76	0.60689	C-myb, C-terminal (1);	0.341093	0.30869	N	0.008709	T	0.27384	0.0672	L	0.47716	1.5	0.27185	N	0.96056	B;P;B;B;B;B;B;B;P	0.37636	0.428;0.603;0.437;0.428;0.157;0.428;0.374;0.301;0.603	B;P;B;P;B;P;B;B;P	0.48166	0.27;0.462;0.187;0.569;0.104;0.569;0.264;0.209;0.462	T	0.29427	-1.0012	10	0.12430	T	0.62	-7.577	18.1285	0.89593	0.0:0.0:1.0:0.0	.	479;514;511;632;429;619;635;514;514	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	Q	635;511;514;514;514;514;429;632;619;514;479	ENSP00000339992:E635Q;ENSP00000410825:E511Q;ENSP00000326328:E514Q;ENSP00000356788:E514Q;ENSP00000433227:E514Q;ENSP00000435938:E429Q;ENSP00000434723:E632Q;ENSP00000432851:E619Q;ENSP00000435055:E514Q;ENSP00000436605:E479Q	ENSP00000237302:E514Q	E	+	1	0	MYB	135563199	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.506000	0.81665	2.363000	0.80096	0.655000	0.94253	GAG		0.428	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			Missense_Mutation
CEP63	80254	genome.wustl.edu	37	3	134256056	134256056	+	Silent	SNP	A	A	T			TCGA-24-1469-01	TCGA-24-1469-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr3:134256056A>T	ENST00000337090.3	+	6	674	c.501A>T	c.(499-501)gtA>gtT	p.V167V	CEP63_ENST00000354446.3_Silent_p.V167V|CEP63_ENST00000383229.3_Silent_p.V167V|CEP63_ENST00000606977.1_Silent_p.V167V|CEP63_ENST00000332047.5_Silent_p.V167V|CEP63_ENST00000513612.2_Silent_p.V167V			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	167					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)		p.V167V(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGCAACAGGTATCTTCACTGG	0.423																																																1	Substitution - coding silent(1)	ovary(1)	3											112.0	114.0	114.0					3																	134256056		2203	4300	6503	135738746	SO:0001819	synonymous_variant	80254			AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.501A>T	3.37:g.134256056A>T		Somatic		Capture	Illumina GAIIx	4	135738746	D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Silent	SNP	ENST00000337090.3	37	CCDS3086.1	SNP	16	WashU																																																																																				0.423	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		Silent
CHRM2	1129	genome.wustl.edu	37	7	136699656	136699656	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr7:136699656C>G	ENST00000445907.2	+	3	572	c.44C>G	c.(43-45)aCa>aGa	p.T15R	hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.T15R|CHRM2_ENST00000401861.1_Missense_Mutation_p.T15R|CHRM2_ENST00000397608.3_Missense_Mutation_p.T15R|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.T15R|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.T15R|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000597642.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	15					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.T15R(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CTGGCTCTTACAAGTCCTTAT	0.398																																																1	Substitution - Missense(1)	ovary(1)	7											100.0	99.0	99.0					7																	136699656		2203	4300	6503	136350196	SO:0001583	missense	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.44C>G	7.37:g.136699656C>G	ENSP00000399745:p.Thr15Arg	Somatic		Capture	Illumina GAIIx	4	136350196	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	SNP	17	WashU	.	.	.	.	.	.	.	.	.	.	C	0.462	-0.888504	0.02511	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.33	2.32	0.28847	.	0.788603	0.11693	N	0.538671	T	0.16428	0.0395	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.22591	-1.0212	10	0.13853	T	0.58	-8.0095	11.8381	0.52338	0.1273:0.4324:0.4402:0.0	.	15	P08172	ACM2_HUMAN	R	15	ENSP00000399745:T15R;ENSP00000415386:T15R;ENSP00000319984:T15R;ENSP00000380733:T15R;ENSP00000384937:T15R;ENSP00000384401:T15R	ENSP00000319984:T15R	T	+	2	0	CHRM2	136350196	0.749000	0.28305	0.996000	0.52242	0.806000	0.45545	-0.067000	0.11579	0.614000	0.30107	-1.250000	0.01514	ACA		0.398	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			Missense_Mutation
CHRM2	1129	genome.wustl.edu	37	7	136700773	136700773	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr7:136700773G>T	ENST00000445907.2	+	3	1689	c.1161G>T	c.(1159-1161)agG>agT	p.R387S	hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.R387S|CHRM2_ENST00000401861.1_Missense_Mutation_p.R387S|CHRM2_ENST00000397608.3_Missense_Mutation_p.R387S|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.R387S|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.R387S|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000597642.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	387					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.R387S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AAGTCACCAGGACAATCTTGG	0.463																																																1	Substitution - Missense(1)	ovary(1)	7											136.0	125.0	129.0					7																	136700773		2203	4300	6503	136351313	SO:0001583	missense	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1161G>T	7.37:g.136700773G>T	ENSP00000399745:p.Arg387Ser	Somatic		Capture	Illumina GAIIx	4	136351313	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	SNP	41	WashU	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219146	0.58560	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2	5.67	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	M	0.91510	3.215	0.80722	D	1	D	0.69078	0.997	D	0.71656	0.974	T	0.75482	-0.3302	10	0.62326	D	0.03	-11.4336	14.8105	0.69992	0.069:0.0:0.931:0.0	.	387	P08172	ACM2_HUMAN	S	387	ENSP00000399745:R387S;ENSP00000415386:R387S;ENSP00000319984:R387S;ENSP00000380733:R387S;ENSP00000384937:R387S;ENSP00000384401:R387S	ENSP00000319984:R387S	R	+	3	2	CHRM2	136351313	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.180000	0.58296	1.402000	0.46780	0.655000	0.94253	AGG		0.463	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			Missense_Mutation
STAG1	10274	genome.wustl.edu	37	3	136068048	136068048	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr3:136068048C>G	ENST00000383202.2	-	29	3479	c.3223G>C	c.(3223-3225)Gta>Cta	p.V1075L	STAG1_ENST00000236698.5_Missense_Mutation_p.V1075L|STAG1_ENST00000434713.2_Missense_Mutation_p.V815L|STAG1_ENST00000536929.1_Missense_Mutation_p.V659L	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1075					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.V1075L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTATTCCTTACTGATGAGGTT	0.393																																																1	Substitution - Missense(1)	ovary(1)	3											148.0	132.0	138.0					3																	136068048		2203	4300	6503	137550738	SO:0001583	missense	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3223G>C	3.37:g.136068048C>G	ENSP00000372689:p.Val1075Leu	Somatic		Capture	Illumina GAIIx	4	137550738	O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	CCDS3090.1	SNP	20	WashU	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657050	0.67586	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.32515	1.87;1.88;1.77;1.45	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	L	0.44542	1.39	0.80722	D	1	B;B	0.21753	0.06;0.028	B;B	0.25291	0.059;0.043	T	0.03344	-1.1046	10	0.29301	T	0.29	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1075;1075	Q6P275;Q8WVM7	.;STAG1_HUMAN	L	1075;1075;815;659	ENSP00000372689:V1075L;ENSP00000236698:V1075L;ENSP00000404396:V815L;ENSP00000445787:V659L	ENSP00000236698:V1075L	V	-	1	0	STAG1	137550738	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.052000	0.71080	2.884000	0.98904	0.655000	0.94253	GTA		0.393	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		Missense_Mutation
PCDHA5	56143	genome.wustl.edu	37	5	140202551	140202551	+	Silent	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr5:140202551G>A	ENST00000529859.1	+	1	1191	c.1191G>A	c.(1189-1191)gtG>gtA	p.V397V	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.V397V|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.V397V|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V397V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAGCTGGTGTCCACCTTCA	0.612																																																1	Substitution - coding silent(1)	ovary(1)	5											147.0	134.0	139.0					5																	140202551		2203	4300	6503	140182735	SO:0001819	synonymous_variant	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1191G>A	5.37:g.140202551G>A		Somatic		Capture	Illumina GAIIx	4	140182735	O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	CCDS54917.1	SNP	48	WashU																																																																																				0.612	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		Silent
HDAC3	8841	genome.wustl.edu	37	5	141008824	141008824	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01	TCGA-24-1469-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr5:141008824C>G	ENST00000305264.3	-	7	605	c.526G>C	c.(526-528)Ggg>Cgg	p.G176R	AC008781.7_ENST00000422040.2_RNA	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	176	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.G176R(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	TCTTGAACCCCGTCACCATGG	0.527																																																1	Substitution - Missense(1)	ovary(1)	5											127.0	114.0	118.0					5																	141008824		2203	4300	6503	140989008	SO:0001583	missense	8841			AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.526G>C	5.37:g.141008824C>G	ENSP00000302967:p.Gly176Arg	Somatic		Capture	Illumina GAIIx	4	140989008	D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	ENST00000305264.3	37	CCDS4264.1	SNP	23	WashU	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428268	0.83667	.	.	ENSG00000171720	ENST00000305264;ENST00000523088	D;D	0.96992	-4.2;-1.92	5.72	5.72	0.89469	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.99168	0.9712	H	0.99444	4.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98722	1.0709	10	0.87932	D	0	-16.636	19.4703	0.94961	0.0:1.0:0.0:0.0	.	101;176	E7ESJ6;O15379	.;HDAC3_HUMAN	R	176;101	ENSP00000302967:G176R;ENSP00000429099:G101R	ENSP00000302967:G176R	G	-	1	0	HDAC3	140989008	1.000000	0.71417	0.290000	0.24890	0.819000	0.46315	7.794000	0.85869	2.711000	0.92665	0.655000	0.94253	GGG		0.527	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2	NM_003883		Missense_Mutation
SPRY4	81848	genome.wustl.edu	37	5	141694585	141694585	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr5:141694585C>A	ENST00000434127.2	-	2	332	c.89G>T	c.(88-90)cGg>cTg	p.R30L	SPRY4_ENST00000344120.4_Missense_Mutation_p.R53L|SPRY4_ENST00000503582.1_5'Flank	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	30					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.R53L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGGAGCCGGCTGTGGGA	0.617									Testicular Cancer, Familial Clustering of																																							1	Substitution - Missense(1)	ovary(1)	5											31.0	32.0	32.0					5																	141694585		2154	4250	6404	141674769	SO:0001583	missense	81848	Familial Cancer Database		AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.89G>T	5.37:g.141694585C>A	ENSP00000399468:p.Arg30Leu	Somatic		Capture	Illumina GAIIx	4	141674769	A4FVB2|A4FVB3|Q6QIX2|Q9C003	Missense_Mutation	SNP	ENST00000434127.2	37	CCDS47296.1	SNP	23	WashU	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493154	0.84962	.	.	ENSG00000187678	ENST00000344120;ENST00000434127;ENST00000359661;ENST00000511815	T;T	0.69175	-0.38;-0.34	5.77	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.78941	0.4363	M	0.63843	1.955	0.58432	D	0.999996	D;D	0.76494	0.999;0.996	D;D	0.72075	0.976;0.924	T	0.80804	-0.1219	10	0.62326	D	0.03	-23.2798	14.5431	0.68011	0.0:0.9299:0.0:0.0701	.	30;30	Q9C004-2;Q9C004	.;SPY4_HUMAN	L	53;30;30;30	ENSP00000344967:R53L;ENSP00000399468:R30L	ENSP00000344967:R53L	R	-	2	0	SPRY4	141674769	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.751000	0.68720	1.445000	0.47624	0.561000	0.74099	CGG		0.617	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			Missense_Mutation
PDGFRB	5159	genome.wustl.edu	37	5	149500492	149500492	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr5:149500492G>C	ENST00000261799.4	-	18	3014	c.2545C>G	c.(2545-2547)Cga>Gga	p.R849G		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	849	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.R849G(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGATGTCTCGAGCCAGGCCA	0.587			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																		Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	1	Substitution - Missense(1)	ovary(1)	5											138.0	118.0	125.0					5																	149500492		2203	4300	6503	149480685	SO:0001583	missense	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2545C>G	5.37:g.149500492G>C	ENSP00000261799:p.Arg849Gly	Somatic		Capture	Illumina GAIIx	4	149480685	B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	CCDS4303.1	SNP	37	WashU	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335275	0.81801	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.85171	-1.95	5.03	5.03	0.67393	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43747	D	0.000524	D	0.91175	0.7220	M	0.74258	2.255	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.988	D	0.91750	0.5411	10	0.87932	D	0	.	12.0371	0.53431	0.0:0.0:0.7082:0.2918	.	849;849	A8KAM8;P09619	.;PGFRB_HUMAN	G	849;519	ENSP00000261799:R849G	ENSP00000261799:R849G	R	-	1	2	PDGFRB	149480685	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	1.711000	0.37930	2.504000	0.84457	0.655000	0.94253	CGA		0.587	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		Missense_Mutation
NUP210L	91181	genome.wustl.edu	37	1	154127401	154127401	+	Silent	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr1:154127401G>A	ENST00000368559.3	-	1	191	c.120C>T	c.(118-120)aaC>aaT	p.N40N	TPM3_ENST00000469717.1_5'Flank|NUP210L_ENST00000271854.3_Silent_p.N40N	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	40					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCTGTGGCACGTTAAGTTTGT	0.602																																																0			1											45.0	52.0	50.0					1																	154127401		1965	4140	6105	152394025	SO:0001819	synonymous_variant	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.120C>T	1.37:g.154127401G>A		Somatic		Capture	Illumina GAIIx	4	152394025	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	CCDS41399.1	SNP	40	WashU																																																																																				0.602	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		Silent
G6PD	2539	genome.wustl.edu	37	X	153762658	153762658	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chrX:153762658G>A	ENST00000393564.2	-	6	651	c.539C>T	c.(538-540)tCt>tTt	p.S180F	G6PD_ENST00000369620.2_Missense_Mutation_p.S180F|G6PD_ENST00000393562.2_Missense_Mutation_p.S210F|G6PD_ENST00000497281.1_5'Flank	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	180					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.S180F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGCCGGTCAGAGCTCTGCAG	0.617																																																1	Substitution - Missense(1)	ovary(1)	X											89.0	74.0	79.0					X																	153762658		2203	4300	6503	153415852	SO:0001583	missense	2539			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.539C>T	X.37:g.153762658G>A	ENSP00000377194:p.Ser180Phe	Somatic		Capture	Illumina GAIIx	4	153415852	D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	SNP	33	WashU	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635713	0.67130	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03;-5.03	5.65	5.65	0.86999	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.000000	0.85682	D	0.000000	D	0.99067	0.9680	M	0.85197	2.74	0.80722	D	1	P;D	0.59357	0.954;0.985	D;D	0.63877	0.919;0.915	D	0.99552	1.0966	10	0.66056	D	0.02	.	15.9286	0.79644	0.0:0.0:1.0:0.0	.	180;210	P11413;P11413-3	G6PD_HUMAN;.	F	210;180;180;180;181;181;180	ENSP00000377192:S210F;ENSP00000377194:S180F;ENSP00000358633:S180F;ENSP00000395599:S181F;ENSP00000400648:S181F;ENSP00000394690:S180F	ENSP00000291567:S180F	S	-	2	0	G6PD	153415852	1.000000	0.71417	0.921000	0.36526	0.171000	0.22731	9.474000	0.97718	2.361000	0.80049	0.513000	0.50165	TCT		0.617	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		Missense_Mutation
MPP1	4354	genome.wustl.edu	37	X	154012325	154012325	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chrX:154012325C>G	ENST00000369534.3	-	8	990	c.843G>C	c.(841-843)aaG>aaC	p.K281N	MPP1_ENST00000462825.1_5'UTR|MPP1_ENST00000393531.1_Missense_Mutation_p.K261N|MPP1_ENST00000413259.3_Missense_Mutation_p.K251N	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	281	Interaction with MPP5.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.K281N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGGTCTTCCTCTTGAATGCAG	0.473																																																1	Substitution - Missense(1)	ovary(1)	X											131.0	84.0	100.0					X																	154012325		2203	4300	6503	153665519	SO:0001583	missense	4354				CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.843G>C	X.37:g.154012325C>G	ENSP00000358547:p.Lys281Asn	Somatic		Capture	Illumina GAIIx	4	153665519	B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	CCDS14762.1	SNP	32	WashU	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417142	0.42918	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531;ENST00000453245;ENST00000393529	T;T;T;T;T	0.32515	2.24;2.24;2.24;2.24;1.45	5.32	3.56	0.40772	Guanylate kinase/L-type calcium channel (1);	0.145710	0.64402	D	0.000011	T	0.30417	0.0764	L	0.61218	1.895	0.43342	D	0.995396	B;B;B;B	0.21753	0.035;0.022;0.018;0.06	B;B;B;B	0.26614	0.011;0.071;0.042;0.071	T	0.07443	-1.0772	10	0.54805	T	0.06	.	7.7908	0.29119	0.0:0.7325:0.0:0.2675	.	264;251;261;281	B4E325;B4DZV5;G3XAI1;Q00013	.;.;.;EM55_HUMAN	N	281;251;261;155;235	ENSP00000358547:K281N;ENSP00000400155:K251N;ENSP00000377165:K261N;ENSP00000410888:K155N;ENSP00000377163:K235N	ENSP00000358547:K281N	K	-	3	2	MPP1	153665519	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.538000	0.23160	0.471000	0.27319	0.529000	0.55759	AAG		0.473	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		Missense_Mutation
SPTA1	6708	genome.wustl.edu	37	1	158637649	158637649	+	Splice_Site	SNP	T	T	G			TCGA-24-1469-01	TCGA-24-1469-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr1:158637649T>G	ENST00000368147.4	-	15	2217	c.2037A>C	c.(2035-2037)aaA>aaC	p.K679N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	679					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.K679N(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTTTTTACCTTTCTGTTTTG	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											49.0	46.0	47.0					1																	158637649		1835	4082	5917	156904273	SO:0001630	splice_region_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2038+1A>C	1.37:g.158637649T>G		Somatic		Capture	Illumina GAIIx	4	156904273	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	SNP	56	WashU	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273616	0.59649	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53206	0.63;0.63	4.95	4.95	0.65309	.	0.236856	0.21826	N	0.068553	T	0.68174	0.2972	H	0.94385	3.53	0.51767	D	0.999938	D	0.69078	0.997	D	0.75484	0.986	T	0.76189	-0.3050	10	0.87932	D	0	.	8.2843	0.31920	0.0:0.0882:0.0:0.9118	.	679	P02549	SPTA1_HUMAN	N	679	ENSP00000357130:K679N;ENSP00000357129:K679N	ENSP00000357129:K679N	K	-	3	2	SPTA1	156904273	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	5.119000	0.64679	2.080000	0.62538	0.528000	0.53228	AAA		0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Missense_Mutation	Missense_Mutation
ATF6	22926	genome.wustl.edu	37	1	161821604	161821604	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1469-01	TCGA-24-1469-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr1:161821604T>C	ENST00000367942.3	+	11	1479	c.1412T>C	c.(1411-1413)aTt>aCt	p.I471T	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	471	Interaction with THBS4.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.I471T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	CAGCCCCTAATTAACACAACA	0.403																																																1	Substitution - Missense(1)	ovary(1)	1											222.0	202.0	209.0					1																	161821604		2203	4300	6503	160088228	SO:0001583	missense	22926			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1412T>C	1.37:g.161821604T>C	ENSP00000356919:p.Ile471Thr	Somatic		Capture	Illumina GAIIx	4	160088228	O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	CCDS1235.1	SNP	52	WashU	.	.	.	.	.	.	.	.	.	.	T	18.68	3.676585	0.67928	.	.	ENSG00000118217	ENST00000367942	T	0.19105	2.17	5.73	5.73	0.89815	.	0.168759	0.53938	D	0.000042	T	0.17492	0.0420	L	0.47716	1.5	0.37939	D	0.932257	D;P	0.54964	0.969;0.953	P;P	0.50109	0.585;0.631	T	0.02371	-1.1169	9	0.44086	T	0.13	-15.4816	13.9662	0.64209	0.0:0.0:0.0:1.0	.	471;472	P18850;Q59H30	ATF6A_HUMAN;.	T	471	ENSP00000356919:I471T	ENSP00000356919:I471T	I	+	2	0	ATF6	160088228	0.986000	0.35501	0.247000	0.24249	0.937000	0.57800	5.357000	0.66058	2.187000	0.69744	0.460000	0.39030	ATT		0.403	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		Missense_Mutation
FAP	2191	genome.wustl.edu	37	2	163074524	163074524	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr2:163074524G>A	ENST00000188790.4	-	9	941	c.734C>T	c.(733-735)cCt>cTt	p.P245L	FAP_ENST00000443424.1_Missense_Mutation_p.P220L	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.P245L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TATTGTTCTAGGATATTGTTC	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											100.0	104.0	103.0					2																	163074524		2203	4300	6503	162782770	SO:0001583	missense	2191			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.734C>T	2.37:g.163074524G>A	ENSP00000188790:p.Pro245Leu	Somatic		Capture	Illumina GAIIx	4	162782770		Missense_Mutation	SNP	ENST00000188790.4	37	CCDS33311.1	SNP	35	WashU	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612561	0.87258	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.39787	1.23;1.06	5.74	5.74	0.90152	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75583	0.3869	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	0.971;1.0;1.0	D;D;D	0.97110	0.93;0.999;1.0	T	0.81113	-0.1080	10	0.87932	D	0	-24.7408	20.2982	0.98569	0.0:0.0:1.0:0.0	.	220;245;245	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	L	245;220	ENSP00000188790:P245L;ENSP00000411391:P220L	ENSP00000188790:P245L	P	-	2	0	FAP	162782770	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	9.061000	0.93913	2.873000	0.98535	0.563000	0.77884	CCT		0.348	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			Missense_Mutation
FASTKD1	79675	genome.wustl.edu	37	2	170393800	170393800	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr2:170393800C>T	ENST00000453153.2	-	12	2471	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	FASTKD1_ENST00000453929.2_Missense_Mutation_p.E666K|FASTKD1_ENST00000495505.1_Intron	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	709					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.E709K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						CCTAGTACCTCTGCTAACATT	0.313																																																1	Substitution - Missense(1)	ovary(1)	2											132.0	129.0	130.0					2																	170393800		2203	4300	6503	170102046	SO:0001583	missense	79675			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.2125G>A	2.37:g.170393800C>T	ENSP00000400513:p.Glu709Lys	Somatic		Capture	Illumina GAIIx	4	170102046	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	CCDS33318.1	SNP	32	WashU	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470305	0.84533	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.46063	0.88;0.88	5.63	5.63	0.86233	FAST kinase-like protein, subdomain 2 (1);	0.088719	0.85682	D	0.000000	T	0.57169	0.2035	L	0.58428	1.81	0.58432	D	0.999999	D;D	0.65815	0.995;0.992	P;P	0.57548	0.823;0.811	T	0.52260	-0.8599	10	0.38643	T	0.18	-12.6835	18.6672	0.91495	0.0:1.0:0.0:0.0	.	666;709	Q53R41-2;Q53R41	.;FAKD1_HUMAN	K	709;666	ENSP00000400513:E709K;ENSP00000403229:E666K	ENSP00000400513:E709K	E	-	1	0	FASTKD1	170102046	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.105000	0.64591	2.658000	0.90341	0.491000	0.48974	GAG		0.313	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		Missense_Mutation
BRINP2	57795	genome.wustl.edu	37	1	177245514	177245514	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1469-01	TCGA-24-1469-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr1:177245514G>C	ENST00000361539.4	+	6	1268	c.956G>C	c.(955-957)aGc>aCc	p.S319T	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	319					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											ATGGAGGACAGCCTGCTGCAG	0.577																																																0			1											70.0	59.0	62.0					1																	177245514		2203	4300	6503	175512137	SO:0001583	missense	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.956G>C	1.37:g.177245514G>C	ENSP00000354481:p.Ser319Thr	Somatic		Capture	Illumina GAIIx	4	175512137	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	SNP	34	WashU	.	.	.	.	.	.	.	.	.	.	G	7.776	0.708471	0.15239	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.14144	2.53	6.07	5.15	0.70609	.	0.125179	0.64402	D	0.000001	T	0.09069	0.0224	L	0.33189	0.99	0.39261	D	0.964206	B;P;B	0.43750	0.037;0.816;0.015	B;B;B	0.39339	0.012;0.297;0.004	T	0.14062	-1.0486	10	0.07175	T	0.84	-23.9766	9.475	0.38867	0.2143:0.0:0.7857:0.0	.	69;214;319	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	T	69;319	ENSP00000354481:S319T	ENSP00000354481:S319T	S	+	2	0	FAM5B	175512137	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.703000	0.37846	1.570000	0.49709	0.655000	0.94253	AGC		0.577	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		Missense_Mutation
PDE11A	50940	genome.wustl.edu	37	2	178494184	178494184	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr2:178494184G>T	ENST00000286063.6	-	20	3070	c.2753C>A	c.(2752-2754)gCc>gAc	p.A918D	PDE11A_ENST00000449286.2_Missense_Mutation_p.A560D|PDE11A_ENST00000358450.4_Missense_Mutation_p.A668D|PDE11A_ENST00000389683.3_Missense_Mutation_p.A474D|PDE11A_ENST00000450799.2_Missense_Mutation_p.A109D|PDE11A_ENST00000409504.1_Missense_Mutation_p.A560D	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	918					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.A918D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GGAGGATGAGGCAGTTGAGGC	0.498									Primary Pigmented Nodular Adrenocortical Disease, Familial																																							1	Substitution - Missense(1)	ovary(1)	2											266.0	213.0	230.0					2																	178494184		2203	4300	6503	178202430	SO:0001583	missense	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2753C>A	2.37:g.178494184G>T	ENSP00000286063:p.Ala918Asp	Somatic		Capture	Illumina GAIIx	4	178202430	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	CCDS33334.1	SNP	42	WashU	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.53|16.53	3.149123|3.149123	0.57151|0.57151	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000450799;ENST00000409504;ENST00000389683;ENST00000449286|ENST00000436700	T;T;T;T;T;T|.	0.74421|.	-0.47;-0.24;-0.19;-0.37;-0.84;-0.37|.	5.62|5.62	5.62|5.62	0.85841|0.85841	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);|.	0.577148|.	0.18523|.	N|.	0.138707|.	T|.	0.38241|.	0.1033|.	N|N	0.14661|0.14661	0.345|0.345	0.31674|0.31674	N|N	0.644006|0.644006	B;B|.	0.25609|.	0.13;0.079|.	B;B|.	0.23574|.	0.047;0.035|.	T|.	0.41251|.	-0.9519|.	10|.	0.14252|.	T|.	0.57|.	.|.	15.1709|15.1709	0.72872|0.72872	0.0:0.1406:0.8594:0.0|0.0:0.1406:0.8594:0.0	.|.	668;918|.	Q9HCR9-2;Q9HCR9|.	.;PDE11_HUMAN|.	D|X	918;668;109;560;474;560|120	ENSP00000286063:A918D;ENSP00000351232:A668D;ENSP00000387964:A109D;ENSP00000386539:A560D;ENSP00000374333:A474D;ENSP00000390599:A560D|.	ENSP00000286063:A918D|.	A|C	-|-	2|3	0|2	PDE11A|PDE11A	178202430|178202430	0.922000|0.922000	0.31269|0.31269	0.919000|0.919000	0.36401|0.36401	0.200000|0.200000	0.23975|0.23975	3.386000|3.386000	0.52492|0.52492	2.655000|2.655000	0.90218|0.90218	0.591000|0.591000	0.81541|0.81541	GCC|TGC		0.498	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			Missense_Mutation
TTN	7273	genome.wustl.edu	37	2	179425005	179425005	+	Silent	SNP	T	T	G			TCGA-24-1469-01	TCGA-24-1469-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr2:179425005T>G	ENST00000591111.1	-	276	81155	c.80931A>C	c.(80929-80931)ggA>ggC	p.G26977G	TTN_ENST00000589042.1_Silent_p.G28618G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.G19745G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.G26050G|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.G19553G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.G19678G|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26977	Fibronectin type-III 96. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G26048G(1)|p.G19553G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATATTCACATCCTTCCCGAA	0.398																																																2	Substitution - coding silent(2)	ovary(2)	2											103.0	101.0	102.0					2																	179425005		1912	4125	6037	179133251	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80931A>C	2.37:g.179425005T>G		Somatic		Capture	Illumina GAIIx	4	179133251	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		SNP	50	WashU																																																																																				0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		Missense_Mutation
TTN	7273	genome.wustl.edu	37	2	179497345	179497345	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr2:179497345G>A	ENST00000591111.1	-	185	38689	c.38465C>T	c.(38464-38466)tCa>tTa	p.S12822L	TTN_ENST00000589042.1_Missense_Mutation_p.S14463L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S5590L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S11895L|TTN_ENST00000460472.2_Missense_Mutation_p.S5398L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S5523L			Q8WZ42	TITIN_HUMAN	titin	12822	Ig-like 85.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S11895L(1)|p.S5398L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATCACCATTGAATGCTTAGT	0.408																																																2	Substitution - Missense(2)	ovary(2)	2											185.0	181.0	182.0					2																	179497345		1928	4138	6066	179205590	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38465C>T	2.37:g.179497345G>A	ENSP00000465570:p.Ser12822Leu	Somatic		Capture	Illumina GAIIx	4	179205590	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		SNP	45	WashU	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980613	0.34942	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	6.1	6.1	0.99115	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69584	0.3127	M	0.64404	1.975	0.30136	N	0.804329	B;B;B;B	0.28128	0.201;0.201;0.201;0.201	B;B;B;B	0.28232	0.087;0.087;0.087;0.087	T	0.68164	-0.5481	9	0.87932	D	0	.	20.7146	0.99709	0.0:0.0:1.0:0.0	.	5398;5523;5590;12822	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	11895;5398;5590;5523;5398	ENSP00000343764:S11895L;ENSP00000434586:S5398L;ENSP00000340554:S5590L;ENSP00000352154:S5523L	ENSP00000340554:S5590L	S	-	2	0	TTN	179205590	0.999000	0.42202	0.998000	0.56505	0.997000	0.91878	4.688000	0.61715	2.902000	0.99343	0.650000	0.86243	TCA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		Missense_Mutation
RNASEL	6041	genome.wustl.edu	37	1	182545403	182545403	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1469-01	TCGA-24-1469-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr1:182545403T>C	ENST00000367559.3	-	6	2280	c.2027A>G	c.(2026-2028)gAa>gGa	p.E676G	RNASEL_ENST00000444138.1_Missense_Mutation_p.E676G	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	676	KEN. {ECO:0000255|PROSITE- ProRule:PRU00725}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.E676G(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTTATGCTTTTCTTCATCAAT	0.294																																																1	Substitution - Missense(1)	ovary(1)	1											59.0	62.0	61.0					1																	182545403		2203	4295	6498	180812026	SO:0001583	missense	6041			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.2027A>G	1.37:g.182545403T>C	ENSP00000356530:p.Glu676Gly	Somatic		Capture	Illumina GAIIx	4	180812026	Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	CCDS1347.1	SNP	62	WashU	.	.	.	.	.	.	.	.	.	.	T	15.05	2.717206	0.48622	.	.	ENSG00000135828	ENST00000367559;ENST00000444138	T;T	0.31769	1.48;1.48	5.4	4.27	0.50696	PUG domain (1);KEN domain, ribonuclease activator (2);	0.869308	0.10012	N	0.727091	T	0.40145	0.1105	M	0.70595	2.14	0.20196	N	0.999927	P	0.47484	0.896	P	0.46510	0.519	T	0.28459	-1.0043	10	0.72032	D	0.01	-3.2321	8.3357	0.32213	0.0:0.0905:0.0:0.9095	.	676	Q05823	RN5A_HUMAN	G	676	ENSP00000356530:E676G;ENSP00000411147:E676G	ENSP00000356530:E676G	E	-	2	0	RNASEL	180812026	0.003000	0.15002	0.009000	0.14445	0.036000	0.12997	1.085000	0.30840	0.981000	0.38548	0.482000	0.46254	GAA		0.294	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		Missense_Mutation
WWC2	80014	genome.wustl.edu	37	4	184166646	184166646	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr4:184166646C>T	ENST00000403733.3	+	6	879	c.680C>T	c.(679-681)tCt>tTt	p.S227F	WWC2_ENST00000448232.2_Missense_Mutation_p.S227F|WWC2_ENST00000513834.1_Missense_Mutation_p.S227F|WWC2_ENST00000504005.1_Intron|WWC2_ENST00000378925.3_Missense_Mutation_p.S129F	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	227					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.S227F(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GAACTAAAATCTATCAGAAAG	0.368																																																1	Substitution - Missense(1)	ovary(1)	4											47.0	47.0	47.0					4																	184166646		2203	4300	6503	184403640	SO:0001583	missense	80014			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.680C>T	4.37:g.184166646C>T	ENSP00000384222:p.Ser227Phe	Somatic		Capture	Illumina GAIIx	4	184403640	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	CCDS34109.2	SNP	32	WashU	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897119	0.91962	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232	T;T;T;T	0.13196	3.38;2.61;3.4;3.25	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000002	T	0.35480	0.0933	L	0.59436	1.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.71184	0.972	T	0.02713	-1.1120	10	0.72032	D	0.01	-15.6497	19.0333	0.92967	0.0:1.0:0.0:0.0	.	227	Q6AWC2	WWC2_HUMAN	F	227;129;227;227	ENSP00000384222:S227F;ENSP00000368205:S129F;ENSP00000425054:S227F;ENSP00000398577:S227F	ENSP00000368205:S129F	S	+	2	0	WWC2	184403640	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.416000	0.80143	2.793000	0.96121	0.655000	0.94253	TCT		0.368	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		Missense_Mutation
PLA2G4A	5321	genome.wustl.edu	37	1	186919850	186919850	+	Missense_Mutation	SNP	C	C	G	rs370896190		TCGA-24-1469-01	TCGA-24-1469-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr1:186919850C>G	ENST00000367466.3	+	13	1478	c.1326C>G	c.(1324-1326)caC>caG	p.H442Q	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.H382Q	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	442	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.		H -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.H442Q(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	ATGAATCACACGAACCCAAAG	0.398																																																3	Substitution - Missense(3)	ovary(1)|lung(1)|breast(1)	1											60.0	57.0	58.0					1																	186919850		2203	4300	6503	185186473	SO:0001583	missense	5321			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1326C>G	1.37:g.186919850C>G	ENSP00000356436:p.His442Gln	Somatic		Capture	Illumina GAIIx	4	185186473	B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	CCDS1372.1	SNP	19	WashU	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.583011	0.00872	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.04049	3.72;3.72	6.07	-7.53	0.01336	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.225766	0.48286	N	0.000186	T	0.01061	0.0035	N	0.01048	-1.04	0.22171	N	0.999316	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38824	-0.9643	10	0.11182	T	0.66	-10.6744	7.2366	0.26074	0.2647:0.106:0.5319:0.0974	.	382;442	E7EU42;P47712	.;PA24A_HUMAN	Q	442;382	ENSP00000356436:H442Q;ENSP00000406892:H382Q	ENSP00000356436:H442Q	H	+	3	2	PLA2G4A	185186473	0.568000	0.26635	0.773000	0.31616	0.409000	0.31022	-0.257000	0.08745	-1.360000	0.02172	-3.496000	0.00033	CAC		0.398	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		Missense_Mutation
EIF2B5	8893	genome.wustl.edu	37	3	183857889	183857889	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1469-01	TCGA-24-1469-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr3:183857889A>G	ENST00000273783.3	+	6	909	c.787A>G	c.(787-789)Aac>Gac	p.N263D	EIF2B5_ENST00000444495.1_Missense_Mutation_p.N263D	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	263					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.N263D(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTTTACAGACAACTTTGACTA	0.423																																																1	Substitution - Missense(1)	ovary(1)	3											93.0	82.0	85.0					3																	183857889		2203	4300	6503	185340583	SO:0001583	missense	8893			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.787A>G	3.37:g.183857889A>G	ENSP00000273783:p.Asn263Asp	Somatic		Capture	Illumina GAIIx	4	185340583	Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	CCDS3252.1	SNP	5	WashU	.	.	.	.	.	.	.	.	.	.	a	33	5.217376	0.95104	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.99292	-5.7;-5.7	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.99492	0.9819	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98664	1.0685	10	0.52906	T	0.07	.	15.5609	0.76244	1.0:0.0:0.0:0.0	.	263	Q13144	EI2BE_HUMAN	D	263;263;19	ENSP00000273783:N263D;ENSP00000409142:N263D	ENSP00000273783:N263D	N	+	1	0	EIF2B5	185340583	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.961000	0.93122	2.271000	0.75665	0.533000	0.62120	AAC		0.423	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			Missense_Mutation
FAT1	2195	genome.wustl.edu	37	4	187539064	187539064	+	Silent	SNP	A	A	G			TCGA-24-1469-01	TCGA-24-1469-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr4:187539064A>G	ENST00000441802.2	-	10	8885	c.8676T>C	c.(8674-8676)caT>caC	p.H2892H		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2892	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTTTTCACCATGATCTGATG	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0			4											171.0	159.0	163.0					4																	187539064		1995	4165	6160	187776058	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8676T>C	4.37:g.187539064A>G		Somatic		Capture	Illumina GAIIx	4	187776058		Silent	SNP	ENST00000441802.2	37	CCDS47177.1	SNP	8	WashU																																																																																				0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		Silent
Unknown	0	genome.wustl.edu	37	3	196263486	196263486	+	IGR	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr3:196263486C>T								SMCO1 (21249 upstream) : WDR53 (17569 downstream)																							CAAACCGGCACGGTCTGATCC	0.542																																																0			3																																								197747883	SO:0001628	intergenic_variant	642892																															3.37:g.196263486C>T		Somatic		Capture	Illumina GAIIx	4	197747883		Silent	SNP		37		SNP	19	WashU																																																																																			0	0.542									Silent
CARF	79800	genome.wustl.edu	37	2	203807552	203807552	+	Silent	SNP	T	T	C			TCGA-24-1469-01	TCGA-24-1469-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr2:203807552T>C	ENST00000402905.3	+	4	489	c.168T>C	c.(166-168)aaT>aaC	p.N56N	CARF_ENST00000320443.8_Silent_p.N56N|CARF_ENST00000456821.2_Silent_p.N44N|CARF_ENST00000444724.1_Silent_p.N56N|CARF_ENST00000434998.1_Intron|CARF_ENST00000414439.1_Intron|CARF_ENST00000545253.1_Intron|CARF_ENST00000438828.2_Silent_p.N56N|CARF_ENST00000471271.1_3'UTR|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Intron|CARF_ENST00000545262.1_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	56					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N56N(1)									AAGCAAATAATTCACTCATAT	0.428																																																1	Substitution - coding silent(1)	ovary(1)	2											89.0	85.0	86.0					2																	203807552		1880	4109	5989	203515797	SO:0001819	synonymous_variant	79800			AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.168T>C	2.37:g.203807552T>C		Somatic		Capture	Illumina GAIIx	4	203515797	B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Silent	SNP	ENST00000402905.3	37	CCDS42801.1	SNP	52	WashU																																																																																				0.428	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		Silent
MAP2	4133	genome.wustl.edu	37	2	210558772	210558772	+	Silent	SNP	C	C	G			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr2:210558772C>G	ENST00000360351.4	+	7	2384	c.1878C>G	c.(1876-1878)tcC>tcG	p.S626S	MAP2_ENST00000447185.1_Silent_p.S622S|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	626					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.S626S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GAAAAGAATCCCAGCCCAGTC	0.443																																					Pancreas(27;423 979 28787 29963)											1	Substitution - coding silent(1)	ovary(1)	2											59.0	58.0	58.0					2																	210558772		2203	4300	6503	210267017	SO:0001819	synonymous_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1878C>G	2.37:g.210558772C>G		Somatic		Capture	Illumina GAIIx	4	210267017	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	CCDS2384.1	SNP	22	WashU																																																																																				0.443	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		Silent
ABCA12	26154	genome.wustl.edu	37	2	215862429	215862429	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr2:215862429C>G	ENST00000272895.7	-	23	3503	c.3284G>C	c.(3283-3285)cGg>cCg	p.R1095P	ABCA12_ENST00000389661.4_Missense_Mutation_p.R777P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1095					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.R1095P(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCATGAAGCCGGAGGTCTTT	0.358																																					Ovarian(66;664 1488 5121 34295)											1	Substitution - Missense(1)	ovary(1)	2											79.0	76.0	77.0					2																	215862429		2203	4300	6503	215570674	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3284G>C	2.37:g.215862429C>G	ENSP00000272895:p.Arg1095Pro	Somatic		Capture	Illumina GAIIx	4	215570674	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	SNP	23	WashU	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678575	0.88542	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.84298	-1.83;-1.83	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000019	D	0.94248	0.8153	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.991	D	0.94455	0.7671	10	0.72032	D	0.01	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	1095;777	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	P	1095;777	ENSP00000272895:R1095P;ENSP00000374312:R777P	ENSP00000272895:R1095P	R	-	2	0	ABCA12	215570674	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.283000	0.78640	2.780000	0.95670	0.655000	0.94253	CGG		0.358	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		Missense_Mutation
SPEG	10290	genome.wustl.edu	37	2	220309462	220309462	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr2:220309462C>T	ENST00000312358.7	+	2	608	c.476C>T	c.(475-477)aCg>aTg	p.T159M	SPEG_ENST00000396698.1_Missense_Mutation_p.T55M|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	159					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T159M(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCACCCCCACGGGTGAGCTC	0.607																																																1	Substitution - Missense(1)	ovary(1)	2											43.0	49.0	47.0					2																	220309462		1915	4118	6033	220017706	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.476C>T	2.37:g.220309462C>T	ENSP00000311684:p.Thr159Met	Somatic		Capture	Illumina GAIIx	4	220017706	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	SNP	19	WashU	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340397	0.60963	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000435853;ENST00000431523;ENST00000396698	T;T;T;T	0.72835	-0.2;0.18;0.18;-0.69	4.86	4.86	0.63082	.	0.000000	0.38272	U	0.001745	T	0.66416	0.2787	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	P	0.58928	0.848	T	0.72620	-0.4238	10	0.48119	T	0.1	.	15.7524	0.77997	0.0:1.0:0.0:0.0	.	159	Q15772	SPEG_HUMAN	M	159;159;68;65;55	ENSP00000311684:T159M;ENSP00000393134:T68M;ENSP00000410986:T65M;ENSP00000379926:T55M	ENSP00000265327:T159M	T	+	2	0	SPEG	220017706	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	2.216000	0.42871	2.227000	0.72691	0.442000	0.29010	ACG		0.607	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		Missense_Mutation
SPHKAP	80309	genome.wustl.edu	37	2	228884251	228884251	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1469-01	TCGA-24-1469-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr2:228884251A>G	ENST00000392056.3	-	7	1365	c.1319T>C	c.(1318-1320)gTt>gCt	p.V440A	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V440A	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	440						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.V440A(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGACCGAGAAACCACTGTATC	0.498																																																1	Substitution - Missense(1)	ovary(1)	2											110.0	107.0	108.0					2																	228884251		2203	4300	6503	228592495	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1319T>C	2.37:g.228884251A>G	ENSP00000375909:p.Val440Ala	Somatic		Capture	Illumina GAIIx	4	228592495	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	SNP	2	WashU	.	.	.	.	.	.	.	.	.	.	A	2.284	-0.364077	0.05103	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11169	2.8;2.8	6.03	2.42	0.29668	.	0.551000	0.19097	N	0.122794	T	0.09686	0.0238	L	0.50333	1.59	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.003;0.004	T	0.35822	-0.9773	10	0.21014	T	0.42	.	8.4103	0.32640	0.6171:0.0:0.3829:0.0	.	440;440	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	A	440	ENSP00000375909:V440A;ENSP00000339886:V440A	ENSP00000339886:V440A	V	-	2	0	SPHKAP	228592495	0.002000	0.14202	0.064000	0.19789	0.289000	0.27227	0.796000	0.26986	0.184000	0.20083	0.533000	0.62120	GTT		0.498	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		Missense_Mutation
TRIP12	9320	genome.wustl.edu	37	2	230650512	230650512	+	Silent	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr2:230650512G>A	ENST00000283943.5	-	33	5008	c.4830C>T	c.(4828-4830)ggC>ggT	p.G1610G	TRIP12_ENST00000389045.3_Silent_p.G1340G|TRIP12_ENST00000389044.4_Silent_p.G1658G	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1610					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.G1610G(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CCCGTGAGCTGCCGAGGTCCT	0.458																																																1	Substitution - coding silent(1)	ovary(1)	2											117.0	118.0	118.0					2																	230650512		2203	4300	6503	230358756	SO:0001819	synonymous_variant	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4830C>T	2.37:g.230650512G>A		Somatic		Capture	Illumina GAIIx	4	230358756	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	CCDS33391.1	SNP	46	WashU																																																																																				0.458	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		Silent
NTPCR	84284	genome.wustl.edu	37	1	233113957	233113957	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr1:233113957G>A	ENST00000366628.5	+	5	640	c.553G>A	c.(553-555)Gtg>Atg	p.V185M	NTPCR_ENST00000490098.1_3'UTR	NM_032324.1	NP_115700.1	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	185						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|nucleoside-triphosphatase activity (GO:0017111)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|poly(A) RNA binding (GO:0044822)	p.V185M(1)		large_intestine(2)|lung(1)|ovary(1)	4						CGTGACGTGCGTGCAGAGCAG	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											110.0	88.0	95.0					1																	233113957		2203	4300	6503	231180580	SO:0001583	missense	84284			BC005102	CCDS1597.1	1q42.2	2010-12-20	2010-12-20	2010-12-20	ENSG00000135778	ENSG00000135778	3.6.1.15		28204	protein-coding gene	gene with protein product	"""human cancer-related NTPase"""		"""chromosome 1 open reading frame 57"""	C1orf57		17291528	Standard	NM_032324		Approved	MGC13186, HCR-NTPase	uc001hvj.1	Q9BSD7	OTTHUMG00000037822	ENST00000366628.5:c.553G>A	1.37:g.233113957G>A	ENSP00000355587:p.Val185Met	Somatic		Capture	Illumina GAIIx	4	231180580		Missense_Mutation	SNP	ENST00000366628.5	37	CCDS1597.1	SNP	40	WashU	.	.	.	.	.	.	.	.	.	.	G	7.645	0.681650	0.14907	.	.	ENSG00000135778	ENST00000366628	T	0.51817	0.69	4.82	2.96	0.34315	.	.	.	.	.	T	0.34048	0.0884	L	0.42245	1.32	0.80722	D	1	B	0.32620	0.378	B	0.22880	0.042	T	0.15178	-1.0446	9	0.59425	D	0.04	.	7.6832	0.28526	0.262:0.0:0.738:0.0	.	185	Q9BSD7	NTPCR_HUMAN	M	185	ENSP00000355587:V185M	ENSP00000355587:V185M	V	+	1	0	NTPCR	231180580	0.998000	0.40836	0.386000	0.26170	0.180000	0.23129	2.852000	0.48310	0.636000	0.30508	-0.251000	0.11542	GTG		0.537	NTPCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092324.2	NM_032324		Missense_Mutation
ALPP	250	genome.wustl.edu	37	2	233243522	233243522	+	Missense_Mutation	SNP	C	C	T	rs150250474		TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr2:233243522C>T	ENST00000392027.2	+	1	279	c.10C>T	c.(10-12)Ccc>Tcc	p.P4S	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	4					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.P4S(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CATGCTGGGGCCCTGCAtgct	0.617													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17835	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	2											44.0	49.0	47.0					2																	233243522		2203	4300	6503	232951766	SO:0001583	missense	250			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.10C>T	2.37:g.233243522C>T	ENSP00000375881:p.Pro4Ser	Somatic		Capture	Illumina GAIIx	4	232951766	P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	CCDS2490.1	SNP	26	WashU	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	.	7.537	0.659916	0.14645	.	.	ENSG00000163283	ENST00000392027	D	0.95272	-3.66	2.46	1.53	0.23141	.	7.203100	0.00166	N	0.000000	D	0.92172	0.7518	L	0.54323	1.7	0.09310	N	1	B	0.24721	0.11	B	0.25291	0.059	T	0.76471	-0.2947	10	0.07482	T	0.82	.	10.8473	0.46751	0.0:0.5887:0.4113:0.0	.	4	P05187	PPB1_HUMAN	S	4	ENSP00000375881:P4S	ENSP00000375881:P4S	P	+	1	0	ALPP	232951766	0.000000	0.05858	0.352000	0.25734	0.043000	0.13939	-1.368000	0.02580	0.295000	0.22570	0.313000	0.20887	CCC		0.617	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		Missense_Mutation
COL6A3	1293	genome.wustl.edu	37	2	238277669	238277669	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01	TCGA-24-1469-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr2:238277669C>A	ENST00000295550.4	-	10	4889	c.4437G>T	c.(4435-4437)caG>caT	p.Q1479H	COL6A3_ENST00000353578.4_Missense_Mutation_p.Q1273H|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q1279H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q1278H|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q1273H|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q872H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1479	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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.Q1479H(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)		CATTGCTGAACTGCACGACCC	0.532																																																1	Substitution - Missense(1)	ovary(1)	2											67.0	64.0	65.0					2																	238277669		2203	4300	6503	237942408	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.4437G>T	2.37:g.238277669C>A	ENSP00000295550:p.Gln1479His	Somatic		Capture	Illumina GAIIx	4	237942408	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	SNP	20	WashU	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894380	0.33442	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.19	4.31	0.51392	von Willebrand factor, type A (3);	0.000000	0.50627	D	0.000108	D	0.92241	0.7539	M	0.87097	2.86	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92551	0.6050	10	0.87932	D	0	.	10.3964	0.44203	0.0:0.7926:0.0:0.2074	.	872;1273;1479	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	H	1479;1278;1273;872;1273;1279	ENSP00000295550:Q1479H;ENSP00000315609:Q1278H;ENSP00000315873:Q1273H;ENSP00000418285:Q872H;ENSP00000386844:Q1273H;ENSP00000295546:Q1279H	ENSP00000295550:Q1479H	Q	-	3	2	COL6A3	237942408	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	3.257000	0.51500	1.197000	0.43143	-0.142000	0.14014	CAG		0.532	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		Missense_Mutation
UBE2K	3093	genome.wustl.edu	37	4	39747381	39747385	+	Frame_Shift_Del	DEL	ACCAA	ACCAA	-			TCGA-24-1469-01	TCGA-24-1469-10	ACCAA	ACCAA	ACCAA	-	ACCAA	ACCAA	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr4:39747381_39747385delACCAA	ENST00000261427.5	+	3	451_455	c.167_171delACCAA	c.(166-171)taccaafs	p.YQ56fs	UBE2K_ENST00000445950.2_Frame_Shift_Del_p.YQ56fs|UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000503368.1_Intron|UBE2K_ENST00000295963.6_Frame_Shift_Del_p.YQ56fs	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	56					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein K48-linked ubiquitination (GO:0070936)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)	p.Y56fs*12(1)		large_intestine(1)|lung(1)|ovary(2)	4						GGAGGAAGATACCAACTAGAGATAA	0.312																																					NSCLC(101;689 1592 16105 29682 31745)											1	Deletion - Frameshift(1)	ovary(1)	4																																								39423780	SO:0001589	frameshift_variant	3093			U58522	CCDS33976.1, CCDS47043.1, CCDS47044.1	4p14	2011-05-19	2011-05-19	2007-12-04	ENSG00000078140	ENSG00000078140		"""Ubiquitin-conjugating enzymes E2"""	4914	protein-coding gene	gene with protein product		602846	"""huntingtin interacting protein 2"", ""ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)"""	HIP2		8702625, 17873885	Standard	NM_005339		Approved	HYPG, UBC1	uc003guu.4	P61086	OTTHUMG00000160543	ENST00000261427.5:c.167_171delACCAA	4.37:g.39747381_39747385delACCAA	ENSP00000261427:p.Tyr56fs	Somatic		Capture	Illumina GAIIx	4	39423776	A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3	Frame_Shift_Del	DEL	ENST00000261427.5	37	CCDS33976.1	DEL	14	WashU																																																																																				0.312	UBE2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361061.1	NM_005339		Frame_Shift_Del
DIEXF	27042	genome.wustl.edu	37	1	210004268	210004270	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-24-1469-01	TCGA-24-1469-10	GAG	GAG	GAG	-	GAG	GAG	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr1:210004268_210004270delGAG	ENST00000491415.2	+	3	325_327	c.268_270delGAG	c.(268-270)gagdel	p.E96del		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	96	Glu-rich.				multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E90del(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						agaggaagatgaggaggaggaag	0.438																																																1	Deletion - In frame(1)	ovary(1)	1																																								208070893	SO:0001651	inframe_deletion	27042			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.268_270delGAG	1.37:g.210004274_210004276delGAG	ENSP00000419005:p.Glu96del	Somatic		Capture	Illumina GAIIx	4	208070891	O75992|Q4VY00|Q63HL9	In_Frame_Del	DEL	ENST00000491415.2	37	CCDS1493.1	DEL	45	WashU																																																																																				0.438	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		In_Frame_Del
PKHD1	5314	genome.wustl.edu	37	6	51882397	51882397	+	Missense_Mutation	SNP	C	C	T	rs151160618	byFrequency	TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA		dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr6:51882397C>T	ENST00000371117.3	-	34	5686	c.5411G>A	c.(5410-5412)cGt>cAt	p.R1804H	PKHD1_ENST00000340994.4_Missense_Mutation_p.R1804H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1804					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.R1804H(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTCCTCCTCACGCTTCAGGCC	0.522													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19335	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	6						C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	123.0	107.0	112.0		5411,5411	-8.9	0.0	6	dbSNP_134	112	2,8598	1.2+/-3.3	0,2,4298	no	missense,missense	PKHD1	NM_138694.3,NM_170724.2	29,29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign	1804/4075,1804/3397	51882397	3,13003	2203	4300	6503	51990356	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5411G>A	6.37:g.51882397C>T	ENSP00000360158:p.Arg1804His	Somatic		Capture	Illumina GAIIx	Phase_III	51990356	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	SNP	19	WashU	.	.	.	.	.	.	.	.	.	.	C	6.643	0.487201	0.12641	2.27E-4	2.33E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87103	-2.0;-2.21	5.77	-8.9	0.00782	.	1.248570	0.05165	N	0.498509	T	0.33352	0.0860	N	0.00368	-1.59	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50972	-0.8764	10	0.07325	T	0.83	.	16.1091	0.81247	0.0:0.1176:0.6942:0.1883	.	1804;1804	P08F94-2;P08F94	.;PKHD1_HUMAN	H	1804	ENSP00000360158:R1804H;ENSP00000341097:R1804H	ENSP00000341097:R1804H	R	-	2	0	PKHD1	51990356	0.000000	0.05858	0.000000	0.03702	0.522000	0.34438	-0.829000	0.04415	-1.096000	0.03046	-0.294000	0.09567	CGT		0.522	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		Missense_Mutation
NXT1	29107	genome.wustl.edu	37	20	23334730	23334730	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	A	G	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA		dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr20:23334730G>A	ENST00000254998.2	+	2	439	c.52G>A	c.(52-54)Gag>Aag	p.E18K	RP3-322G13.5_ENST00000452395.1_RNA|RP3-322G13.5_ENST00000442440.1_RNA|RP3-322G13.5_ENST00000444981.1_RNA|RP3-322G13.7_ENST00000442884.1_RNA|AL096677.1_ENST00000596205.1_5'Flank	NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	nuclear transport factor 2-like export factor 1	18	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)|RNA export from nucleus (GO:0006405)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)		p.E18K(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CAGAGCTGCTGAGGAGTTTGT	0.547																																																1	Substitution - Missense(1)	ovary(1)	20											96.0	91.0	93.0					20																	23334730		2203	4300	6503	23282730	SO:0001583	missense	29107			AF156957	CCDS13150.1	20p12-p11.2	2014-05-12	2014-05-12		ENSG00000132661	ENSG00000132661			15913	protein-coding gene	gene with protein product		605811	"""NTX2-like export factor1"", ""NTF2-like export factor 1"""			10567585, 11259602	Standard	NM_013248		Approved	P15, MTR2	uc002wsx.1	Q9UKK6	OTTHUMG00000032059	ENST00000254998.2:c.52G>A	20.37:g.23334730G>A	ENSP00000254998:p.Glu18Lys	Somatic		Capture	Illumina GAIIx	Phase_III	23282730		Missense_Mutation	SNP	ENST00000254998.2	37	CCDS13150.1	SNP	45	WashU	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000807	0.93227	.	.	ENSG00000132661	ENST00000254998	.	.	.	5.32	5.32	0.75619	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.63721	0.2535	L	0.49571	1.57	0.80722	D	1	P	0.35328	0.495	P	0.45195	0.473	T	0.55817	-0.8081	9	0.21014	T	0.42	.	14.716	0.69269	0.0:0.0:1.0:0.0	.	18	Q9UKK6	NXT1_HUMAN	K	18	.	ENSP00000254998:E18K	E	+	1	0	NXT1	23282730	1.000000	0.71417	0.972000	0.41901	0.958000	0.62258	8.768000	0.91737	2.941000	0.99782	0.655000	0.94253	GAG		0.547	NXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078313.2	NM_013248		Missense_Mutation
ADSSL1	122622	genome.wustl.edu	37	14	105211240	105211240	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1469-01	TCGA-24-1469-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr14:105211240T>A	ENST00000330877.2	+	11	1250	c.1165T>A	c.(1165-1167)Ttc>Atc	p.F389I	ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000556623.1_5'Flank|ADSSL1_ENST00000555674.1_5'Flank|ADSSL1_ENST00000332972.5_Missense_Mutation_p.F432I	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1									p.F432I(1)		central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		GATTCCCTATTTCCCAGGTAT	0.522																																																1	Substitution - Missense(1)	ovary(1)	14											64.0	59.0	61.0					14																	105211240		2203	4300	6503	104282285	SO:0001583	missense	122622			AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.1165T>A	14.37:g.105211240T>A	ENSP00000331260:p.Phe389Ile	Somatic		Capture	Illumina GAIIx	4	104282285		Missense_Mutation	SNP	ENST00000330877.2	37	CCDS9990.1	SNP	64	WashU	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436515	0.62955	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.42513	0.97;0.97	4.67	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	L	0.58669	1.825	0.80722	D	1	P;P	0.49696	0.927;0.566	P;B	0.45558	0.485;0.348	T	0.33111	-0.9881	10	0.56958	D	0.05	-17.0419	10.4829	0.44704	0.1459:0.0:0.0:0.8541	.	432;389	Q8N142-2;Q8N142	.;PURA1_HUMAN	I	389;432	ENSP00000331260:F389I;ENSP00000333019:F432I	ENSP00000331260:F389I	F	+	1	0	ADSSL1	104282285	1.000000	0.71417	0.877000	0.34402	0.456000	0.32438	7.920000	0.87521	0.604000	0.29930	0.459000	0.35465	TTC		0.522	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			Missense_Mutation
RP11-252A24.2	0	genome.wustl.edu	37	16	74385956	74385956	+	RNA	SNP	T	T	C			TCGA-24-1469-01	TCGA-24-1469-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr16:74385956T>C	ENST00000429810.2	-	0	796																		p.S197G(1)									GAGGCAGCACTTGCCAGGGCA	0.522																																																1	Substitution - Missense(1)	ovary(1)	16																																								72943457																																		16.37:g.74385956T>C		Somatic		Capture	Illumina GAIIx	4	72943457		Missense_Mutation	SNP	ENST00000429810.2	37		SNP	56	WashU	.	.	.	.	.	.	.	.	.	.	T	8.850	0.944343	0.18356	.	.	ENSG00000214331	ENST00000429810	.	.	.	3.78	3.78	0.43462	.	0.338967	0.31404	U	0.007715	T	0.67088	0.2856	.	.	.	.	.	.	.	.	.	.	.	.	T	0.78102	-0.2335	5	0.62326	D	0.03	.	13.0286	0.58829	0.0:0.0:0.0:1.0	.	.	.	.	G	197	.	ENSP00000393936:S197G	S	-	1	0	AC009053.1	72943457	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	4.977000	0.63792	1.735000	0.51646	0.163000	0.16589	AGT		0.522	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			Missense_Mutation
DNAH17	8632	genome.wustl.edu	37	17	76487591	76487591	+	Silent	SNP	G	G	A			TCGA-24-1469-01	TCGA-24-1469-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr17:76487591G>A	ENST00000585328.1	-	43	6712	c.6588C>T	c.(6586-6588)atC>atT	p.I2196I	DNAH17_ENST00000586052.1_5'Flank|RP11-559N14.5_ENST00000591373.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000389840.5_Silent_p.I2187I|RP11-559N14.5_ENST00000588565.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2187	AAA 2. {ECO:0000250}.				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.I2196I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGTCAAGGATGATCCACTTGG	0.597																																																1	Substitution - coding silent(1)	ovary(1)	17											122.0	133.0	129.0					17																	76487591		2083	4243	6326	73999186	SO:0001819	synonymous_variant	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6588C>T	17.37:g.76487591G>A		Somatic		Capture	Illumina GAIIx	4	73999186	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37		SNP	45	WashU																																																																																				0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		Silent
LGALS3BP	3959	genome.wustl.edu	37	17	76968632	76968632	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1469-01	TCGA-24-1469-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-24-1469-01	TCGA-24-1469-10	g.chr17:76968632C>A	ENST00000262776.3	-	6	1092	c.784G>T	c.(784-786)Gac>Tac	p.D262Y	LGALS3BP_ENST00000591778.1_Missense_Mutation_p.W177C	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	262	BACK.				cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)	p.D262Y(1)		NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GCATACAGGTCCAGGGGCATC	0.647																																					GBM(89;1105 1755 18102 21513)											1	Substitution - Missense(1)	ovary(1)	17											44.0	46.0	45.0					17																	76968632		2203	4300	6503	74480227	SO:0001583	missense	3959			L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.784G>T	17.37:g.76968632C>A	ENSP00000262776:p.Asp262Tyr	Somatic		Capture	Illumina GAIIx	4	74480227	Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	ENST00000262776.3	37	CCDS11759.1	SNP	30	WashU	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922266	0.33908	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.69435	-0.4	3.65	2.66	0.31614	BTB/Kelch-associated (2);	0.361283	0.20261	N	0.095868	T	0.72867	0.3514	L	0.56769	1.78	0.80722	D	1	D	0.59767	0.986	P	0.60541	0.876	T	0.73408	-0.3992	10	0.66056	D	0.02	-29.2352	9.0787	0.36538	0.0:0.775:0.225:0.0	.	262	Q08380	LG3BP_HUMAN	Y	262;250	ENSP00000262776:D262Y	ENSP00000262776:D262Y	D	-	1	0	LGALS3BP	74480227	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	0.956000	0.29202	1.083000	0.41159	0.561000	0.74099	GAC		0.647	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		Missense_Mutation
