#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCA1	19	hgsc.bcm.edu;ucsc.edu	37	9	107573139	107573139	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr9:107573139T>C	ENST00000374736.3	-	29	4511	c.4117A>G	c.(4117-4119)Aag>Gag	p.K1373E		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1373					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CTGGGGTACTTGCCAAAGGGT	0.532																																																	0													187.0	159.0	168.0					9																	107573139		2203	4300	6503	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4117A>G	9.37:g.107573139T>C	ENSP00000363868:p.Lys1373Glu	Somatic		WXS	SOLID	Phase_I	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	10.02	1.235508	0.22626	.	.	ENSG00000165029	ENST00000374736	D	0.86769	-2.17	5.55	5.55	0.83447	.	0.137385	0.64402	D	0.000004	T	0.74215	0.3687	N	0.12569	0.235	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.69506	-0.5127	10	0.02654	T	1	.	15.9896	0.80193	0.0:0.0:0.0:1.0	.	1373	O95477	ABCA1_HUMAN	E	1373	ENSP00000363868:K1373E	ENSP00000363868:K1373E	K	-	1	0	ABCA1	106612960	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.962000	0.87912	2.238000	0.73509	0.533000	0.62120	AAG		0.532	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1		NM_005502	
ABCB4	5244	hgsc.bcm.edu;ucsc.edu	37	7	87049340	87049340	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr7:87049340T>C	ENST00000265723.4	-	19	2479	c.2368A>G	c.(2368-2370)Atg>Gtg	p.M790V	ABCB4_ENST00000358400.3_Missense_Mutation_p.M790V|ABCB4_ENST00000359206.3_Missense_Mutation_p.M790V|ABCB4_ENST00000545634.1_Missense_Mutation_p.M790V|ABCB4_ENST00000453593.1_Missense_Mutation_p.M790V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	790	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TTAAAAGCCATTGACCGCAGT	0.413																																																	0													178.0	164.0	169.0					7																	87049340		2203	4300	6503	SO:0001583	missense	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2368A>G	7.37:g.87049340T>C	ENSP00000265723:p.Met790Val	Somatic		WXS	SOLID	Phase_I	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	T	12.27	1.887683	0.33348	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52	6.03	3.51	0.40186	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.546545	0.21901	N	0.067449	D	0.89188	0.6644	M	0.80746	2.51	0.36134	D	0.846349	B;B;B	0.16802	0.017;0.016;0.019	B;B;B	0.29440	0.052;0.038;0.102	D	0.88926	0.3369	10	0.52906	T	0.07	-16.0732	11.1797	0.48620	0.245:0.0:0.0:0.755	.	790;790;790	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	V	790	ENSP00000352135:M790V;ENSP00000351172:M790V;ENSP00000265723:M790V;ENSP00000392983:M790V;ENSP00000437465:M790V	ENSP00000265723:M790V	M	-	1	0	ABCB4	86887276	0.996000	0.38824	0.789000	0.31954	0.412000	0.31113	2.678000	0.46900	1.077000	0.40990	0.533000	0.62120	ATG		0.413	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1		NM_000443	
ADAMTS7	11173	hgsc.bcm.edu	37	15	79090348	79090348	+	Silent	SNP	G	G	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr15:79090348G>A	ENST00000388820.4	-	3	774	c.564C>T	c.(562-564)gcC>gcT	p.A188A	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	188					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCCTCTCCGGGGCCTGACGCT	0.642																																																	0													59.0	60.0	59.0					15																	79090348		2196	4293	6489	SO:0001819	synonymous_variant	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.564C>T	15.37:g.79090348G>A		Somatic		WXS	SOLID	Phase_I	Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	CCDS32303.1																																																																																				0.642	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1		NM_014272	
AKR1B15	441282	hgsc.bcm.edu	37	7	134261183	134261183	+	Splice_Site	SNP	G	G	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr7:134261183G>A	ENST00000457545.2	+	9	1085		c.e9+1		AKR1B15_ENST00000423958.1_Splice_Site	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15								oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CACAGCCCAGGTACCATATTT	0.458																																																	0													53.0	60.0	58.0					7																	134261183		2203	4300	6503	SO:0001630	splice_region_variant	441282				CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.825+1G>A	7.37:g.134261183G>A		Somatic		WXS	SOLID	Phase_I	C9J3V2	Splice_Site	SNP	ENST00000457545.2	37	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405444	0.25378	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	.	.	.	3.46	2.55	0.30701	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8209	0.40883	0.1077:0.0:0.8923:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKR1B15	133911723	1.000000	0.71417	0.961000	0.40146	0.296000	0.27459	7.110000	0.77069	0.633000	0.30452	0.194000	0.17425	.		0.458	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			Intron
ANKRD11	29123	hgsc.bcm.edu;ucsc.edu	37	16	89350352	89350352	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr16:89350352C>A	ENST00000301030.4	-	9	3058	c.2598G>T	c.(2596-2598)agG>agT	p.R866S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R866S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	866	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTTCATGTCCCTGTAGTCTG	0.562																																																	0													67.0	72.0	70.0					16																	89350352		2198	4300	6498	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2598G>T	16.37:g.89350352C>A	ENSP00000301030:p.Arg866Ser	Somatic		WXS	SOLID	Phase_I	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897328	0.52121	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.41065	1.01;1.01	5.51	2.5	0.30297	.	0.062472	0.64402	D	0.000006	T	0.50394	0.1613	M	0.65975	2.015	0.80722	D	1	D;D	0.60575	0.988;0.958	P;P	0.53861	0.736;0.681	T	0.48990	-0.8985	10	0.59425	D	0.04	.	9.6017	0.39607	0.0:0.7739:0.0:0.2261	.	485;866	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	S	866;866;485	ENSP00000301030:R866S;ENSP00000367581:R866S	ENSP00000301030:R866S	R	-	3	2	ANKRD11	87877853	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	1.663000	0.37429	0.288000	0.22398	0.561000	0.74099	AGG		0.562	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3		NM_013275	
BAI3	577	hgsc.bcm.edu;ucsc.edu	37	6	69685178	69685178	+	Silent	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr6:69685178A>G	ENST00000370598.1	+	10	2501	c.1680A>G	c.(1678-1680)gaA>gaG	p.E560E		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	560					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCTTCTGGGAACAGCCGAGCT	0.448																																																	0													88.0	80.0	83.0					6																	69685178		2203	4300	6503	SO:0001819	synonymous_variant	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1680A>G	6.37:g.69685178A>G		Somatic		WXS	SOLID	Phase_I	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	CCDS4968.1																																																																																				0.448	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			
PHF7	51533	hgsc.bcm.edu;ucsc.edu	37	3	52442023	52442023	+	5'Flank	SNP	C	C	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr3:52442023C>A	ENST00000327906.3	+	0	0				BAP1_ENST00000296288.5_Missense_Mutation_p.G109V|BAP1_ENST00000460680.1_Missense_Mutation_p.G109V	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CAGGGTGGGTCCCAGGTCCAC	0.557																																																	0													61.0	53.0	56.0					3																	52442023		2203	4300	6503	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52442023C>A	Exception_encountered	Somatic		WXS	SOLID	Phase_I	K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269214	0.95429	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000470173	T;T;T	0.62364	0.03;0.03;0.03	5.49	5.49	0.81192	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	D	0.86990	0.6066	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91134	0.4940	10	0.87932	D	0	-3.0683	19.3688	0.94475	0.0:1.0:0.0:0.0	.	109	Q92560	BAP1_HUMAN	V	109;109;30	ENSP00000417132:G109V;ENSP00000296288:G109V;ENSP00000417776:G30V	ENSP00000296288:G109V	G	-	2	0	BAP1	52417063	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.575000	0.82447	2.589000	0.87451	0.561000	0.74099	GGA		0.557	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		NM_016483	
BTBD7	55727	hgsc.bcm.edu;ucsc.edu	37	14	93761134	93761134	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr14:93761134T>C	ENST00000334746.5	-	3	539	c.232A>G	c.(232-234)Agg>Ggg	p.R78G	BTBD7_ENST00000555525.1_Missense_Mutation_p.R78G|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Missense_Mutation_p.R78G|BTBD7_ENST00000393170.2_5'Flank	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	78					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TCGGCAGACCTATTAGATTTC	0.448																																																	0													141.0	145.0	144.0					14																	93761134		2203	4300	6503	SO:0001583	missense	55727			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.232A>G	14.37:g.93761134T>C	ENSP00000335615:p.Arg78Gly	Somatic		WXS	SOLID	Phase_I	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.450424	0.63290	.	.	ENSG00000011114	ENST00000334746;ENST00000298896;ENST00000555525	T	0.44083	0.93	5.9	2.17	0.27698	.	0.000000	0.85682	D	0.000000	T	0.53674	0.1811	L	0.40543	1.245	0.80722	D	1	D;D	0.63880	0.989;0.993	D;D	0.75020	0.985;0.977	T	0.56341	-0.7995	10	0.72032	D	0.01	.	14.6792	0.69004	0.0:0.0:0.6899:0.3101	.	78;78	Q9P203-3;Q9P203	.;BTBD7_HUMAN	G	78	ENSP00000335615:R78G	ENSP00000298896:R78G	R	-	1	2	BTBD7	92830887	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.527000	0.53517	0.441000	0.26529	0.533000	0.62120	AGG		0.448	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1		NM_001002860	
FOPNL	123811	hgsc.bcm.edu;ucsc.edu	37	16	15977977	15977977	+	Silent	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr16:15977977A>G	ENST00000255759.6	-	2	143	c.114T>C	c.(112-114)gaT>gaC	p.D38D	FOPNL_ENST00000573968.1_Silent_p.D38D|CTA-972D3.2_ENST00000573856.1_RNA|FOPNL_ENST00000575744.1_Intron|FOPNL_ENST00000575073.1_Silent_p.D38D|FOPNL_ENST00000573429.1_Silent_p.D38D|FOPNL_ENST00000573396.1_Silent_p.D38D	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	38	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly (GO:0042384)|microtubule anchoring (GO:0034453)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						GTTCACGGTCATCATCTAGGG	0.358																																																	0													85.0	90.0	88.0					16																	15977977		2197	4300	6497	SO:0001819	synonymous_variant	0			AL832498	CCDS10567.1	16p13.11	2011-03-18	2011-03-18	2011-03-18	ENSG00000133393	ENSG00000133393			26435	protein-coding gene	gene with protein product	"""pluripotent embryonic stem cell-related protein"", ""FOP-related protein of 20 kDa"""		"""chromosome 16 open reading frame 63"""	C16orf63		12477932	Standard	NM_144600		Approved	DKFZp686N1651, FLJ31153, PHSECRG2, FOR20	uc002dec.1	Q96NB1	OTTHUMG00000129923	ENST00000255759.6:c.114T>C	16.37:g.15977977A>G		Somatic		WXS	SOLID	Phase_I	B3KPU9	Silent	SNP	ENST00000255759.6	37	CCDS10567.1																																																																																				0.358	FOPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252177.2		NM_144600	
MROH8	140699	hgsc.bcm.edu	37	20	35776241	35776241	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr20:35776241T>G	ENST00000400441.3	-	10	1145	c.1146A>C	c.(1144-1146)gaA>gaC	p.E382D	MROH8_ENST00000441008.2_Missense_Mutation_p.E368D|MROH8_ENST00000217333.8_Missense_Mutation_p.E262D			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	267																	CAGCCACCTTTTCCTGTGGGT	0.527																																																	0													50.0	54.0	53.0					20																	35776241		1996	4151	6147	SO:0001583	missense	0			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1146A>C	20.37:g.35776241T>G	ENSP00000383291:p.Glu382Asp	Somatic		WXS	SOLID	Phase_I	Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	7.191|7.191|7.191	0.591537|0.591537|0.591537	0.13812|0.13812|0.13812	.|.|.	.|.|.	ENSG00000101353|ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000417458;ENST00000421643|ENST00000343811;ENST00000400440	T;T;T|.|.	0.05447|.|.	3.44;3.44;3.44|.|.	5.68|5.68|5.68	-1.09|-1.09|-1.09	0.09904|0.09904|0.09904	.|.|.	0.756926|.|.	0.12940|.|.	N|.|.	0.426694|.|.	T|T|T	0.33206|0.33206|0.33206	0.0855|0.0855|0.0855	L|L|L	0.43923|0.43923|0.43923	1.385|1.385|1.385	0.09310|0.09310|0.09310	N|N|N	1|1|1	B;B;B;B|.|.	0.33171|.|.	0.278;0.4;0.4;0.206|.|.	B;B;B;B|.|.	0.30855|.|.	0.057;0.121;0.121;0.085|.|.	T|T|T	0.31724|0.31724|0.31724	-0.9933|-0.9933|-0.9933	10|5|5	0.13108|.|.	T|.|.	0.6|.|.	-0.1161|-0.1161|-0.1161	4.8699|4.8699|4.8699	0.13627|0.13627|0.13627	0.1789:0.486:0.0:0.3351|0.1789:0.486:0.0:0.3351|0.1789:0.486:0.0:0.3351	.|.|.	382;267;392;267|.|.	E7ETR9;Q9H579;Q6PF12;Q9H579-2|.|.	.;CT132_HUMAN;.;.|.|.	D|Q|T	368;382;262|61;384|409;413	ENSP00000392144:E368D;ENSP00000383291:E382D;ENSP00000217333:E262D|.|.	ENSP00000217333:E262D|.|.	E|K|K	-|-|-	3|1|2	2|0|0	C20orf132|C20orf132|C20orf132	35209655|35209655|35209655	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.147000|0.147000|0.147000	0.22382|0.22382|0.22382	0.047000|0.047000|0.047000	0.14425|0.14425|0.14425	-0.165000|-0.165000|-0.165000	0.09968|0.09968|0.09968	-0.132000|-0.132000|-0.132000	0.11557|0.11557|0.11557	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	GAA|AAA|AAA		0.527	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_152503	
CCDC170	80129	hgsc.bcm.edu	37	6	151857578	151857578	+	Silent	SNP	T	T	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr6:151857578T>C	ENST00000239374.7	+	2	282	c.183T>C	c.(181-183)tcT>tcC	p.S61S	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000367290.5_Silent_p.S61S	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	61																	GTGCTCAGTCTGAGGTAAGAT	0.458																																																	0													83.0	79.0	80.0					6																	151857578		1909	4122	6031	SO:0001819	synonymous_variant	0			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.183T>C	6.37:g.151857578T>C		Somatic		WXS	SOLID	Phase_I	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	ENST00000239374.7	37	CCDS43515.1																																																																																				0.458	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2		NM_025059	
CAPN3	825	hgsc.bcm.edu;ucsc.edu	37	15	42686505	42686505	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr15:42686505G>A	ENST00000397163.3	+	8	1300	c.1081G>A	c.(1081-1083)Ggc>Agc	p.G361S	CAPN3_ENST00000357568.3_Missense_Mutation_p.G361S|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.G274S|CAPN3_ENST00000318023.7_Missense_Mutation_p.G361S|CAPN3_ENST00000349748.3_Missense_Mutation_p.G313S	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	361	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GAATCCGTGGGGCCAGGTGGA	0.597																																																	0													78.0	70.0	73.0					15																	42686505		2192	4291	6483	SO:0001583	missense	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1081G>A	15.37:g.42686505G>A	ENSP00000380349:p.Gly361Ser	Somatic		WXS	SOLID	Phase_I	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	36	5.946163	0.97134	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37	5.34	5.34	0.76211	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	U	0.000000	D	0.95778	0.8626	L	0.49256	1.55	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95922	0.8931	10	0.87932	D	0	.	19.2408	0.93881	0.0:0.0:1.0:0.0	.	226;274;313;361;361;274	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	S	274;361;361;313;361	ENSP00000348667:G274S;ENSP00000380349:G361S;ENSP00000350181:G361S;ENSP00000183936:G313S;ENSP00000326281:G361S	ENSP00000326281:G361S	G	+	1	0	CAPN3	40473797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.785000	0.95823	0.655000	0.94253	GGC		0.597	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			
CD4	920	hgsc.bcm.edu	37	12	6909481	6909481	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr12:6909481C>T	ENST00000011653.4	+	3	316	c.58C>T	c.(58-60)Cca>Tca	p.P20S	CD4_ENST00000538827.1_Intron|CD4_ENST00000541982.1_Intron	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	20					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AGCGCTCCTCCCAGCAGCCAC	0.537																																																	0													45.0	49.0	48.0					12																	6909481		2203	4300	6503	SO:0001583	missense	920			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.58C>T	12.37:g.6909481C>T	ENSP00000011653:p.Pro20Ser	Somatic		WXS	SOLID	Phase_I	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696216	0.30052	.	.	ENSG00000010610	ENST00000011653;ENST00000539492	T	0.23552	1.9	4.65	-0.94	0.10405	Immunoglobulin-like (1);	0.575371	0.18054	N	0.153167	T	0.19765	0.0475	M	0.67397	2.05	0.09310	N	1	B	0.25312	0.123	B	0.17979	0.02	T	0.23655	-1.0182	10	0.66056	D	0.02	0.6691	1.6532	0.02776	0.1556:0.3576:0.3037:0.1831	.	20	P01730	CD4_HUMAN	S	20	ENSP00000011653:P20S	ENSP00000011653:P20S	P	+	1	0	CD4	6779742	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.160000	0.16462	-0.087000	0.12528	-0.475000	0.04921	CCA		0.537	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1		NM_000616	
CEP72	55722	hgsc.bcm.edu;ucsc.edu	37	5	624633	624633	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr5:624633T>A	ENST00000264935.5	+	4	541	c.451T>A	c.(451-453)Ttt>Att	p.F151I	CEP72_ENST00000444221.1_Missense_Mutation_p.F151I	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	151					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CCGACTGCATTTTGCATCAGA	0.572																																																	0													84.0	76.0	79.0					5																	624633		2203	4300	6503	SO:0001583	missense	55722			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.451T>A	5.37:g.624633T>A	ENSP00000264935:p.Phe151Ile	Somatic		WXS	SOLID	Phase_I	B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.403871	0.62288	.	.	ENSG00000112877	ENST00000264935;ENST00000444221	T;T	0.24538	2.59;1.85	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.54498	0.1862	M	0.91459	3.21	0.44694	D	0.997689	D	0.65815	0.995	P	0.59424	0.857	T	0.65751	-0.6092	10	0.87932	D	0	-13.4807	13.0845	0.59132	0.0:0.0:0.0:1.0	.	151	Q9P209	CEP72_HUMAN	I	151	ENSP00000264935:F151I;ENSP00000392052:F151I	ENSP00000264935:F151I	F	+	1	0	CEP72	677633	1.000000	0.71417	0.272000	0.24630	0.004000	0.04260	4.474000	0.60203	2.130000	0.65690	0.533000	0.62120	TTT		0.572	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3		NM_018140	
DAB2	1601	hgsc.bcm.edu	37	5	39382723	39382723	+	Silent	SNP	A	A	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr5:39382723A>C	ENST00000320816.6	-	10	1805	c.1338T>G	c.(1336-1338)gcT>gcG	p.A446A	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Silent_p.A425A|DAB2_ENST00000545653.1_Silent_p.A425A|DAB2_ENST00000512525.1_5'Flank	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	446	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AATTCACCTTAGCAGTCCTTC	0.493																																																	0													159.0	161.0	161.0					5																	39382723		2203	4300	6503	SO:0001819	synonymous_variant	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1338T>G	5.37:g.39382723A>C		Somatic		WXS	SOLID	Phase_I	A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	CCDS34149.1																																																																																				0.493	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1		NM_001343	
CDKL3	51265	hgsc.bcm.edu;ucsc.edu	37	5	133643866	133643866	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr5:133643866C>A	ENST00000265334.4	-	9	1445	c.1327G>T	c.(1327-1329)Gca>Tca	p.A443S	CDKL3_ENST00000609654.1_Missense_Mutation_p.A254S|CDKL3_ENST00000523054.1_Missense_Mutation_p.A254S|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000609383.1_Missense_Mutation_p.A148S|CDKL3_ENST00000435240.2_Missense_Mutation_p.A148S|CDKL3_ENST00000521118.1_Missense_Mutation_p.A443S|CDKL3_ENST00000536186.1_Missense_Mutation_p.A148S|CDKL3_ENST00000435211.1_Missense_Mutation_p.A443S|CDKL3_ENST00000521755.1_3'UTR|CDKL3_ENST00000523832.1_Missense_Mutation_p.A443S	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	443					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGAGATTTGCAGCCATCAAA	0.393																																																	0													77.0	74.0	75.0					5																	133643866		1861	4108	5969	SO:0001583	missense	51265			AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.1327G>T	5.37:g.133643866C>A	ENSP00000265334:p.Ala443Ser	Somatic		WXS	SOLID	Phase_I	D3DQA0|D3DQA1|Q9P114	Missense_Mutation	SNP	ENST00000265334.4	37	CCDS47264.1	.	.	.	.	.	.	.	.	.	.	C	7.392	0.630979	0.14322	.	.	ENSG00000006837	ENST00000536186;ENST00000435240;ENST00000265334;ENST00000523054;ENST00000521118;ENST00000523832;ENST00000435211	T;T;T;T;T;T;T	0.73681	0.7;0.64;-0.73;-0.57;-0.77;-0.68;-0.68	5.8	2.86	0.33363	.	0.413650	0.23365	N	0.048974	T	0.47229	0.1434	N	0.11560	0.145	0.25080	N	0.990934	B;B;B;B;B	0.17038	0.005;0.007;0.02;0.001;0.001	B;B;B;B;B	0.21360	0.011;0.011;0.034;0.003;0.003	T	0.21895	-1.0232	10	0.12103	T	0.63	-16.5681	3.4418	0.07466	0.2692:0.4455:0.0:0.2853	.	254;148;148;254;443	B4DX41;B4DRK6;B4DGS2;B7Z2C5;Q8IVW4	.;.;.;.;CDKL3_HUMAN	S	148;148;443;254;443;443;443	ENSP00000441545:A148S;ENSP00000399807:A148S;ENSP00000265334:A443S;ENSP00000428500:A254S;ENSP00000428689:A443S;ENSP00000430496:A443S;ENSP00000395559:A443S	ENSP00000265334:A443S	A	-	1	0	CDKL3	133671765	0.998000	0.40836	0.995000	0.50966	0.743000	0.42351	0.540000	0.23191	0.675000	0.31264	0.650000	0.86243	GCA		0.393	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1		NM_001113575	
DPEP3	64180	hgsc.bcm.edu;ucsc.edu	37	16	68012420	68012420	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr16:68012420T>G	ENST00000268793.4	-	3	972	c.599A>C	c.(598-600)gAg>gCg	p.E200A	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	175					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GGTCACAAGCTCGAGTTCAGA	0.572																																																	0													170.0	154.0	159.0					16																	68012420		2198	4300	6498	SO:0001583	missense	64180			AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.599A>C	16.37:g.68012420T>G	ENSP00000268793:p.Glu200Ala	Somatic		WXS	SOLID	Phase_I	B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	T	9.448	1.089777	0.20390	.	.	ENSG00000141096	ENST00000268793	T	0.21734	1.99	4.88	4.88	0.63580	.	0.053861	0.64402	D	0.000001	T	0.15219	0.0367	L	0.35644	1.08	0.41539	D	0.988505	B	0.22211	0.066	B	0.20577	0.03	T	0.09250	-1.0683	10	0.25106	T	0.35	-0.0814	8.0419	0.30526	0.1811:0.0:0.0:0.8189	.	175	Q9H4B8	DPEP3_HUMAN	A	200	ENSP00000268793:E200A	ENSP00000268793:E200A	E	-	2	0	DPEP3	66569921	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	1.150000	0.31639	1.841000	0.53522	0.459000	0.35465	GAG		0.572	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3		NM_022357	
DPP9	91039	hgsc.bcm.edu;ucsc.edu	37	19	4719879	4719879	+	5'UTR	SNP	T	T	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr19:4719879T>C	ENST00000598800.1	-	0	260				DPP9_ENST00000597849.1_Missense_Mutation_p.T14A|DPP9_ENST00000262960.9_Missense_Mutation_p.T14A			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9							cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CAACTTCCGGTGTTCTCCTTG	0.587																																																	0													104.0	103.0	103.0					19																	4719879		692	1591	2283	SO:0001623	5_prime_UTR_variant	91039			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.-246A>G	19.37:g.4719879T>C		Somatic		WXS	SOLID	Phase_I	O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37		.	.	.	.	.	.	.	.	.	.	T	8.888	0.953381	0.18431	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.28895	1.59	3.29	1.09	0.20402	.	0.387601	0.20027	N	0.100792	T	0.10078	0.0247	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19745	-1.0296	10	0.25751	T	0.34	-2.2608	2.152	0.03802	0.231:0.2775:0.0:0.4915	.	14	Q1ZZB8	.	A	93;93;14	ENSP00000262960:T14A	ENSP00000262960:T14A	T	-	1	0	DPP9	4670879	0.548000	0.26473	0.012000	0.15200	0.894000	0.52154	-0.335000	0.07873	-0.025000	0.13918	0.459000	0.35465	ACC		0.587	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			
AGO3	192669	hgsc.bcm.edu	37	1	36474310	36474310	+	Silent	SNP	T	T	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr1:36474310T>A	ENST00000373191.4	+	7	1162	c.813T>A	c.(811-813)acT>acA	p.T271T	RP4-665N4.8_ENST00000466576.2_RNA|RP4-665N4.8_ENST00000479395.2_RNA|AGO3_ENST00000246314.6_Silent_p.T37T	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	271	PAZ. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										TTGAAGTGACTCATTGTGGAA	0.388																																																	0													72.0	75.0	74.0					1																	36474310		2203	4300	6503	SO:0001819	synonymous_variant	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.813T>A	1.37:g.36474310T>A		Somatic		WXS	SOLID	Phase_I	B1ALI0|Q5TA55|Q9H1U6	Silent	SNP	ENST00000373191.4	37	CCDS399.1																																																																																				0.388	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4		NM_024852	
EML4	27436	hgsc.bcm.edu;ucsc.edu	37	2	42510110	42510110	+	Silent	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr2:42510110A>G	ENST00000318522.5	+	8	1201	c.939A>G	c.(937-939)aaA>aaG	p.K313K	EML4_ENST00000401738.3_Silent_p.K324K|EML4_ENST00000402711.2_Silent_p.K255K	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	313					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACTGTGTGAAATGGTTGGTAT	0.353			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													104.0	107.0	106.0					2																	42510110		2203	4300	6503	SO:0001819	synonymous_variant	27436			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.939A>G	2.37:g.42510110A>G		Somatic		WXS	SOLID	Phase_I	A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP	ENST00000318522.5	37	CCDS1807.1																																																																																				0.353	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3		NM_019063	
FAM13A	10144	hgsc.bcm.edu;ucsc.edu	37	4	89702427	89702427	+	Silent	SNP	G	G	T	rs543539437		TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr4:89702427G>T	ENST00000264344.5	-	11	1554	c.1347C>A	c.(1345-1347)gtC>gtA	p.V449V	FAM13A_ENST00000508369.1_Silent_p.V123V|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000513837.1_Silent_p.V95V|FAM13A_ENST00000395002.2_Silent_p.V123V|FAM13A_ENST00000503556.1_Silent_p.V109V|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	449					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GTACCTTTTCGACTTCCTGAG	0.373																																																	0													107.0	105.0	105.0					4																	89702427		2203	4300	6503	SO:0001819	synonymous_variant	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1347C>A	4.37:g.89702427G>T		Somatic		WXS	SOLID	Phase_I	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	CCDS34029.1																																																																																				0.373	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			
FHAD1	114827	hgsc.bcm.edu;ucsc.edu	37	1	15695983	15695983	+	Silent	SNP	C	C	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr1:15695983C>T	ENST00000375998.4	+	24	3366	c.3366C>T	c.(3364-3366)ttC>ttT	p.F1122F	FHAD1_ENST00000417793.1_Silent_p.F1086F|FHAD1_ENST00000471347.1_3'UTR|FHAD1_ENST00000375999.3_Silent_p.F1122F|FHAD1_ENST00000314740.8_Silent_p.F375F|FHAD1_ENST00000358897.4_Silent_p.F1122F			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	1122										skin(1)|stomach(1)	2						CTGAGGCCTTCTCCAGCAGCC	0.547																																																	0													62.0	79.0	74.0					1																	15695983		692	1591	2283	SO:0001819	synonymous_variant	114827			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.3366C>T	1.37:g.15695983C>T		Somatic		WXS	SOLID	Phase_I	Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Silent	SNP	ENST00000375998.4	37		.	.	.	.	.	.	.	.	.	.	C	2.245	-0.372865	0.05034	.	.	ENSG00000142621	ENST00000444385	.	.	.	3.86	-0.445	0.12242	.	.	.	.	.	T	0.21468	0.0517	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25572	-1.0128	4	.	.	.	.	2.7507	0.05280	0.1769:0.3744:0.3451:0.1036	.	.	.	.	F	441	.	.	S	+	2	0	FHAD1	15568570	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.550000	0.23345	-0.048000	0.13401	-0.314000	0.08810	TCT		0.547	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000393400.2		NM_052929	
FOXN3	1112	hgsc.bcm.edu;ucsc.edu	37	14	89656758	89656758	+	Silent	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr14:89656758A>G	ENST00000345097.4	-	5	897	c.781T>C	c.(781-783)Ttg>Ctg	p.L261L	FOXN3_ENST00000261302.5_Silent_p.L261L|FOXN3_ENST00000557258.1_Intron|FOXN3_ENST00000555353.1_Intron	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	261					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGAGTATTCAAAAGCATCATG	0.413																																																	0													97.0	94.0	95.0					14																	89656758		1943	4164	6107	SO:0001819	synonymous_variant	1112				CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.781T>C	14.37:g.89656758A>G		Somatic		WXS	SOLID	Phase_I	Q96II7|Q9UIE7	Silent	SNP	ENST00000345097.4	37	CCDS41977.1																																																																																				0.413	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2		NM_005197	
GBA2	57704	hgsc.bcm.edu;ucsc.edu	37	9	35738047	35738047	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr9:35738047T>C	ENST00000378103.3	-	15	2823	c.2300A>G	c.(2299-2301)gAa>gGa	p.E767G	GBA2_ENST00000545786.1_Missense_Mutation_p.E773G|GBA2_ENST00000378088.1_Missense_Mutation_p.E68G|GBA2_ENST00000378094.4_Missense_Mutation_p.E767G|GBA2_ENST00000467252.1_5'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	767					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTGTCTCCTTCTCCTAGGCC	0.522																																																	0													37.0	32.0	34.0					9																	35738047		2203	4300	6503	SO:0001583	missense	57704			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.2300A>G	9.37:g.35738047T>C	ENSP00000367343:p.Glu767Gly	Somatic		WXS	SOLID	Phase_I	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.527795	0.44969	.	.	ENSG00000070610	ENST00000378103;ENST00000378088;ENST00000378094;ENST00000545786	.	.	.	5.8	5.8	0.92144	Six-hairpin glycosidase-like (1);Glucosylceramidase (1);	0.166092	0.53938	D	0.000050	T	0.54415	0.1857	L	0.53249	1.67	0.47994	D	0.999569	P;B;P;P	0.43231	0.763;0.372;0.485;0.801	B;B;B;B	0.41374	0.242;0.163;0.173;0.355	T	0.60234	-0.7303	9	0.66056	D	0.02	-22.9755	11.7778	0.51995	0.0:0.0:0.1468:0.8532	.	773;767;595;767	F5H7P6;Q9HCG7-2;B4DMF0;Q9HCG7	.;.;.;GBA2_HUMAN	G	767;68;767;773	.	ENSP00000367328:E68G	E	-	2	0	GBA2	35728047	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.107000	0.71517	2.224000	0.72417	0.533000	0.62120	GAA		0.522	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1		NM_020944	
GJB1	2705	hgsc.bcm.edu	37	X	70444041	70444041	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chrX:70444041A>T	ENST00000374022.3	+	2	579	c.484A>T	c.(484-486)Atg>Ttg	p.M162L	GJB1_ENST00000361726.6_Missense_Mutation_p.M162L|GJB1_ENST00000374029.1_Missense_Mutation_p.M162L	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	162					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)|purine ribonucleotide transport (GO:0015868)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					TGGCTATGCCATGGTGCGGCT	0.562																																																	0													164.0	131.0	142.0					X																	70444041		2203	4299	6502	SO:0001583	missense	2705			X04325	CCDS14408.1	Xq13.1	2014-09-17	2007-01-16		ENSG00000169562	ENSG00000169562		"""Ion channels / Gap junction proteins (connexins)"""	4283	protein-coding gene	gene with protein product	"""Charcot-Marie-Tooth neuropathy, X-linked"", ""connexin 32"""	304040	"""gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)"", ""gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)"", ""gap junction protein, beta 1, 32kDa (connexin 32)"""	CMTX1, CMTX		1319395	Standard	NM_000166		Approved	CX32	uc004dzf.3	P08034	OTTHUMG00000021797	ENST00000374022.3:c.484A>T	X.37:g.70444041A>T	ENSP00000363134:p.Met162Leu	Somatic		WXS	SOLID	Phase_I	B2R8R2|D3DVV2|Q5U0S4	Missense_Mutation	SNP	ENST00000374022.3	37	CCDS14408.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.257163	0.22965	.	.	ENSG00000169562	ENST00000374029;ENST00000374022;ENST00000361726	D;D;D	0.94758	-3.51;-3.51;-3.51	4.81	4.81	0.61882	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.90369	0.6986	L	0.28344	0.845	0.80722	D	1	B	0.26120	0.142	B	0.39258	0.295	D	0.84200	0.0450	10	0.05351	T	0.99	.	13.6246	0.62157	1.0:0.0:0.0:0.0	.	162	P08034	CXB1_HUMAN	L	162	ENSP00000363141:M162L;ENSP00000363134:M162L;ENSP00000354900:M162L	ENSP00000354900:M162L	M	+	1	0	GJB1	70360766	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.136000	0.94489	1.790000	0.52503	0.480000	0.44947	ATG		0.562	GJB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057133.1		NM_000166	
HARS	3035	hgsc.bcm.edu;ucsc.edu	37	5	140057269	140057269	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr5:140057269T>C	ENST00000504156.1	-	7	1419	c.700A>G	c.(700-702)Atc>Gtc	p.I234V	HARS_ENST00000307633.3_Missense_Mutation_p.I174V|HARS_ENST00000504366.1_Missense_Mutation_p.I165V|HARS_ENST00000431330.2_Missense_Mutation_p.I120V|HARS_ENST00000457527.2_Missense_Mutation_p.I214V|HARS_ENST00000448240.1_Intron|HARS_ENST00000438307.2_Missense_Mutation_p.I194V|HARS_ENST00000415192.2_Missense_Mutation_p.I160V	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	234					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GAGGAGCAGATGGTACGGAAC	0.478																																																	0													238.0	228.0	232.0					5																	140057269		2203	4300	6503	SO:0001583	missense	3035			AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.700A>G	5.37:g.140057269T>C	ENSP00000425634:p.Ile234Val	Somatic		WXS	SOLID	Phase_I	B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.679215	0.47886	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000504366;ENST00000307633;ENST00000438307;ENST00000415192;ENST00000507746	T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	4.97	4.97	0.65823	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	T	0.46718	0.1407	L	0.50993	1.605	0.80722	D	1	B;B;P;B;B;B;B;B	0.38565	0.009;0.387;0.637;0.198;0.044;0.071;0.08;0.044	B;B;P;B;B;B;B;B	0.51016	0.008;0.138;0.656;0.199;0.199;0.1;0.199;0.074	T	0.34502	-0.9826	10	0.24483	T	0.36	-4.184	8.5306	0.33333	0.0:0.1502:0.0:0.8498	.	124;120;160;174;194;234;214;234	B4DEA2;B4E1C5;B4DDD8;B4DHQ1;B4DY73;Q52NV4;D6REN6;P12081	.;.;.;.;.;.;.;SYHC_HUMAN	V	234;214;120;165;174;194;160;124	ENSP00000425634:I234V;ENSP00000387893:I214V;ENSP00000393244:I120V;ENSP00000430063:I165V;ENSP00000304668:I174V;ENSP00000411511:I194V;ENSP00000411085:I160V;ENSP00000425889:I124V	ENSP00000304668:I174V	I	-	1	0	HARS	140037453	0.998000	0.40836	1.000000	0.80357	0.973000	0.67179	2.060000	0.41394	2.209000	0.71365	0.533000	0.62120	ATC		0.478	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2		NM_002109	
HECW1	23072	hgsc.bcm.edu	37	7	43484310	43484310	+	Silent	SNP	T	T	C	rs73098706	byFrequency	TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr7:43484310T>C	ENST00000395891.2	+	11	2144	c.1539T>C	c.(1537-1539)tcT>tcC	p.S513S	HECW1_ENST00000453890.1_Silent_p.S513S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	513	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GAGATGTGTCTACCCTGGAGC	0.632													T|||	1478	0.295128	0.2307	0.2839	5008	,	,		18387	0.1508		0.4155	False		,,,				2504	0.4151																0								T		1038,3216		138,762,1227	26.0	33.0	31.0		1539	-5.1	0.0	7	dbSNP_130	31	3277,5169		673,1931,1619	no	coding-synonymous	HECW1	NM_015052.3		811,2693,2846	CC,CT,TT		38.7994,24.4006,33.9764		513/1607	43484310	4315,8385	2127	4223	6350	SO:0001819	synonymous_variant	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1539T>C	7.37:g.43484310T>C		Somatic		WXS	SOLID	Phase_I	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	CCDS5469.2																																																																																				0.632	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2		NM_015052	
HERC1	8925	hgsc.bcm.edu;ucsc.edu	37	15	64005044	64005044	+	Missense_Mutation	SNP	T	T	C	rs567272238		TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr15:64005044T>C	ENST00000443617.2	-	24	4601	c.4514A>G	c.(4513-4515)tAt>tGt	p.Y1505C	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1505					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GATCAGTCTATAATTTGGGCT	0.408													T|||	1	0.000199681	0.0	0.0	5008	,	,		18569	0.0		0.001	False		,,,				2504	0.0																0													67.0	63.0	64.0					15																	64005044		1884	4101	5985	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4514A>G	15.37:g.64005044T>C	ENSP00000390158:p.Tyr1505Cys	Somatic		WXS	SOLID	Phase_I	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.039596	0.35989	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.31769	1.48	5.42	5.42	0.78866	.	0.000000	0.64402	U	0.000002	T	0.20618	0.0496	N	0.12182	0.205	0.52501	D	0.999952	B;B	0.16802	0.019;0.001	B;B	0.15052	0.012;0.002	T	0.03473	-1.1033	10	0.46703	T	0.11	.	15.7503	0.77980	0.0:0.0:0.0:1.0	.	489;1505	B4DKS2;Q15751	.;HERC1_HUMAN	C	1505;489	ENSP00000390158:Y1505C	ENSP00000389613:Y489C	Y	-	2	0	HERC1	61792097	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	4.593000	0.61034	2.180000	0.69256	0.459000	0.35465	TAT		0.408	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922	
HSP90AA1	3320	hgsc.bcm.edu;ucsc.edu	37	14	102550300	102550300	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr14:102550300C>T	ENST00000216281.8	-	7	1373	c.1168G>A	c.(1168-1170)Gac>Aac	p.D390N	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.D211N|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.D512N	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	390					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TCCTCCGAGTCTACCACCCCT	0.363																																																	0													37.0	41.0	40.0					14																	102550300		2202	4298	6500	SO:0001583	missense	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1168G>A	14.37:g.102550300C>T	ENSP00000216281:p.Asp390Asn	Somatic		WXS	SOLID	Phase_I	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	29.2	4.987483	0.93106	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.19806	2.12;2.12;2.12	3.85	3.85	0.44370	Ribosomal protein S5 domain 2-type fold (1);	0.124211	0.51477	U	0.000096	T	0.68760	0.3036	H	0.99884	4.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.85746	0.1340	10	0.87932	D	0	.	15.7418	0.77905	0.0:1.0:0.0:0.0	.	211;512;390	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	N	390;512;211	ENSP00000216281:D390N;ENSP00000335153:D512N;ENSP00000396189:D211N	ENSP00000216281:D390N	D	-	1	0	HSP90AA1	101620053	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.760000	0.68793	1.868000	0.54150	0.561000	0.74099	GAC		0.363	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2		NM_005348	
HYAL1	3373	hgsc.bcm.edu;ucsc.edu	37	3	50338003	50338003	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr3:50338003C>T	ENST00000266031.4	-	3	1834	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	HYAL1_ENST00000395144.2_Missense_Mutation_p.E407K|NAT6_ENST00000417393.1_5'Flank|HYAL3_ENST00000336307.1_5'Flank|HYAL1_ENST00000447605.2_Missense_Mutation_p.E148K|NAT6_ENST00000354862.4_5'Flank|HYAL3_ENST00000359051.3_5'Flank|HYAL3_ENST00000450982.1_5'Flank|HYAL3_ENST00000513170.1_5'Flank|HYAL3_ENST00000415204.1_5'Flank|NAT6_ENST00000443842.1_5'Flank|HYAL1_ENST00000395143.2_Missense_Mutation_p.E377K|HYAL1_ENST00000320295.8_Missense_Mutation_p.E407K|HYAL1_ENST00000457214.2_Missense_Mutation_p.E225K|NAT6_ENST00000443094.2_5'Flank			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	407	EGF-like.				carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCCTGATCTTCAAGTGAGAGG	0.607																																																	0													89.0	89.0	89.0					3																	50338003		2203	4300	6503	SO:0001583	missense	3373			U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.1219G>A	3.37:g.50338003C>T	ENSP00000266031:p.Glu407Lys	Somatic		WXS	SOLID	Phase_I	Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	ENST00000266031.4	37	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499276	0.26861	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000457214;ENST00000447605	T;T;T;T;T;T	0.30448	2.28;2.28;2.28;1.95;1.54;1.53	5.39	1.32	0.21799	Epidermal growth factor-like (1);	0.865966	0.10383	N	0.681269	T	0.16385	0.0394	N	0.17379	0.485	0.09310	N	0.999999	B;B	0.15930	0.015;0.003	B;B	0.15484	0.013;0.004	T	0.33803	-0.9854	10	0.09590	T	0.72	-5.2419	8.8959	0.35465	0.0:0.6571:0.0:0.3429	.	377;407	Q12794-2;Q12794	.;HYAL1_HUMAN	K	407;407;407;377;225;148	ENSP00000378576:E407K;ENSP00000266031:E407K;ENSP00000346068:E407K;ENSP00000378575:E377K;ENSP00000393358:E225K;ENSP00000390149:E148K	ENSP00000266031:E407K	E	-	1	0	HYAL1	50313007	0.000000	0.05858	0.127000	0.21898	0.066000	0.16364	0.052000	0.14163	0.200000	0.20447	0.462000	0.41574	GAA		0.607	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			
IKZF2	22807	hgsc.bcm.edu;ucsc.edu	37	2	213872774	213872774	+	Silent	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr2:213872774A>G	ENST00000434687.1	-	9	1200	c.891T>C	c.(889-891)atT>atC	p.I297I	IKZF2_ENST00000374327.4_Silent_p.I152I|IKZF2_ENST00000342002.2_Silent_p.I303I|IKZF2_ENST00000374319.4_Silent_p.I271I|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000457361.1_Silent_p.I297I|IKZF2_ENST00000451136.2_Silent_p.I225I|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000421754.2_Silent_p.I223I			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	297					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TATCAAAGTGAATATCTGGGT	0.403																																																	0													56.0	54.0	55.0					2																	213872774		2203	4300	6503	SO:0001819	synonymous_variant	22807			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.891T>C	2.37:g.213872774A>G		Somatic		WXS	SOLID	Phase_I	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Silent	SNP	ENST00000434687.1	37	CCDS2395.1																																																																																				0.403	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3		NM_016260	
KIAA0355	9710	hgsc.bcm.edu	37	19	34819026	34819026	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr19:34819026G>T	ENST00000299505.6	+	6	1947	c.1074G>T	c.(1072-1074)gaG>gaT	p.E358D		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	358										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CCTTTAATGAGTCGGCCGCCG	0.532																																																	0													57.0	59.0	58.0					19																	34819026		2203	4300	6503	SO:0001583	missense	9710				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1074G>T	19.37:g.34819026G>T	ENSP00000299505:p.Glu358Asp	Somatic		WXS	SOLID	Phase_I	Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301291	0.81136	.	.	ENSG00000166398	ENST00000299505;ENST00000543188	.	.	.	5.55	2.23	0.28157	.	0.000000	0.85682	D	0.000000	T	0.51873	0.1700	N	0.14661	0.345	0.51482	D	0.999927	D	0.61697	0.99	D	0.73380	0.98	T	0.57573	-0.7788	9	0.87932	D	0	-11.7772	10.6379	0.45575	0.2109:0.0:0.7891:0.0	.	358	O15063	K0355_HUMAN	D	358;61	.	ENSP00000299505:E358D	E	+	3	2	KIAA0355	39510866	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.972000	0.49256	1.293000	0.44690	0.544000	0.68410	GAG		0.532	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4		NM_014686	
TESPA1	9840	hgsc.bcm.edu;ucsc.edu	37	12	55356811	55356811	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr12:55356811A>G	ENST00000449076.1	-	9	1003	c.871T>C	c.(871-873)Tgt>Cgt	p.C291R	TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000524622.1_Missense_Mutation_p.C153R|TESPA1_ENST00000532804.1_Missense_Mutation_p.C153R|TESPA1_ENST00000316577.8_Missense_Mutation_p.C291R|TESPA1_ENST00000531122.1_Missense_Mutation_p.C153R	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	291					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											GTGTACAGACACATCTTGGAG	0.542																																																	0													73.0	74.0	73.0					12																	55356811		1961	4135	6096	SO:0001583	missense	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.871T>C	12.37:g.55356811A>G	ENSP00000400892:p.Cys291Arg	Somatic		WXS	SOLID	Phase_I	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.088741	0.76756	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68561	-0.5376	10	0.42905	T	0.14	-13.8196	12.2763	0.54737	1.0:0.0:0.0:0.0	.	291	A2RU30	K0748_HUMAN	R	153;153;291;291;153	ENSP00000435622:C153R;ENSP00000432030:C153R;ENSP00000400892:C291R;ENSP00000312679:C291R;ENSP00000433098:C153R	ENSP00000312679:C291R	C	-	1	0	KIAA0748	53643078	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.819000	0.86621	2.213000	0.71641	0.533000	0.62120	TGT		0.542	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1		NM_001098815	
LYST	1130	hgsc.bcm.edu;ucsc.edu	37	1	235904825	235904825	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr1:235904825A>C	ENST00000389794.3	-	31	8429	c.8255T>G	c.(8254-8256)tTg>tGg	p.L2752W	LYST_ENST00000389793.2_Missense_Mutation_p.L2752W			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2752					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGCTGGCGACAAAATATGCAC	0.443																																																	0													167.0	145.0	153.0					1																	235904825		2203	4300	6503	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8255T>G	1.37:g.235904825A>C	ENSP00000374444:p.Leu2752Trp	Somatic		WXS	SOLID	Phase_I	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.165818	0.57476	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.70516	-0.49;-0.49	5.11	3.98	0.46160	.	0.354031	0.28349	N	0.015664	T	0.79656	0.4483	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.80997	-0.1132	10	0.87932	D	0	.	9.2087	0.37304	0.9171:0.0:0.0829:0.0	.	2752	Q99698	LYST_HUMAN	W	2752	ENSP00000374444:L2752W;ENSP00000374443:L2752W	ENSP00000374443:L2752W	L	-	2	0	LYST	233971448	1.000000	0.71417	0.966000	0.40874	0.394000	0.30568	6.350000	0.73017	2.059000	0.61396	0.482000	0.46254	TTG		0.443	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			
MAML1	9794	hgsc.bcm.edu	37	5	179195993	179195993	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr5:179195993A>G	ENST00000292599.3	+	3	2137	c.1874A>G	c.(1873-1875)cAg>cGg	p.Q625R	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCAGCATCAGTTGCTTTTG	0.557																																																	0													104.0	103.0	104.0					5																	179195993		2203	4300	6503	SO:0001583	missense	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1874A>G	5.37:g.179195993A>G	ENSP00000292599:p.Gln625Arg	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000292599.3	37	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.885261	0.51908	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.49432	0.78	4.72	4.72	0.59763	.	0.180330	0.38381	N	0.001706	T	0.52386	0.1731	M	0.81802	2.56	0.52501	D	0.999959	P;B	0.41848	0.763;0.242	B;B	0.39840	0.311;0.059	T	0.62205	-0.6903	10	0.66056	D	0.02	-4.5613	13.8754	0.63648	1.0:0.0:0.0:0.0	.	662;625	Q59GH4;Q92585	.;MAML1_HUMAN	R	625;662	ENSP00000292599:Q625R	ENSP00000292599:Q625R	Q	+	2	0	MAML1	179128599	0.997000	0.39634	0.893000	0.35052	0.992000	0.81027	4.146000	0.58072	1.758000	0.51981	0.459000	0.35465	CAG		0.557	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2		NM_014757	
MBLAC1	255374	hgsc.bcm.edu;ucsc.edu	37	7	99725646	99725646	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr7:99725646C>A	ENST00000398075.2	+	2	1027	c.628C>A	c.(628-630)Ccc>Acc	p.P210T	AC073842.19_ENST00000376482.3_RNA|RP11-506M12.1_ENST00000494221.1_RNA	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	210							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						GAGTGAAGACCCCGCAGCCCA	0.662																																																	0													35.0	44.0	41.0					7																	99725646		2084	4214	6298	SO:0001583	missense	255374			BC031288	CCDS43620.1	7q22	2014-02-12	2009-04-08		ENSG00000214309	ENSG00000214309			22180	protein-coding gene	gene with protein product							Standard	XM_005250250		Approved	MGC49416	uc003utp.3	A4D2B0	OTTHUMG00000154846	ENST00000398075.2:c.628C>A	7.37:g.99725646C>A	ENSP00000381150:p.Pro210Thr	Somatic		WXS	SOLID	Phase_I	Q8N5X8	Missense_Mutation	SNP	ENST00000398075.2	37	CCDS43620.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528404	0.64860	.	.	ENSG00000214309	ENST00000398075	T	0.80566	-1.39	4.68	4.68	0.58851	Beta-lactamase-like (2);	0.216210	0.29806	U	0.011158	T	0.80768	0.4686	L	0.46670	1.46	0.46131	D	0.99888	P	0.47484	0.896	P	0.51516	0.672	T	0.76812	-0.2821	10	0.20519	T	0.43	.	15.1263	0.72486	0.0:1.0:0.0:0.0	.	210	A4D2B0	MBLC1_HUMAN	T	210	ENSP00000381150:P210T	ENSP00000381150:P210T	P	+	1	0	MBLAC1	99563582	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	2.467000	0.45093	2.440000	0.82611	0.561000	0.74099	CCC		0.662	MBLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337353.1		NM_203397	
MGAT4B	11282	hgsc.bcm.edu	37	5	179228972	179228972	+	Intron	SNP	G	G	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr5:179228972G>T	ENST00000292591.7	-	2	448				MGAT4B_ENST00000521305.1_Intron|MGAT4B_ENST00000337755.5_Missense_Mutation_p.A47E	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B						cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AACGTCGCCTGCAGGTGGTAG	0.642											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(13;414 434 4098 22176 23230)												0													56.0	64.0	61.0					5																	179228972		2203	4300	6503	SO:0001627	intron_variant	11282			AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.98-3C>A	5.37:g.179228972G>T		Somatic	1952	WXS	SOLID	Phase_I	A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	ENST00000292591.7	37	CCDS4448.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534824	0.27475	.	.	ENSG00000161013	ENST00000337755	T	0.31769	1.48	5.07	5.07	0.68467	.	0.572493	0.12820	U	0.436539	T	0.14700	0.0355	N	0.08118	0	0.80722	D	1	B	0.19583	0.037	B	0.14023	0.01	T	0.03945	-1.0990	10	0.05833	T	0.94	6.4856	11.8818	0.52579	0.0806:0.0:0.9194:0.0	.	47	A8MPR0	.	E	47	ENSP00000338487:A47E	ENSP00000338487:A47E	A	-	2	0	MGAT4B	179161578	1.000000	0.71417	0.936000	0.37596	0.410000	0.31052	4.980000	0.63812	2.364000	0.80123	0.505000	0.49811	GCA		0.642	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3		NM_014275	
MRPL54	116541	hgsc.bcm.edu	37	19	3762705	3762705	+	Missense_Mutation	SNP	A	A	G	rs148456964	byFrequency	TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr19:3762705A>G	ENST00000330133.4	+	1	44	c.7A>G	c.(7-9)Acc>Gcc	p.T3A	APBA3_ENST00000316757.3_5'Flank	NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	3						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCATGGCGACCAAACGCCT	0.637													A|||	8	0.00159744	0.0	0.0043	5008	,	,		14551	0.0		0.004	False		,,,				2504	0.001																0								A	ALA/THR	2,4404	2.1+/-5.4	0,2,2201	65.0	74.0	71.0		7	2.1	1.0	19	dbSNP_134	71	43,8557	26.8+/-75.7	1,41,4258	yes	missense	MRPL54	NM_172251.2	58	1,43,6459	GG,GA,AA		0.5,0.0454,0.346	benign	3/139	3762705	45,12961	2203	4300	6503	SO:0001583	missense	116541				CCDS12111.1	19p13.3	2012-11-14			ENSG00000183617	ENSG00000183617		"""Mitochondrial ribosomal proteins / large subunits"""	16685	protein-coding gene	gene with protein product		611858				11551941	Standard	NM_172251		Approved		uc002lyq.4	Q6P161	OTTHUMG00000180873	ENST00000330133.4:c.7A>G	19.37:g.3762705A>G	ENSP00000331849:p.Thr3Ala	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000330133.4	37	CCDS12111.1	5	0.0022893772893772895	0	0.0	2	0.0055248618784530384	0	0.0	3	0.00395778364116095	A	0.079	-1.187929	0.01607	4.54E-4	0.005	ENSG00000183617	ENST00000330133	.	.	.	5.33	2.07	0.26955	.	0.649872	0.14709	N	0.303088	T	0.08891	0.0220	N	0.04203	-0.255	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.31779	-0.9931	9	0.02654	T	1	-20.4201	6.6319	0.22861	0.293:0.0:0.707:0.0	.	3	Q6P161	RM54_HUMAN	A	3	.	ENSP00000331849:T3A	T	+	1	0	MRPL54	3713705	0.063000	0.20901	0.988000	0.46212	0.023000	0.10783	-0.060000	0.11712	1.237000	0.43756	-0.366000	0.07423	ACC		0.637	MRPL54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453443.1		NM_172251	
MSH6	2956	hgsc.bcm.edu;ucsc.edu	37	2	48027971	48027971	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr2:48027971G>T	ENST00000234420.5	+	4	3001	c.2849G>T	c.(2848-2850)aGc>aTc	p.S950I	MSH6_ENST00000540021.1_Missense_Mutation_p.S820I|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.S648I	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	950					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATGAACAGAGCCTCCTGGAA	0.458			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											44.0	44.0	44.0					2																	48027971		2203	4300	6503	SO:0001583	missense	2956	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2849G>T	2.37:g.48027971G>T	ENSP00000234420:p.Ser950Ile	Somatic		WXS	SOLID	Phase_I	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857345	0.51376	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.90069	-2.61;-2.61;-2.61	5.61	4.7	0.59300	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.255501	0.44483	D	0.000459	D	0.87724	0.6249	L	0.52011	1.625	0.80722	D	1	P;P;P	0.52061	0.82;0.773;0.95	P;P;P	0.52267	0.588;0.449;0.694	D	0.87191	0.2234	10	0.72032	D	0.01	-14.3294	5.1921	0.15214	0.1786:0.1869:0.6344:0.0	.	820;950;950	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	I	950;948;820;648	ENSP00000234420:S950I;ENSP00000446475:S820I;ENSP00000438580:S648I	ENSP00000234420:S950I	S	+	2	0	MSH6	47881475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.261000	0.51530	2.634000	0.89283	0.563000	0.77884	AGC		0.458	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4		NM_000179	
NCCRP1	342897	hgsc.bcm.edu;ucsc.edu	37	19	39688861	39688861	+	Silent	SNP	C	C	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr19:39688861C>T	ENST00000339852.4	+	3	442	c.420C>T	c.(418-420)taC>taT	p.Y140Y		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	140	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GTGGCTGGTACATTAGAACTG	0.582																																					Melanoma(107;1207 1556 14956 29427 52130)												0													115.0	119.0	118.0					19																	39688861		2203	4300	6503	SO:0001819	synonymous_variant	342897			AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.420C>T	19.37:g.39688861C>T		Somatic		WXS	SOLID	Phase_I	Q6NVV5	Silent	SNP	ENST00000339852.4	37	CCDS12529.1																																																																																				0.582	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1		NM_001001414	
NCOA3	8202	hgsc.bcm.edu;ucsc.edu	37	20	46265231	46265231	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr20:46265231A>C	ENST00000371998.3	+	12	2292	c.2101A>C	c.(2101-2103)Att>Ctt	p.I701L	NCOA3_ENST00000371997.3_Missense_Mutation_p.I711L|NCOA3_ENST00000372004.3_Missense_Mutation_p.I701L|NCOA3_ENST00000341724.6_Missense_Mutation_p.I711L			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	701					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGTAGCCAAGATTACTGCAGA	0.468																																																	0													60.0	61.0	61.0					20																	46265231		2203	4300	6503	SO:0001583	missense	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.2101A>C	20.37:g.46265231A>C	ENSP00000361066:p.Ile701Leu	Somatic		WXS	SOLID	Phase_I	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.099037	0.37048	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.73	5.73	0.89815	Steroid receptor coactivator (1);Nuclear receptor coactivator Src-1 (1);	0.000000	0.85682	D	0.000000	T	0.35682	0.0940	N	0.20610	0.595	0.58432	D	0.999998	B;D;B;B;B;B	0.67145	0.066;0.996;0.066;0.066;0.142;0.171	B;D;B;B;B;B	0.73380	0.272;0.98;0.272;0.272;0.178;0.272	T	0.06770	-1.0808	10	0.02654	T	1	-27.572	16.3197	0.82945	1.0:0.0:0.0:0.0	.	701;711;705;701;701;701	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	L	701;711;701;701;711	ENSP00000342123:I711L;ENSP00000361073:I701L;ENSP00000361066:I701L;ENSP00000361065:I711L	ENSP00000345671:I701L	I	+	1	0	NCOA3	45698638	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.871000	0.75531	2.302000	0.77476	0.533000	0.62120	ATT		0.468	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1		NM_006534	
OR2C3	81472	hgsc.bcm.edu	37	1	247695344	247695344	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr1:247695344C>T	ENST00000366487.3	-	2	831	c.470G>A	c.(469-471)aGc>aAc	p.S157N	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GCCCACCATGCTGGTGGTCAG	0.557																																																	0													49.0	48.0	49.0					1																	247695344		2203	4300	6503	SO:0001583	missense	81472			BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.470G>A	1.37:g.247695344C>T	ENSP00000355443:p.Ser157Asn	Somatic		WXS	SOLID	Phase_I	Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	C	11.54	1.667939	0.29604	.	.	ENSG00000196242	ENST00000366487	T	0.44881	0.91	3.89	0.614	0.17603	GPCR, rhodopsin-like superfamily (1);	0.422095	0.16903	U	0.194830	T	0.48960	0.1529	H	0.94345	3.525	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.54669	-0.8259	10	0.87932	D	0	.	4.4839	0.11780	0.0:0.4321:0.3565:0.2114	.	157	Q8N628	OR2C3_HUMAN	N	157	ENSP00000355443:S157N	ENSP00000355443:S157N	S	-	2	0	OR2C3	245761967	0.000000	0.05858	0.024000	0.17045	0.972000	0.66771	0.041000	0.13927	0.394000	0.25230	0.650000	0.86243	AGC		0.557	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2		NM_198074	
OR51B4	79339	hgsc.bcm.edu;ucsc.edu	37	11	5322937	5322937	+	Silent	SNP	C	C	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr11:5322937C>T	ENST00000380224.1	-	1	289	c.240G>A	c.(238-240)ctG>ctA	p.L80L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	80					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGGACACCCAGGACTGTGG	0.507																																																	0													130.0	120.0	124.0					11																	5322937		2201	4297	6498	SO:0001819	synonymous_variant	79339			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.240G>A	11.37:g.5322937C>T		Somatic		WXS	SOLID	Phase_I	A7MAV5|Q6NTD7	Silent	SNP	ENST00000380224.1	37	CCDS7757.1																																																																																				0.507	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2		NM_033179	
PAH	5053	hgsc.bcm.edu;ucsc.edu	37	12	103246688	103246688	+	Silent	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr12:103246688A>G	ENST00000553106.1	-	7	1219	c.747T>C	c.(745-747)ctT>ctC	p.L249L	PAH_ENST00000551988.1_5'Flank|PAH_ENST00000307000.2_Silent_p.L244L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	249			L -> F (in PKU; haplotype 1).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CCCGAGAGGAAAGCAGGCCAG	0.542																																																	0													76.0	84.0	81.0					12																	103246688		2203	4300	6503	SO:0001819	synonymous_variant	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.747T>C	12.37:g.103246688A>G		Somatic		WXS	SOLID	Phase_I	Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	37	CCDS9092.1																																																																																				0.542	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			
PCID2	55795	hgsc.bcm.edu;ucsc.edu	37	13	113854775	113854775	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr13:113854775A>C	ENST00000337344.4	-	2	168	c.92T>G	c.(91-93)tTt>tGt	p.F31C	PCID2_ENST00000375459.1_Missense_Mutation_p.F29C|PCID2_ENST00000375457.2_Missense_Mutation_p.F29C|PCID2_ENST00000375479.2_Missense_Mutation_p.F31C|PCID2_ENST00000375477.1_Missense_Mutation_p.F31C|PCID2_ENST00000246505.5_Missense_Mutation_p.F31C	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	31					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			AGGATGTTTAAAAGACACCAA	0.423																																																	0													121.0	121.0	121.0					13																	113854775		2203	4300	6503	SO:0001583	missense	55795			AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.92T>G	13.37:g.113854775A>C	ENSP00000337405:p.Phe31Cys	Somatic		WXS	SOLID	Phase_I	A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	ENST00000337344.4	37	CCDS9532.2	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151654	0.57151	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.45	5.45	0.79879	.	0.049425	0.85682	D	0.000000	T	0.68348	0.2991	M	0.70275	2.135	0.80722	D	1	B;B	0.24651	0.108;0.011	B;B	0.29176	0.099;0.014	T	0.67764	-0.5586	9	0.51188	T	0.08	-11.693	15.2035	0.73159	1.0:0.0:0.0:0.0	.	31;31	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	C	31;31;31;31;29;29;31;29;31	.	ENSP00000246505:F31C	F	-	2	0	PCID2	112902776	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.308000	0.89966	2.064000	0.61679	0.533000	0.62120	TTT		0.423	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1		NM_018386	
PCNT	5116	hgsc.bcm.edu	37	21	47832830	47832830	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr21:47832830T>A	ENST00000359568.5	+	29	6181	c.6074T>A	c.(6073-6075)gTc>gAc	p.V2025D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2025					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGCTCACCGTCTGCCAGAGG	0.592																																																	0													91.0	88.0	89.0					21																	47832830		2203	4300	6503	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6074T>A	21.37:g.47832830T>A	ENSP00000352572:p.Val2025Asp	Somatic		WXS	SOLID	Phase_I	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.801920	0.50315	.	.	ENSG00000160299	ENST00000359568	T	0.01918	4.56	5.37	1.66	0.24008	.	1.750500	0.04184	N	0.326988	T	0.03651	0.0104	L	0.29908	0.895	0.09310	N	1	P;P	0.45176	0.852;0.769	P;B	0.46975	0.533;0.332	T	0.43766	-0.9371	10	0.54805	T	0.06	.	6.6069	0.22729	0.0:0.3309:0.0:0.6691	.	1907;2025	O95613-2;O95613	.;PCNT_HUMAN	D	2025	ENSP00000352572:V2025D	ENSP00000352572:V2025D	V	+	2	0	PCNT	46657258	0.012000	0.17670	0.005000	0.12908	0.030000	0.12068	0.064000	0.14437	0.059000	0.16252	0.421000	0.28195	GTC		0.592	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031	
PDE4A	5141	hgsc.bcm.edu;ucsc.edu	37	19	10565503	10565503	+	Splice_Site	SNP	A	A	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr19:10565503A>C	ENST00000352831.6	+	7	893		c.e7-1		PDE4A_ENST00000293683.5_Splice_Site|PDE4A_ENST00000440014.2_Splice_Site|PDE4A_ENST00000592685.1_Splice_Site|PDE4A_ENST00000344979.3_Splice_Site|PDE4A_ENST00000380702.2_Splice_Site	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CCTTTACCTTAGTTCAAAAGG	0.507																																																	0													133.0	116.0	122.0					19																	10565503		2203	4300	6503	SO:0001630	splice_region_variant	5141				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.784-1A>C	19.37:g.10565503A>C		Somatic		WXS	SOLID	Phase_I	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Splice_Site	SNP	ENST00000352831.6	37	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.996053	0.74703	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3315	0.49479	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE4A	10426503	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	8.173000	0.89680	1.854000	0.53819	0.454000	0.30748	.		0.507	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			Intron
PDS5B	23047	hgsc.bcm.edu	37	13	33306263	33306263	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr13:33306263A>T	ENST00000315596.10	+	20	2335	c.2149A>T	c.(2149-2151)Aaa>Taa	p.K717*		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	717					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTTACATCACAAATCTAAAAA	0.338																																																	0													55.0	51.0	52.0					13																	33306263		1786	4058	5844	SO:0001587	stop_gained	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2149A>T	13.37:g.33306263A>T	ENSP00000313851:p.Lys717*	Somatic		WXS	SOLID	Phase_I	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Nonsense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	39	7.828900	0.98513	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-26.5825	14.7926	0.69854	1.0:0.0:0.0:0.0	.	.	.	.	X	717	.	ENSP00000313851:K717X	K	+	1	0	PDS5B	32204263	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.123000	0.94387	1.956000	0.56807	0.397000	0.26171	AAA		0.338	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3		NM_015032	
PDZD2	23037	hgsc.bcm.edu;ucsc.edu	37	5	32089022	32089022	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr5:32089022C>A	ENST00000438447.1	+	20	5856	c.5468C>A	c.(5467-5469)cCt>cAt	p.P1823H	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1823H			O15018	PDZD2_HUMAN	PDZ domain containing 2	1823					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAGGAACAACCTCTAATGCCT	0.463																																																	0													113.0	116.0	115.0					5																	32089022		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5468C>A	5.37:g.32089022C>A	ENSP00000402033:p.Pro1823His	Somatic		WXS	SOLID	Phase_I	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911166	0.33721	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07216	3.21;3.21	5.63	3.7	0.42460	.	1.338040	0.04746	N	0.423776	T	0.10809	0.0264	N	0.24115	0.695	0.09310	N	1	B	0.33448	0.412	B	0.37833	0.259	T	0.47262	-0.9131	10	0.72032	D	0.01	.	13.3758	0.60739	0.0:0.679:0.321:0.0	.	1823	O15018	PDZD2_HUMAN	H	1823;1624;1823	ENSP00000402033:P1823H;ENSP00000282493:P1823H	ENSP00000282493:P1823H	P	+	2	0	PDZD2	32124779	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.817000	0.27281	1.333000	0.45449	0.655000	0.94253	CCT		0.463	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			
PIK3CA	5290	hgsc.bcm.edu;ucsc.edu	37	3	178948101	178948101	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr3:178948101A>G	ENST00000263967.3	+	20	3030	c.2873A>G	c.(2872-2874)cAg>cGg	p.Q958R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	958	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTTTTGACACAGGATTTCTTA	0.328		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0													81.0	80.0	80.0					3																	178948101		1815	4075	5890	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2873A>G	3.37:g.178948101A>G	ENSP00000263967:p.Gln958Arg	Somatic		WXS	SOLID	Phase_I	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124871	0.56613	.	.	ENSG00000121879	ENST00000263967	T	0.78924	-1.22	4.99	4.99	0.66335	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.61223	0.2330	N	0.11064	0.09	0.80722	D	1	B	0.28208	0.203	B	0.25291	0.059	T	0.60924	-0.7166	10	0.36615	T	0.2	-14.629	14.9656	0.71188	1.0:0.0:0.0:0.0	.	958	P42336	PK3CA_HUMAN	R	958	ENSP00000263967:Q958R	ENSP00000263967:Q958R	Q	+	2	0	PIK3CA	180430795	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.807000	0.91935	1.990000	0.58119	0.477000	0.44152	CAG		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			
PTPRF	5792	hgsc.bcm.edu;ucsc.edu	37	1	44057602	44057602	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr1:44057602G>C	ENST00000359947.4	+	10	1991	c.1651G>C	c.(1651-1653)Gag>Cag	p.E551Q	PTPRF_ENST00000422171.2_Missense_Mutation_p.E10Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.E551Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.E551Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.E551Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	551	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGGGCGGCAGAGGACGAAGA	0.602																																																	0													50.0	49.0	49.0					1																	44057602		2203	4300	6503	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1651G>C	1.37:g.44057602G>C	ENSP00000353030:p.Glu551Gln	Somatic		WXS	SOLID	Phase_I	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	7.502|7.502|7.502	0.652965|0.652965|0.652965	0.14580|0.14580|0.14580	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171|ENST00000429895|ENST00000412568;ENST00000414879	T;T;T;T;T|.|.	0.57273|.|.	0.41;0.41;0.41;0.41;0.41|.|.	4.87|4.87|4.87	4.87|4.87|4.87	0.63330|0.63330|0.63330	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.|.	0.000000|.|.	0.34750|.|.	N|.|.	0.003714|.|.	T|T|T	0.20170|0.20170|0.20170	0.0485|0.0485|0.0485	N|N|N	0.04508|0.04508|0.04508	-0.205|-0.205|-0.205	0.09310|0.09310|0.09310	N|N|N	0.999999|0.999999|0.999999	B;B;B;D;P|.|.	0.62365|.|.	0.202;0.051;0.432;0.991;0.758|.|.	B;B;B;P;P|.|.	0.57283|.|.	0.071;0.049;0.123;0.817;0.471|.|.	T|T|T	0.13548|0.13548|0.13548	-1.0505|-1.0505|-1.0505	10|5|5	0.22706|.|.	T|.|.	0.39|.|.	.|.|.	12.3148|12.3148|12.3148	0.54948|0.54948|0.54948	0.0794:0.0:0.9206:0.0|0.0794:0.0:0.9206:0.0|0.0794:0.0:0.9206:0.0	.|.|.	207;10;310;551;551|.|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.|.	.;.;.;.;PTPRF_HUMAN|.|.	Q|H|T	551;551;551;551;10|207|218;75	ENSP00000353030:E551Q;ENSP00000398822:E551Q;ENSP00000361491:E551Q;ENSP00000361490:E551Q;ENSP00000387885:E10Q|.|.	ENSP00000353030:E551Q|.|.	E|Q|R	+|+|+	1|3|2	0|2|0	PTPRF|PTPRF|PTPRF	43830189|43830189|43830189	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.972000|0.972000|0.972000	0.41901|0.41901|0.41901	0.332000|0.332000|0.332000	0.28634|0.28634|0.28634	3.956000|3.956000|3.956000	0.56722|0.56722|0.56722	2.617000|2.617000|2.617000	0.88574|0.88574|0.88574	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|CAG|AGA		0.602	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			
SCP2	6342	hgsc.bcm.edu;ucsc.edu	37	1	53480709	53480709	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr1:53480709C>A	ENST00000528311.1	+	11	1282	c.986C>A	c.(985-987)gCc>gAc	p.A329D	SCP2_ENST00000488965.1_Missense_Mutation_p.A6D|SCP2_ENST00000430330.2_Missense_Mutation_p.A6D|SCP2_ENST00000371509.4_Missense_Mutation_p.A366D|SCP2_ENST00000371514.3_Missense_Mutation_p.A410D|SCP2_ENST00000435345.2_Missense_Mutation_p.A6D|SCP2_ENST00000408941.3_Missense_Mutation_p.A6D|SCP2_ENST00000407246.2_Missense_Mutation_p.A386D	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						TTTCCGGAAGCCGCCAGGTGA	0.418																																																	0													142.0	140.0	141.0					1																	53480709		2203	4300	6503	SO:0001583	missense	6342			M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.986C>A	1.37:g.53480709C>A	ENSP00000434132:p.Ala329Asp	Somatic		WXS	SOLID	Phase_I	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	CCDS53319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.20|12.20	1.867478|1.867478	0.32977|0.32977	.|.	.|.	ENSG00000116171|ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000430330;ENST00000408941;ENST00000435345;ENST00000488965|ENST00000478274;ENST00000484100	T;T;T;T;T;T|.	0.68765|.	-0.35;-0.35;-0.35;-0.35;1.85;1.93|.	5.44|5.44	4.51|4.51	0.55191|0.55191	.|.	0.647007|.	0.15342|.	N|.	0.267480|.	T|T	0.39784|0.39784	0.1091|0.1091	L|L	0.34521|0.34521	1.04|1.04	0.24250|0.24250	N|N	0.995326|0.995326	B;B;B;P;B;B|.	0.42409|.	0.003;0.01;0.004;0.779;0.0;0.004|.	B;B;B;B;B;B|.	0.41036|.	0.002;0.013;0.005;0.346;0.0;0.003|.	T|T	0.21348|0.21348	-1.0248|-1.0248	10|5	0.34782|.	T|.	0.22|.	-10.3797|-10.3797	12.9029|12.9029	0.58135|0.58135	0.0:0.9197:0.0:0.0803|0.0:0.9197:0.0:0.0803	.|.	6;386;366;6;6;410|.	B4E0J3;C9JC79;A6NM69;F2Z3J1;E1B6W5;P22307|.	.;.;.;.;.;NLTP_HUMAN|.	D|R	410;329;366;386;6;6;6;6|24	ENSP00000360569:A410D;ENSP00000434132:A329D;ENSP00000360564:A366D;ENSP00000384569:A386D;ENSP00000406636:A6D;ENSP00000396413:A6D|.	ENSP00000360564:A366D|.	A|S	+|+	2|3	0|2	SCP2|SCP2	53253297|53253297	0.775000|0.775000	0.28604|0.28604	0.987000|0.987000	0.45799|0.45799	0.536000|0.536000	0.34869|0.34869	1.367000|1.367000	0.34204|0.34204	2.708000|2.708000	0.92522|0.92522	0.650000|0.650000	0.86243|0.86243	GCC|AGC		0.418	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1		NM_002979	
SEPT2	4735	hgsc.bcm.edu	37	2	242276812	242276812	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr2:242276812C>G	ENST00000391973.2	+	6	885	c.357C>G	c.(355-357)atC>atG	p.I119M	SEPT2_ENST00000360051.3_Missense_Mutation_p.I119M|SEPT2_ENST00000391971.2_Missense_Mutation_p.I119M|SEPT2_ENST00000402092.2_Missense_Mutation_p.I119M|SEPT2_ENST00000401990.1_Missense_Mutation_p.I129M|SEPT2_ENST00000407971.1_Missense_Mutation_p.I79M	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	119	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		AGACAATTATCTCCTATATTG	0.413																																																	0													128.0	123.0	124.0					2																	242276812		2203	4300	6503	SO:0001583	missense	4735			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.357C>G	2.37:g.242276812C>G	ENSP00000375834:p.Ile119Met	Somatic		WXS	SOLID	Phase_I	B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	37	CCDS2548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.08|17.08	3.298853|3.298853	0.60195|0.60195	.|.	.|.	ENSG00000168385|ENSG00000168385	ENST00000391973;ENST00000428282;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000436795;ENST00000411484;ENST00000402092;ENST00000443492;ENST00000437066;ENST00000391972;ENST00000449239|ENST00000457874	T;T;T;T;T;T;T;T;T;T;T;T|.	0.54479|.	1.36;1.36;1.36;1.36;1.36;0.57;1.36;1.36;1.36;0.57;1.36;1.36|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63768|0.63768	0.2539|0.2539	L|L	0.53729|0.53729	1.69|1.69	0.80722|0.80722	D|D	1|1	D;D;P|.	0.60575|.	0.984;0.988;0.921|.	P;P;P|.	0.62491|.	0.886;0.903;0.899|.	T|T	0.61422|0.61422	-0.7066|-0.7066	10|5	0.37606|.	T|.	0.19|.	.|.	13.2576|13.2576	0.60087|0.60087	0.0:0.9245:0.0:0.0755|0.0:0.9245:0.0:0.0755	.|.	154;79;119|.	Q15019-2;B5MCX3;Q15019|.	.;.;SEPT2_HUMAN|.	M|C	119;79;119;119;129;79;119;130;119;79;119;154;119|91	ENSP00000375834:I119M;ENSP00000397195:I79M;ENSP00000353157:I119M;ENSP00000375832:I119M;ENSP00000385109:I129M;ENSP00000384525:I79M;ENSP00000406181:I119M;ENSP00000394666:I130M;ENSP00000385172:I119M;ENSP00000399195:I79M;ENSP00000412434:I119M;ENSP00000391717:I119M|.	ENSP00000353157:I119M|.	I|S	+|+	3|2	3|0	SEPT2|SEPT2	241925485|241925485	0.997000|0.997000	0.39634|0.39634	0.999000|0.999000	0.59377|0.59377	0.717000|0.717000	0.41224|0.41224	0.999000|0.999000	0.29757|0.29757	2.479000|2.479000	0.83701|0.83701	0.655000|0.655000	0.94253|0.94253	ATC|TCT		0.413	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3		NM_006155	
SERPINB13	5275	hgsc.bcm.edu	37	18	61264230	61264230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr18:61264230G>A	ENST00000344731.5	+	8	911	c.809G>A	c.(808-810)tGg>tAg	p.W270*	SERPINB13_ENST00000269489.5_Nonsense_Mutation_p.W218*	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	270					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTGGTAGAGTGGACTAGTCCA	0.408																																																	0													80.0	85.0	83.0					18																	61264230		2203	4300	6503	SO:0001587	stop_gained	5275			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.809G>A	18.37:g.61264230G>A	ENSP00000341584:p.Trp270*	Somatic		WXS	SOLID	Phase_I	A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Nonsense_Mutation	SNP	ENST00000344731.5	37	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444662	0.96187	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	.	.	.	5.43	4.53	0.55603	.	0.000000	0.46442	D	0.000281	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7012	0.69157	0.0:0.0:0.8549:0.1451	.	.	.	.	X	218;188;270	.	ENSP00000269489:W218X	W	+	2	0	SERPINB13	59415210	1.000000	0.71417	0.994000	0.49952	0.733000	0.41908	5.304000	0.65744	2.563000	0.86464	0.650000	0.86243	TGG		0.408	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1		NM_012397	
SLC17A8	246213	hgsc.bcm.edu	37	12	100796248	100796248	+	Silent	SNP	T	T	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr12:100796248T>C	ENST00000323346.5	+	7	1207	c.894T>C	c.(892-894)gtT>gtC	p.V298V	snoU13_ENST00000459038.1_RNA|SLC17A8_ENST00000392989.3_Silent_p.V298V	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	298					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CCAACGTGGTTAGTCTAAGTG	0.398																																																	0													74.0	74.0	74.0					12																	100796248		2203	4300	6503	SO:0001819	synonymous_variant	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.894T>C	12.37:g.100796248T>C		Somatic		WXS	SOLID	Phase_I	B3KXZ6|B7ZKV4|Q17RQ8	Silent	SNP	ENST00000323346.5	37	CCDS9077.1																																																																																				0.398	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2		NM_139319	
SLC22A11	55867	hgsc.bcm.edu;ucsc.edu	37	11	64326672	64326672	+	Silent	SNP	C	C	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr11:64326672C>T	ENST00000301891.4	+	2	833	c.459C>T	c.(457-459)atC>atT	p.I153I	SLC22A11_ENST00000377585.3_Silent_p.I153I|SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377581.3_Silent_p.I153I	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	153					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	TGTCCGGGATCCTGGTGGGCT	0.622																																																	0													136.0	122.0	127.0					11																	64326672		2201	4297	6498	SO:0001819	synonymous_variant	55867			AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.459C>T	11.37:g.64326672C>T		Somatic		WXS	SOLID	Phase_I	A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	ENST00000301891.4	37	CCDS8074.1																																																																																				0.622	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4		NM_018484	
SLC40A1	30061	hgsc.bcm.edu;ucsc.edu	37	2	190428477	190428477	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr2:190428477A>T	ENST00000261024.2	-	7	1661	c.1235T>A	c.(1234-1236)tTc>tAc	p.F412Y		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	412					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TCCTTGAATGAACCTTGATCG	0.418																																																	0													96.0	98.0	97.0					2																	190428477		2203	4300	6503	SO:0001583	missense	30061			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.1235T>A	2.37:g.190428477A>T	ENSP00000261024:p.Phe412Tyr	Somatic		WXS	SOLID	Phase_I	Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.513347	0.64522	.	.	ENSG00000138449	ENST00000261024;ENST00000544056	D	0.92249	-3.0	6.02	3.68	0.42216	Major facilitator superfamily domain, general substrate transporter (1);	0.427798	0.29668	N	0.011515	D	0.83385	0.5243	N	0.22421	0.69	0.31163	N	0.704114	P	0.41748	0.761	B	0.41764	0.366	T	0.79711	-0.1689	10	0.02654	T	1	-9.2274	9.8735	0.41189	0.8634:0.0:0.1366:0.0	.	412	Q9NP59	S40A1_HUMAN	Y	412;147	ENSP00000261024:F412Y	ENSP00000261024:F412Y	F	-	2	0	SLC40A1	190136722	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	4.191000	0.58372	1.094000	0.41399	0.528000	0.53228	TTC		0.418	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			
SPATS2	65244	hgsc.bcm.edu;ucsc.edu	37	12	49884479	49884479	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr12:49884479G>A	ENST00000553127.1	+	7	742	c.229G>A	c.(229-231)Gta>Ata	p.V77I	SPATS2_ENST00000552918.1_Missense_Mutation_p.V77I|SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000321898.6_Missense_Mutation_p.V77I			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	77						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						TGCCAGTGAAGTACTCAAAGA	0.358																																																	0													126.0	117.0	120.0					12																	49884479		2203	4300	6503	SO:0001583	missense	65244			AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.229G>A	12.37:g.49884479G>A	ENSP00000448228:p.Val77Ile	Somatic		WXS	SOLID	Phase_I	A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155136	0.78114	.	.	ENSG00000123352	ENST00000550997;ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	5.24	5.24	0.73138	UBA-like (1);	0.067966	0.64402	D	0.000015	T	0.60779	0.2295	N	0.17379	0.485	0.80722	D	1	D	0.64830	0.994	D	0.72625	0.978	T	0.62914	-0.6753	9	0.44086	T	0.13	-11.1087	14.3399	0.66619	0.0:0.0:1.0:0.0	.	77	Q86XZ4	SPAS2_HUMAN	I	77	.	ENSP00000326841:V77I	V	+	1	0	SPATS2	48170746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.656000	0.67988	2.436000	0.82500	0.579000	0.79373	GTA		0.358	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1		NM_023071	
SMARCD1	6602	hgsc.bcm.edu;ucsc.edu	37	12	50481179	50481179	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr12:50481179A>T	ENST00000394963.4	+	5	963	c.565A>T	c.(565-567)Act>Tct	p.T189S	SMARCD1_ENST00000381513.4_Missense_Mutation_p.T189S|SMARCD1_ENST00000548573.1_5'Flank	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1											NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CATTTCTAACACTTTCAATCC	0.522																																																	0													174.0	179.0	177.0					12																	50481179		2203	4300	6503	SO:0001583	missense	6602			U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.565A>T	12.37:g.50481179A>T	ENSP00000378414:p.Thr189Ser	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000394963.4	37	CCDS8797.2	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252964	0.80135	.	.	ENSG00000066117	ENST00000394963;ENST00000381513	T;T	0.48836	0.8;0.8	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	M	0.66297	2.02	0.80722	D	1	P;P;P	0.46952	0.569;0.854;0.887	P;P;P	0.51266	0.493;0.664;0.463	T	0.61501	-0.7050	10	0.52906	T	0.07	-12.8649	15.5158	0.75822	1.0:0.0:0.0:0.0	.	189;189;189	B4DF50;Q96GM5-2;Q96GM5	.;.;SMRD1_HUMAN	S	189	ENSP00000378414:T189S;ENSP00000370924:T189S	ENSP00000370924:T189S	T	+	1	0	SMARCD1	48767446	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.047000	0.93823	2.317000	0.78254	0.459000	0.35465	ACT		0.522	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2		NM_003076	
SPEF2	79925	hgsc.bcm.edu;ucsc.edu	37	5	35800103	35800103	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr5:35800103G>C	ENST00000356031.3	+	34	5018	c.4864G>C	c.(4864-4866)Gat>Cat	p.D1622H	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Missense_Mutation_p.D419H|SPEF2_ENST00000440995.2_Missense_Mutation_p.D1617H	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1622					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTATGAGAAGGATCCACCCCA	0.458																																																	0													253.0	231.0	238.0					5																	35800103		1982	4163	6145	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4864G>C	5.37:g.35800103G>C	ENSP00000348314:p.Asp1622His	Somatic		WXS	SOLID	Phase_I	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701099	0.30142	.	.	ENSG00000152582	ENST00000356031;ENST00000440995;ENST00000303129	T;T;T	0.63255	-0.03;-0.03;-0.03	5.57	1.85	0.25348	.	0.687154	0.15426	N	0.262969	T	0.69477	0.3115	L	0.54323	1.7	0.09310	N	1	D;D;P	0.71674	0.998;0.963;0.938	D;P;P	0.64877	0.93;0.73;0.541	T	0.58103	-0.7695	10	0.59425	D	0.04	.	8.6349	0.33941	0.3656:0.0:0.6344:0.0	.	419;1617;1622	Q9C093-4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	H	1622;1617;419	ENSP00000348314:D1622H;ENSP00000412125:D1617H;ENSP00000303843:D419H	ENSP00000303843:D419H	D	+	1	0	SPEF2	35835860	0.013000	0.17824	0.381000	0.26106	0.275000	0.26752	1.450000	0.35134	0.325000	0.23359	-0.291000	0.09656	GAT		0.458	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1		NM_144722	
SRRM4	84530	hgsc.bcm.edu;ucsc.edu	37	12	119591354	119591354	+	Missense_Mutation	SNP	C	C	T	rs376043694		TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr12:119591354C>T	ENST00000267260.4	+	11	1679	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	431	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GTCCTACTCCCGCTCTCCCAG	0.627																																																	0								C	CYS/ARG	0,3736		0,0,1868	23.0	28.0	27.0		1291	5.7	1.0	12		27	1,8149		0,1,4074	no	missense	SRRM4	NM_194286.3	180	0,1,5942	TT,TC,CC		0.0123,0.0,0.0084	probably-damaging	431/612	119591354	1,11885	1868	4075	5943	SO:0001583	missense	84530			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1291C>T	12.37:g.119591354C>T	ENSP00000267260:p.Arg431Cys	Somatic		WXS	SOLID	Phase_I	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742769	0.89573	0.0	1.23E-4	ENSG00000139767	ENST00000267260	T	0.34859	1.34	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.55862	0.1947	L	0.59436	1.845	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.51172	-0.8739	9	.	.	.	-24.4489	14.6842	0.69037	0.1451:0.8548:0.0:0.0	.	431	A7MD48	SRRM4_HUMAN	C	431	ENSP00000267260:R431C	.	R	+	1	0	SRRM4	118075737	0.985000	0.35326	0.996000	0.52242	0.961000	0.63080	2.671000	0.46842	2.700000	0.92200	0.561000	0.74099	CGC		0.627	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2		NM_194286	
SSTR4	6754	hgsc.bcm.edu	37	20	23016318	23016318	+	Silent	SNP	C	C	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr20:23016318C>A	ENST00000255008.3	+	1	262	c.198C>A	c.(196-198)gcC>gcA	p.A66A	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	66					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGGGCAACGCCCTGGTCATCT	0.657																																					Esophageal Squamous(15;850 1104 16640)												0													102.0	113.0	109.0					20																	23016318		2203	4300	6503	SO:0001819	synonymous_variant	6754				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.198C>A	20.37:g.23016318C>A		Somatic		WXS	SOLID	Phase_I	Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	ENST00000255008.3	37	CCDS42856.1																																																																																				0.657	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			
STK11IP	114790	hgsc.bcm.edu	37	2	220466384	220466384	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr2:220466384G>T	ENST00000456909.1	+	4	379	c.289G>T	c.(289-291)Ggc>Tgc	p.G97C	STK11IP_ENST00000295641.10_Missense_Mutation_p.G108C|STK11IP_ENST00000459692.1_3'UTR			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	108					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTGGTCCTGGCCCCACAGG	0.517																																																	0													17.0	17.0	17.0					2																	220466384		1877	4118	5995	SO:0001583	missense	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.289G>T	2.37:g.220466384G>T	ENSP00000389383:p.Gly97Cys	Somatic		WXS	SOLID	Phase_I	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37		.	.	.	.	.	.	.	.	.	.	G	12.20	1.867945	0.32977	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.05258	3.48;3.47	4.84	4.84	0.62591	.	0.388875	0.27219	N	0.020364	T	0.18130	0.0435	L	0.47716	1.5	0.21627	N	0.999617	D;D;D;P	0.89917	1.0;0.966;1.0;0.783	D;P;D;P	0.76575	0.988;0.535;0.988;0.494	T	0.02352	-1.1172	10	0.39692	T	0.17	-18.6299	14.9731	0.71249	0.0:0.0:1.0:0.0	.	108;108;108;108	B4DUE4;B4DII2;Q8N1F8-2;Q8N1F8	.;.;.;S11IP_HUMAN	C	97;108;108	ENSP00000389383:G97C;ENSP00000295641:G108C	ENSP00000295641:G108C	G	+	1	0	STK11IP	220174628	0.002000	0.14202	0.500000	0.27589	0.160000	0.22226	0.973000	0.29422	2.516000	0.84829	0.655000	0.94253	GGC		0.517	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1		NM_052902	
TBC1D12	23232	hgsc.bcm.edu;ucsc.edu	37	10	96291048	96291048	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr10:96291048T>A	ENST00000225235.4	+	12	2200	c.2090T>A	c.(2089-2091)tTt>tAt	p.F697Y	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	697							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GAATTTTTATTTAGGACTGGA	0.368																																																	0													148.0	138.0	141.0					10																	96291048		1819	4087	5906	SO:0001583	missense	23232			AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.2090T>A	10.37:g.96291048T>A	ENSP00000225235:p.Phe697Tyr	Somatic		WXS	SOLID	Phase_I	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	ENST00000225235.4	37	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.721054	0.89205	.	.	ENSG00000108239	ENST00000225235	T	0.12465	2.68	5.31	5.31	0.75309	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.36220	0.0959	M	0.77406	2.37	0.80722	D	1	P	0.50710	0.938	D	0.64042	0.921	T	0.09015	-1.0694	10	0.56958	D	0.05	-12.8317	13.2709	0.60159	0.0:0.0:0.0:1.0	.	697	O60347	TBC12_HUMAN	Y	697	ENSP00000225235:F697Y	ENSP00000225235:F697Y	F	+	2	0	TBC1D12	96281038	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	2.234000	0.73211	0.528000	0.53228	TTT		0.368	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			
TIAM2	26230	hgsc.bcm.edu	37	6	155577714	155577714	+	Missense_Mutation	SNP	G	G	C	rs386707403|rs114239511	byFrequency	TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr6:155577714G>C	ENST00000461783.3	+	29	5838	c.4565G>C	c.(4564-4566)aGc>aCc	p.S1522T	TIAM2_ENST00000367174.2_Missense_Mutation_p.S898T|TIAM2_ENST00000318981.5_Missense_Mutation_p.S1522T|TIAM2_ENST00000275246.7_Missense_Mutation_p.S447T|TIAM2_ENST00000528391.2_Missense_Mutation_p.S866T|TIAM2_ENST00000456877.2_Missense_Mutation_p.S834T|TIAM2_ENST00000360366.4_Missense_Mutation_p.S1546T|TIAM2_ENST00000529824.2_Missense_Mutation_p.S1551T|TIAM2_ENST00000456144.1_Missense_Mutation_p.S1551T|RP11-477D19.2_ENST00000435295.1_RNA			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1522					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GACGAGGGCAGCTTGAGCAGC	0.602													G|||	144	0.028754	0.0469	0.0144	5008	,	,		17562	0.0		0.0099	False		,,,				2504	0.0634																0								G	THR/SER,THR/SER,	179,4227		4,171,2028	33.0	36.0	35.0		1340,4565,	5.5	1.0	6	dbSNP_132	35	35,8563		0,35,4264	yes	missense,missense,utr-3	TIAM2,TFB1M	NM_001010927.2,NM_012454.3,NM_016020.3	58,58,	4,206,6292	CC,CG,GG		0.4071,4.0626,1.6456	benign,benign,	447/627,1522/1702,	155577714	214,12790	2203	4299	6502	SO:0001583	missense	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4565G>C	6.37:g.155577714G>C	ENSP00000437188:p.Ser1522Thr	Somatic		WXS	SOLID	Phase_I	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	27	0.012362637362637362	17	0.034552845528455285	5	0.013812154696132596	0	0.0	5	0.006596306068601583	G	22.5	4.302218	0.81136	0.040626	0.004071	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T	0.09350	3.47;3.4;3.47;3.32;3.47;3.4;3.29;3.3;2.99	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.22551	0.0544	M	0.63843	1.955	0.47862	D	0.999535	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.83275	0.942;0.996;0.996;0.99	T	0.00379	-1.1777	10	0.37606	T	0.19	.	17.5916	0.87998	0.0:0.0:1.0:0.0	.	866;1551;1546;1522	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	T	1522;1768;1551;1522;898;1546;1551;834;866;447	ENSP00000437188:S1522T;ENSP00000407746:S1551T;ENSP00000327315:S1522T;ENSP00000356142:S898T;ENSP00000353528:S1546T;ENSP00000433348:S1551T;ENSP00000407183:S834T;ENSP00000435335:S866T;ENSP00000275246:S447T	ENSP00000275246:S447T	S	+	2	0	TIAM2	155619406	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.695000	0.91298	2.605000	0.88082	0.585000	0.79938	AGC		0.602	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2		NM_012454	
TMPRSS5	80975	hgsc.bcm.edu;ucsc.edu	37	11	113568092	113568103	+	In_Frame_Del	DEL	CTCACTTGCGCT	CTCACTTGCGCT	-	rs369568528|rs7939917|rs149253144	byFrequency	TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	CTCACTTGCGCT	CTCACTTGCGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr11:113568092_113568103delCTCACTTGCGCT	ENST00000299882.5	-	5	514_525	c.366_377delAGCGCAAGTGAG	c.(364-378)gaagcgcaagtgagg>gag	p.AQVR123del	TMPRSS5_ENST00000544634.1_In_Frame_Del_p.AQVR123del|TMPRSS5_ENST00000538955.1_In_Frame_Del_p.AQVR79del|TMPRSS5_ENST00000545579.1_In_Frame_Del_p.AQVR114del|TMPRSS5_ENST00000536856.1_5'UTR|TMPRSS5_ENST00000544476.1_In_Frame_Del_p.AQVR79del|TMPRSS5_ENST00000540540.1_5'UTR	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	123	SRCR.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		TGGCTGATCCCTCACTTGCGCTTCCAGCAAGA	0.557																																																	0																																										SO:0001651	inframe_deletion	80975			AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"""Serine peptidases / Transmembrane"""	14908	protein-coding gene	gene with protein product	"""spinesin"""	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.366_377delAGCGCAAGTGAG	11.37:g.113568092_113568103delCTCACTTGCGCT	ENSP00000299882:p.Ala123_Arg126del	Somatic		WXS	SOLID	Phase_I		In_Frame_Del	DEL	ENST00000299882.5	37	CCDS44735.1																																																																																				0.557	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1		NM_030770	
TOP1	7150	hgsc.bcm.edu;ucsc.edu	37	20	39728844	39728844	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr20:39728844G>T	ENST00000361337.2	+	12	1374	c.1124G>T	c.(1123-1125)aGa>aTa	p.R375I	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	375					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)			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)	ATGCTGAAGAGACGAATCATG	0.493			T	NUP98	AML*																																			Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	0													59.0	60.0	59.0					20																	39728844		2203	4300	6503	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.1124G>T	20.37:g.39728844G>T	ENSP00000354522:p.Arg375Ile	Somatic		WXS	SOLID	Phase_I	A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276982	0.80580	.	.	ENSG00000198900	ENST00000361337	T	0.48522	0.81	5.27	5.27	0.74061	DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.043720	0.85682	D	0.000000	T	0.68384	0.2995	M	0.91406	3.205	0.80722	D	1	D	0.55800	0.973	P	0.55087	0.768	T	0.75975	-0.3128	10	0.87932	D	0	-15.7862	12.5957	0.56468	0.0764:0.0:0.9236:0.0	.	375	P11387	TOP1_HUMAN	I	375	ENSP00000354522:R375I	ENSP00000354522:R375I	R	+	2	0	TOP1	39162258	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.834000	0.75339	2.641000	0.89580	0.655000	0.94253	AGA		0.493	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			
TRIP13	9319	hgsc.bcm.edu;ucsc.edu	37	5	916029	916029	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr5:916029G>A	ENST00000166345.3	+	12	1500	c.1144G>A	c.(1144-1146)Ggc>Agc	p.G382S	TRIP13_ENST00000510412.1_3'UTR	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	382					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GAAGAGCGAGGGCCTCAGCGG	0.547																																																	0													155.0	170.0	165.0					5																	916029		2203	4300	6503	SO:0001583	missense	9319			L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.1144G>A	5.37:g.916029G>A	ENSP00000166345:p.Gly382Ser	Somatic		WXS	SOLID	Phase_I	C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.055819	0.76074	.	.	ENSG00000071539	ENST00000166345	D	0.96427	-4.01	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.98432	0.9478	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.99414	1.0931	10	0.72032	D	0.01	-17.722	17.703	0.88301	0.0:0.0:1.0:0.0	.	382	Q15645	PCH2_HUMAN	S	382	ENSP00000166345:G382S	ENSP00000166345:G382S	G	+	1	0	TRIP13	969029	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	7.925000	0.87563	2.533000	0.85409	0.561000	0.74099	GGC		0.547	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2		NM_004237	
UBE2V1	7335	hgsc.bcm.edu	37	20	48732051	48732051	+	5'Flank	SNP	C	C	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr20:48732051C>G	ENST00000371674.3	-	0	0				UBE2V1_ENST00000371657.5_5'Flank|UBE2V1_ENST00000396059.3_5'Flank|UBE2V1_ENST00000340309.3_Missense_Mutation_p.R21T|UBE2V1_ENST00000420027.2_Missense_Mutation_p.D4H|TMEM189_ENST00000557021.1_Intron|UBE2V1_ENST00000371677.3_Missense_Mutation_p.R21T|TMEM189-UBE2V1_ENST00000341698.2_Intron|UBE2V1_ENST00000415862.2_Missense_Mutation_p.D4H	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1						cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			aggttcaagtcttccttcatc	0.458																																																	0													181.0	145.0	157.0					20																	48732051		2203	4300	6503	SO:0001631	upstream_gene_variant	7335			U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"""Ubiquitin-conjugating enzymes E2"""	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626		20.37:g.48732051C>G	Exception_encountered	Somatic		WXS	SOLID	Phase_I	E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Missense_Mutation	SNP	ENST00000371674.3	37	CCDS33483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.580|3.580	-0.085890|-0.085890	0.07097|0.07097	.|.	.|.	ENSG00000244687|ENSG00000244687	ENST00000415862;ENST00000420027|ENST00000340309;ENST00000371677	T;T|T;T	0.54479|0.61980	0.57;0.57|0.06;0.06	3.6|3.6	-1.31|-1.31	0.09230|0.09230	.|.	.|.	.|.	.|.	.|.	T|T	0.41558|0.41558	0.1164|0.1164	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	D|B	0.64830|0.02656	0.994|0.0	D|B	0.79108|0.01281	0.992|0.0	T|T	0.20240|0.20240	-1.0281|-1.0281	8|8	0.87932|0.23302	D|T	0|0.38	.|.	7.3081|7.3081	0.26459|0.26459	0.0:0.3915:0.5021:0.1064|0.0:0.3915:0.5021:0.1064	.|.	4|21	Q13404-6|Q13404-7	.|.	H|T	4|21	ENSP00000407770:D4H;ENSP00000395264:D4H|ENSP00000340305:R21T;ENSP00000360742:R21T	ENSP00000407770:D4H|ENSP00000340305:R21T	D|R	-|-	1|2	0|0	UBE2V1|UBE2V1	48165458|48165458	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.220000|0.220000	0.24768|0.24768	-0.159000|-0.159000	0.10056|0.10056	-0.334000|-0.334000	0.08463|0.08463	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.458	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080530.1		NM_021988	
URB2	9816	hgsc.bcm.edu;ucsc.edu	37	1	229773001	229773001	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr1:229773001G>T	ENST00000258243.2	+	4	2777	c.2641G>T	c.(2641-2643)Gac>Tac	p.D881Y		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	881						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.D881Y(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGTCAAGAGTGACTTCCCTAT	0.502																																																	1	Substitution - Missense(1)	endometrium(1)											113.0	112.0	112.0					1																	229773001		2203	4300	6503	SO:0001583	missense	9816			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2641G>T	1.37:g.229773001G>T	ENSP00000258243:p.Asp881Tyr	Somatic		WXS	SOLID	Phase_I	Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894366	0.52121	.	.	ENSG00000135763	ENST00000258243	T	0.32023	1.47	5.35	5.35	0.76521	.	0.658907	0.16248	N	0.222843	T	0.32675	0.0837	L	0.27053	0.805	0.09310	N	1	D	0.56521	0.976	P	0.53185	0.72	T	0.11348	-1.0591	9	.	.	.	-9.407	12.4103	0.55464	0.1215:0.0:0.8785:0.0	.	881	Q14146	URB2_HUMAN	Y	881	ENSP00000258243:D881Y	.	D	+	1	0	URB2	227839624	0.004000	0.15560	0.088000	0.20740	0.870000	0.49936	1.350000	0.34010	2.680000	0.91292	0.585000	0.79938	GAC		0.502	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1		NM_014777	
USP26	83844	hgsc.bcm.edu;ucsc.edu	37	X	132161106	132161106	+	Silent	SNP	G	G	A	rs139383150		TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chrX:132161106G>A	ENST00000511190.1	-	6	1612	c.1143C>T	c.(1141-1143)aaC>aaT	p.N381N	USP26_ENST00000370832.1_Silent_p.N381N|USP26_ENST00000406273.1_Silent_p.N381N	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	381	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CATGAGCATCGTTCTGTGCAT	0.353																																					NSCLC(104;342 1621 36940 47097 52632)												0										2,3833		0,2,1630,571	81.0	79.0	80.0		1143	-0.3	1.0	X	dbSNP_134	80	0,6726		0,0,2427,1872	no	coding-synonymous	USP26	NM_031907.1		0,2,4057,2443	AA,AG,GG,G		0.0,0.0522,0.0189		381/914	132161106	2,10559	2203	4299	6502	SO:0001819	synonymous_variant	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1143C>T	X.37:g.132161106G>A		Somatic		WXS	SOLID	Phase_I	B9WRT6|Q5H9H4	Silent	SNP	ENST00000511190.1	37	CCDS14635.1																																																																																				0.353	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1		NM_031907	
VWF	7450	hgsc.bcm.edu;ucsc.edu	37	12	6180476	6180476	+	Silent	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr12:6180476A>G	ENST00000261405.5	-	10	1397	c.1143T>C	c.(1141-1143)aaT>aaC	p.N381N		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	381					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GACATTCTTCATTGCTGCAGA	0.527																																																	0													154.0	127.0	136.0					12																	6180476		2203	4300	6503	SO:0001819	synonymous_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1143T>C	12.37:g.6180476A>G		Somatic		WXS	SOLID	Phase_I	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																				0.527	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1		NM_000552	
VWF	7450	hgsc.bcm.edu;ucsc.edu	37	12	6180485	6180485	+	Silent	SNP	G	G	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr12:6180485G>T	ENST00000261405.5	-	10	1388	c.1134C>A	c.(1132-1134)atC>atA	p.I378I		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	378					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CATTGCTGCAGATCCACTGGC	0.522																																																	0													155.0	128.0	137.0					12																	6180485		2203	4300	6503	SO:0001819	synonymous_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1134C>A	12.37:g.6180485G>T		Somatic		WXS	SOLID	Phase_I	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																				0.522	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1		NM_000552	
ZDHHC9	51114	hgsc.bcm.edu	37	X	128948750	128948750	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chrX:128948750G>A	ENST00000357166.6	-	6	900	c.509C>T	c.(508-510)cCc>cTc	p.P170L	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.P170L	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	170					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						CCCCACCCAGGGGCAGTGATG	0.483																																																	0													114.0	94.0	101.0					X																	128948750		2203	4300	6503	SO:0001583	missense	51114			AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.509C>T	X.37:g.128948750G>A	ENSP00000349689:p.Pro170Leu	Somatic		WXS	SOLID	Phase_I	B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	ENST00000357166.6	37	CCDS35395.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248791	0.95305	.	.	ENSG00000188706	ENST00000357166;ENST00000371064;ENST00000406492	T;T;T	0.27104	1.69;1.69;1.69	5.92	5.92	0.95590	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76735	-0.2850	10	0.72032	D	0.01	-13.7867	18.8204	0.92094	0.0:0.0:1.0:0.0	.	170	Q9Y397	ZDHC9_HUMAN	L	170	ENSP00000349689:P170L;ENSP00000360103:P170L;ENSP00000383991:P170L	ENSP00000349689:P170L	P	-	2	0	ZDHHC9	128776431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.490000	0.84030	0.594000	0.82650	CCC		0.483	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1		NM_016032	
ZNF106	64397	hgsc.bcm.edu;ucsc.edu	37	15	42749284	42749284	+	Silent	SNP	A	A	G			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr15:42749284A>G	ENST00000263805.4	-	1	446	c.120T>C	c.(118-120)tcT>tcC	p.S40S	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	40					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCAACTGGCCAGAAATGTGCT	0.458																																																	0													63.0	57.0	59.0					15																	42749284		2203	4299	6502	SO:0001819	synonymous_variant	64397			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.120T>C	15.37:g.42749284A>G		Somatic		WXS	SOLID	Phase_I	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	CCDS32208.1																																																																																				0.458	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1		NM_022473	
ZMYM1	79830	hgsc.bcm.edu;ucsc.edu	37	1	35576005	35576005	+	Silent	SNP	T	T	C			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr1:35576005T>C	ENST00000373330.1	+	8	1092	c.918T>C	c.(916-918)aaT>aaC	p.N306N	ZMYM1_ENST00000359858.4_Silent_p.N306N|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	306						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCTCTATTAATTGTTTCTCTG	0.333																																																	0													178.0	171.0	173.0					1																	35576005		1891	4147	6038	SO:0001819	synonymous_variant	79830			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.918T>C	1.37:g.35576005T>C		Somatic		WXS	SOLID	Phase_I	D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	37	CCDS41302.1																																																																																				0.333	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1		NM_024772	
ZNF862	643641	hgsc.bcm.edu;ucsc.edu	37	7	149559020	149559020	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr7:149559020C>T	ENST00000223210.4	+	7	3016	c.2771C>T	c.(2770-2772)aCa>aTa	p.T924I	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	924					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGGGAGAGGACAGTCCTGACG	0.577																																																	0													101.0	106.0	104.0					7																	149559020		2045	4195	6240	SO:0001583	missense	643641			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2771C>T	7.37:g.149559020C>T	ENSP00000223210:p.Thr924Ile	Somatic		WXS	SOLID	Phase_I	A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.395865	0.01175	.	.	ENSG00000106479	ENST00000223210	T	0.01015	5.44	5.39	-3.02	0.05446	.	1.067180	0.07226	N	0.861641	T	0.00608	0.0020	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.46803	-0.9165	10	0.08179	T	0.78	-6.1668	10.8204	0.46601	0.0:0.5026:0.0:0.4974	.	924	O60290	ZN862_HUMAN	I	924	ENSP00000223210:T924I	ENSP00000223210:T924I	T	+	2	0	ZNF862	149189953	0.012000	0.17670	0.000000	0.03702	0.000000	0.00434	-0.192000	0.09587	-0.865000	0.04073	-0.768000	0.03414	ACA		0.577	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1		NM_001099220	
ZSCAN5B	342933	hgsc.bcm.edu;ucsc.edu	37	19	56701571	56701571	+	Missense_Mutation	SNP	G	G	T	rs189564920		TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr19:56701571G>T	ENST00000586855.2	-	5	1426	c.1113C>A	c.(1111-1113)agC>agA	p.S371R	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.S371R			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	371					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCCTGTGGATGCTTAGCTGGG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		19889	0.001		0.0	False		,,,				2504	0.0																0													75.0	78.0	77.0					19																	56701571		2179	4281	6460	SO:0001583	missense	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1113C>A	19.37:g.56701571G>T	ENSP00000466072:p.Ser371Arg	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000586855.2	37	CCDS46203.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.250	-1.007128	0.02112	.	.	ENSG00000197213	ENST00000358992	T	0.07216	3.21	2.61	0.227	0.15359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03477	0.0100	N	0.02412	-0.56	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43147	-0.9409	9	0.39692	T	0.17	.	10.061	0.42275	0.0:0.3945:0.6055:0.0	.	371	A6NJL1	ZSA5B_HUMAN	R	371	ENSP00000351883:S371R	ENSP00000351883:S371R	S	-	3	2	ZSCAN5B	61393383	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.620000	0.05565	0.149000	0.19098	-0.840000	0.03056	AGC		0.547	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2		NM_001080456	
SACM1L	22908	hgsc.bcm.edu;ucsc.edu	37	3	45730555	45730555	+	5'Flank	SNP	C	C	T			TCGA-CJ-4873-01A-01D-1373-10	TCGA-CJ-4873-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eed9b90-c88f-4855-830e-cbb3e01cf6d5	8f41e14f-10c0-49cf-a781-75d049bb1752	g.chr3:45730555C>T	ENST00000389061.5	+	0	0				LIMD1-AS1_ENST00000427644.1_RNA|SACM1L_ENST00000418611.1_5'Flank|SACM1L_ENST00000464524.1_3'UTR|LIMD1-AS1_ENST00000429798.1_RNA|SACM1L_ENST00000541314.1_5'Flank	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		tccattgcgccactggcccCG	0.532																																																	0													67.0	58.0	60.0					3																	45730555		692	1591	2283	SO:0001631	upstream_gene_variant	100126522			AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653		3.37:g.45730555C>T	Exception_encountered	Somatic		WXS	SOLID	Phase_I	A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	RNA	SNP	ENST00000389061.5	37	CCDS33745.1																																																																																				0.532	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2		NM_014016	
