#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
AMPD3	272	hgsc.bcm.edu	37	11	10517135	10517135	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr11:10517135G>C	ENST00000396554.3	+	9	1653	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q	AMPD3_ENST00000444303.2_Missense_Mutation_p.E270Q	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	429					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CCGGGAGCTGGAGGAGAGCAA	0.607																																																	0													63.0	55.0	58.0					11																	10517135		2201	4294	6495	SO:0001583	missense	272			M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1312G>C	11.37:g.10517135G>C	ENSP00000379802:p.Glu438Gln	Somatic		WXS	SOLID	Phase_I	A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947912	0.92593	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77	5.15	5.15	0.70609	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.91570	0.7337	M	0.84433	2.695	0.80722	D	1	D;D;D	0.89917	1.0;0.97;1.0	D;P;D	0.66351	0.943;0.615;0.943	D	0.92443	0.5963	10	0.56958	D	0.05	-23.1559	18.2391	0.89960	0.0:0.0:1.0:0.0	.	436;429;438	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	Q	270;438;429;436;429	ENSP00000396000:E270Q;ENSP00000379802:E438Q;ENSP00000379801:E429Q;ENSP00000436987:E436Q;ENSP00000431648:E429Q	ENSP00000379801:E429Q	E	+	1	0	AMPD3	10473711	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.397000	0.81536	0.491000	0.48974	GAG		0.607	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2		NM_000480	
ANKHD1	54882	hgsc.bcm.edu	37	5	139886426	139886426	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr5:139886426G>C	ENST00000360839.2	+	19	3569	c.3415G>C	c.(3415-3417)Gac>Cac	p.D1139H	ANKHD1_ENST00000297183.6_Missense_Mutation_p.D1139H|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D1139H	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1139						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGGTGGTAGACTTGCTGCT	0.383																																																	0													110.0	101.0	104.0					5																	139886426		2203	4300	6503	SO:0001583	missense	404734			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3415G>C	5.37:g.139886426G>C	ENSP00000354085:p.Asp1139His	Somatic		WXS	SOLID	Phase_I	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.894126|4.894126	0.91889|0.91889	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219|ENST00000246149	T;T;T;T;T|.	0.65549|.	-0.16;-0.16;-0.16;-0.16;-0.16|.	6.06|6.06	6.06|6.06	0.98353|0.98353	Ankyrin repeat-containing domain (4);|.	0.060679|.	0.64402|.	D|.	0.000002|.	T|.	0.60274|.	0.2256|.	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;D;D;D;D|.	0.76494|.	0.037;0.999;0.982;0.984;0.984|.	B;D;P;P;P|.	0.71184|.	0.17;0.972;0.863;0.905;0.905|.	T|.	0.50866|.	-0.8777|.	10|.	0.87932|.	D|.	0|.	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	350;1139;1158;1139;1139|.	E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3|.	.;.;.;.;ANKH1_HUMAN|.	H|Y	1139;1172;1139;1139;673;350;1158;292;1139|364	ENSP00000354085:D1139H;ENSP00000297183:D1139H;ENSP00000394489:D1158H;ENSP00000405602:D292H;ENSP00000432016:D1139H|.	ENSP00000432016:D1139H|.	D|X	+|+	1|3	0|2	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139866610|139866610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.908000|0.908000	0.53690|0.53690	9.869000|9.869000	0.99810|0.99810	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAC|TAG		0.383	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747	
ATP8B3	148229	hgsc.bcm.edu	37	19	1783237	1783239	+	In_Frame_Del	DEL	CTC	CTC	-	rs530525816	byFrequency	TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr19:1783237_1783239delCTC	ENST00000310127.6	-	29	3929_3931	c.3691_3693delGAG	c.(3691-3693)gagdel	p.E1231del	ATP8B3_ENST00000525591.1_In_Frame_Del_p.E1194del|ATP8B3_ENST00000539485.1_In_Frame_Del_p.E1241del	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1231					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGAAAATCTCCTCGCTGGGG	0.586														7	0.00139776	0.0	0.0	5008	,	,		17022	0.0		0.005	False		,,,				2504	0.002																0									,	6,3804		0,6,1899					,	-1.0	0.0			33	33,7861		0,33,3914	no	coding,coding	ATP8B3	NM_138813.2,NM_001178002.1	,	0,39,5813	A1A1,A1R,RR		0.418,0.1575,0.3332	,	,		39,11665				SO:0001651	inframe_deletion	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3691_3693delGAG	19.37:g.1783240_1783242delCTC	ENSP00000311336:p.Glu1231del	Somatic		WXS	SOLID	Phase_I	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	In_Frame_Del	DEL	ENST00000310127.6	37	CCDS45901.1																																																																																				0.586	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1		NM_138813	
BIRC3	330	hgsc.bcm.edu	37	11	102206736	102206736	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr11:102206736T>G	ENST00000263464.3	+	7	4114	c.1364T>G	c.(1363-1365)tTt>tGt	p.F455C	BIRC3_ENST00000532808.1_Missense_Mutation_p.F455C	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	455	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		ATGGCACTTTTTCAACATTTG	0.328			T	MALT1	MALT																																			Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0													84.0	89.0	87.0					11																	102206736		2202	4299	6501	SO:0001583	missense	330			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1364T>G	11.37:g.102206736T>G	ENSP00000263464:p.Phe455Cys	Somatic		WXS	SOLID	Phase_I	Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149178	0.57151	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609	T;T	0.20881	2.04;2.04	5.28	1.65	0.23941	DEATH-like (2);Caspase Recruitment (3);	0.370334	0.34386	N	0.004008	T	0.40119	0.1104	M	0.80028	2.48	0.35879	D	0.82882	D	0.65815	0.995	D	0.70935	0.971	T	0.42120	-0.9470	10	0.54805	T	0.06	.	5.1348	0.14928	0.0:0.2165:0.1421:0.6414	.	455	Q13489	BIRC3_HUMAN	C	455;455;223	ENSP00000263464:F455C;ENSP00000432907:F455C	ENSP00000263464:F455C	F	+	2	0	BIRC3	101711946	0.997000	0.39634	0.888000	0.34837	0.996000	0.88848	1.219000	0.32479	0.117000	0.18138	0.533000	0.62120	TTT		0.328	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1		NM_001165	
CARD8	22900	hgsc.bcm.edu	37	19	48735017	48735018	+	Frame_Shift_Ins	INS	-	-	TT	rs146319637|rs140826611	byFrequency	TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr19:48735017_48735018insTT	ENST00000359009.4	-	4	438_439	c.126_127insAA	c.(124-129)aaagtcfs	p.V43fs	CARD8_ENST00000521613.1_Frame_Shift_Ins_p.V98fs|CARD8_ENST00000391898.3_Frame_Shift_Ins_p.V148fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.V148fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.V98fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.V148fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.V148fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.V98fs			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	43					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TCAAAACAGACTTTAGAAGCAT	0.376														211	0.0421326	0.0023	0.0274	5008	,	,		21883	0.0575		0.0527	False		,,,				2504	0.0798																0									,,,,	47,4217		0,47,2085					,,,,	-0.7	0.0		dbSNP_134	104	487,7767		16,455,3656	yes	frameshift,frameshift,frameshift,frameshift,frameshift	CARD8	NM_014959.3,NM_001184903.1,NM_001184902.1,NM_001184901.1,NM_001184900.1	,,,,	16,502,5741	A1A1,A1R,RR		5.9002,1.1023,4.2659	,,,,	,,,,		534,11984				SO:0001589	frameshift_variant	22900			AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.125_126dupAA	19.37:g.48735018_48735019dupTT	ENSP00000351901:p.Val43fs	Somatic		WXS	SOLID	Phase_I	B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Frame_Shift_Ins	INS	ENST00000359009.4	37																																																																																					0.376	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_014959	
CHD7	55636	hgsc.bcm.edu	37	8	61743043	61743043	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr8:61743043C>G	ENST00000423902.2	+	15	4164	c.3685C>G	c.(3685-3687)Ctt>Gtt	p.L1229V	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1229					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTTCACATTTCTTTCCAAAGG	0.398																																																	0													116.0	111.0	113.0					8																	61743043		1880	4109	5989	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3685C>G	8.37:g.61743043C>G	ENSP00000392028:p.Leu1229Val	Somatic		WXS	SOLID	Phase_I	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412394	0.83340	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.77620	-1.11	5.47	5.47	0.80525	SNF2-related (1);	0.000000	0.64402	D	0.000002	D	0.86318	0.5904	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87114	0.2187	10	0.87932	D	0	-14.9724	13.9306	0.63994	0.0:0.9268:0.0:0.0731	.	1229	Q9P2D1	CHD7_HUMAN	V	1229	ENSP00000392028:L1229V	ENSP00000307304:L1229V	L	+	1	0	CHD7	61905597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.083000	0.71326	2.729000	0.93468	0.591000	0.81541	CTT		0.398	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762	
CLTC	1213	hgsc.bcm.edu	37	17	57763101	57763101	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr17:57763101T>G	ENST00000269122.3	+	30	5033	c.4759T>G	c.(4759-4761)Tgg>Ggg	p.W1587G	CLTC_ENST00000393043.1_Missense_Mutation_p.W1587G|CLTC_ENST00000579456.1_Missense_Mutation_p.W524G	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1587	Heavy chain arm.|Proximal segment.|Trimerization. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AGAAACTGCATGGAGGCACAA	0.423			T	"""ALK, TFE3"""	"""ALCL, renal """																																			Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	0													175.0	161.0	166.0					17																	57763101		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.4759T>G	17.37:g.57763101T>G	ENSP00000269122:p.Trp1587Gly	Somatic		WXS	SOLID	Phase_I	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247336	0.59103	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.42131	0.98;0.98	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	M	0.91300	3.195	0.80722	D	1	B;B	0.32283	0.097;0.362	B;P	0.45610	0.109;0.487	T	0.71279	-0.4640	10	0.72032	D	0.01	.	15.211	0.73225	0.0:0.0:0.0:1.0	.	1587;1587	Q00610;Q00610-2	CLH1_HUMAN;.	G	1587	ENSP00000269122:W1587G;ENSP00000376763:W1587G	ENSP00000269122:W1587G	W	+	1	0	CLTC	55117883	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.059000	0.61396	0.477000	0.44152	TGG		0.423	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1		NM_004859	
CNBD1	168975	hgsc.bcm.edu	37	8	88297032	88297032	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr8:88297032A>G	ENST00000518476.1	+	7	949	c.898A>G	c.(898-900)Aag>Gag	p.K300E		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	300										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GGGATATGCAAAGATAAAGGA	0.348																																																	0													40.0	38.0	39.0					8																	88297032		1826	4069	5895	SO:0001583	missense	168975			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.898A>G	8.37:g.88297032A>G	ENSP00000430073:p.Lys300Glu	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000518476.1	37	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.951760	0.34471	.	.	ENSG00000176571	ENST00000518476	D	0.96300	-3.97	5.25	5.25	0.73442	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.52532	D	0.000080	D	0.94046	0.8092	L	0.52573	1.65	0.09310	N	1	P	0.40970	0.734	B	0.40329	0.326	D	0.89220	0.3570	10	0.42905	T	0.14	-8.9038	11.5315	0.50614	1.0:0.0:0.0:0.0	.	300	Q8NA66	CNBD1_HUMAN	E	300	ENSP00000430073:K300E	ENSP00000430073:K300E	K	+	1	0	CNBD1	88366148	0.944000	0.32072	0.055000	0.19348	0.415000	0.31203	4.462000	0.60121	1.981000	0.57761	0.482000	0.46254	AAG		0.348	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2		NM_173538	
COL11A1	1301	hgsc.bcm.edu	37	1	103496778	103496778	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr1:103496778A>G	ENST00000370096.3	-	5	986	c.674T>C	c.(673-675)aTc>aCc	p.I225T	COL11A1_ENST00000353414.4_Missense_Mutation_p.I225T|COL11A1_ENST00000358392.2_Missense_Mutation_p.I225T|COL11A1_ENST00000512756.1_Missense_Mutation_p.I225T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	225	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATCACCTGTGATCAAAAACTG	0.418																																																	0													76.0	68.0	71.0					1																	103496778		2203	4300	6503	SO:0001583	missense	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.674T>C	1.37:g.103496778A>G	ENSP00000359114:p.Ile225Thr	Somatic		WXS	SOLID	Phase_I	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743685	0.69418	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.04083	3.71;3.71;3.71;3.71;3.71;3.71	5.59	5.59	0.84812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	M	0.91354	3.2	0.80722	D	1	D;D;D;D	0.67145	0.968;0.989;0.996;0.991	D;D;D;D	0.78314	0.969;0.985;0.99;0.991	T	0.08229	-1.0732	10	0.87932	D	0	.	15.7618	0.78087	1.0:0.0:0.0:0.0	.	225;225;225;225	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	T	225;225;225;225;225;152	ENSP00000359114:I225T;ENSP00000351163:I225T;ENSP00000302551:I225T;ENSP00000426533:I225T;ENSP00000408640:I225T;ENSP00000410177:I152T	ENSP00000302551:I225T	I	-	2	0	COL11A1	103269366	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	8.820000	0.92003	2.125000	0.65367	0.450000	0.29827	ATC		0.418	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1		NM_080630	
COL25A1	84570	hgsc.bcm.edu;ucsc.edu	37	4	109810856	109810856	+	Splice_Site	SNP	C	C	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr4:109810856C>T	ENST00000399132.1	-	17	1470		c.e17+1		COL25A1_ENST00000399126.1_Splice_Site|COL25A1_ENST00000399127.1_Splice_Site	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GTTATAGTTACCTTAATTCCT	0.398																																																	0													108.0	105.0	106.0					4																	109810856		1869	4110	5979	SO:0001630	splice_region_variant	84570			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.939+1G>A	4.37:g.109810856C>T		Somatic		WXS	SOLID	Phase_I		Splice_Site	SNP	ENST00000399132.1	37	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576270	0.86645	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9387	0.92597	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL25A1	110030305	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.866000	0.63005	2.817000	0.96982	0.557000	0.71058	.		0.398	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2		NM_032518	Intron
CTNNA3	29119	hgsc.bcm.edu;ucsc.edu	37	10	67726369	67726369	+	Splice_Site	SNP	C	C	A			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr10:67726369C>A	ENST00000433211.2	-	17	2575		c.e17+1		CTNNA3_ENST00000373744.4_Splice_Site|CTNNA3_ENST00000373735.1_Splice_Site	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GCAGTACTCACAGCTGACATG	0.423																																																	0													117.0	111.0	113.0					10																	67726369		2203	4300	6503	SO:0001630	splice_region_variant	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2400+1G>T	10.37:g.67726369C>A		Somatic		WXS	SOLID	Phase_I		Splice_Site	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060911	0.76074	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	.	.	.	5.41	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5655	0.61815	0.157:0.843:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTNNA3	67396375	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.776000	0.85560	1.387000	0.46486	0.650000	0.86243	.		0.423	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2		NM_013266	Intron
DAGLB	221955	hgsc.bcm.edu;ucsc.edu	37	7	6474529	6474529	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr7:6474529A>T	ENST00000297056.6	-	4	711	c.542T>A	c.(541-543)tTa>tAa	p.L181*	DAGLB_ENST00000428902.2_Nonsense_Mutation_p.L54*|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000479922.2_5'Flank|DAGLB_ENST00000436575.1_Nonsense_Mutation_p.L140*	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	181					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GCCATTAAGTAACTGGCTTGA	0.493																																																	0													139.0	133.0	135.0					7																	6474529		2203	4300	6503	SO:0001587	stop_gained	221955			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.542T>A	7.37:g.6474529A>T	ENSP00000297056:p.Leu181*	Somatic		WXS	SOLID	Phase_I	A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Nonsense_Mutation	SNP	ENST00000297056.6	37	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	A	38	7.225416	0.98146	.	.	ENSG00000164535	ENST00000297056;ENST00000436575;ENST00000471132;ENST00000428902	.	.	.	5.37	5.37	0.77165	.	0.148157	0.46145	D	0.000302	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3683	0.74541	1.0:0.0:0.0:0.0	.	.	.	.	X	181;140;181;54	.	ENSP00000297056:L181X	L	-	2	0	DAGLB	6441054	0.953000	0.32496	0.059000	0.19551	0.978000	0.69477	8.759000	0.91667	2.024000	0.59613	0.482000	0.46254	TTA		0.493	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2		NM_139179	
DCN	1634	hgsc.bcm.edu;ucsc.edu	37	12	91550907	91550907	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr12:91550907C>A	ENST00000052754.5	-	5	1098	c.597G>T	c.(595-597)atG>atT	p.M199I	DCN_ENST00000303320.3_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.M199I|DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.M199I|DCN_ENST00000420120.2_Missense_Mutation_p.M90I|DCN_ENST00000425043.1_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.M90I|DCN_ENST00000441303.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	199					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AGAGCTTCTTCATTCCCTGGA	0.388																																																	0													140.0	135.0	136.0					12																	91550907		2203	4300	6503	SO:0001583	missense	1634			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.597G>T	12.37:g.91550907C>A	ENSP00000052754:p.Met199Ile	Somatic		WXS	SOLID	Phase_I	Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014083	0.75161	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000552962;ENST00000420120	T;T;T;T;T	0.58210	0.35;3.61;0.35;0.35;3.61	5.69	5.69	0.88448	.	0.083846	0.85682	D	0.000000	T	0.57755	0.2075	M	0.74647	2.275	0.80722	D	1	B;P	0.37955	0.019;0.612	B;B	0.35813	0.053;0.211	T	0.64024	-0.6504	10	0.72032	D	0.01	.	19.7971	0.96490	0.0:1.0:0.0:0.0	.	199;90	P07585;P07585-2	PGS2_HUMAN;.	I	199;90;199;199;90	ENSP00000052754:M199I;ENSP00000228329:M90I;ENSP00000376862:M199I;ENSP00000447654:M199I;ENSP00000413723:M90I	ENSP00000052754:M199I	M	-	3	0	DCN	90075038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.515000	0.60489	2.666000	0.90696	0.585000	0.79938	ATG		0.388	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3		NM_133507	
DISP1	84976	hgsc.bcm.edu	37	1	223178162	223178162	+	Silent	SNP	T	T	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr1:223178162T>C	ENST00000284476.6	+	8	3587	c.3423T>C	c.(3421-3423)ggT>ggC	p.G1141G		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1141					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GTACCTGTGGTCAGATTCCTT	0.478																																																	0													77.0	80.0	79.0					1																	223178162		2203	4300	6503	SO:0001819	synonymous_variant	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3423T>C	1.37:g.223178162T>C		Somatic		WXS	SOLID	Phase_I	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	CCDS1536.1																																																																																				0.478	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1		NM_032890	
DNAH11	8701	hgsc.bcm.edu;ucsc.edu	37	7	21784607	21784607	+	Silent	SNP	A	A	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr7:21784607A>T	ENST00000409508.3	+	51	8467	c.8436A>T	c.(8434-8436)acA>acT	p.T2812T	DNAH11_ENST00000328843.6_Silent_p.T2819T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2819					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGATTCTTACAGAAACGTTAG	0.433									Kartagener syndrome																																								0													107.0	101.0	103.0					7																	21784607		1977	4159	6136	SO:0001819	synonymous_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8436A>T	7.37:g.21784607A>T		Somatic		WXS	SOLID	Phase_I	Q9UJ82	Silent	SNP	ENST00000409508.3	37																																																																																					0.433	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777	
DPYSL2	1808	hgsc.bcm.edu	37	8	26505237	26505238	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr8:26505237_26505238insTA	ENST00000311151.5	+	11	1614_1615	c.1202_1203insTA	c.(1201-1206)attgctfs	p.A402fs	DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.A366fs|DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.A366fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	402					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AAAGGCCGCATTGCTGTGGGAT	0.545																																																	0																																										SO:0001589	frameshift_variant	1808			D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	Exception_encountered	8.37:g.26505237_26505238insTA	ENSP00000309539:p.Ala402fs	Somatic		WXS	SOLID	Phase_I	A8K5H2|B4DR31|D3DSS7|O00424	Frame_Shift_Ins	INS	ENST00000311151.5	37	CCDS6051.1																																																																																				0.545	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3		NM_001386	
DYNC1H1	1778	hgsc.bcm.edu;ucsc.edu	37	14	102516872	102516872	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr14:102516872G>A	ENST00000360184.4	+	78	14077	c.13913G>A	c.(13912-13914)cGg>cAg	p.R4638Q	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4638					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTCTACGAGCGGGGTGTCGCA	0.433																																																	0													129.0	129.0	129.0					14																	102516872		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13913G>A	14.37:g.102516872G>A	ENSP00000348965:p.Arg4638Gln	Somatic		WXS	SOLID	Phase_I	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	35	5.553053	0.96501	.	.	ENSG00000197102	ENST00000360184	T	0.08807	3.05	5.61	5.61	0.85477	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.04900	-1.0919	10	0.38643	T	0.18	.	19.652	0.95819	0.0:0.0:1.0:0.0	.	4638	Q14204	DYHC1_HUMAN	Q	4638	ENSP00000348965:R4638Q	ENSP00000348965:R4638Q	R	+	2	0	DYNC1H1	101586625	1.000000	0.71417	0.962000	0.40283	0.640000	0.38277	9.495000	0.97964	2.656000	0.90262	0.561000	0.74099	CGG		0.433	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		NM_001376	
EIF2AK3	9451	hgsc.bcm.edu;ucsc.edu	37	2	88874521	88874521	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr2:88874521A>T	ENST00000303236.3	-	13	2781	c.2480T>A	c.(2479-2481)tTg>tAg	p.L827*	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Nonsense_Mutation_p.L676*	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	827	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						GCCAATATGCAATCGATTAGT	0.403																																					GBM(138;671 1851 16235 39058 45249)												0													124.0	123.0	123.0					2																	88874521		2203	4300	6503	SO:0001587	stop_gained	9451			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2480T>A	2.37:g.88874521A>T	ENSP00000307235:p.Leu827*	Somatic		WXS	SOLID	Phase_I	A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Nonsense_Mutation	SNP	ENST00000303236.3	37	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	A	37	6.499041	0.97616	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	.	.	.	5.99	4.81	0.61882	.	0.478516	0.22458	N	0.059786	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-1.3492	6.8378	0.23945	0.798:0.0:0.202:0.0	.	.	.	.	X	676;827;676;706	.	ENSP00000307235:L827X	L	-	2	0	EIF2AK3	88655636	0.007000	0.16637	0.003000	0.11579	0.198000	0.23893	1.328000	0.33758	1.042000	0.40150	0.533000	0.62120	TTG		0.403	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2		NM_004836	
FMN1	342184	hgsc.bcm.edu;ucsc.edu	37	15	33261563	33261563	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr15:33261563C>A	ENST00000559047.1	-	5	2338	c.2339G>T	c.(2338-2340)gGt>gTt	p.G780V	FMN1_ENST00000561249.1_Missense_Mutation_p.G682V|FMN1_ENST00000334528.9_Missense_Mutation_p.G557V|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	780	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTCTTCACAACCCCCTCGCCA	0.493																																																	0													285.0	264.0	271.0					15																	33261563		1984	4168	6152	SO:0001583	missense	342184			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2339G>T	15.37:g.33261563C>A	ENSP00000454047:p.Gly780Val	Somatic		WXS	SOLID	Phase_I	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	C	4.304	0.055683	0.08291	.	.	ENSG00000248905	ENST00000334528	T	0.37915	1.17	4.68	1.72	0.24424	.	0.532391	0.20836	N	0.084782	T	0.28101	0.0693	L	0.43152	1.355	.	.	.	B	0.28850	0.225	B	0.30316	0.114	T	0.27806	-1.0063	9	0.44086	T	0.13	.	8.2491	0.31706	0.0:0.6858:0.0:0.3142	.	557	Q68DA7-5	.	V	557	ENSP00000333950:G557V	ENSP00000333950:G557V	G	-	2	0	FMN1	31048855	0.608000	0.26966	0.078000	0.20375	0.095000	0.18619	1.969000	0.40510	0.198000	0.20407	0.455000	0.32223	GGT		0.493	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1		NM_001103184	
FBN1	2200	hgsc.bcm.edu;ucsc.edu	37	15	48780624	48780624	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr15:48780624C>T	ENST00000316623.5	-	26	3604	c.3149G>A	c.(3148-3150)aGc>aAc	p.S1050N		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1050	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCACTTAAAGCTGCCAATGGT	0.478																																																	0													91.0	86.0	88.0					15																	48780624		2198	4296	6494	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3149G>A	15.37:g.48780624C>T	ENSP00000325527:p.Ser1050Asn	Somatic		WXS	SOLID	Phase_I	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	36	5.620632	0.96660	.	.	ENSG00000166147	ENST00000316623	D	0.95307	-3.67	6.17	6.17	0.99709	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97660	0.9233	M	0.85777	2.775	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.97490	1.0053	10	0.72032	D	0.01	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	1050	P35555	FBN1_HUMAN	N	1050	ENSP00000325527:S1050N	ENSP00000325527:S1050N	S	-	2	0	FBN1	46567916	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	AGC		0.478	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			
GSG1	83445	hgsc.bcm.edu	37	12	13241706	13241706	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr12:13241706A>G	ENST00000396302.3	-	3	661	c.463T>C	c.(463-465)Tcc>Ccc	p.S155P	GSG1_ENST00000324458.8_Intron|GSG1_ENST00000457134.2_Intron|GSG1_ENST00000432710.2_Intron|GSG1_ENST00000337630.6_Intron|GSG1_ENST00000396310.2_Intron|GSG1_ENST00000351606.6_Missense_Mutation_p.S191P|GSG1_ENST00000537302.1_Intron	NM_031289.3	NP_112579.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	0						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GAGGGGAGGGAAGCCTTCTCC	0.522																																																	0													95.0	75.0	82.0					12																	13241706		2203	4300	6503	SO:0001583	missense	83445			BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000396302.3:c.463T>C	12.37:g.13241706A>G	ENSP00000379596:p.Ser155Pro	Somatic		WXS	SOLID	Phase_I	Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Missense_Mutation	SNP	ENST00000396302.3	37	CCDS8659.2	.	.	.	.	.	.	.	.	.	.	A	9.983	1.228733	0.22542	.	.	ENSG00000111305	ENST00000396302;ENST00000351606;ENST00000405543;ENST00000545401;ENST00000545699	T;T;T;T	0.33216	1.42;1.43;1.44;1.49	3.9	2.77	0.32553	.	.	.	.	.	T	0.12603	0.0306	N	0.08118	0	0.80722	D	1	P;B;B	0.49447	0.924;0.005;0.0	B;B;B	0.38616	0.277;0.012;0.001	T	0.04915	-1.0918	9	0.34782	T	0.22	.	5.8752	0.18824	0.8816:0.0:0.1184:0.0	.	191;191;155	Q2KHT4-7;G3XAB9;F1T0A0	.;.;.	P	155;191;152;168;202	ENSP00000379596:S155P;ENSP00000336857:S191P;ENSP00000445884:S168P;ENSP00000440684:S202P	ENSP00000336857:S191P	S	-	1	0	GSG1	13132973	0.125000	0.22332	0.952000	0.39060	0.783000	0.44284	0.543000	0.23237	0.864000	0.35578	0.383000	0.25322	TCC		0.522	GSG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316545.1		NM_031289	
IL27RA	9466	hgsc.bcm.edu;ucsc.edu	37	19	14157032	14157032	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr19:14157032C>T	ENST00000263379.2	+	7	960	c.835C>T	c.(835-837)Cca>Tca	p.P279S		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	279					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TGAGCTGAGTCCAGAAGGAAT	0.582																																					Colon(164;1849 1896 4443 37792 47834)												0													159.0	159.0	159.0					19																	14157032		2203	4300	6503	SO:0001583	missense	9466			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.835C>T	19.37:g.14157032C>T	ENSP00000263379:p.Pro279Ser	Somatic		WXS	SOLID	Phase_I	A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	C	0.700	-0.791116	0.02884	.	.	ENSG00000104998	ENST00000263379	T	0.60171	0.21	3.9	0.323	0.15893	.	2.498820	0.01926	N	0.040873	T	0.32852	0.0843	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17379	-1.0371	10	0.11485	T	0.65	-8.9008	3.2729	0.06888	0.2047:0.562:0.0:0.2332	.	279	Q6UWB1	I27RA_HUMAN	S	279	ENSP00000263379:P279S	ENSP00000263379:P279S	P	+	1	0	IL27RA	14018032	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.032000	0.12266	0.339000	0.23719	-0.259000	0.10710	CCA		0.582	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1		NM_004843	
QRICH1	54870	hgsc.bcm.edu;ucsc.edu	37	3	49065754	49065754	+	IGR	SNP	A	A	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr3:49065754A>C	ENST00000395443.2	-	0	3549				IMPDH2_ENST00000326739.4_Splice_Site_p.L84R|RP13-131K19.6_ENST00000607245.1_RNA	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ACCGCCTGTAAGCTACAGGAT	0.488																																																	0													83.0	78.0	80.0					3																	49065754		2203	4300	6503	SO:0001628	intergenic_variant	3615				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49065754A>C		Somatic		WXS	SOLID	Phase_I	Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.972965	0.92919	.	.	ENSG00000178035	ENST00000537036;ENST00000326739	T	0.76060	-0.99	6.08	6.08	0.98989	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	T	0.79776	0.4504	L	0.35854	1.095	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74785	-0.3547	10	0.15499	T	0.54	-15.3617	16.6438	0.85155	1.0:0.0:0.0:0.0	.	84	P12268	IMDH2_HUMAN	R	84	ENSP00000321584:L84R	ENSP00000321584:L84R	L	-	2	0	IMPDH2	49040758	1.000000	0.71417	0.999000	0.59377	0.770000	0.43624	9.207000	0.95064	2.333000	0.79357	0.533000	0.62120	CTT		0.488	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1		NM_017730	
ITGB5	3693	hgsc.bcm.edu	37	3	124482495	124482503	+	In_Frame_Del	DEL	TTGTTGAAC	TTGTTGAAC	-	rs144662766|rs150512726|rs149489624|rs140998759|rs547715576	byFrequency	TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	TTGTTGAAC	TTGTTGAAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr3:124482495_124482503delTTGTTGAAC	ENST00000296181.4	-	15	2663_2671	c.2367_2375delGTTCAACAA	c.(2365-2376)aagttcaacaaa>aaa	p.789_792KFNK>K	ITGB5_ENST00000461306.1_5'Flank	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	789				Missing (in Ref. 2; AAA52707). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		ATTGTAGGATTTGTTGAACTTGTTGAAGG	0.512														437	0.0872604	0.0053	0.0821	5008	,	,		26574	0.0486		0.1282	False		,,,				2504	0.1994																0										191,4075		46,99,1988						-3.5	1.0		dbSNP_129	167	1165,7089		151,863,3113	no	coding	ITGB5	NM_002213.3		197,962,5101	A1A1,A1R,RR		14.1144,4.4773,10.8307				1356,11164				SO:0001651	inframe_deletion	3693			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.2367_2375delGTTCAACAA	3.37:g.124482495_124482503delTTGTTGAAC	ENSP00000296181:p.Lys789_Asn791del	Somatic		WXS	SOLID	Phase_I	B0LPF8|B2RD70	In_Frame_Del	DEL	ENST00000296181.4	37	CCDS3030.1																																																																																				0.512	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3		NM_002213	
LAMP2	3920	hgsc.bcm.edu;ucsc.edu	37	X	119562465	119562465	+	IGR	SNP	A	A	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chrX:119562465A>G	ENST00000200639.4	-	0	1867				LAMP2_ENST00000434600.2_Silent_p.A370A|LAMP2_ENST00000538785.1_Silent_p.A259A			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2						blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GGTCAGAGTCAGCAGAACATT	0.373																																																	0													74.0	59.0	63.0					X																	119562465		1568	3582	5150	SO:0001628	intergenic_variant	3920			X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301		X.37:g.119562465A>G		Somatic		WXS	SOLID	Phase_I	A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Silent	SNP	ENST00000200639.4	37	CCDS14599.1																																																																																				0.373	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			
LATS1	9113	hgsc.bcm.edu;ucsc.edu	37	6	150001249	150001249	+	Silent	SNP	A	A	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr6:150001249A>G	ENST00000543571.1	-	5	2902	c.2355T>C	c.(2353-2355)atT>atC	p.I785I	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Silent_p.I785I	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CACCCCCAGGAATGTAGTCCA	0.398																																																	0													120.0	120.0	120.0					6																	150001249		2203	4300	6503	SO:0001819	synonymous_variant	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2355T>C	6.37:g.150001249A>G		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000543571.1	37	CCDS34551.1																																																																																				0.398	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4		NM_004690	
LRRC41	10489	hgsc.bcm.edu	37	1	46744679	46744679	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr1:46744679T>C	ENST00000343304.6	-	10	2582	c.2297A>G	c.(2296-2298)cAc>cGc	p.H766R	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	766					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GAGGCGCAGGTGACCAAAGGC	0.607																																																	0													41.0	47.0	45.0					1																	46744679		2203	4300	6503	SO:0001583	missense	10489			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2297A>G	1.37:g.46744679T>C	ENSP00000343298:p.His766Arg	Somatic		WXS	SOLID	Phase_I	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	CCDS533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.09|16.09	3.025511|3.025511	0.54683|0.54683	.|.	.|.	ENSG00000132128|ENSG00000132128	ENST00000343304|ENST00000371972	T|.	0.52526|.	0.66|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.073131|.	0.56097|.	D|.	0.000027|.	T|T	0.56352|0.56352	0.1979|0.1979	N|N	0.24115|0.24115	0.695|0.695	0.45490|0.45490	D|D	0.998453|0.998453	P|.	0.46512|.	0.879|.	P|.	0.45099|.	0.469|.	T|T	0.62343|0.62343	-0.6874|-0.6874	10|6	0.42905|0.87932	T|D	0.14|0	-11.1244|-11.1244	15.326|15.326	0.74164|0.74164	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	766|.	Q15345|.	LRC41_HUMAN|.	R|A	766|596	ENSP00000343298:H766R|.	ENSP00000343298:H766R|ENSP00000361040:T596A	H|T	-|-	2|1	0|0	LRRC41|LRRC41	46517266|46517266	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.287000|3.287000	0.51732|0.51732	2.026000|2.026000	0.59711|0.59711	0.397000|0.397000	0.26171|0.26171	CAC|ACC		0.607	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1		NM_006369	
LRRC45	201255	hgsc.bcm.edu;ucsc.edu	37	17	79986136	79986136	+	Silent	SNP	C	C	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr17:79986136C>T	ENST00000306688.3	+	10	1416	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	358						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AGTCTAAACTCCTCAGAGACT	0.622																																																	0													29.0	28.0	28.0					17																	79986136		2171	4284	6455	SO:0001819	synonymous_variant	201255			BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.1074C>T	17.37:g.79986136C>T		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000306688.3	37	CCDS11797.1																																																																																				0.622	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442058.1		NM_144999	
MAP4K5	11183	hgsc.bcm.edu	37	14	50943023	50943023	+	Splice_Site	SNP	C	C	A			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr14:50943023C>A	ENST00000013125.4	-	7	698	c.380G>T	c.(379-381)gGt>gTt	p.G127V	MAP4K5_ENST00000557578.1_Intron	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					ATAGGCAAGACCCTAAAAGTT	0.249																																																	0													17.0	16.0	17.0					14																	50943023		1749	3956	5705	SO:0001630	splice_region_variant	11183			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.379-1G>T	14.37:g.50943023C>A		Somatic		WXS	SOLID	Phase_I	Q8IYF6	Missense_Mutation	SNP	ENST00000013125.4	37		.	.	.	.	.	.	.	.	.	.	C	25.6	4.653119	0.88056	.	.	ENSG00000012983	ENST00000013125;ENST00000555216;ENST00000557390	T;T;T	0.37752	2.08;1.18;1.18	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68439	0.3001	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73496	-0.3964	10	0.87932	D	0	.	18.9711	0.92715	0.0:1.0:0.0:0.0	.	127;127	B2R928;Q9Y4K4	.;M4K5_HUMAN	V	127;60;127	ENSP00000013125:G127V;ENSP00000452289:G60V;ENSP00000451980:G127V	ENSP00000013125:G127V	G	-	2	0	MAP4K5	50012773	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.648000	0.83479	2.776000	0.95493	0.650000	0.86243	GGT		0.249	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1		NM_006575	Missense_Mutation
KMT2D	8085	hgsc.bcm.edu	37	12	49442448	49442448	+	Silent	SNP	T	T	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr12:49442448T>C	ENST00000301067.7	-	13	4124	c.4125A>G	c.(4123-4125)ctA>ctG	p.L1375L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1375					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTACCTGCATTAGGACAAATT	0.463																																																	0													244.0	245.0	245.0					12																	49442448		2012	4175	6187	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4125A>G	12.37:g.49442448T>C		Somatic		WXS	SOLID	Phase_I	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.463	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			
MRPL50	54534	hgsc.bcm.edu	37	9	104152751	104152752	+	Frame_Shift_Ins	INS	-	-	TA	rs201880400		TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr9:104152751_104152752insTA	ENST00000374865.4	-	2	494_495	c.473_474insTA	c.(472-474)tacfs	p.Y158fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	158						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				GAATTGCTTAGTAACTCCAAGT	0.381																																																	0										42,4218		1,40,2089						2.0	0.9			63	45,8193		1,43,4075	no	frameshift	MRPL50	NM_019051.2		2,83,6164	A1A1,A1R,RR		0.5462,0.9859,0.6961				87,12411				SO:0001589	frameshift_variant	54534			AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.472_473dupTA	9.37:g.104152752_104152753dupTA	ENSP00000363999:p.Tyr158fs	Somatic		WXS	SOLID	Phase_I	B7Z358|Q5T7E0|Q9NX15	Frame_Shift_Ins	INS	ENST00000374865.4	37	CCDS6753.1																																																																																				0.381	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1		NM_019051	
MTHFSD	64779	hgsc.bcm.edu	37	16	86575780	86575780	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr16:86575780T>A	ENST00000360900.6	-	6	507	c.482A>T	c.(481-483)gAa>gTa	p.E161V	MTHFSD_ENST00000543303.2_Missense_Mutation_p.E160V|MTHFSD_ENST00000381214.5_Missense_Mutation_p.E161V|MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000322911.6_Missense_Mutation_p.E160V	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	161							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						CATGGCATATTCCAGATCGGC	0.572																																																	0													74.0	74.0	74.0					16																	86575780		1985	4169	6154	SO:0001583	missense	64779			AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.482A>T	16.37:g.86575780T>A	ENSP00000354152:p.Glu161Val	Somatic		WXS	SOLID	Phase_I	A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP	ENST00000360900.6	37	CCDS54047.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.668930	0.67814	.	.	ENSG00000103248	ENST00000543303;ENST00000381214;ENST00000360900;ENST00000322911	T;T;T	0.42131	0.98;0.98;0.98	5.6	5.6	0.85130	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74733	0.3755	H	0.95151	3.63	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.83101	-0.0128	10	0.87932	D	0	-27.5322	14.95	0.71064	0.0:0.0:0.0:1.0	.	161;160;161;160	E9PAM1;B7ZLC0;Q2M296;Q2M296-2	.;.;MTHSD_HUMAN;.	V	159;161;161;160	ENSP00000370612:E161V;ENSP00000354152:E161V;ENSP00000326777:E160V	ENSP00000326777:E160V	E	-	2	0	MTHFSD	85133281	1.000000	0.71417	0.702000	0.30337	0.101000	0.19017	7.264000	0.78432	2.111000	0.64477	0.533000	0.62120	GAA		0.572	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1		NM_022764	
MTMR12	54545	hgsc.bcm.edu;ucsc.edu	37	5	32268894	32268894	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr5:32268894T>C	ENST00000382142.3	-	6	666	c.496A>G	c.(496-498)Agt>Ggt	p.S166G	MTMR12_ENST00000280285.5_Missense_Mutation_p.S166G|MTMR12_ENST00000264934.5_Missense_Mutation_p.S166G	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	166						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATTATGCCACTGACAATCTAA	0.358																																																	0													108.0	104.0	105.0					5																	32268894		2203	4300	6503	SO:0001583	missense	54545			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.496A>G	5.37:g.32268894T>C	ENSP00000371577:p.Ser166Gly	Somatic		WXS	SOLID	Phase_I	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.947993	0.73787	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.82711	-1.64;-1.64;-1.64	5.48	4.3	0.51218	.	0.179092	0.52532	D	0.000080	D	0.87224	0.6124	L	0.57536	1.79	0.41391	D	0.987615	D;D;D	0.71674	0.998;0.993;0.988	D;P;P	0.63488	0.915;0.879;0.76	D	0.86142	0.1582	10	0.44086	T	0.13	.	11.7664	0.51933	0.132:0.0:0.0:0.868	.	166;166;166	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	G	166	ENSP00000280285:S166G;ENSP00000371577:S166G;ENSP00000264934:S166G	ENSP00000264934:S166G	S	-	1	0	MTMR12	32304651	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.606000	0.46291	0.895000	0.36342	0.460000	0.39030	AGT		0.358	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1		NM_019061	
MUC16	94025	hgsc.bcm.edu	37	19	9047853	9047853	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr19:9047853G>C	ENST00000397910.4	-	5	33981	c.33778C>G	c.(33778-33780)Ccg>Gcg	p.P11260A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11262	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTGTAAACGGCTCACCAGTG	0.483																																																	0													67.0	60.0	62.0					19																	9047853		1940	4145	6085	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33778C>G	19.37:g.9047853G>C	ENSP00000381008:p.Pro11260Ala	Somatic		WXS	SOLID	Phase_I	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.164	0.215872	0.09810	.	.	ENSG00000181143	ENST00000397910	T	0.03094	4.05	2.78	1.74	0.24563	.	.	.	.	.	T	0.04634	0.0126	L	0.34521	1.04	.	.	.	P	0.44659	0.84	P	0.46850	0.529	T	0.26985	-1.0087	8	0.87932	D	0	.	5.5181	0.16918	0.1586:0.0:0.8414:0.0	.	11260	B5ME49	.	A	11260	ENSP00000381008:P11260A	ENSP00000381008:P11260A	P	-	1	0	MUC16	8908853	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.238000	0.08977	0.714000	0.32081	0.556000	0.70494	CCG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
MYO3A	53904	hgsc.bcm.edu	37	10	26385321	26385321	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr10:26385321A>G	ENST00000265944.5	+	16	1740	c.1574A>G	c.(1573-1575)aAt>aGt	p.N525S	MYO3A_ENST00000543632.1_Missense_Mutation_p.N525S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	525	Myosin motor.		N -> K (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N525S(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGAGAAAAAAATTTTCATATT	0.323																																																	2	Substitution - Missense(2)	ovary(2)											30.0	34.0	33.0					10																	26385321		2194	4287	6481	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1574A>G	10.37:g.26385321A>G	ENSP00000265944:p.Asn525Ser	Somatic		WXS	SOLID	Phase_I	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.904706	0.72868	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;D	0.88431	-0.92;-2.38	5.48	4.33	0.51752	Myosin head, motor domain (2);	0.042713	0.85682	D	0.000000	D	0.93006	0.7774	M	0.66439	2.03	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.99;0.994;1.0	D	0.93010	0.6431	10	0.87932	D	0	.	12.136	0.53972	0.8716:0.0:0.0:0.1284	.	525;525;525	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	S	525	ENSP00000265944:N525S;ENSP00000445909:N525S	ENSP00000265944:N525S	N	+	2	0	MYO3A	26425327	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.910000	0.92685	0.993000	0.38866	0.533000	0.62120	AAT		0.323	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1		NM_017433	
NLRP11	204801	hgsc.bcm.edu	37	19	56320980	56320980	+	Silent	SNP	G	G	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr19:56320980G>C	ENST00000589093.1	-	3	1089	c.996C>G	c.(994-996)ctC>ctG	p.L332L	NLRP11_ENST00000360133.3_Silent_p.L332L|NLRP11_ENST00000443188.1_Silent_p.L332L|NLRP11_ENST00000592953.1_Silent_p.L233L|NLRP11_ENST00000589824.2_Silent_p.L332L			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	332	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACAGACCCACGAGTATTTCAT	0.527																																																	0													45.0	42.0	43.0					19																	56320980		2203	4300	6503	SO:0001819	synonymous_variant	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.996C>G	19.37:g.56320980G>C		Somatic		WXS	SOLID	Phase_I	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	CCDS12935.1																																																																																				0.527	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1		NM_145007	
OR52D1	390066	hgsc.bcm.edu	37	11	5510540	5510541	+	Frame_Shift_Ins	INS	-	-	GGCT	rs146317894|rs576495879|rs190320444|rs36066208|rs377247106	byFrequency	TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr11:5510540_5510541insGGCT	ENST00000322641.5	+	1	626_627	c.604_605insGGCT	c.(604-606)gggfs	p.-203fs	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1						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)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTGTCTATGGGCTAACTGTG	0.49														471	0.0940495	0.0212	0.1715	5008	,	,		23752	0.0754		0.1779	False		,,,				2504	0.0706																0										221,4041		4,213,1914						5.5	1.0		dbSNP_130	269	1217,7035		95,1027,3004	no	frameshift	OR52D1	NM_001005163.2		99,1240,4918	A1A1,A1R,RR		14.7479,5.1854,11.4911				1438,11076				SO:0001589	frameshift_variant	390066			BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.605_608dupGGCT	11.37:g.5510541_5510544dupGGCT	ENSP00000326232:p.Leu203fs	Somatic		WXS	SOLID	Phase_I	B9EGY9|Q6IFI6	Frame_Shift_Ins	INS	ENST00000322641.5	37	CCDS31384.1																																																																																				0.490	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1		NM_001005163	
OR5M10	390167	hgsc.bcm.edu	37	11	56344844	56344851	+	Frame_Shift_Del	DEL	CATTGAAG	CATTGAAG	-	rs148438199	byFrequency	TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	CATTGAAG	CATTGAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr11:56344844_56344851delCATTGAAG	ENST00000526812.2	-	1	412_419	c.347_354delCTTCAATG	c.(346-354)gcttcaatgfs	p.ASM116fs		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GATCCAATGCCATTGAAGCAAGGAAGTA	0.452														198	0.0395367	0.003	0.049	5008	,	,		24973	0.001		0.0974	False		,,,				2504	0.0624																0										44,3794		3,38,1878						3.1	0.9		dbSNP_134	159	644,7378		32,580,3399	no	frameshift	OR5M10	NM_001004741.1		35,618,5277	A1A1,A1R,RR		8.0279,1.1464,5.801				688,11172				SO:0001589	frameshift_variant	390167			BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.347_354delCTTCAATG	11.37:g.56344844_56344851delCATTGAAG	ENSP00000436004:p.Ala116fs	Somatic		WXS	SOLID	Phase_I	B9EIL9	Frame_Shift_Del	DEL	ENST00000526812.2	37	CCDS53630.1																																																																																				0.452	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1		NM_001004741	
OR5T1	390155	hgsc.bcm.edu	37	11	56043250	56043253	+	Frame_Shift_Del	DEL	ATCT	ATCT	-			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	ATCT	ATCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr11:56043250_56043253delATCT	ENST00000313033.2	+	1	222_225	c.136_139delATCT	c.(136-141)atctatfs	p.IY46fs		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ATTTTTAGCAATCTATCTATTCAC	0.328																																																	0																																										SO:0001589	frameshift_variant	390155			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.136_139delATCT	11.37:g.56043254_56043257delATCT	ENSP00000323612:p.Ile46fs	Somatic		WXS	SOLID	Phase_I	B2RNM9	Frame_Shift_Del	DEL	ENST00000313033.2	37	CCDS31525.1																																																																																				0.328	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1		NM_001004745	
PARP8	79668	hgsc.bcm.edu	37	5	50093025	50093025	+	Silent	SNP	T	T	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr5:50093025T>G	ENST00000281631.5	+	14	1691	c.1533T>G	c.(1531-1533)gtT>gtG	p.V511V	PARP8_ENST00000505697.2_Silent_p.V511V|PARP8_ENST00000505554.1_Silent_p.V490V|PARP8_ENST00000503750.2_Silent_p.V511V|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Silent_p.V511V|PARP8_ENST00000514342.2_Silent_p.V264V	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	511						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ATTGTGTGGTTTGTGATGAGC	0.343																																																	0													127.0	115.0	119.0					5																	50093025		2202	4300	6502	SO:0001819	synonymous_variant	79668			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1533T>G	5.37:g.50093025T>G		Somatic		WXS	SOLID	Phase_I	Q3KRB7|Q6DHZ1|Q9H754	Silent	SNP	ENST00000281631.5	37	CCDS3954.1																																																																																				0.343	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3		NM_024615	
PRKCD	5580	hgsc.bcm.edu	37	3	53219628	53219628	+	Silent	SNP	C	C	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr3:53219628C>T	ENST00000394729.2	+	10	1225	c.897C>T	c.(895-897)tcC>tcT	p.S299S	PRKCD_ENST00000330452.3_Silent_p.S299S	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	299					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.S299S(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	AGAGAGCCTCCCGGAGATCAG	0.572																																																	1	Substitution - coding silent(1)	lung(1)											83.0	92.0	89.0					3																	53219628		2203	4300	6503	SO:0001819	synonymous_variant	5580				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.897C>T	3.37:g.53219628C>T		Somatic		WXS	SOLID	Phase_I	B0KZ81|B2R834|Q15144|Q86XJ6	Silent	SNP	ENST00000394729.2	37	CCDS2870.1																																																																																				0.572	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			
RBBP5	5929	hgsc.bcm.edu;ucsc.edu	37	1	205084072	205084072	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr1:205084072C>G	ENST00000264515.6	-	3	204	c.63G>C	c.(61-63)ttG>ttC	p.L21F	RBBP5_ENST00000484379.1_5'UTR|RBBP5_ENST00000367164.1_Missense_Mutation_p.L21F	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	21					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TGATACAATCCAAAGTTCCAT	0.403																																																	0													39.0	37.0	38.0					1																	205084072		2203	4300	6503	SO:0001583	missense	5929			BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.63G>C	1.37:g.205084072C>G	ENSP00000264515:p.Leu21Phe	Somatic		WXS	SOLID	Phase_I	A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040639	0.93685	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.66638	-0.22;-0.19	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.84266	0.5434	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.994	D	0.85588	0.1244	10	0.87932	D	0	.	19.6939	0.96016	0.0:1.0:0.0:0.0	.	56;21;21	B4DMM7;Q15291-2;Q15291	.;.;RBBP5_HUMAN	F	21	ENSP00000264515:L21F;ENSP00000356132:L21F	ENSP00000264515:L21F	L	-	3	2	RBBP5	203350695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.826000	0.62715	2.764000	0.94973	0.650000	0.86243	TTG		0.403	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1		NM_005057	
RBM14	10432	hgsc.bcm.edu	37	11	66392311	66392312	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr11:66392311_66392312delGC	ENST00000310137.4	+	2	1103_1104	c.964_965delGC	c.(964-966)gcafs	p.A325fs	RBM14-RBM4_ENST00000511114.1_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409738.4_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	325	Ala-rich.|TRBP-interacting domain.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGGGGGTCAGGCAGCTGCAGCT	0.619																																																	0																																										SO:0001589	frameshift_variant	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.964_965delGC	11.37:g.66392311_66392312delGC	ENSP00000311747:p.Ala325fs	Somatic		WXS	SOLID	Phase_I	B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Frame_Shift_Del	DEL	ENST00000310137.4	37	CCDS8147.1																																																																																				0.619	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1		NM_006328	
RNF135	84282	hgsc.bcm.edu;ucsc.edu	37	17	29311739	29311739	+	Silent	SNP	A	A	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr17:29311739A>T	ENST00000328381.5	+	2	1350	c.477A>T	c.(475-477)tcA>tcT	p.S159S	RNF135_ENST00000324689.4_Silent_p.S159S|RNF135_ENST00000443677.2_Intron|RNF135_ENST00000535306.2_Silent_p.S159S	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	159					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GGCCCCTATCAGAATCTGGAC	0.512																																																	1	Unknown(1)	central_nervous_system(1)											110.0	114.0	112.0					17																	29311739		2203	4300	6503	SO:0001819	synonymous_variant	84282			AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"""RING-type (C3HC4) zinc fingers"""	21158	protein-coding gene	gene with protein product	"""riplet"""	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.477A>T	17.37:g.29311739A>T		Somatic		WXS	SOLID	Phase_I	A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Silent	SNP	ENST00000328381.5	37	CCDS11262.1																																																																																				0.512	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256342.3		NM_032322	
SCAMP2	10066	hgsc.bcm.edu	37	15	75143007	75143007	+	Silent	SNP	T	T	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr15:75143007T>G	ENST00000268099.9	-	6	589	c.480A>C	c.(478-480)tcA>tcC	p.S160S		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	160					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						ACAGAGTCACTGAATGCACTG	0.562																																																	0													88.0	83.0	85.0					15																	75143007		2197	4295	6492	SO:0001819	synonymous_variant	10066			AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"""Secretory carrier membrane proteins"""	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.480A>C	15.37:g.75143007T>G		Somatic		WXS	SOLID	Phase_I	B2RDF0|Q9BQE8	Silent	SNP	ENST00000268099.9	37	CCDS10271.1																																																																																				0.562	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3		NM_005697	
SEPHS2	22928	hgsc.bcm.edu	37	16	30456532	30456532	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr16:30456532T>C	ENST00000478753.2	-	1	970	c.517A>G	c.(517-519)Atg>Gtg	p.M173V	SEPHS2_ENST00000500504.2_Missense_Mutation_p.M173V|SEPHS2_ENST00000542752.1_Missense_Mutation_p.M116V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	173					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AACATCAACATGTTGTCACAC	0.522																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)												0													113.0	109.0	111.0					16																	30456532		2135	4233	6368	SO:0001583	missense	22928			BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.517A>G	16.37:g.30456532T>C	ENSP00000418669:p.Met173Val	Somatic		WXS	SOLID	Phase_I	Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37		.	.	.	.	.	.	.	.	.	.	T	15.93	2.976970	0.53720	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.27720	1.65;1.65;1.65	5.64	5.64	0.86602	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	L	0.39692	1.235	0.80722	D	1	B;P	0.38745	0.41;0.645	B;B	0.40329	0.326;0.228	T	0.03673	-1.1014	10	0.40728	T	0.16	-21.7722	14.1194	0.65177	0.0:0.0:0.0:1.0	.	173;116	Q99611;F5H8F9	SPS2_HUMAN;.	V	173;116;124;173	ENSP00000418669:M173V;ENSP00000443601:M116V;ENSP00000426234:M173V	ENSP00000390233:M124V	M	-	1	0	SEPHS2	30364033	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.909000	0.87444	2.281000	0.76405	0.533000	0.62120	ATG		0.522	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11		NM_012248	
SIRPA	140885	hgsc.bcm.edu	37	20	1896052	1896054	+	In_Frame_Del	DEL	CGA	CGA	-	rs139878822|rs202172737	byFrequency	TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	CGA	CGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr20:1896052_1896054delCGA	ENST00000358771.4	+	2	539_541	c.387_389delCGA	c.(385-390)cccgat>cct	p.D131del	SIRPA_ENST00000356025.3_In_Frame_Del_p.D131del|SIRPA_ENST00000400068.3_In_Frame_Del_p.D131del	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	131	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.D131delD(2)|p.D130A(1)|p.P129P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		AAGGGAGCCCCGATGACGTGGAG	0.527														1950	0.389377	0.264	0.4063	5008	,	,		16040	0.5933		0.2932	False		,,,				2504	0.4356				GBM(155;1668 1920 5945 42733 48121)												4	Deletion - In frame(2)|Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)|upper_aerodigestive_tract(1)|large_intestine(1)							,,	1147,3105		167,813,1146					,,	2.0	0.0		dbSNP_134	106	2654,5494		452,1750,1872	no	coding,coding,coding	SIRPA	NM_080792.2,NM_001040023.1,NM_001040022.1	,,	619,2563,3018	A1A1,A1R,RR		32.5724,26.9755,30.6532	,,	,,		3801,8599				SO:0001651	inframe_deletion	140885			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.387_389delCGA	20.37:g.1896052_1896054delCGA	ENSP00000351621:p.Asp131del	Somatic		WXS	SOLID	Phase_I	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	In_Frame_Del	DEL	ENST00000358771.4	37	CCDS13022.1																																																																																				0.527	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2		NM_080792	
SNX15	29907	hgsc.bcm.edu	37	11	64799918	64799918	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr11:64799918C>T	ENST00000377244.3	+	3	281	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	RP11-399J13.3_ENST00000301886.3_3'UTR|SNX15_ENST00000352068.5_Missense_Mutation_p.R51W	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	51	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						GGTCTGGAAGCGGTACAGCGA	0.652																																					Esophageal Squamous(56;269 1304 3324 8253)												0													79.0	71.0	74.0					11																	64799918		2201	4297	6498	SO:0001583	missense	29907			AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"""Sorting nexins"""	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.151C>T	11.37:g.64799918C>T	ENSP00000366452:p.Arg51Trp	Somatic		WXS	SOLID	Phase_I	E5KQS6|Q9NRS5	Missense_Mutation	SNP	ENST00000377244.3	37	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.927926	0.73327	.	.	ENSG00000110025	ENST00000377244;ENST00000534637;ENST00000524831;ENST00000352068	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.48	5.48	0.80851	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.85902	0.5805	H	0.96547	3.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.991;1.0;0.984	D	0.90218	0.4269	10	0.87932	D	0	-2.8199	16.8521	0.85996	0.0:1.0:0.0:0.0	.	51;51;51	E5KQS5;E5KQS6;Q9NRS6	.;.;SNX15_HUMAN	W	51;47;39;51	ENSP00000366452:R51W;ENSP00000437277:R47W;ENSP00000431690:R39W;ENSP00000316410:R51W	ENSP00000316410:R51W	R	+	1	2	SNX15	64556494	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	3.123000	0.50453	2.563000	0.86464	0.655000	0.94253	CGG		0.652	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			
SON	6651	hgsc.bcm.edu;ucsc.edu	37	21	34929511	34929511	+	Silent	SNP	T	T	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr21:34929511T>C	ENST00000356577.4	+	4	6685	c.6210T>C	c.(6208-6210)tgT>tgC	p.C2070C	SON_ENST00000300278.4_Silent_p.C2070C|SON_ENST00000381692.2_Silent_p.C98C|SON_ENST00000381679.4_Silent_p.C2070C|SON_ENST00000290239.6_Silent_p.C2070C	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2070					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTGCCATGTGTGCTAAGGCTG	0.408																																																	0													74.0	66.0	68.0					21																	34929511		2203	4300	6503	SO:0001819	synonymous_variant	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6210T>C	21.37:g.34929511T>C		Somatic		WXS	SOLID	Phase_I	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	T	5.495	0.276314	0.10403	.	.	ENSG00000159140	ENST00000436227	.	.	.	5.41	4.26	0.50523	.	.	.	.	.	T	0.61400	0.2344	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59568	-0.7430	4	.	.	.	.	10.959	0.47374	0.0:0.0732:0.0:0.9268	.	.	.	.	A	1065	.	.	V	+	2	0	SON	33851381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.508000	0.53378	2.188000	0.69820	0.533000	0.62120	GTG		0.408	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2		NM_138927	
SPAG5	10615	hgsc.bcm.edu;ucsc.edu	37	17	26911463	26911463	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr17:26911463C>G	ENST00000321765.5	-	12	2529	c.2197G>C	c.(2197-2199)Gac>Cac	p.D733H		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	733	Gln-rich.|Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					AGCTGGCTGTCCATGTTGGCC	0.502																																																	0													179.0	168.0	172.0					17																	26911463		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2197G>C	17.37:g.26911463C>G	ENSP00000323300:p.Asp733His	Somatic		WXS	SOLID	Phase_I	O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689441	0.48097	.	.	ENSG00000076382	ENST00000321765;ENST00000536674	.	.	.	6.02	5.04	0.67666	.	0.283413	0.30510	N	0.009472	T	0.25791	0.0628	N	0.08118	0	0.24779	N	0.99282	P	0.46220	0.874	P	0.45610	0.487	T	0.11591	-1.0581	9	0.62326	D	0.03	-3.8262	13.1086	0.59261	0.0:0.8197:0.1803:0.0	.	733	Q96R06	SPAG5_HUMAN	H	733;230	.	ENSP00000323300:D733H	D	-	1	0	SPAG5	23935590	0.317000	0.24589	0.891000	0.34965	0.562000	0.35680	1.644000	0.37228	1.516000	0.48900	0.650000	0.86243	GAC		0.502	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2		NM_006461	
SPTAN1	6709	hgsc.bcm.edu	37	9	131343279	131343279	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr9:131343279G>T	ENST00000372731.4	+	11	1512	c.1402G>T	c.(1402-1404)Gac>Tac	p.D468Y	SPTAN1_ENST00000372739.3_Missense_Mutation_p.D468Y|SPTAN1_ENST00000358161.5_Missense_Mutation_p.D468Y	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	468					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCAGTGCATGGACCTGCAGCT	0.597																																					NSCLC(120;833 1744 2558 35612 37579)												0													93.0	82.0	86.0					9																	131343279		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1402G>T	9.37:g.131343279G>T	ENSP00000361816:p.Asp468Tyr	Somatic		WXS	SOLID	Phase_I	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.795820	0.90453	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.43294	0.95;0.95;0.95	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.70640	0.3247	M	0.87758	2.905	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;0.986;0.984	D;D;D;P;P	0.87578	0.981;0.998;0.994;0.901;0.861	T	0.75611	-0.3258	10	0.66056	D	0.02	.	18.3195	0.90232	0.0:0.0:1.0:0.0	.	468;468;468;468;468	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	Y	468	ENSP00000350882:D468Y;ENSP00000361816:D468Y;ENSP00000361824:D468Y	ENSP00000350882:D468Y	D	+	1	0	SPTAN1	130383100	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.452000	0.97615	2.573000	0.86826	0.455000	0.32223	GAC		0.597	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127	
THBS1	7057	hgsc.bcm.edu	37	15	39887564	39887564	+	Splice_Site	SNP	T	T	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr15:39887564T>C	ENST00000260356.5	+	22	3672	c.3507T>C	c.(3505-3507)gaT>gaC	p.D1169D	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1169	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		ATTTAACAGATCCCTAATCAT	0.318																																																	0													38.0	36.0	37.0					15																	39887564		2198	4294	6492	SO:0001630	splice_region_variant	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3506-1T>C	15.37:g.39887564T>C		Somatic		WXS	SOLID	Phase_I	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	CCDS32194.1																																																																																				0.318	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2		NM_003246	Silent
TANGO6	79613	hgsc.bcm.edu;ucsc.edu	37	16	68893912	68893912	+	Silent	SNP	A	A	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr16:68893912A>C	ENST00000261778.1	+	2	232	c.220A>C	c.(220-222)Aga>Cga	p.R74R		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	74						integral component of membrane (GO:0016021)											GAAACTCCTAAGAGATGAAAT	0.408																																																	0													87.0	83.0	84.0					16																	68893912		1871	4108	5979	SO:0001819	synonymous_variant	0				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.220A>C	16.37:g.68893912A>C		Somatic		WXS	SOLID	Phase_I	Q569F9|Q9H9K1	Silent	SNP	ENST00000261778.1	37	CCDS45516.1																																																																																				0.408	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2		XM_928235.2	
TOP2A	7153	hgsc.bcm.edu;ucsc.edu	37	17	38556798	38556798	+	Missense_Mutation	SNP	C	C	T	rs202231304		TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr17:38556798C>T	ENST00000423485.1	-	22	2940	c.2782G>A	c.(2782-2784)Gtc>Atc	p.V928I		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	928					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CATGTTCTGACGGGAAGCTCT	0.358													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18104	0.0		0.0	False		,,,				2504	0.0																0								T	ILE/VAL	2,3636		0,2,1817	75.0	64.0	68.0		2782	-3.1	0.9	17		68	1,8163		0,1,4081	yes	missense	TOP2A	NM_001067.3	29	0,3,5898	TT,TC,CC		0.0122,0.055,0.0254	benign	928/1532	38556798	3,11799	1819	4082	5901	SO:0001583	missense	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.2782G>A	17.37:g.38556798C>T	ENSP00000411532:p.Val928Ile	Somatic		WXS	SOLID	Phase_I	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	c	1.473	-0.559191	0.03967	5.5E-4	1.22E-4	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.22336	1.96	5.31	-3.07	0.05363	DNA topoisomerase, type IIA, subunit A/C-terminal (2);Arginine repressor, C-terminal (1);DNA topoisomerase, type IIA, central (1);	0.104194	0.64402	N	0.000004	T	0.07369	0.0186	N	0.03999	-0.3	0.29394	N	0.862428	B	0.09022	0.002	B	0.13407	0.009	T	0.36311	-0.9753	10	0.02654	T	1	.	14.9452	0.71026	0.0:0.7148:0.0:0.2852	.	928	P11388	TOP2A_HUMAN	I	928;1008;951;964	ENSP00000411532:V928I	ENSP00000269577:V1008I	V	-	1	0	TOP2A	35810324	0.088000	0.21588	0.912000	0.35992	0.952000	0.60782	0.532000	0.23067	-0.802000	0.04421	-2.243000	0.00286	GTC		0.358	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			
TRDN	10345	hgsc.bcm.edu	37	6	123539746	123539746	+	Nonstop_Mutation	SNP	T	T	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr6:123539746T>G	ENST00000398178.3	-	41	2211	c.2190A>C	c.(2188-2190)taA>taC	p.*730Y	TRDN_ENST00000334268.4_Nonstop_Mutation_p.*722Y	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	0					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		ACATGTGTGTTTACTGTCCTT	0.413																																																	0													129.0	117.0	121.0					6																	123539746		1884	4109	5993	SO:0001578	stop_lost	10345			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.2190A>C	6.37:g.123539746T>G		Somatic		WXS	SOLID	Phase_I	A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	T	1.528	-0.545121	0.04024	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	.	.	.	4.94	2.03	0.26663	.	.	.	.	.	.	.	.	.	.	.	0.34951	D	0.751269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5461	0.22406	0.0:0.6583:0.0:0.3417	.	.	.	.	Y	730;732;722	.	.	X	-	3	2	TRDN	123581445	0.035000	0.19736	0.177000	0.23020	0.097000	0.18754	-0.005000	0.12855	0.164000	0.19529	-0.242000	0.12053	TAA		0.413	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				
USP34	9736	hgsc.bcm.edu	37	2	61417437	61417437	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr2:61417437T>C	ENST00000398571.2	-	78	9918	c.9842A>G	c.(9841-9843)gAa>gGa	p.E3281G	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3281					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTTGGAAATTTCAACTCGGTT	0.413																																																	0													121.0	112.0	115.0					2																	61417437		1824	4098	5922	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9842A>G	2.37:g.61417437T>C	ENSP00000381577:p.Glu3281Gly	Somatic		WXS	SOLID	Phase_I	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	25.3|25.3	4.620405|4.620405	0.87460|0.87460	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269|ENST00000411912	T|.	0.64618|.	-0.11|.	5.87|5.87	4.72|4.72	0.59763|0.59763	.|.	0.137960|.	0.64402|.	D|.	0.000003|.	T|.	0.57873|.	0.2083|.	L|L	0.43152|0.43152	1.355|1.355	0.43930|0.43930	D|D	0.99658|0.99658	B|.	0.27498|.	0.18|.	B|.	0.22753|.	0.041|.	T|.	0.53837|.	-0.8382|.	10|.	0.72032|.	D|.	0.01|.	.|.	12.0411|12.0411	0.53454|0.53454	0.0:0.0673:0.0:0.9327|0.0:0.0673:0.0:0.9327	.|.	3281|.	Q70CQ2|.	UBP34_HUMAN|.	G|W	3129;3046;3281;159|957	ENSP00000381577:E3281G|.	ENSP00000263989:E3129G|.	E|X	-|-	2|3	0|0	USP34|USP34	61270941|61270941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.105000|7.105000	0.77031|0.77031	1.151000|1.151000	0.42436|0.42436	0.533000|0.533000	0.62120|0.62120	GAA|TGA		0.413	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			
USP40	55230	hgsc.bcm.edu	37	2	234429739	234429740	+	In_Frame_Ins	INS	-	-	TTC	rs141501074|rs59586144|rs397953463	byFrequency	TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr2:234429739_234429740insTTC	ENST00000427112.2	-	16	2254_2255	c.2219_2220insGAA	c.(2218-2220)aaa>aaGAAa	p.740_740K>KK	USP40_ENST00000251722.6_In_Frame_Ins_p.740_740K>KK|USP40_ENST00000450966.1_In_Frame_Ins_p.752_752K>KK			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	740					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TAGTGACCCATTTCTCTTCCTT	0.361														749	0.149561	0.1967	0.1326	5008	,	,		19239	0.0456		0.2425	False		,,,				2504	0.1094																0										676,2890		63,550,1170						-1.6	0.8		dbSNP_130	84	1690,6138		187,1316,2411	no	coding	USP40	NM_018218.2		250,1866,3581	A1A1,A1R,RR		21.5892,18.9568,20.7653				2366,9028				SO:0001652	inframe_insertion	55230			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2217_2219dupGAA	2.37:g.234429740_234429742dupTTC	ENSP00000387898:p.Lys740dup	Somatic		WXS	SOLID	Phase_I	Q6NX38|Q70EL0	In_Frame_Ins	INS	ENST00000427112.2	37	CCDS46547.1																																																																																				0.361	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1		XM_114294	
VHL	7428	hgsc.bcm.edu	37	3	10188235	10188236	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr3:10188235_10188236insG	ENST00000256474.2	+	2	1218_1219	c.378_379insG	c.(379-381)gggfs	p.G127fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	127	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L128fs*31(2)|p.D126fs*4(2)|p.H125fs*27(1)|p.D126fs*5(1)|p.D126fs*32(1)|p.D126fs*33(1)|p.G127fs*5(1)|p.L128fs*4(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GGACACACGATGGGCTTCTGGT	0.5		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	10	Deletion - Frameshift(8)|Insertion - Frameshift(2)	kidney(10)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.381dupG	3.37:g.10188238_10188238dupG	ENSP00000256474:p.Gly127fs	Somatic		WXS	SOLID	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.500	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WWC2	80014	hgsc.bcm.edu	37	4	184201996	184202001	+	In_Frame_Del	DEL	AAGAAG	AAGAAG	-			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	AAGAAG	AAGAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr4:184201996_184202001delAAGAAG	ENST00000403733.3	+	17	2829_2834	c.2630_2635delAAGAAG	c.(2629-2637)caagaagaa>caa	p.EE880del	WWC2_ENST00000513834.1_In_Frame_Del_p.EE831del|WWC2_ENST00000508747.1_5'Flank|WWC2_ENST00000448232.2_In_Frame_Del_p.EE880del|WWC2_ENST00000504005.1_In_Frame_Del_p.EE562del	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	880					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		gaattagcacaagaagaagaagaaga	0.422																																																	0																																										SO:0001651	inframe_deletion	80014			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.2630_2635delAAGAAG	4.37:g.184202002_184202007delAAGAAG	ENSP00000384222:p.Glu880_Glu881del	Somatic		WXS	SOLID	Phase_I	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	In_Frame_Del	DEL	ENST00000403733.3	37	CCDS34109.2																																																																																				0.422	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1		NM_024949	
ZAN	7455	hgsc.bcm.edu	37	7	100353014	100353016	+	RNA	DEL	ACA	ACA	-	rs377643276|rs201422303	byFrequency	TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	ACA	ACA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr7:100353014_100353016delACA	ENST00000348028.3	+	0	3455_3457				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AATTGCTTCTACAACAACGACTA	0.567														119	0.023762	0.0023	0.0447	5008	,	,		19715	0.0		0.0606	False		,,,				2504	0.0245																0									,	39,3617		1,37,1790					,	4.0	0.9			101	495,7413		13,469,3472	no	coding,coding	ZAN	NM_173059.1,NM_003386.1	,	14,506,5262	A1A1,A1R,RR		6.2595,1.0667,4.6178	,	,		534,11030						7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100353017_100353019delACA		Somatic		WXS	SOLID	Phase_I	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	In_Frame_Del	DEL	ENST00000348028.3	37																																																																																					0.567	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1		NM_003386	
ZNF433	163059	hgsc.bcm.edu	37	19	12126886	12126886	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr19:12126886A>C	ENST00000344980.6	-	4	966	c.796T>G	c.(796-798)Tcc>Gcc	p.S266A	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.S231A	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						AGGCATGTGGAACTATGGAAT	0.408																																																	0													87.0	87.0	87.0					19																	12126886		2202	4299	6501	SO:0001583	missense	163059			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.796T>G	19.37:g.12126886A>C	ENSP00000339767:p.Ser266Ala	Somatic		WXS	SOLID	Phase_I	Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	37	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	A	2.247	-0.372355	0.05034	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.07327	3.2;3.2	1.07	-1.65	0.08291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	L	0.42744	1.35	0.09310	N	1	B	0.12013	0.005	B	0.18561	0.022	T	0.46527	-0.9185	9	0.15952	T	0.53	.	2.4256	0.04459	0.3265:0.0:0.325:0.3485	.	266	Q8N7K0	ZN433_HUMAN	A	231;266	ENSP00000393416:S231A;ENSP00000339767:S266A	ENSP00000339767:S266A	S	-	1	0	ZNF433	11987886	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	-0.359000	0.07632	-0.546000	0.06216	0.254000	0.18369	TCC		0.408	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1		NM_152602	
ZNF572	137209	hgsc.bcm.edu	37	8	125987897	125987897	+	Silent	SNP	A	A	G			TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr8:125987897A>G	ENST00000319286.5	+	2	169	c.15A>G	c.(13-15)aaA>aaG	p.K5K		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGCAAGAAAAAAAACTGTTGG	0.388										HNSCC(60;0.17)																																							0													112.0	109.0	110.0					8																	125987897		2203	4300	6503	SO:0001819	synonymous_variant	137209			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.15A>G	8.37:g.125987897A>G		Somatic		WXS	SOLID	Phase_I	A1L4F1|Q8N1Q0	Silent	SNP	ENST00000319286.5	37	CCDS6354.1																																																																																				0.388	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1		NM_152412	
ZP3	7784	hgsc.bcm.edu	37	7	76071183	76071184	+	Frame_Shift_Ins	INS	-	-	G	rs375263236		TCGA-BP-4807-01A-01D-1373-10	TCGA-BP-4807-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0faca5d-acc8-4d08-828a-a38a6fa41b67	e319f0fd-0382-4169-9d41-5c159cb280da	g.chr7:76071183_76071184insG	ENST00000394857.3	+	8	1143_1144	c.1085_1086insG	c.(1084-1089)gtggggfs	p.VG362fs	ZP3_ENST00000467555.1_3'UTR|ZP3_ENST00000416245.1_Frame_Shift_Ins_p.VG186fs|ZP3_ENST00000336517.4_Frame_Shift_Ins_p.VG311fs	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	362					binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						GATGTCACCGTGGGGCCACTGA	0.545																																																	0																																										SO:0001589	frameshift_variant	7784			M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"""Zona pellucida glycoproteins"""	13189	protein-coding gene	gene with protein product		182889	"""zona pellucida glycoprotein 3A (sperm receptor)"""	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.1089dupG	7.37:g.76071187_76071187dupG	ENSP00000378326:p.Val362fs	Somatic		WXS	SOLID	Phase_I	Q06633|Q29RW0	Frame_Shift_Ins	INS	ENST00000394857.3	37	CCDS47618.1																																																																																				0.545	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			
