#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
VAV3	10451	broad.mit.edu	37	1	108417551	108417551	+	Missense_Mutation	SNP	T	T	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr1:108417551T>A	ENST00000370056.4	-	2	567	c.293A>T	c.(292-294)gAc>gTc	p.D98V	VAV3_ENST00000371846.4_Missense_Mutation_p.D33V|VAV3_ENST00000527011.1_Missense_Mutation_p.D98V	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	98	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ATCAAACAAGTCAAATGCCTC	0.353																																						ENST00000370056.4																			0				NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(292-294)gAc>gTc		vav 3 guanine nucleotide exchange factor							88.0	83.0	85.0					1																	108417551		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108417551T>A	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.293A>T	1.37:g.108417551T>A	ENSP00000359073:p.Asp98Val					VAV3_ENST00000371846.4_Missense_Mutation_p.D33V|VAV3_ENST00000527011.1_Missense_Mutation_p.D98V	p.D98V	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	2	567	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	98			CH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.293A>T	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.178063|4.178063	0.78564|0.78564	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000490388	T;T;T|.	0.43294|.	0.95;0.95;0.95|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Calponin homology domain (5);|.	0.216928|.	0.46758|.	D|.	0.000270|.	D|D	0.84597|0.84597	0.5507|0.5507	H|H	0.94306|0.94306	3.52|3.52	0.80722|0.80722	D|D	1|1	P;D;D|.	0.89917|.	0.707;0.988;1.0|.	D;D;D|.	0.91635|.	0.962;0.982;0.999|.	D|D	0.88953|0.88953	0.3388|0.3388	10|5	0.31617|.	T|.	0.26|.	.|.	15.4678|15.4678	0.75416|0.75416	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	98;98;98|.	B7ZLR1;E9PQ97;Q9UKW4|.	.;.;VAV3_HUMAN|.	V|S	98;98;33|93	ENSP00000359073:D98V;ENSP00000432540:D98V;ENSP00000360912:D33V|.	ENSP00000359073:D98V|.	D|T	-|-	2|1	0|0	VAV3|VAV3	108219074|108219074	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.508000|7.508000	0.81686|0.81686	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	GAC|ACT		0.353	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		20	30	20	30	---	---	---	---
PLEKHH2	130271	broad.mit.edu	37	2	43926933	43926933	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr2:43926933C>T	ENST00000282406.4	+	8	946	c.836C>T	c.(835-837)tCt>tTt	p.S279F		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	279					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCCCAGAATTCTGGGGCTCCT	0.512																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(835-837)tCt>tTt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							72.0	75.0	74.0					2																	43926933		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43926933C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.836C>T	2.37:g.43926933C>T	ENSP00000282406:p.Ser279Phe						p.S279F	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			8	946	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	279					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.836C>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524631	0.44969	.	.	ENSG00000152527	ENST00000282406	T	0.74209	-0.82	5.84	4.96	0.65561	.	0.380726	0.28659	N	0.014561	T	0.73202	0.3557	N	0.19112	0.55	0.32855	D	0.507198	P;D	0.65815	0.578;0.995	B;P	0.58172	0.181;0.834	T	0.81102	-0.1085	10	0.72032	D	0.01	-7.4682	13.4234	0.61011	0.0:0.9272:0.0:0.0728	.	279;279	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	F	279	ENSP00000282406:S279F	ENSP00000282406:S279F	S	+	2	0	PLEKHH2	43780437	0.997000	0.39634	0.150000	0.22450	0.607000	0.37147	3.320000	0.51991	1.477000	0.48234	-0.150000	0.13652	TCT		0.512	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		15	56	15	56	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125192103	125192103	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr2:125192103A>G	ENST00000431078.1	+	5	936	c.572A>G	c.(571-573)tAc>tGc	p.Y191C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	191	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCACTTCTGTACAGGTTCAAT	0.448																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(571-573)tAc>tGc		contactin associated protein-like 5							133.0	123.0	126.0					2																	125192103		1956	4161	6117	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125192103A>G	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.572A>G	2.37:g.125192103A>G	ENSP00000399013:p.Tyr191Cys						p.Y191C	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	5	936	+			191			Laminin G-like 1.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.572A>G	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	18.90	3.721776	0.68959	.	.	ENSG00000155052	ENST00000431078	T	0.80824	-1.42	5.48	5.48	0.80851	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.43416	D	0.000561	D	0.90683	0.7077	M	0.92169	3.28	0.58432	D	0.999995	D	0.71674	0.998	P	0.60173	0.87	D	0.92933	0.6365	10	0.87932	D	0	.	14.7735	0.69699	1.0:0.0:0.0:0.0	.	191	Q8WYK1	CNTP5_HUMAN	C	191	ENSP00000399013:Y191C	ENSP00000399013:Y191C	Y	+	2	0	CNTNAP5	124908573	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	7.163000	0.77524	2.084000	0.62774	0.533000	0.62120	TAC		0.448	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			13	63	13	63	---	---	---	---
RAPGEF4	11069	broad.mit.edu	37	2	173832003	173832003	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr2:173832003C>T	ENST00000397081.3	+	10	978	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	RAPGEF4_ENST00000264111.6_Missense_Mutation_p.H278Y|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.H108Y|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.H135Y|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.H126Y|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.H279Y|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.H126Y|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.H59Y	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	279	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CCAGGAGCACCATTTCCAAGA	0.493																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(832-834)Cat>Tat		Rap guanine nucleotide exchange factor (GEF) 4							42.0	44.0	44.0					2																	173832003		2056	4219	6275	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173832003C>T	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.835C>T	2.37:g.173832003C>T	ENSP00000380271:p.His279Tyr					RAPGEF4_ENST00000540783.1_Missense_Mutation_p.H126Y|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.H135Y|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.H59Y|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.H279Y|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.H279Y|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.H126Y|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.H108Y	p.H278Y			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		10	1019	+			279			DEP.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.832C>T	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	C	4.355	0.065363	0.08388	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	T;T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05	5.31	3.5	0.40072	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.311884	0.40302	N	0.001133	T	0.10551	0.0258	N	0.25144	0.715	0.37428	D	0.913924	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.001	T	0.14811	-1.0459	10	0.02654	T	1	.	8.3653	0.32382	0.0:0.7657:0.0:0.2343	.	106;108;135;279;279	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	Y	278;279;279;135;108;126;126;106;59	ENSP00000264111:H278Y;ENSP00000380271:H279Y;ENSP00000387104:H279Y;ENSP00000380276:H135Y;ENSP00000440135:H108Y;ENSP00000440250:H126Y;ENSP00000437384:H126Y;ENSP00000438011:H59Y	ENSP00000264111:H278Y	H	+	1	0	RAPGEF4	173540249	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.233000	0.32648	1.235000	0.43724	0.561000	0.74099	CAT		0.493	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		7	13	7	13	---	---	---	---
TMF1	7110	broad.mit.edu	37	3	69087802	69087802	+	Silent	SNP	A	A	C			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr3:69087802A>C	ENST00000398559.2	-	8	2280	c.2064T>G	c.(2062-2064)cgT>cgG	p.R688R	CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Silent_p.R691R			P82094	TMF1_HUMAN	TATA element modulatory factor 1	688					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CTTTCATTTCACGGCTCAGAG	0.403																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(2071-2073)cgT>cgG		TATA element modulatory factor 1							137.0	124.0	128.0					3																	69087802		1885	4114	5999	SO:0001819	synonymous_variant	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69087802A>C		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2064T>G	3.37:g.69087802A>C						CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000398559.2_Silent_p.R688R|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA	p.R691R	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	8	2319	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	688					B7ZLJ2|Q17R87|Q59GK0	Silent	SNP	ENST00000398559.2	37	c.2073T>G	CCDS43105.1																																																																																				0.403	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		52	64	52	64	---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73657756	73657756	+	Missense_Mutation	SNP	G	G	A	rs144715916		TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr3:73657756G>A	ENST00000263666.4	-	2	917	c.803C>T	c.(802-804)cCg>cTg	p.P268L	PDZRN3_ENST00000308537.4_Missense_Mutation_p.P268L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	268	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TACCACACTCGGCCGGCCACC	0.473																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(802-804)cCg>cTg		PDZ domain containing ring finger 3		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	52.0	53.0	52.0		803	5.4	1.0	3	dbSNP_134	52	0,8600		0,0,4300	no	missense	PDZRN3	NM_015009.1	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	268/1067	73657756	1,13005	2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73657756G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.803C>T	3.37:g.73657756G>A	ENSP00000263666:p.Pro268Leu					PDZRN3_ENST00000308537.4_Missense_Mutation_p.P268L	p.P268L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	2	917	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	268			PDZ 1.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.803C>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815456	0.70912	2.27E-4	0.0	ENSG00000121440	ENST00000263666;ENST00000416926;ENST00000308537	T;T	0.27256	1.68;1.68	5.42	5.42	0.78866	PDZ/DHR/GLGF (4);	1.000930	0.08059	N	0.997869	T	0.42404	0.1201	L	0.42487	1.325	0.80722	D	1	D	0.76494	0.999	P	0.61477	0.889	T	0.22591	-1.0212	10	0.08179	T	0.78	.	19.2259	0.93817	0.0:0.0:1.0:0.0	.	268	Q9UPQ7	PZRN3_HUMAN	L	268	ENSP00000263666:P268L;ENSP00000308831:P268L	ENSP00000263666:P268L	P	-	2	0	PDZRN3	73740446	1.000000	0.71417	0.952000	0.39060	0.916000	0.54674	8.131000	0.89601	2.508000	0.84585	0.655000	0.94253	CCG		0.473	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		6	12	6	12	---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114069639	114069639	+	Missense_Mutation	SNP	C	C	A	rs532683480		TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr3:114069639C>A	ENST00000474710.1	-	4	1464	c.1286G>T	c.(1285-1287)gGt>gTt	p.G429V	ZBTB20_ENST00000481632.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.G356V|ZBTB20_ENST00000462705.1_Missense_Mutation_p.G356V|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000357258.3_Missense_Mutation_p.G356V|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.G356V|ZBTB20-AS1_ENST00000475939.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	429						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGAGGAAGCACCTGTTTCTAG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		20791	0.0		0.0	False		,,,				2504	0.001				NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1066-1068)gGt>gTt		zinc finger and BTB domain containing 20							69.0	69.0	69.0					3																	114069639		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069639C>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1286G>T	3.37:g.114069639C>A	ENSP00000419153:p.Gly429Val					ZBTB20_ENST00000357258.3_Missense_Mutation_p.G356V|ZBTB20_ENST00000481632.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000474710.1_Missense_Mutation_p.G429V|ZBTB20_ENST00000471418.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.G356V	p.G356V	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1888	-			429					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1067G>T	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376050	0.24857	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.09255	3.01;3.01;3.01;3.01;3.0;3.01;3.01	5.43	4.36	0.52297	.	0.178314	0.48767	D	0.000171	T	0.07007	0.0178	N	0.14661	0.345	0.52501	D	0.999951	B	0.17667	0.023	B	0.17979	0.02	T	0.16188	-1.0411	10	0.72032	D	0.01	.	9.768	0.40572	0.0:0.8405:0.0:0.1595	.	429	Q9HC78	ZBT20_HUMAN	V	356;356;356;356;429;356;356	ENSP00000420324:G356V;ENSP00000377375:G356V;ENSP00000418092:G356V;ENSP00000419902:G356V;ENSP00000419153:G429V;ENSP00000349803:G356V;ENSP00000417307:G356V	ENSP00000349803:G356V	G	-	2	0	ZBTB20	115552329	1.000000	0.71417	0.981000	0.43875	0.909000	0.53808	2.945000	0.49043	2.560000	0.86352	0.557000	0.71058	GGT		0.607	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		31	60	31	60	---	---	---	---
ZNF518B	85460	broad.mit.edu	37	4	10447287	10447287	+	Silent	SNP	G	G	C			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr4:10447287G>C	ENST00000326756.3	-	3	1104	c.666C>G	c.(664-666)gtC>gtG	p.V222V		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	222					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CAACAGCTTTGACTGGCCGTT	0.413																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(664-666)gtC>gtG		zinc finger protein 518B							191.0	197.0	195.0					4																	10447287		2203	4300	6503	SO:0001819	synonymous_variant	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10447287G>C	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.666C>G	4.37:g.10447287G>C							p.V222V	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	1104	-			222					Q96LN8	Silent	SNP	ENST00000326756.3	37	c.666C>G	CCDS33960.1																																																																																				0.413	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		9	261	9	261	---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	146080619	146080619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr5:146080619G>A	ENST00000394413.3	-	2	727	c.157C>T	c.(157-159)Cga>Tga	p.R53*	PPP2R2B_ENST00000453001.1_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000394414.1_Nonsense_Mutation_p.R119*|PPP2R2B_ENST00000394410.2_Nonsense_Mutation_p.R42*|PPP2R2B_ENST00000508545.2_Nonsense_Mutation_p.R42*|PPP2R2B_ENST00000336640.6_Nonsense_Mutation_p.R56*|PPP2R2B_ENST00000394411.4_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000394409.3_Nonsense_Mutation_p.R111*|PPP2R2B_ENST00000504198.1_Nonsense_Mutation_p.R59*			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	53					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTGCTCTCGTTGAAATATT	0.453																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(157-159)Cga>Tga		protein phosphatase 2, regulatory subunit B, beta							308.0	316.0	314.0					5																	146080619		2203	4300	6503	SO:0001587	stop_gained	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146080619G>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.157C>T	5.37:g.146080619G>A	ENSP00000377935:p.Arg53*					PPP2R2B_ENST00000394414.1_Nonsense_Mutation_p.R119*|PPP2R2B_ENST00000508545.2_Nonsense_Mutation_p.R42*|PPP2R2B_ENST00000504198.1_Nonsense_Mutation_p.R59*|PPP2R2B_ENST00000394410.2_Nonsense_Mutation_p.R42*|PPP2R2B_ENST00000356826.3_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000394411.4_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000394409.3_Nonsense_Mutation_p.R111*|PPP2R2B_ENST00000453001.1_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000336640.6_Nonsense_Mutation_p.R56*|PPP2R2B_ENST00000530902.1_5'UTR	p.R53*			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	727	-			53					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Nonsense_Mutation	SNP	ENST00000394413.3	37	c.157C>T	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	G	36	5.622324	0.96660	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409;ENST00000508267	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8559	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	53;42;119;53;53;53;42;56;59;111;33	.	ENSP00000336591:R56X	R	-	1	2	AC011357.1	146060812	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.002000	0.57053	2.885000	0.99019	0.655000	0.94253	CGA		0.453	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		97	313	97	313	---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156590429	156590429	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr5:156590429C>T	ENST00000302938.4	-	2	942	c.847G>A	c.(847-849)Gca>Aca	p.A283T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	283	Ala-rich.					nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGCTATTGCCACATCTGTT	0.582																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(847-849)Gca>Aca		family with sequence similarity 71, member B							126.0	104.0	111.0					5																	156590429		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590429C>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.847G>A	5.37:g.156590429C>T	ENSP00000305596:p.Ala283Thr						p.A283T	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	942	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	283			Ala-rich.		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.847G>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539642	0.27563	.	.	ENSG00000170613	ENST00000302938	T	0.04809	3.55	3.7	1.86	0.25419	.	0.829219	0.10160	N	0.708438	T	0.04770	0.0129	L	0.45137	1.4	0.09310	N	1	B	0.29909	0.261	B	0.22880	0.042	T	0.38373	-0.9664	10	0.48119	T	0.1	-2.3928	6.3492	0.21367	0.0:0.7665:0.0:0.2335	.	283	Q8TC56	FA71B_HUMAN	T	283	ENSP00000305596:A283T	ENSP00000305596:A283T	A	-	1	0	FAM71B	156523007	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	-0.131000	0.10482	0.506000	0.28125	0.467000	0.42956	GCA		0.582	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		24	97	24	97	---	---	---	---
PTK7	5754	broad.mit.edu	37	6	43112201	43112201	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr6:43112201A>G	ENST00000230419.4	+	15	2485	c.2264A>G	c.(2263-2265)cAg>cGg	p.Q755R	PTK7_ENST00000352931.2_Missense_Mutation_p.Q699R|PTK7_ENST00000349241.2_Missense_Mutation_p.Q625R|PTK7_ENST00000345201.2_Missense_Mutation_p.Q715R|PTK7_ENST00000481273.1_Missense_Mutation_p.Q763R	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	755				Q -> R (in Ref. 4; BAH12463). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGGCCTTTGCAGAACGGGCAG	0.592																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2263-2265)cAg>cGg		protein tyrosine kinase 7							89.0	86.0	87.0					6																	43112201		2203	4300	6503	SO:0001583	missense	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43112201A>G	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2264A>G	6.37:g.43112201A>G	ENSP00000230419:p.Gln755Arg					PTK7_ENST00000349241.2_Missense_Mutation_p.Q625R|PTK7_ENST00000481273.1_Missense_Mutation_p.Q763R|PTK7_ENST00000345201.2_Missense_Mutation_p.Q715R|PTK7_ENST00000352931.2_Missense_Mutation_p.Q699R	p.Q755R	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		15	2485	+			755					A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.2264A>G	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	A	19.33	3.806054	0.70682	.	.	ENSG00000112655	ENST00000230419;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000473339	T;T;T;T;T;T	0.77358	-0.68;-0.77;-0.62;-0.69;-0.7;-1.09	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	M	0.63428	1.95	0.58432	D	0.999997	P;B;D;B;D	0.61697	0.893;0.001;0.967;0.001;0.99	P;B;P;B;P	0.58577	0.482;0.012;0.595;0.007;0.841	T	0.78013	-0.2370	10	0.30854	T	0.27	.	15.8419	0.78852	1.0:0.0:0.0:0.0	.	763;625;715;699;755	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308	.;.;.;.;PTK7_HUMAN	R	755;625;699;715;763;23	ENSP00000230419:Q755R;ENSP00000325462:Q625R;ENSP00000326029:Q699R;ENSP00000325992:Q715R;ENSP00000418754:Q763R;ENSP00000420186:Q23R	ENSP00000230418:Q755R	Q	+	2	0	PTK7	43220179	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.703000	0.74633	2.137000	0.66172	0.533000	0.62120	CAG		0.592	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			11	62	11	62	---	---	---	---
NT5E	4907	broad.mit.edu	37	6	86195049	86195049	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr6:86195049T>G	ENST00000257770.3	+	4	897	c.848T>G	c.(847-849)tTt>tGt	p.F283C	NT5E_ENST00000369651.3_Missense_Mutation_p.F283C	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	283					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	GCCTATGCTTTTGGCAAATAC	0.468																																					Melanoma(140;797 1765 2035 2752 18208)	ENST00000257770.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(847-849)tTt>tGt		5'-nucleotidase, ecto (CD73)	Pentoxifylline(DB00806)						143.0	123.0	129.0					6																	86195049		2203	4300	6503	SO:0001583	missense	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86195049T>G	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.848T>G	6.37:g.86195049T>G	ENSP00000257770:p.Phe283Cys					NT5E_ENST00000369651.3_Missense_Mutation_p.F283C	p.F283C	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	4	897	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	283					B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	c.848T>G	CCDS5002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.03|19.03	3.747061|3.747061	0.69418|0.69418	.|.	.|.	ENSG00000135318|ENSG00000135318	ENST00000369647;ENST00000257770;ENST00000369651|ENST00000416334	T;T|.	0.55930|.	0.49;0.49|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.091610|.	0.85682|.	D|.	0.000000|.	T|T	0.69433|0.69433	0.3110|0.3110	M|M	0.83953|0.83953	2.67|2.67	0.51233|0.51233	D|D	0.999915|0.999915	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.74023|.	0.976;0.982|.	T|T	0.74090|0.74090	-0.3777|-0.3777	10|5	0.87932|.	D|.	0|.	-26.6486|-26.6486	11.6065|11.6065	0.51035|0.51035	0.1409:0.0:0.0:0.8591|0.1409:0.0:0.0:0.8591	.|.	283;283|.	B3KQI8;P21589|.	.;5NTD_HUMAN|.	C|V	59;283;283|48	ENSP00000257770:F283C;ENSP00000358665:F283C|.	ENSP00000257770:F283C|.	F|L	+|+	2|1	0|2	NT5E|NT5E	86251768|86251768	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.755000|4.755000	0.62198|0.62198	2.138000|2.138000	0.66242|0.66242	0.379000|0.379000	0.24179|0.24179	TTT|TTG		0.468	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			43	45	43	45	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4119141	4119141	+	Silent	SNP	T	T	G			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr7:4119141T>G	ENST00000404826.2	+	22	3388	c.3249T>G	c.(3247-3249)ccT>ccG	p.P1083P	SDK1_ENST00000389531.3_Silent_p.P1083P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1083	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACATCAGCCCTCGCTCCGCCA	0.567																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3247-3249)ccT>ccG		sidekick cell adhesion molecule 1							176.0	161.0	166.0					7																	4119141		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4119141T>G	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3249T>G	7.37:g.4119141T>G						SDK1_ENST00000389531.3_Silent_p.P1083P	p.P1083P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	22	3388	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1083			Fibronectin type-III 5.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.3249T>G	CCDS34590.1																																																																																				0.567	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		27	123	27	123	---	---	---	---
BNIP3L	665	broad.mit.edu	37	8	26237669	26237669	+	5'Flank	SNP	A	A	G			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr8:26237669A>G	ENST00000380629.2	+	0	0				SDAD1P1_ENST00000519902.1_RNA	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like						defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		TCAAAGTTCTAGCAGACATCA	0.443																																						ENST00000519902.1																			0																																																	SO:0001631	upstream_gene_variant	157489							g.chr8:26237669A>G	AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433		8.37:g.26237669A>G	Exception_encountered													0	2279	-								B0AZS9|Q5JW63|Q8NF87	RNA	SNP	ENST00000380629.2	37		CCDS6050.1																																																																																				0.443	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216895.1	NM_004331		9	50	9	50	---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6013360	6013361	+	Nonsense_Mutation	DNP	GA	GA	AT	rs553843673		TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr9:6013360_6013361GA>AT	ENST00000259569.5	-	1	2257_2258	c.2247_2248TC>AT	c.(2245-2250)taTCtt>taATtt	p.749_750YL>*F	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	749					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L750F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTGTGCAAGATACTCTGGGC	0.411																																						ENST00000259569.5																			1	Substitution - Missense(1)	p.L750F(1)|	skin(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2248-2250)Ctt>Ttt|c.(2245-2247)taT>taA		RAN binding protein 6																																				SO:0001587	stop_gained	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6013360G>A|g.chr9:6013361A>T	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2247_2248delinsAT	9.37:g.6013360_6013361delinsAT	ENSP00000259569:p.Y749_L750delins*F						p.L750F|p.Y749*	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2258|2257	-		Acute lymphoblastic leukemia(23;0.158)	750|749					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000259569.5	37	c.2248C>T|c.2247T>A	CCDS6467.1																																																																																				0.411	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		11	86|87	11	86	---	---	---	---
IPPK	64768	broad.mit.edu	37	9	95378253	95378253	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr9:95378253T>C	ENST00000287996.3	-	13	1613	c.1337A>G	c.(1336-1338)gAg>gGg	p.E446G	IPPK_ENST00000375522.1_Missense_Mutation_p.E118G|IPPK_ENST00000486841.1_5'UTR|CENPP_ENST00000375587.3_3'UTR	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	446					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GGGAATGCTCTCGTAGGGCTT	0.498																																						ENST00000287996.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						c.(1336-1338)gAg>gGg		inositol 1,3,4,5,6-pentakisphosphate 2-kinase							154.0	120.0	131.0					9																	95378253		2203	4300	6503	SO:0001583	missense	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95378253T>C	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.1337A>G	9.37:g.95378253T>C	ENSP00000287996:p.Glu446Gly					CENPP_ENST00000375587.3_3'UTR|IPPK_ENST00000375522.1_Missense_Mutation_p.E118G|IPPK_ENST00000486841.1_5'UTR	p.E446G	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN			13	1613	-			446					Q5T9F7|Q9H7V8	Missense_Mutation	SNP	ENST00000287996.3	37	c.1337A>G	CCDS6699.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.255206	0.80135	.	.	ENSG00000127080	ENST00000287996;ENST00000375522	T;T	0.32753	1.44;1.44	5.74	4.61	0.57282	.	0.049411	0.85682	D	0.000000	T	0.41743	0.1172	L	0.38531	1.155	0.53005	D	0.999968	D;D	0.64830	0.994;0.992	D;P	0.64595	0.927;0.874	T	0.20273	-1.0280	10	0.49607	T	0.09	-38.5208	11.7973	0.52108	0.0:0.0683:0.0:0.9317	.	446;145	Q9H8X2;B3KVX7	IPPK_HUMAN;.	G	446;118	ENSP00000287996:E446G;ENSP00000364672:E118G	ENSP00000287996:E446G	E	-	2	0	IPPK	94418074	1.000000	0.71417	0.986000	0.45419	0.865000	0.49528	6.570000	0.73996	1.128000	0.42052	0.533000	0.62120	GAG		0.498	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		6	39	6	39	---	---	---	---
BRINP1	1620	broad.mit.edu	37	9	121930373	121930373	+	Silent	SNP	G	G	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr9:121930373G>A	ENST00000265922.3	-	8	1736	c.1275C>T	c.(1273-1275)ccC>ccT	p.P425P	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	425					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CGCAGGGGATGGGGCGCTGGC	0.607																																						ENST00000265922.3																			0											c.(1273-1275)ccC>ccT		bone morphogenetic protein/retinoic acid inducible neural-specific 1							23.0	23.0	23.0					9																	121930373		2203	4300	6503	SO:0001819	synonymous_variant	1620							g.chr9:121930373G>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1275C>T	9.37:g.121930373G>A						BRINP1_ENST00000482797.1_Intron	p.P425P	NM_014618.2	NP_055433.2					8	1736	-			425					Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.1275C>T	CCDS6822.1																																																																																				0.607	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		7	13	7	13	---	---	---	---
ANGPTL2	23452	broad.mit.edu	37	9	129870588	129870588	+	Silent	SNP	G	G	T			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr9:129870588G>T	ENST00000373425.3	-	2	1040	c.423C>A	c.(421-423)ctC>ctA	p.L141L	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000394022.3_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	141					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TCTCGTGCAGGAGCTGCATGT	0.617																																						ENST00000373425.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(421-423)ctC>ctA		angiopoietin-like 2							56.0	50.0	52.0					9																	129870588		2203	4300	6503	SO:0001819	synonymous_variant	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129870588G>T	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.423C>A	9.37:g.129870588G>T						RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000394022.3_Intron	p.L141L	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN			2	1040	-			141					Q5JT58|Q8NCH7	Silent	SNP	ENST00000373425.3	37	c.423C>A	CCDS6868.1																																																																																				0.617	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		28	28	28	28	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30306821	30306821	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr10:30306821C>G	ENST00000375377.1	-	4	4172	c.4071G>C	c.(4069-4071)gaG>gaC	p.E1357D		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1357					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ATCACACCCTCTCCACTCTGC	0.408																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(4069-4071)gaG>gaC		KIAA1462							68.0	61.0	63.0					10																	30306821		1860	4097	5957	SO:0001583	missense	57608							g.chr10:30306821C>G	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.4071G>C	10.37:g.30306821C>G	ENSP00000364526:p.Glu1357Asp						p.E1357D	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			4	4172	-			1357					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.4071G>C	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382533	0.61845	.	.	ENSG00000165757	ENST00000375377	T	0.24723	1.84	5.84	3.83	0.44106	.	0.120606	0.53938	D	0.000046	T	0.41994	0.1183	M	0.61703	1.905	0.42825	D	0.994	D	0.89917	1.0	D	0.91635	0.999	T	0.32375	-0.9909	10	0.87932	D	0	-28.6799	4.7389	0.13003	0.0:0.3315:0.0:0.6685	.	1357	Q9P266	K1462_HUMAN	D	1357	ENSP00000364526:E1357D	ENSP00000364526:E1357D	E	-	3	2	KIAA1462	30346827	1.000000	0.71417	0.978000	0.43139	0.430000	0.31655	2.110000	0.41873	0.715000	0.32103	0.655000	0.94253	GAG		0.408	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		11	32	11	32	---	---	---	---
SORBS1	10580	broad.mit.edu	37	10	97074853	97074853	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr10:97074853G>C	ENST00000361941.3	-	31	3868	c.3842C>G	c.(3841-3843)aCt>aGt	p.T1281S	SORBS1_ENST00000393949.1_Missense_Mutation_p.T993S|SORBS1_ENST00000353505.5_Missense_Mutation_p.T894S|SORBS1_ENST00000371249.2_Missense_Mutation_p.T805S|SORBS1_ENST00000354106.3_Missense_Mutation_p.T993S|SORBS1_ENST00000371247.2_Missense_Mutation_p.T1281S|SORBS1_ENST00000607232.1_Missense_Mutation_p.T1283S|SORBS1_ENST00000371241.1_Missense_Mutation_p.T673S|SORBS1_ENST00000371246.2_Missense_Mutation_p.T1140S|SORBS1_ENST00000371245.3_Missense_Mutation_p.T894S|SORBS1_ENST00000277982.5_Missense_Mutation_p.T1140S|SORBS1_ENST00000306402.6_Missense_Mutation_p.T770S|SORBS1_ENST00000371227.4_Missense_Mutation_p.T1255S|SORBS1_ENST00000347291.4_Missense_Mutation_p.T835S|SORBS1_ENST00000371239.1_Missense_Mutation_p.T800S	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GCCTGGAAAAGTACCAAACTG	0.393																																						ENST00000371247.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3841-3843)aCt>aGt		sorbin and SH3 domain containing 1							87.0	87.0	87.0					10																	97074853		2202	4300	6502	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97074853G>C	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3842C>G	10.37:g.97074853G>C	ENSP00000355136:p.Thr1281Ser					SORBS1_ENST00000361941.3_Missense_Mutation_p.T1281S|SORBS1_ENST00000371239.1_Missense_Mutation_p.T800S|SORBS1_ENST00000607232.1_Missense_Mutation_p.T1283S|SORBS1_ENST00000353505.5_Missense_Mutation_p.T894S|SORBS1_ENST00000277982.5_Missense_Mutation_p.T1140S|SORBS1_ENST00000371241.1_Missense_Mutation_p.T673S|SORBS1_ENST00000371246.2_Missense_Mutation_p.T1140S|SORBS1_ENST00000371249.2_Missense_Mutation_p.T805S|SORBS1_ENST00000371245.3_Missense_Mutation_p.T894S|SORBS1_ENST00000371227.4_Missense_Mutation_p.T1255S|SORBS1_ENST00000354106.3_Missense_Mutation_p.T993S|SORBS1_ENST00000393949.1_Missense_Mutation_p.T993S|SORBS1_ENST00000306402.6_Missense_Mutation_p.T770S|SORBS1_ENST00000347291.4_Missense_Mutation_p.T835S	p.T1281S			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	33	4031	-		Colorectal(252;0.0429)	1281			SH3 3.			Missense_Mutation	SNP	ENST00000361941.3	37	c.3842C>G	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042585	0.93685	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47177	1.57;0.85;0.85;1.57;1.57;1.57;0.85;1.57;0.85;1.57;1.57;0.85;0.85;0.85	5.81	5.81	0.92471	Src homology-3 domain (4);	0.000000	0.40064	N	0.001185	T	0.52917	0.1764	N	0.10664	0.02	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.96;0.998;0.976;0.999;0.997;0.999;0.998;0.999;0.998;0.999;0.999;0.998	P;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.841;0.995;0.923;0.998;0.96;0.99;0.998;0.997;0.994;0.991;0.994;0.983	T	0.63497	-0.6624	10	0.72032	D	0.01	-13.4054	20.081	0.97775	0.0:0.0:1.0:0.0	.	738;1255;805;770;673;800;894;1281;1140;835;993;537	B4DTX5;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5;Q6MZY5	.;.;.;.;.;.;.;SRBS1_HUMAN;.;.;.;.	S	894;770;805;1281;1255;1140;993;894;835;1281;1140;673;993;800	ENSP00000360291:T894S;ENSP00000302556:T770S;ENSP00000360295:T805S;ENSP00000360293:T1281S;ENSP00000360271:T1255S;ENSP00000360292:T1140S;ENSP00000377521:T993S;ENSP00000343998:T894S;ENSP00000277985:T835S;ENSP00000355136:T1281S;ENSP00000277982:T1140S;ENSP00000360285:T673S;ENSP00000277984:T993S;ENSP00000360283:T800S	ENSP00000277982:T1140S	T	-	2	0	SORBS1	97064843	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.426000	0.97469	2.753000	0.94483	0.555000	0.69702	ACT		0.393	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			19	36	19	36	---	---	---	---
RNF214	257160	broad.mit.edu	37	11	117152031	117152031	+	Splice_Site	SNP	T	T	C			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr11:117152031T>C	ENST00000531452.1	+	9	1193	c.1147T>C	c.(1147-1149)Tca>Cca	p.S383P	RNF214_ENST00000530849.1_Splice_Site_p.S228P|RNF214_ENST00000531287.1_Splice_Site_p.S228P|RNF214_ENST00000300650.4_Splice_Site_p.S383P	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	383							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TCTTGAAAGGTCAACTCCCCC	0.473																																						ENST00000530849.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(682-684)Tca>Cca		ring finger protein 214							105.0	98.0	100.0					11																	117152031		1880	4114	5994	SO:0001630	splice_region_variant	257160						zinc ion binding	g.chr11:117152031T>C	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1146-1T>C	11.37:g.117152031T>C						RNF214_ENST00000300650.4_Splice_Site_p.S383P|RNF214_ENST00000531452.1_Splice_Site_p.S383P|RNF214_ENST00000531287.1_Splice_Site_p.S228P	p.S228P			Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	8	692	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	383					B2RUW0|B4DTD1	Splice_Site	SNP	ENST00000531452.1	37	c.682T>C	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282832	0.80692	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650	T;T;D;T	0.94897	-0.61;1.09;-3.55;1.09	5.92	5.92	0.95590	.	0.225189	0.39759	N	0.001265	D	0.95940	0.8678	L	0.57536	1.79	0.80722	D	1	D;D	0.62365	0.978;0.991	P;D	0.64144	0.889;0.922	D	0.95675	0.8727	10	0.49607	T	0.09	-5.5436	14.1057	0.65088	0.0:0.0:0.0:1.0	.	228;383	B4DTD1;Q8ND24	.;RN214_HUMAN	P	228;383;228;383	ENSP00000435361:S228P;ENSP00000431643:S383P;ENSP00000432903:S228P;ENSP00000300650:S383P	ENSP00000300650:S383P	S	+	1	0	RNF214	116657241	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.652000	0.61454	2.263000	0.75096	0.533000	0.62120	TCA		0.473	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239	Missense_Mutation	7	33	7	33	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26640135	26640135	+	Missense_Mutation	SNP	A	A	T			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr12:26640135A>T	ENST00000381340.3	-	40	5836	c.5420T>A	c.(5419-5421)tTt>tAt	p.F1807Y		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1807					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GAGAACTTTAAAGAATTTTTC	0.343																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(5419-5421)tTt>tAt		inositol 1,4,5-trisphosphate receptor, type 2							79.0	72.0	74.0					12																	26640135		1794	4073	5867	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26640135A>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5420T>A	12.37:g.26640135A>T	ENSP00000370744:p.Phe1807Tyr						p.F1807Y	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			40	5836	-	Colorectal(261;0.0847)		1807					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.5420T>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.880438	0.91740	.	.	ENSG00000123104	ENST00000381340	D	0.94758	-3.51	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.97414	0.9154	M	0.86343	2.81	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.98254	1.0495	10	0.87932	D	0	.	15.0587	0.71936	1.0:0.0:0.0:0.0	.	1807	Q14571	ITPR2_HUMAN	Y	1807	ENSP00000370744:F1807Y	ENSP00000370744:F1807Y	F	-	2	0	ITPR2	26531402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.071000	0.93980	2.147000	0.66899	0.528000	0.53228	TTT		0.343	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		7	69	7	69	---	---	---	---
AVPR1A	552	broad.mit.edu	37	12	63543962	63543962	+	Missense_Mutation	SNP	A	A	T			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr12:63543962A>T	ENST00000299178.2	-	1	760	c.655T>A	c.(655-657)Tgg>Agg	p.W219R		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	219					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CCCGTCATCCAGGTCACGTAG	0.597																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(655-657)Tgg>Agg		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						63.0	66.0	65.0					12																	63543962		2203	4300	6503	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543962A>T	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.655T>A	12.37:g.63543962A>T	ENSP00000299178:p.Trp219Arg						p.W219R	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	760	-			219						Missense_Mutation	SNP	ENST00000299178.2	37	c.655T>A	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157781	0.78114	.	.	ENSG00000166148	ENST00000299178	T	0.37058	1.22	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70081	0.3183	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79685	-0.1700	9	.	.	.	-9.501	14.4082	0.67096	1.0:0.0:0.0:0.0	.	219	P37288	V1AR_HUMAN	R	219	ENSP00000299178:W219R	.	W	-	1	0	AVPR1A	61830229	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.178000	0.94855	1.995000	0.58328	0.374000	0.22700	TGG		0.597	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			4	142	4	142	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124297927	124297927	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr12:124297927G>A	ENST00000409039.3	+	19	3032	c.3007G>A	c.(3007-3009)Gac>Aac	p.D1003N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1003	Stem. {ECO:0000250}.				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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGAAATTGGACAAAGCTAT	0.388																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(3007-3009)Gac>Aac		dynein, axonemal, heavy chain 10							140.0	136.0	137.0					12																	124297927		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124297927G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3007G>A	12.37:g.124297927G>A	ENSP00000386770:p.Asp1003Asn						p.D1003N	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	19	3032	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1003			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.3007G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340058	0.81911	.	.	ENSG00000197653	ENST00000409039	T	0.23950	1.88	5.83	5.83	0.93111	.	0.156674	0.41396	D	0.000881	T	0.53594	0.1806	M	0.75447	2.3	0.58432	D	0.999991	D;D;P	0.89917	1.0;1.0;0.714	D;D;B	0.81914	0.995;0.992;0.414	T	0.42565	-0.9444	10	0.35671	T	0.21	.	20.1374	0.98035	0.0:0.0:1.0:0.0	.	1003;878;1003	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	N	1003	ENSP00000386770:D1003N	ENSP00000386770:D1003N	D	+	1	0	DNAH10	122863880	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.490000	0.73645	2.763000	0.94921	0.563000	0.77884	GAC		0.388	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			19	122	19	122	---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130840152	130840152	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr12:130840152C>A	ENST00000245255.3	+	12	1616	c.1344C>A	c.(1342-1344)aaC>aaA	p.N448K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	448					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTGATTCCAACTTACTGTCCT	0.388																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(1342-1344)aaC>aaA		piwi-like RNA-mediated gene silencing 1							191.0	203.0	199.0					12																	130840152		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130840152C>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1344C>A	12.37:g.130840152C>A	ENSP00000245255:p.Asn448Lys						p.N448K	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	12	1616	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		448					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1344C>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	9.321	1.057997	0.19987	.	.	ENSG00000125207	ENST00000245255	T	0.08720	3.06	5.48	2.67	0.31697	Ribonuclease H-like (1);	0.440474	0.28572	N	0.014878	T	0.03263	0.0095	N	0.12569	0.235	0.28239	N	0.925776	B;B	0.11235	0.004;0.003	B;B	0.09377	0.004;0.004	T	0.43180	-0.9407	10	0.06494	T	0.89	-7.712	4.2462	0.10672	0.2611:0.5068:0.0:0.2322	.	448;448	Q96J94;Q96J94-2	PIWL1_HUMAN;.	K	448	ENSP00000245255:N448K	ENSP00000245255:N448K	N	+	3	2	PIWIL1	129406105	0.699000	0.27786	0.991000	0.47740	0.994000	0.84299	-0.279000	0.08479	0.687000	0.31509	0.650000	0.86243	AAC		0.388	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			57	114	57	114	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	93994973	93994973	+	Missense_Mutation	SNP	T	T	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr14:93994973T>A	ENST00000393151.2	+	9	1033	c.1033T>A	c.(1033-1035)Tgc>Agc	p.C345S	UNC79_ENST00000553484.1_Missense_Mutation_p.C345S|UNC79_ENST00000555664.1_Missense_Mutation_p.C345S|UNC79_ENST00000256339.4_Missense_Mutation_p.C168S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	345					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGTGAAGAATGCAGCGAGAG	0.378																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1033-1035)Tgc>Agc		unc-79 homolog (C. elegans)							107.0	102.0	104.0					14																	93994973		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:93994973T>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1033T>A	14.37:g.93994973T>A	ENSP00000376858:p.Cys345Ser					UNC79_ENST00000555664.1_Missense_Mutation_p.C345S|UNC79_ENST00000256339.4_Missense_Mutation_p.C168S|UNC79_ENST00000393151.2_Missense_Mutation_p.C345S	p.C345S			Q9P2D8	UNC79_HUMAN			9	1187	+			345					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1033T>A		.	.	.	.	.	.	.	.	.	.	T	23.5	4.428175	0.83667	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.62105	0.09;0.09;0.05;0.09	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.74183	0.3683	L	0.52011	1.625	0.80722	D	1	D;D	0.58970	0.984;0.96	D;D	0.71656	0.974;0.962	T	0.77013	-0.2745	10	0.87932	D	0	-13.6036	15.337	0.74266	0.0:0.0:0.0:1.0	.	345;345	C9JQL1;Q9P2D8	.;UNC79_HUMAN	S	168;345;345;345;345	ENSP00000256339:C168S;ENSP00000450868:C345S;ENSP00000451360:C345S;ENSP00000376858:C345S	ENSP00000256339:C168S	C	+	1	0	KIAA1409	93064726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.817000	0.86213	2.014000	0.59158	0.533000	0.62120	TGC		0.378	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		44	58	44	58	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54847665	54847665	+	Silent	SNP	G	G	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr15:54847665G>A	ENST00000260323.11	+	28	5913	c.5913G>A	c.(5911-5913)acG>acA	p.T1971T	UNC13C_ENST00000537900.1_Silent_p.T1969T|UNC13C_ENST00000545554.1_Silent_p.T1971T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1971	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGGTCTGACGCCAAGACAAT	0.438																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(5911-5913)acG>acA		unc-13 homolog C (C. elegans)							79.0	77.0	77.0					15																	54847665		1956	4130	6086	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54847665G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5913G>A	15.37:g.54847665G>A						UNC13C_ENST00000260323.11_Silent_p.T1971T|UNC13C_ENST00000537900.1_Silent_p.T1969T	p.T1971T			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	28	5913	+			1971			MHD2.		Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.5913G>A	CCDS45264.1																																																																																				0.438	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		7	2	7	2	---	---	---	---
SLC26A11	284129	broad.mit.edu	37	17	78222020	78222020	+	Silent	SNP	C	C	T			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr17:78222020C>T	ENST00000361193.3	+	14	1666	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	SLC26A11_ENST00000572725.1_Silent_p.L462L|SLC26A11_ENST00000411502.3_Silent_p.L462L|SLC26A11_ENST00000546047.2_Silent_p.L462L	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGTCTCTGCTCATGCTCCTGC	0.637																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1384-1386)ctC>ctT		solute carrier family 26 (anion exchanger), member 11							48.0	41.0	44.0					17																	78222020		2203	4300	6503	SO:0001819	synonymous_variant	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78222020C>T		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.1386C>T	17.37:g.78222020C>T						SLC26A11_ENST00000411502.3_Silent_p.L462L|SLC26A11_ENST00000572725.1_Silent_p.L462L|SLC26A11_ENST00000546047.2_Silent_p.L462L	p.L462L	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		14	1666	+	all_neural(118;0.0538)		462						Silent	SNP	ENST00000361193.3	37	c.1386C>T	CCDS11771.2																																																																																				0.637	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			8	11	8	11	---	---	---	---
RNMT	8731	broad.mit.edu	37	18	13759951	13759951	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr18:13759951G>C	ENST00000383314.2	+	12	1644	c.1404G>C	c.(1402-1404)ttG>ttC	p.L468F	RNMT_ENST00000535051.1_Missense_Mutation_p.L226F|RNMT_ENST00000589866.1_Missense_Mutation_p.L468F|RNMT_ENST00000592764.1_Intron|RNMT_ENST00000543302.2_Missense_Mutation_p.L468F|RNMT_ENST00000262173.3_Missense_Mutation_p.L468F			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	468	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GTATTTACTTGGTGTTTGCCT	0.348																																					GBM(29;474 594 19092 36647 41529)	ENST00000383314.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						c.(1402-1404)ttG>ttC		RNA (guanine-7-) methyltransferase							120.0	114.0	116.0					18																	13759951		2203	4300	6503	SO:0001583	missense	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13759951G>C	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.1404G>C	18.37:g.13759951G>C	ENSP00000372804:p.Leu468Phe					RNMT_ENST00000543302.2_Missense_Mutation_p.L468F|RNMT_ENST00000535051.1_Missense_Mutation_p.L226F|RNMT_ENST00000589866.1_Missense_Mutation_p.L468F|RNMT_ENST00000262173.3_Missense_Mutation_p.L468F|RNMT_ENST00000592764.1_Intron	p.L468F			O43148	MCES_HUMAN			12	1644	+			468					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	c.1404G>C	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440500	0.83993	.	.	ENSG00000101654	ENST00000383314;ENST00000535051;ENST00000543302;ENST00000262173	.	.	.	5.53	5.53	0.82687	.	0.822517	0.11343	N	0.573803	T	0.77301	0.4110	M	0.84326	2.69	0.80722	D	1	P	0.47106	0.89	P	0.53360	0.724	T	0.71912	-0.4449	9	0.24483	T	0.36	-17.5121	18.371	0.90407	0.0:0.0:1.0:0.0	.	468	O43148	MCES_HUMAN	F	468;226;468;468	.	ENSP00000262173:L468F	L	+	3	2	RNMT	13749951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.099000	0.64554	2.762000	0.94881	0.655000	0.94253	TTG		0.348	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		17	17	17	17	---	---	---	---
SERPINB8	5271	broad.mit.edu	37	18	61652428	61652428	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr18:61652428G>C	ENST00000397985.2	+	6	925	c.669G>C	c.(667-669)gaG>gaC	p.E223D	SERPINB8_ENST00000397988.3_Missense_Mutation_p.E223D|SERPINB8_ENST00000542677.1_Missense_Mutation_p.E41D|SERPINB8_ENST00000493661.1_3'UTR|SERPINB8_ENST00000353706.2_Missense_Mutation_p.E223D	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	223					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				ATGTGGAAGAGGAGCTGAGCA	0.512																																						ENST00000397985.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17						c.(667-669)gaG>gaC		serpin peptidase inhibitor, clade B (ovalbumin), member 8							118.0	97.0	104.0					18																	61652428		2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61652428G>C	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.669G>C	18.37:g.61652428G>C	ENSP00000381072:p.Glu223Asp					SERPINB8_ENST00000542677.1_Missense_Mutation_p.E41D|SERPINB8_ENST00000493661.1_3'UTR|SERPINB8_ENST00000353706.2_Missense_Mutation_p.E223D|SERPINB8_ENST00000397988.3_Missense_Mutation_p.E223D	p.E223D	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN			6	925	+		Esophageal squamous(42;0.129)	223					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.669G>C	CCDS11991.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.145|2.145	-0.395920|-0.395920	0.04899|0.04899	.|.	.|.	ENSG00000166401|ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677;ENST00000397988|ENST00000295211	D;D;D;D|.	0.84516|.	-1.57;-1.57;-1.86;-1.57|.	5.5|5.5	-2.12|-2.12	0.07165|0.07165	Serpin domain (3);|.	0.561551|.	0.20914|.	N|.	0.083404|.	T|T	0.16171|0.16171	0.0389|0.0389	N|N	0.17379|0.17379	0.485|0.485	0.09310|0.09310	N|N	0.999997|0.999997	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.08055|.	0.002;0.003|.	T|T	0.23154|0.23154	-1.0196|-1.0196	10|5	0.32370|.	T|.	0.25|.	.|.	0.8184|0.8184	0.01107|0.01107	0.2776:0.2914:0.2505:0.1806|0.2776:0.2914:0.2505:0.1806	.|.	223;223|.	P50452;Q8N178|.	SPB8_HUMAN;.|.	D|T	223;223;41;223|165	ENSP00000381072:E223D;ENSP00000331368:E223D;ENSP00000438328:E41D;ENSP00000381075:E223D|.	ENSP00000331368:E223D|.	E|R	+|+	3|2	2|0	SERPINB8|SERPINB8	59803408|59803408	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.059000|0.059000	0.15707|0.15707	-2.772000|-2.772000	0.00779|0.00779	-0.337000|-0.337000	0.08426|0.08426	0.650000|0.650000	0.86243|0.86243	GAG|AGG		0.512	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		11	27	11	27	---	---	---	---
ZBTB7A	51341	broad.mit.edu	37	19	4054211	4054211	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr19:4054211C>A	ENST00000322357.4	-	2	1298	c.1020G>T	c.(1018-1020)gaG>gaT	p.E340D	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.E340D	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	340					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCCGCGACTCCTCGTCGC	0.706																																						ENST00000322357.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(1018-1020)gaG>gaT		zinc finger and BTB domain containing 7A							22.0	23.0	22.0					19																	4054211		2203	4300	6503	SO:0001583	missense	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4054211C>A	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1020G>T	19.37:g.4054211C>A	ENSP00000323670:p.Glu340Asp					ZBTB7A_ENST00000601588.1_Missense_Mutation_p.E340D	p.E340D	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1298	-		Hepatocellular(1079;0.137)	340					D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	c.1020G>T	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	C	5.319	0.244185	0.10077	.	.	ENSG00000178951	ENST00000322357	T	0.12465	2.68	5.02	3.96	0.45880	.	0.145219	0.45361	D	0.000361	T	0.04227	0.0117	N	0.01576	-0.805	0.09310	N	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.41448	-0.9508	10	0.15066	T	0.55	.	8.8944	0.35455	0.1978:0.6694:0.1328:0.0	.	340	O95365	ZBT7A_HUMAN	D	340	ENSP00000323670:E340D	ENSP00000323670:E340D	E	-	3	2	ZBTB7A	4005211	0.895000	0.30542	1.000000	0.80357	0.853000	0.48598	0.241000	0.18065	2.331000	0.79229	0.455000	0.32223	GAG		0.706	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		9	20	9	20	---	---	---	---
CT47B1	643311	broad.mit.edu	37	X	120009180	120009180	+	Silent	SNP	G	G	A			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chrX:120009180G>A	ENST00000371311.3	-	1	599	c.345C>T	c.(343-345)taC>taT	p.Y115Y		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	115										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCGCCGCCGGGTACCGACGGG	0.632																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(343-345)taC>taT		cancer/testis antigen family 47, member B1							54.0	68.0	64.0					X																	120009180		692	1590	2282	SO:0001819	synonymous_variant	643311							g.chrX:120009180G>A		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.345C>T	X.37:g.120009180G>A							p.Y115Y	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	599	-			115					A6NM97	Silent	SNP	ENST00000371311.3	37	c.345C>T	CCDS48161.1																																																																																				0.632	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		10	6	10	6	---	---	---	---
SEMA3A	10371	broad.mit.edu	37	7	83590830	83590830	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr7:83590830delC	ENST00000265362.4	-	17	2487	c.2173delG	c.(2173-2175)gttfs	p.V725fs	SEMA3A_ENST00000436949.1_Frame_Shift_Del_p.V725fs	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	725					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTTTTCCAAACTTGTTCACAG	0.453																																						ENST00000265362.4																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2173-2175)gttfs		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							208.0	181.0	190.0					7																	83590830		2203	4300	6503	SO:0001589	frameshift_variant	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83590830delC	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.2173delG	7.37:g.83590830delC	ENSP00000265362:p.Val725fs					SEMA3A_ENST00000436949.1_Frame_Shift_Del_p.V725fs	p.V725fs	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			17	2487	-									Frame_Shift_Del	DEL	ENST00000265362.4	37	c.2173delG	CCDS5599.1																																																																																				0.453	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		7	141	7	141	---	---	---	---
PI15	51050	broad.mit.edu	37	8	75761482	75761485	+	Frame_Shift_Del	DEL	TAAA	TAAA	-	rs536342698		TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr8:75761482_75761485delTAAA	ENST00000260113.2	+	6	950_953	c.771_774delTAAA	c.(769-774)tttaaafs	p.FK257fs	RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Frame_Shift_Del_p.FK257fs	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	257						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TGTACTGGTTTAAATAAGTTTACC	0.358																																						ENST00000260113.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30						c.(769-774)tttaaafs		peptidase inhibitor 15																																				SO:0001589	frameshift_variant	51050					extracellular region	peptidase inhibitor activity	g.chr8:75761482_75761485delTAAA	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.771_774delTAAA	8.37:g.75761482_75761485delTAAA	ENSP00000260113:p.Phe257fs					PI15_ENST00000523773.1_Frame_Shift_Del_p.FK257fs|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA	p.FK257fs	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		6	950_953	+	Breast(64;0.137)		257					Q68CY1	Frame_Shift_Del	DEL	ENST00000260113.2	37	c.771_774delTAAA	CCDS6218.1																																																																																				0.358	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		38	41	38	41	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49440431	49440431	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr12:49440431delG	ENST00000301067.7	-	15	4378	c.4379delC	c.(4378-4380)ccafs	p.P1460fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1460	Cys-rich.				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)										GGTGAGCAGTGGGGGGTCCAG	0.562																																						ENST00000301067.7																			0											c.(4378-4380)ccafs		lysine (K)-specific methyltransferase 2D							95.0	101.0	99.0					12																	49440431		2046	4184	6230	SO:0001589	frameshift_variant	8085							g.chr12:49440431delG	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.4379delC	12.37:g.49440431delG	ENSP00000301067:p.Pro1460fs						p.P1460fs	NM_003482.3	NP_003473.3					15	4378	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.4379delC	CCDS44873.1																																																																																				0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			48	91	48	91	---	---	---	---
CD37	951	broad.mit.edu	37	19	49842112	49842114	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-VN-A88P-01A-11D-A34U-08	TCGA-VN-A88P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf4265c8-5f60-4f71-8ade-cb73044fa524	afbadcf2-d858-478b-adda-23f04631ad78	g.chr19:49842112_49842114delCAG	ENST00000323906.4	+	6	744_746	c.603_605delCAG	c.(601-606)ctcagc>ctc	p.S202del	CD37_ENST00000598095.1_In_Frame_Del_p.S134del|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000426897.2_In_Frame_Del_p.S134del|CD37_ENST00000535669.2_In_Frame_Del_p.S202del	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	202					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		TGCCCCAGCTCAGCAGGCTTGGA	0.621																																						ENST00000535669.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11						c.(601-606)ctcagc>ctc		CD37 molecule																																				SO:0001651	inframe_deletion	951					integral to membrane		g.chr19:49842112_49842114delCAG		CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"""CD molecules"", ""Tetraspanins"""	1666	protein-coding gene	gene with protein product		151523	"""CD37 antigen"""			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.603_605delCAG	19.37:g.49842115_49842117delCAG	ENSP00000325708:p.Ser202del					CD37_ENST00000323906.4_In_Frame_Del_p.S202del|CD37_ENST00000426897.2_In_Frame_Del_p.S134del|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000598095.1_In_Frame_Del_p.S134del	p.S202del			P11049	CD37_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)	6	717_719	+		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	202					B4DVC1|Q3KPF9	In_Frame_Del	DEL	ENST00000323906.4	37	c.603_605delCAG	CCDS12760.1																																																																																				0.621	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1			22	55	22	55	---	---	---	---
