#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
DNAJC6	9829	broad.mit.edu	37	1	65845142	65845142	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr1:65845142G>A	ENST00000395325.3	+	5	587	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	DNAJC6_ENST00000371069.4_Missense_Mutation_p.V201M|DNAJC6_ENST00000263441.7_Missense_Mutation_p.V131M	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	144	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CCTTTTTGCTGTGTGTCGGAA	0.458																																						uc001dcd.1																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(430-432)GTG>ATG		DnaJ (Hsp40) homolog, subfamily C, member 6							207.0	192.0	197.0					1																	65845142		2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65845142G>A	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.430G>A	1.37:g.65845142G>A	ENSP00000378735:p.Val144Met					DNAJC6_uc001dcc.1_Missense_Mutation_p.V175M|DNAJC6_uc010opc.1_Missense_Mutation_p.V131M|DNAJC6_uc001dce.1_Missense_Mutation_p.V201M	p.V144M	NM_014787	NP_055602	O75061	AUXI_HUMAN			5	594	+			144			Phosphatase tensin-type.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.430G>A	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006833	0.93287	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.98617	-5.03;-5.03;-5.03	5.41	5.41	0.78517	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98337	0.9448	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79108	0.992;0.983;0.971	D	0.98968	1.0800	10	0.49607	T	0.09	.	19.3939	0.94598	0.0:0.0:1.0:0.0	.	201;144;131	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	M	131;144;201	ENSP00000263441:V131M;ENSP00000378735:V144M;ENSP00000360108:V201M	ENSP00000263441:V131M	V	+	1	0	DNAJC6	65617730	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.816000	0.96949	0.561000	0.74099	GTG		0.458	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1		
VAV3	10451	broad.mit.edu	37	1	108417540	108417540	+	Missense_Mutation	SNP	C	C	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr1:108417540C>A	ENST00000370056.4	-	2	578	c.304G>T	c.(304-306)Gtt>Ttt	p.V102F	VAV3_ENST00000371846.4_Missense_Mutation_p.V37F|VAV3_ENST00000527011.1_Missense_Mutation_p.V102F	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	102	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)		AAGTCACGAACATCAAACAAG	0.358																																						uc001dvk.1																			0				ovary(5)|lung(2)|breast(2)	9						c.(304-306)GTT>TTT		vav 3 guanine nucleotide exchange factor isoform							85.0	80.0	82.0					1																	108417540		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.chr1:108417540C>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.304G>T	1.37:g.108417540C>A	ENSP00000359073:p.Val102Phe					VAV3_uc010ouw.1_Missense_Mutation_p.V102F|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.V102F	p.V102F	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	2	358	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	102			CH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.304G>T	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.900390|4.900390	0.92035|0.92035	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000490388|ENST00000370056;ENST00000527011;ENST00000371846	.|T;T;T	.|0.40476	.|1.03;1.03;1.03	6.08|6.08	6.08|6.08	0.98989|0.98989	.|Calponin homology domain (5);	.|0.291885	.|0.33199	.|N	.|0.005171	T|T	0.61324|0.61324	0.2338|0.2338	M|M	0.73753|0.73753	2.245|2.245	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.69078	.|0.687;0.818;0.997	.|P;P;D	.|0.79784	.|0.868;0.832;0.993	T|T	0.60224|0.60224	-0.7305|-0.7305	5|10	.|0.56958	.|D	.|0.05	.|.	19.2273|19.2273	0.93822|0.93822	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|102;102;102	.|B7ZLR1;E9PQ97;Q9UKW4	.|.;.;VAV3_HUMAN	I|F	96|102;102;37	.|ENSP00000359073:V102F;ENSP00000432540:V102F;ENSP00000360912:V37F	.|ENSP00000359073:V102F	M|V	-|-	3|1	0|0	VAV3|VAV3	108219063|108219063	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.302000|7.302000	0.78861|0.78861	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	ATG|GTT		0.358	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	
FLG	2312	broad.mit.edu	37	1	152284952	152284952	+	Nonsense_Mutation	SNP	C	C	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr1:152284952C>A	ENST00000368799.1	-	3	2445	c.2410G>T	c.(2410-2412)Gag>Tag	p.E804*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	804	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGAGGACTCAGACTGTTTA	0.572									Ichthyosis																													uc001ezu.1																			0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(2410-2412)GAG>TAG		filaggrin							254.0	247.0	249.0					1																	152284952		2203	4300	6503	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284952C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2410G>T	1.37:g.152284952C>A	ENSP00000357789:p.Glu804*					uc001ezv.2_5'Flank	p.E804*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2446	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		804			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.2410G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	36	5.693186	0.96793	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.15	0.909	0.19332	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	3.3467	0.07137	0.0:0.5035:0.3157:0.1808	.	.	.	.	X	804	.	ENSP00000357789:E804X	E	-	1	0	FLG	150551576	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.302000	0.02746	0.518000	0.28383	0.479000	0.44913	GAG		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
CD1E	913	broad.mit.edu	37	1	158323687	158323687	+	5'UTR	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr1:158323687C>T	ENST00000368167.3	+	0	148				CD1E_ENST00000368157.1_5'Flank|CD1E_ENST00000368156.1_5'Flank|CD1E_ENST00000368160.3_5'Flank|CD1E_ENST00000368154.1_5'Flank|CD1E_ENST00000368166.3_5'UTR|CD1E_ENST00000368155.3_5'Flank|CD1E_ENST00000452291.2_5'UTR|CD1E_ENST00000368161.3_5'Flank|CD1E_ENST00000434258.1_Intron|CD1E_ENST00000368163.3_5'Flank|CD1E_ENST00000444681.2_5'UTR|CD1E_ENST00000368165.3_5'UTR|CD1E_ENST00000368164.3_5'Flank	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule						antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGAAGTCAGACGAGAGTGCAA	0.542																																						uc001fse.2																			0				skin(3)	3						c.(-93--89)GACGA>GATGA		CD1E antigen isoform a precursor																																				SO:0001623	5_prime_UTR_variant	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158323687C>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.-92C>T	1.37:g.158323687C>T						CD1E_uc010pid.1_Intron|CD1E_uc010pie.1_Translation_Start_Site|CD1E_uc010pif.1_Translation_Start_Site|CD1E_uc001fsd.2_Translation_Start_Site|CD1E_uc001fsk.2_Translation_Start_Site|CD1E_uc001fsj.2_Translation_Start_Site|CD1E_uc001fsc.2_Translation_Start_Site|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Translation_Start_Site|CD1E_uc001fsf.2_Translation_Start_Site|CD1E_uc001fry.2_Translation_Start_Site|CD1E_uc001fsg.2_Translation_Start_Site|CD1E_uc001fsh.2_Translation_Start_Site|CD1E_uc001fsi.2_Translation_Start_Site|CD1E_uc009wsv.2_Translation_Start_Site|CD1E_uc001frz.2_Translation_Start_Site|CD1E_uc009wsw.2_5'Flank		NM_030893	NP_112155	P15812	CD1E_HUMAN			1	148	+	all_hematologic(112;0.0378)							B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Translation_Start_Site	SNP	ENST00000368167.3	37	c.-91C>T	CCDS41417.1																																																																																				0.542	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893	
PTEN	5728	broad.mit.edu	37	10	89685315	89685318	+	Splice_Site	DEL	GTAA	GTAA	-	rs398123318		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr10:89685315_89685318delGTAA	ENST00000371953.3	+	3	1566		c.e3+1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(17)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATACAATCTGTAAGTATGTTTTC	0.275		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		64	Whole gene deletion(37)|Unknown(17)|Deletion - Frameshift(10)	p.?(15)|p.R55fs*1(4)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(1)	central_nervous_system(20)|prostate(16)|skin(7)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|endometrium(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CD004539|CD004540|CS991490|CS992480	PTEN	D|S		c.e4+1		phosphatase and tensin homolog																																				SO:0001630	splice_region_variant	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89685315_89685318delGTAA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.209+1GTAA>-	10.37:g.89685315_89685318delGTAA		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.L70_splice	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1240	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)						B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	DEL	ENST00000371953.3	37	c.209_splice	CCDS31238.1																																																																																				0.275	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron
BTRC	8945	broad.mit.edu	37	10	103281492	103281492	+	Missense_Mutation	SNP	T	T	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr10:103281492T>G	ENST00000370187.3	+	5	539	c.421T>G	c.(421-423)Ttt>Gtt	p.F141V	BTRC_ENST00000408038.2_Missense_Mutation_p.F105V|BTRC_ENST00000393441.4_Missense_Mutation_p.F100V	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	141	Homodimerization domain D.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TGTCAAATACTTTGAGCAGTG	0.413																																						uc001kta.2																			0				ovary(1)	1						c.(421-423)TTT>GTT		beta-transducin repeat containing protein							135.0	122.0	126.0					10																	103281492		2203	4300	6503	SO:0001583	missense	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103281492T>G	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.421T>G	10.37:g.103281492T>G	ENSP00000359206:p.Phe141Val					BTRC_uc001ktb.2_Missense_Mutation_p.F105V|BTRC_uc001ktc.2_Missense_Mutation_p.F115V	p.F141V	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	5	534	+		Colorectal(252;0.234)	141			Homodimerization domain D.		B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	c.421T>G	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.199635	0.79015	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038;ENST00000370183	T;T;T	0.70164	-0.23;-0.17;-0.46	5.6	5.6	0.85130	D domain of beta-TrCP (1);	0.070952	0.64402	D	0.000012	T	0.71787	0.3381	M	0.65975	2.015	0.53688	D	0.999974	P;P;B	0.42692	0.787;0.748;0.177	P;B;B	0.45913	0.497;0.364;0.11	T	0.75534	-0.3284	10	0.66056	D	0.02	-9.41	16.1249	0.81386	0.0:0.0:0.0:1.0	.	115;105;141	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	V	141;100;105;123	ENSP00000359206:F141V;ENSP00000377088:F100V;ENSP00000385339:F105V	ENSP00000359202:F123V	F	+	1	0	BTRC	103271482	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.994000	0.88315	2.262000	0.75019	0.529000	0.55759	TTT		0.413	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637	
PITX3	5309	broad.mit.edu	37	10	103990780	103990780	+	Missense_Mutation	SNP	C	C	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr10:103990780C>A	ENST00000370002.3	-	4	553	c.400G>T	c.(400-402)Gcg>Tcg	p.A134S	PITX3_ENST00000539804.1_Missense_Mutation_p.A134S	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	134					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCGGCGCCGCGAAGCTGCCT	0.711																																						uc001kuu.1																			0					0						c.(400-402)GCG>TCG		paired-like homeodomain 3							7.0	10.0	9.0					10																	103990780		2125	4186	6311	SO:0001583	missense	5309				dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:103990780C>A		CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"""Homeoboxes / PRD class"""	9006	protein-coding gene	gene with protein product		602669	"""paired-like homeodomain transcription factor 3"", ""anterior segment mesenchymal dysgenesis"""	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.400G>T	10.37:g.103990780C>A	ENSP00000359019:p.Ala134Ser						p.A134S	NM_005029	NP_005020	O75364	PITX3_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	4	554	-		Colorectal(252;0.00957)	134					Q5VZL2	Missense_Mutation	SNP	ENST00000370002.3	37	c.400G>T	CCDS7532.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506069	0.64410	.	.	ENSG00000107859	ENST00000370002;ENST00000539804	D;D	0.88896	-2.44;-2.44	4.74	4.74	0.60224	.	0.052663	0.85682	D	0.000000	T	0.78039	0.4221	N	0.03608	-0.345	0.44547	D	0.9975	B	0.14805	0.011	B	0.09377	0.004	T	0.73805	-0.3867	10	0.49607	T	0.09	.	17.7191	0.88345	0.0:1.0:0.0:0.0	.	134	O75364	PITX3_HUMAN	S	134	ENSP00000359019:A134S;ENSP00000439383:A134S	ENSP00000359019:A134S	A	-	1	0	PITX3	103980770	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.667000	0.61561	2.161000	0.67846	0.455000	0.32223	GCG		0.711	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050031.1		
C11orf30	56946	broad.mit.edu	37	11	76164415	76164415	+	Missense_Mutation	SNP	A	A	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr11:76164415A>C	ENST00000529032.1	+	3	228	c.228A>C	c.(226-228)ttA>ttC	p.L76F	C11orf30_ENST00000533248.1_Missense_Mutation_p.L76F|C11orf30_ENST00000525959.1_3'UTR|C11orf30_ENST00000524490.1_Missense_Mutation_p.L76F|C11orf30_ENST00000524767.1_Missense_Mutation_p.L76F|C11orf30_ENST00000334736.3_Missense_Mutation_p.L76F|C11orf30_ENST00000525038.1_Missense_Mutation_p.L76F|C11orf30_ENST00000533988.1_Missense_Mutation_p.L76F|C11orf30_ENST00000525919.1_Missense_Mutation_p.L76F|C11orf30_ENST00000343878.3_Missense_Mutation_p.L76F			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	76	ENT. {ECO:0000255|PROSITE- ProRule:PRU00476}.|Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ATGAACGGTTAACAACAATTG	0.403																																						uc001oxl.2																			0				ovary(5)|skin(1)	6						c.(226-228)TTA>TTC		EMSY protein							125.0	104.0	111.0					11																	76164415		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76164415A>C	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.228A>C	11.37:g.76164415A>C	ENSP00000432327:p.Leu76Phe					C11orf30_uc001oxj.2_Missense_Mutation_p.L76F|C11orf30_uc001oxk.2_Missense_Mutation_p.L76F|C11orf30_uc009yuj.1_Missense_Mutation_p.L76F|C11orf30_uc010rsa.1_Missense_Mutation_p.L76F|C11orf30_uc001oxm.2_Missense_Mutation_p.L76F|C11orf30_uc010rsb.1_Missense_Mutation_p.L76F|C11orf30_uc010rsc.1_Missense_Mutation_p.L76F|C11orf30_uc001oxn.2_Missense_Mutation_p.L76F|C11orf30_uc010rsd.1_Missense_Mutation_p.L76F	p.L76F	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			4	371	+			76			Interaction with BRCA2.|ENT.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.228A>C	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.093419	0.36952	.	.	ENSG00000158636	ENST00000533988;ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	6.08	4.96	0.65561	EMSY N-terminal (2);	0.063707	0.64402	D	0.000006	T	0.72763	0.3501	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.998;0.998;0.998;0.998;0.998;1.0;0.998;1.0;0.993	T	0.74156	-0.3756	9	0.87932	D	0	-4.9616	3.9011	0.09161	0.6689:0.1341:0.0685:0.1285	.	76;76;76;76;76;76;76;76;76	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589;B4E1Z2	.;.;.;.;.;.;.;EMSY_HUMAN;.	F	76	.	ENSP00000334130:L76F	L	+	3	2	C11orf30	75842063	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.821000	0.39041	1.129000	0.42072	0.533000	0.62120	TTA		0.403	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193	
ELMOD1	55531	broad.mit.edu	37	11	107518220	107518220	+	Silent	SNP	T	T	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr11:107518220T>A	ENST00000265840.7	+	7	712	c.447T>A	c.(445-447)acT>acA	p.T149T	ELMOD1_ENST00000531234.1_Silent_p.T143T|ELMOD1_ENST00000443271.2_Silent_p.T149T	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	149	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		AGCCCAATACTCCACTGGAAT	0.383																																						uc010rvs.1																			0					0						c.(445-447)ACT>ACA		ELMO/CED-12 domain containing 1 isoform 1							102.0	97.0	99.0					11																	107518220		1823	4088	5911	SO:0001819	synonymous_variant	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107518220T>A	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.447T>A	11.37:g.107518220T>A						ELMOD1_uc001pjm.2_Silent_p.T149T|ELMOD1_uc010rvt.1_Silent_p.T143T	p.T149T	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	7	851	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	149			ELMO.		B4E167|G5E9S5|Q9NPW3	Silent	SNP	ENST00000265840.7	37	c.447T>A	CCDS44723.1																																																																																				0.383	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712	
WNK1	65125	broad.mit.edu	37	12	998382	998382	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:998382C>T	ENST00000315939.6	+	21	6084	c.5441C>T	c.(5440-5442)gCg>gTg	p.A1814V	WNK1_ENST00000530271.2_Missense_Mutation_p.A2312V|WNK1_ENST00000537687.1_Missense_Mutation_p.A2074V|WNK1_ENST00000340908.4_Missense_Mutation_p.A1407V|WNK1_ENST00000535572.1_Missense_Mutation_p.A1567V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1814					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGACTTCTGCGGTTGGTGTA	0.368																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			0				stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(5440-5442)GCG>GTG		WNK lysine deficient protein kinase 1							158.0	154.0	156.0					12																	998382		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:998382C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5441C>T	12.37:g.998382C>T	ENSP00000313059:p.Ala1814Val					WNK1_uc001qip.3_Missense_Mutation_p.A1567V|WNK1_uc001qir.3_Missense_Mutation_p.A987V	p.A1814V	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		21	5948	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1814					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.5441C>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539953	0.45176	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.77	3.95	0.45737	.	0.605320	0.15541	N	0.256926	T	0.32675	0.0837	L	0.29908	0.895	0.27014	N	0.964613	B;B;B	0.18968	0.032;0.032;0.019	B;B;B	0.14023	0.01;0.01;0.004	T	0.21109	-1.0255	10	0.48119	T	0.1	-1.4073	12.7395	0.57243	0.0:0.8663:0.0:0.1337	.	1567;1567;1814	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	V	1567;1814;2074;987;2312;1407	ENSP00000441972:A1567V;ENSP00000313059:A1814V;ENSP00000444465:A2074V;ENSP00000433548:A2312V;ENSP00000341292:A1407V	ENSP00000252477:A987V	A	+	2	0	WNK1	868643	0.762000	0.28451	0.221000	0.23827	0.600000	0.36913	1.202000	0.32271	0.900000	0.36469	0.655000	0.94253	GCG		0.368	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979	
RERG	85004	broad.mit.edu	37	12	15262109	15262109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:15262109G>A	ENST00000256953.2	-	5	871	c.535C>T	c.(535-537)Cga>Tga	p.R179*	RERG_ENST00000538313.1_Nonsense_Mutation_p.R179*|RERG_ENST00000546331.1_Nonsense_Mutation_p.R160*|RERG_ENST00000536465.1_Nonsense_Mutation_p.R179*	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	179					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R179*(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GAGCTGCGTCGCCTCGTCTTG	0.532																																						uc001rcs.2																			1	Substitution - Nonsense(1)		endometrium(1)	lung(1)	1						c.(535-537)CGA>TGA		RAS-like, estrogen-regulated, growth inhibitor							124.0	116.0	119.0					12																	15262109		2203	4300	6503	SO:0001587	stop_gained	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262109G>A	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.535C>T	12.37:g.15262109G>A	ENSP00000256953:p.Arg179*					RERG_uc001rct.2_Nonsense_Mutation_p.R179*|RERG_uc010shu.1_Nonsense_Mutation_p.R160*	p.R179*	NM_032918	NP_116307	Q96A58	RERG_HUMAN			4	675	-			179					B2R9R0|B4DI02	Nonsense_Mutation	SNP	ENST00000256953.2	37	c.535C>T	CCDS8673.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480703	0.84747	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331	.	.	.	4.56	-1.24	0.09435	.	0.106561	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	14.4665	0.67488	0.0:0.0:0.2328:0.7672	.	.	.	.	X	179;179;179;160	.	ENSP00000256953:R179X	R	-	1	2	RERG	15153376	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	0.944000	0.29043	-0.055000	0.13244	0.655000	0.94253	CGA		0.532	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918	
AVPR1A	552	broad.mit.edu	37	12	63543857	63543857	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:63543857G>A	ENST00000299178.2	-	1	865	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	254					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)	p.R254C(1)		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)	TTGCTCTGGCGCGACGCCGTC	0.617																																						uc001sro.1																			1	Substitution - Missense(1)		prostate(1)		0						c.(760-762)CGC>TGC		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						96.0	96.0	96.0					12																	63543857		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.chr12:63543857G>A	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.760C>T	12.37:g.63543857G>A	ENSP00000299178:p.Arg254Cys						p.R254C	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	2734	-			254			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000299178.2	37	c.760C>T	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921813	0.33908	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.73469	-0.75;-0.75	5.29	1.6	0.23607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	N	0.001512	T	0.59115	0.2170	L	0.39514	1.22	0.21220	N	0.999759	B	0.19817	0.039	B	0.21546	0.035	T	0.40270	-0.9572	9	.	.	.	-13.3074	5.8336	0.18594	0.1974:0.3561:0.4465:0.0	.	254	P37288	V1AR_HUMAN	C	35;254	ENSP00000449822:R35C;ENSP00000299178:R254C	.	R	-	1	0	AVPR1A	61830124	0.001000	0.12720	0.135000	0.22099	0.903000	0.53119	0.341000	0.19909	1.224000	0.43551	0.455000	0.32223	CGC		0.617	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1		
SYT1	6857	broad.mit.edu	37	12	79693293	79693293	+	Nonsense_Mutation	SNP	G	G	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:79693293G>T	ENST00000261205.4	+	8	1429	c.772G>T	c.(772-774)Gag>Tag	p.E258*	SYT1_ENST00000457153.2_Nonsense_Mutation_p.E255*|SYT1_ENST00000393240.3_Nonsense_Mutation_p.E258*|SYT1_ENST00000552744.1_Nonsense_Mutation_p.E258*	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	258	Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CCATGTAACTGAGGAATGGCG	0.418																																						uc001sys.2																			0				skin(3)|pancreas(2)|ovary(1)	6						c.(772-774)GAG>TAG		synaptotagmin I							147.0	136.0	140.0					12																	79693293		2203	4299	6502	SO:0001587	stop_gained	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79693293G>T		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.772G>T	12.37:g.79693293G>T	ENSP00000261205:p.Glu258*					SYT1_uc001syt.2_Nonsense_Mutation_p.E258*|SYT1_uc001syu.2_Nonsense_Mutation_p.E255*|SYT1_uc001syv.2_Nonsense_Mutation_p.E258*	p.E258*	NM_001135805	NP_001129277	P21579	SYT1_HUMAN			9	1443	+			258			Cytoplasmic (Potential).|Phospholipid binding (Probable).		Q6AI31	Nonsense_Mutation	SNP	ENST00000261205.4	37	c.772G>T	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	G	37	6.118438	0.97300	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.6572	0.95847	0.0:0.0:1.0:0.0	.	.	.	.	X	258;258;255;258	.	ENSP00000261205:E258X	E	+	1	0	SYT1	78217424	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	9.869000	0.99810	2.630000	0.89119	0.650000	0.86243	GAG		0.418	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639	
KSR2	283455	broad.mit.edu	37	12	118198971	118198971	+	Silent	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:118198971C>T	ENST00000339824.5	-	4	1558	c.831G>A	c.(829-831)ccG>ccA	p.P277P	KSR2_ENST00000425217.1_Silent_p.P248P			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	277	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTCATGGGCGGCGTGCCCG	0.701																																						uc001two.2																			0				lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(742-744)CCG>CCA		kinase suppressor of ras 2							86.0	104.0	98.0					12																	118198971		1872	4098	5970	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118198971C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.831G>A	12.37:g.118198971C>T							p.P248P	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			4	799	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		277			Pro-rich.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.744G>A																																																																																					0.701	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	
ZNF268	10795	broad.mit.edu	37	12	133780200	133780200	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:133780200A>G	ENST00000536435.2	+	6	2258	c.1928A>G	c.(1927-1929)aAt>aGt	p.N643S	ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.N643S|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.N482S	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	643					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TATAGTTGTAATGAATGTGGA	0.383																																						uc010tcf.1																			0				ovary(1)	1						c.(1927-1929)AAT>AGT		zinc finger protein 268 isoform a							77.0	69.0	71.0					12																	133780200		692	1591	2283	SO:0001583	missense	10795					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133780200A>G	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.1928A>G	12.37:g.133780200A>G	ENSP00000444412:p.Asn643Ser					ZNF268_uc010tbv.1_Missense_Mutation_p.N482S|ZNF268_uc010tbw.1_Missense_Mutation_p.N482S|ZNF268_uc010tbx.1_Missense_Mutation_p.N503S|ZNF268_uc010tby.1_Missense_Mutation_p.N482S|ZNF268_uc010tbz.1_Missense_Mutation_p.N482S|ZNF268_uc010tca.1_Missense_Mutation_p.N482S|ZNF268_uc010tcb.1_Missense_Mutation_p.N503S|ZNF268_uc010tcc.1_Missense_Mutation_p.N482S|ZNF268_uc010tcd.1_Missense_Mutation_p.N482S|ZNF268_uc010tce.1_Missense_Mutation_p.N482S|ZNF268_uc010tcg.1_Missense_Mutation_p.N482S|ZNF268_uc010tch.1_Missense_Mutation_p.N643S	p.N643S	NM_003415	NP_003406	Q14587	ZN268_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	6	2258	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	643			C2H2-type 14.		Q8TDG8|Q96RH4|Q9BZJ9	Missense_Mutation	SNP	ENST00000536435.2	37	c.1928A>G	CCDS45012.1	.	.	.	.	.	.	.	.	.	.	A	6.362	0.434851	0.12045	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565;ENST00000541019	T;T	0.07216	3.21;3.21	4.28	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02688	0.0081	N	0.02403	-0.565	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.47598	-0.9105	8	.	.	.	.	4.2469	0.10675	0.399:0.1692:0.4318:0.0	.	643;482	Q14587;Q14587-2	ZN268_HUMAN;.	S	643;643;482;482	ENSP00000228289:N643S;ENSP00000445713:N482S	.	N	+	2	0	ZNF268	.	0.000000	0.05858	0.916000	0.36221	0.976000	0.68499	-3.011000	0.00647	0.415000	0.25817	-0.242000	0.12053	AAT		0.383	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943	
MTUS2	23281	broad.mit.edu	37	13	29675102	29675102	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr13:29675102C>T	ENST00000431530.3	+	3	2727	c.2669C>T	c.(2668-2670)gCc>gTc	p.A890V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	880	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGCCGGCCAGCCACCCGTAAG	0.582																																						uc001usl.3																			0					0						c.(2668-2670)GCC>GTC		hypothetical protein LOC23281 isoform a							4.0	5.0	5.0					13																	29675102		1936	4065	6001	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29675102C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2669C>T	13.37:g.29675102C>T	ENSP00000392057:p.Ala890Val						p.A890V	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			3	2727	+			880			Sufficient for interaction with KIF2C.|Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2669C>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	C	6.458	0.452576	0.12283	.	.	ENSG00000132938	ENST00000431530	T	0.14766	2.48	5.23	2.27	0.28462	.	0.533289	0.15577	N	0.255106	T	0.07773	0.0195	N	0.20401	0.57	0.47511	D	0.999448	B	0.23249	0.082	B	0.26202	0.067	T	0.32508	-0.9904	9	.	.	.	.	5.0686	0.14594	0.1614:0.6453:0.0:0.1933	.	880	Q5JR59	MTUS2_HUMAN	V	890	ENSP00000392057:A890V	.	A	+	2	0	MTUS2	28573102	0.808000	0.29022	0.042000	0.18584	0.005000	0.04900	2.311000	0.43717	0.103000	0.17682	0.563000	0.77884	GCC		0.582	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
PDS5B	23047	broad.mit.edu	37	13	33327545	33327545	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr13:33327545G>C	ENST00000315596.10	+	25	2998	c.2812G>C	c.(2812-2814)Gag>Cag	p.E938Q		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	938					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GCTTCCACTTGAGTATATGGC	0.413																																						uc010abf.2																			0				ovary(2)|lung(1)|pancreas(1)	4						c.(2812-2814)GAG>CAG		PDS5, regulator of cohesion maintenance, homolog							132.0	121.0	125.0					13																	33327545		1845	4105	5950	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33327545G>C	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2812G>C	13.37:g.33327545G>C	ENSP00000313851:p.Glu938Gln					PDS5B_uc010abg.2_RNA	p.E938Q	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	25	2970	+		Lung SC(185;0.0367)	938					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.2812G>C	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281964	0.95489	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.68765	-0.35	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.095752	0.64402	D	0.000001	T	0.74981	0.3788	L	0.54323	1.7	0.80722	D	1	D	0.56035	0.974	P	0.55087	0.768	T	0.74985	-0.3477	10	0.46703	T	0.11	-22.3529	19.1582	0.93520	0.0:0.0:1.0:0.0	.	938	Q9NTI5	PDS5B_HUMAN	Q	938	ENSP00000313851:E938Q	ENSP00000313851:E938Q	E	+	1	0	PDS5B	32225545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.756000	0.98918	2.521000	0.84997	0.484000	0.47621	GAG		0.413	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032	
GPR180	160897	broad.mit.edu	37	13	95275364	95275364	+	Splice_Site	SNP	G	G	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr13:95275364G>C	ENST00000376958.4	+	7	921	c.896G>C	c.(895-897)aGt>aCt	p.S299T		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	299					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CTTTTGCAGAGTGTTTTGCTA	0.299																																						uc001vly.2																			0				breast(1)	1						c.(895-897)AGT>ACT		G protein-coupled receptor 180 precursor							124.0	121.0	122.0					13																	95275364		2203	4300	6503	SO:0001630	splice_region_variant	160897					integral to membrane		g.chr13:95275364G>C	AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"""intimal thickness related receptor"""	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.895-1G>C	13.37:g.95275364G>C						GPR180_uc001vlz.2_Missense_Mutation_p.S198T|GPR180_uc010afi.2_Missense_Mutation_p.S60T	p.S299T	NM_180989	NP_851320	Q86V85	GP180_HUMAN			7	974	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		299			Helical; (Potential).		A8K1D5	Missense_Mutation	SNP	ENST00000376958.4	37	c.896G>C	CCDS9472.1	.	.	.	.	.	.	.	.	.	.	G	4.468	0.086658	0.08583	.	.	ENSG00000152749	ENST00000376958	T	0.42131	0.98	5.53	5.53	0.82687	Rhodopsin-like GPCR transmembrane domain (1);	0.092042	0.85682	D	0.000000	T	0.37705	0.1013	L	0.51422	1.61	0.40855	D	0.983786	B	0.17667	0.023	B	0.15052	0.012	T	0.15607	-1.0431	10	0.22706	T	0.39	-8.9835	14.3223	0.66493	0.0:0.0:0.8517:0.1483	.	299	Q86V85	GP180_HUMAN	T	299	ENSP00000366157:S299T	ENSP00000366157:S299T	S	+	2	0	GPR180	94073365	1.000000	0.71417	0.995000	0.50966	0.881000	0.50899	4.882000	0.63121	2.580000	0.87095	0.561000	0.74099	AGT		0.299	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3	NM_180989	Missense_Mutation
GZMB	3002	broad.mit.edu	37	14	25101153	25101153	+	Nonsense_Mutation	SNP	G	G	A	rs199605460		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:25101153G>A	ENST00000216341.4	-	4	617	c.511C>T	c.(511-513)Cga>Tga	p.R171*	GZMB_ENST00000415355.3_Nonsense_Mutation_p.R159*|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Nonsense_Mutation_p.R205*|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000526004.1_3'UTR|GZMB_ENST00000382540.1_Nonsense_Mutation_p.R126*			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	171	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R205*(1)|p.R171*(1)		endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TCGCACTTTCGATCTTCCTGC	0.517																																						uc001wps.2																			2	Substitution - Nonsense(2)		large_intestine(2)		0						c.(511-513)CGA>TGA		granzyme B precursor							161.0	151.0	154.0					14																	25101153		2203	4300	6503	SO:0001587	stop_gained	3002				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	g.chr14:25101153G>A	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"""fragmentin 2"", ""cytotoxic serine protease B"", ""cathepsin G-like 1"", ""T-cell serine protease 1-3E"""	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.511C>T	14.37:g.25101153G>A	ENSP00000216341:p.Arg171*					GZMB_uc010ama.2_Nonsense_Mutation_p.R159*|GZMB_uc010amb.2_RNA	p.R171*	NM_004131	NP_004122	P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	4	577	-			171			Peptidase S1.		Q8N1D2|Q9UCC1	Nonsense_Mutation	SNP	ENST00000216341.4	37	c.511C>T	CCDS9633.1	.	.	.	.	.	.	.	.	.	.	g	12.41	1.928929	0.34002	.	.	ENSG00000100453	ENST00000415355;ENST00000216341;ENST00000382542;ENST00000382540;ENST00000382539	.	.	.	5.3	-5.55	0.02536	.	1.857220	0.03740	N	0.254823	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	1.315	0.02105	0.2399:0.3664:0.1846:0.209	.	.	.	.	X	159;171;205;126;76	.	ENSP00000216341:R171X	R	-	1	2	GZMB	24170993	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.161000	0.01278	-1.007000	0.03408	-0.868000	0.02995	CGA		0.517	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131	
HEATR5A	25938	broad.mit.edu	37	14	31852819	31852835	+	Frame_Shift_Del	DEL	GTGAAGACTTATGTCCA	GTGAAGACTTATGTCCA	-	rs201904415	byFrequency	TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:31852819_31852835delGTGAAGACTTATGTCCA	ENST00000389961.3	-	9	1469_1485	c.1470_1486delTGGACATAAGTCTTCAC	c.(1468-1488)actggacataagtcttcacctfs	p.GHKSSP491fs	HEATR5A_ENST00000439727.1_Frame_Shift_Del_p.GHKSSP204fs|HEATR5A_ENST00000439348.1_Frame_Shift_Del_p.GHKSSP491fs|HEATR5A_ENST00000404677.3_Frame_Shift_Del_p.GHKSSP497fs|HEATR5A_ENST00000543095.2_Frame_Shift_Del_p.GHKSSP497fs			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	491								p.G491>?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ACTGCTTCAGGTGAAGACTTATGTCCAGTAAGCCGTT	0.461																																						uc001wrf.3																			1	Complex(1)		skin(1)	ovary(1)	1						c.(607-627)ACTGGACATAAGTCTTCACCTfs		HEAT repeat containing 5A																																				SO:0001589	frameshift_variant	25938						binding	g.chr14:31852819_31852835delGTGAAGACTTATGTCCA	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1470_1486delTGGACATAAGTCTTCAC	14.37:g.31852819_31852835delGTGAAGACTTATGTCCA	ENSP00000374611:p.Gly491fs					HEATR5A_uc010ami.2_Frame_Shift_Del_p.T101fs|HEATR5A_uc001wrg.1_Frame_Shift_Del_p.T85fs|HEATR5A_uc010tpk.1_Frame_Shift_Del_p.T496fs	p.T203fs	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	4	686_702	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		490_496					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Frame_Shift_Del	DEL	ENST00000389961.3	37	c.609_625delTGGACATAAGTCTTCAC																																																																																					0.461	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473	
NIN	51199	broad.mit.edu	37	14	51239167	51239167	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:51239167C>T	ENST00000382041.3	-	9	1023	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	NIN_ENST00000245441.5_Missense_Mutation_p.R278Q|NIN_ENST00000530997.2_Missense_Mutation_p.R278Q|NIN_ENST00000382043.4_Missense_Mutation_p.R278Q|NIN_ENST00000453196.1_Missense_Mutation_p.R278Q|NIN_ENST00000389868.3_Missense_Mutation_p.R278Q|NIN_ENST00000324330.9_Missense_Mutation_p.R278Q	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	278					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGTGGTACGTCGTCCACTCTC	0.498			T	PDGFRB	MPD																																	uc001wym.2				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(832-834)CGA>CAA		ninein isoform 5							100.0	79.0	86.0					14																	51239167		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51239167C>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.833G>A	14.37:g.51239167C>T	ENSP00000371472:p.Arg278Gln					NIN_uc001wyi.2_Missense_Mutation_p.R278Q|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.R278Q|NIN_uc010tqp.1_Missense_Mutation_p.R284Q|NIN_uc001wyo.2_Missense_Mutation_p.R278Q|NIN_uc001wyp.1_Missense_Mutation_p.R240Q	p.R278Q	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			9	1024	-	all_epithelial(31;0.00244)|Breast(41;0.127)		278					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.833G>A	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958419	0.92726	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.65	5.65	0.86999	EF-hand-like domain (1);	0.052990	0.64402	D	0.000001	T	0.48943	0.1528	L	0.56769	1.78	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;0.999;0.997;0.994;0.99	T	0.21211	-1.0252	10	0.34782	T	0.22	-12.3615	18.7058	0.91637	0.0:1.0:0.0:0.0	.	284;278;278;278;278	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	Q	278;278;278;278;284;278;278;278;240	ENSP00000245441:R278Q;ENSP00000374518:R278Q;ENSP00000371474:R278Q;ENSP00000371472:R278Q;ENSP00000324210:R278Q;ENSP00000412391:R278Q;ENSP00000398641:R240Q	ENSP00000245441:R278Q	R	-	2	0	NIN	50308917	0.999000	0.42202	0.977000	0.42913	0.733000	0.41908	7.437000	0.80417	2.670000	0.90874	0.563000	0.77884	CGA		0.498	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	
SMEK1	55671	broad.mit.edu	37	14	91948148	91948148	+	Silent	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:91948148A>G	ENST00000554943.1	-	4	802	c.687T>C	c.(685-687)gcT>gcC	p.A229A	SMEK1_ENST00000554684.1_Silent_p.A229A|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000337238.4_Silent_p.A229A			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	229					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GTTGTGATAAAGCAGGATCAT	0.353																																						uc001xzn.2																			0					0						c.(685-687)GCT>GCC		SMEK homolog 1, suppressor of mek1							159.0	148.0	152.0					14																	91948148		2203	4300	6503	SO:0001819	synonymous_variant	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91948148A>G	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.687T>C	14.37:g.91948148A>G						SMEK1_uc001xzm.2_Silent_p.A229A|SMEK1_uc001xzo.2_Silent_p.A229A|SMEK1_uc010atz.2_Intron|SMEK1_uc001xzp.1_RNA|SMEK1_uc001xzq.1_Silent_p.A105A	p.A229A	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	4	1509	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	229					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Silent	SNP	ENST00000554943.1	37	c.687T>C		.	.	.	.	.	.	.	.	.	.	A	9.411	1.080612	0.20309	.	.	ENSG00000100796	ENST00000555470	.	.	.	6.03	4.86	0.63082	.	.	.	.	.	T	0.65101	0.2659	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62807	-0.6776	4	.	.	.	-8.9744	12.5499	0.56222	0.8752:0.0:0.0:0.1248	.	.	.	.	L	24	.	.	F	-	1	0	SMEK1	91017901	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.024000	0.41049	1.053000	0.40415	0.533000	0.62120	TTT		0.353	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560	
NPAP1	23742	broad.mit.edu	37	15	24921847	24921847	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:24921847C>T	ENST00000329468.2	+	1	1307	c.833C>T	c.(832-834)gCg>gTg	p.A278V		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	278					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AAGTTGGCTGCGGAAGTGCTG	0.602																																						uc001ywo.2																			0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(832-834)GCG>GTG		hypothetical protein LOC23742							38.0	40.0	39.0					15																	24921847		2203	4299	6502	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921847C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.833C>T	15.37:g.24921847C>T	ENSP00000333735:p.Ala278Val						p.A278V	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1307	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	278						Missense_Mutation	SNP	ENST00000329468.2	37	c.833C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	8.149	0.787038	0.16189	.	.	ENSG00000185823	ENST00000329468	T	0.12147	2.71	2.07	-4.13	0.03904	.	3.581510	0.01020	N	0.003964	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	B	0.34255	0.445	B	0.25614	0.062	T	0.14839	-1.0458	10	0.20046	T	0.44	.	1.0595	0.01597	0.2648:0.3968:0.1472:0.1913	.	278	Q9NZP6	CO002_HUMAN	V	278	ENSP00000333735:A278V	ENSP00000333735:A278V	A	+	2	0	C15orf2	22472940	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.050000	0.11904	-1.269000	0.02436	-1.963000	0.00474	GCG		0.602	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
MAPKBP1	23005	broad.mit.edu	37	15	42109162	42109162	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:42109162C>T	ENST00000456763.2	+	15	1854	c.1658C>T	c.(1657-1659)gCc>gTc	p.A553V	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.A430V|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A386V|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A547V|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.A547V	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	553										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GTGCTGGATGCCGGGCGGGAG	0.582																																						uc001zok.3																			0				central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(1657-1659)GCC>GTC		mitogen-activated protein kinase binding protein							94.0	93.0	93.0					15																	42109162		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42109162C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1658C>T	15.37:g.42109162C>T	ENSP00000393099:p.Ala553Val					MAPKBP1_uc001zoj.3_Missense_Mutation_p.A547V|MAPKBP1_uc010bcj.2_Missense_Mutation_p.A54V|MAPKBP1_uc010bci.2_Missense_Mutation_p.A547V|MAPKBP1_uc010udb.1_Missense_Mutation_p.A386V|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.A54V	p.A553V	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	15	1944	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	553			WD 8.		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1658C>T	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	c	15.92	2.976480	0.53720	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.63580	1.72;1.72;1.1;-0.05;1.1	5.63	4.72	0.59763	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	N	0.03881	-0.34	0.53005	D	0.999962	P;B;P;P;B	0.51537	0.946;0.146;0.909;0.879;0.207	P;B;P;P;B	0.55667	0.781;0.31;0.481;0.766;0.171	T	0.49881	-0.8892	10	0.02654	T	1	-11.123	14.5252	0.67884	0.0:0.9302:0.0:0.0698	.	386;430;547;553;547	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	V	547;430;386;553;547	ENSP00000397570:A547V;ENSP00000221214:A430V;ENSP00000260357:A386V;ENSP00000393099:A553V;ENSP00000426154:A547V	ENSP00000221214:A430V	A	+	2	0	MAPKBP1	39896454	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	4.962000	0.63687	1.390000	0.46547	-0.136000	0.14681	GCC		0.582	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	
TLN2	83660	broad.mit.edu	37	15	63127965	63127965	+	Silent	SNP	C	C	T	rs139730009		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:63127965C>T	ENST00000561311.1	+	55	7388	c.7158C>T	c.(7156-7158)gaC>gaT	p.D2386D	RP11-1069G10.1_ENST00000558404.1_RNA|RP11-1069G10.1_ENST00000558888.1_RNA|TLN2_ENST00000306829.6_Silent_p.D2386D			Q9Y4G6	TLN2_HUMAN	talin 2	2386	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D2386D(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ATGCTGCAGACGACGGACAGT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		20476	0.0		0.001	False		,,,				2504	0.0					uc002alb.3																			1	Substitution - coding silent(1)		large_intestine(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(7156-7158)GAC>GAT		talin 2		C		0,4406		0,0,2203	191.0	194.0	193.0		7158	-2.9	0.9	15	dbSNP_134	193	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	TLN2	NM_015059.2		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384		2386/2543	63127965	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63127965C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7158C>T	15.37:g.63127965C>T						TLN2_uc002alc.3_Silent_p.D779D|TLN2_uc010uic.1_Translation_Start_Site|uc002ale.1_5'Flank	p.D2386D	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			53	7158	+			2386			I/LWEQ.		A6NLB8	Silent	SNP	ENST00000561311.1	37	c.7158C>T	CCDS32261.1																																																																																				0.597	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
SV2B	9899	broad.mit.edu	37	15	91811770	91811770	+	Silent	SNP	C	C	T	rs140230861		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:91811770C>T	ENST00000394232.1	+	9	1778	c.1308C>T	c.(1306-1308)taC>taT	p.Y436Y	SV2B_ENST00000545111.2_Silent_p.Y285Y|SV2B_ENST00000330276.4_Silent_p.Y436Y	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	436					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AGCATGTGTACGGCGCCACAA	0.418																																						uc002bqv.2																			0				ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1306-1308)TAC>TAT		synaptic vesicle protein 2B homolog		C	,	0,4396		0,0,2198	154.0	147.0	149.0		855,1308	-11.0	0.7	15	dbSNP_134	149	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	SV2B	NM_001167580.1,NM_014848.4	,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,	285/533,436/684	91811770	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91811770C>T	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1308C>T	15.37:g.91811770C>T						SV2B_uc002bqt.2_Silent_p.Y436Y|SV2B_uc010uqv.1_Silent_p.Y285Y|SV2B_uc002bqu.3_RNA	p.Y436Y	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		8	1699	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		436			Extracellular (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	c.1308C>T	CCDS10370.1																																																																																				0.418	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848	
CREBBP	1387	broad.mit.edu	37	16	3820625	3820625	+	Silent	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr16:3820625A>G	ENST00000262367.5	-	14	3635	c.2826T>C	c.(2824-2826)ccT>ccC	p.P942P	CREBBP_ENST00000382070.3_Silent_p.P904P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	942					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCGATGACTGAGGGGTAGCCA	0.627			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(2824-2826)CCT>CCC		CREB binding protein isoform a							94.0	115.0	108.0					16																	3820625		2197	4300	6497	SO:0001819	synonymous_variant	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3820625A>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2826T>C	16.37:g.3820625A>G						CREBBP_uc002cvw.2_Silent_p.P904P	p.P942P	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	14	3030	-		Ovarian(90;0.0266)	942					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.2826T>C	CCDS10509.1																																																																																				0.627	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
ATXN2L	11273	broad.mit.edu	37	16	28844550	28844550	+	Silent	SNP	A	A	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr16:28844550A>T	ENST00000336783.4	+	14	1997	c.1830A>T	c.(1828-1830)ccA>ccT	p.P610P	ATXN2L_ENST00000340394.8_Silent_p.P610P|ATXN2L_ENST00000325215.6_Silent_p.P610P|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000570200.1_Silent_p.P610P|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Silent_p.P610P|ATXN2L_ENST00000564304.1_Silent_p.P616P|ATXN2L_ENST00000382686.4_Silent_p.P610P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	610					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGACAAACCACCCCTGGCAC	0.592																																						uc002drc.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1828-1830)CCA>CCT		ataxin 2 related protein isoform A							71.0	73.0	72.0					16																	28844550		2197	4300	6497	SO:0001819	synonymous_variant	11273					membrane		g.chr16:28844550A>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1830A>T	16.37:g.28844550A>T						uc010vct.1_Intron|ATXN2L_uc010byl.1_Silent_p.P586P|ATXN2L_uc002drb.2_Silent_p.P610P|ATXN2L_uc002dqy.2_Silent_p.P610P|ATXN2L_uc002dra.2_Silent_p.P610P|ATXN2L_uc002dqz.2_Silent_p.P610P|ATXN2L_uc010vdb.1_Silent_p.P616P|ATXN2L_uc002dre.2_Silent_p.P610P|ATXN2L_uc002drf.2_Silent_p.P19P|ATXN2L_uc002drg.2_5'Flank	p.P610P	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN			14	1998	+			610					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	ENST00000336783.4	37	c.1830A>T	CCDS10641.1																																																																																				0.592	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245	
DRC7	84229	broad.mit.edu	37	16	57741548	57741548	+	Silent	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr16:57741548G>A	ENST00000360716.3	+	8	1256	c.1035G>A	c.(1033-1035)aaG>aaA	p.K345K	CCDC135_ENST00000336825.8_Silent_p.K280K|CCDC135_ENST00000394337.4_Silent_p.K345K			Q8IY82	CC135_HUMAN		345					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGAACCACAAGAACTACTGGA	0.552																																						uc002emi.2																			0				central_nervous_system(1)	1						c.(1033-1035)AAG>AAA		coiled-coil domain containing 135							86.0	67.0	73.0					16																	57741548		2196	4298	6494	SO:0001819	synonymous_variant	84229					cytoplasm		g.chr16:57741548G>A																												ENST00000360716.3:c.1035G>A	16.37:g.57741548G>A						CCDC135_uc002emj.2_Silent_p.K345K|CCDC135_uc002emk.2_Silent_p.K280K	p.K345K	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			7	1124	+			345					A8K943|Q8NAA0|Q9H080	Silent	SNP	ENST00000360716.3	37	c.1035G>A	CCDS10787.1																																																																																				0.552	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2		
GUCY2D	3000	broad.mit.edu	37	17	7909994	7909994	+	Missense_Mutation	SNP	C	C	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr17:7909994C>G	ENST00000254854.4	+	4	1490	c.1340C>G	c.(1339-1341)cCc>cGc	p.P447R		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	447					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				GGACCTGACCCCTCGTGCTGG	0.612																																						uc002gjt.2																			0				skin(1)	1						c.(1339-1341)CCC>CGC		guanylate cyclase 2D, membrane (retina-specific)							21.0	21.0	21.0					17																	7909994		2203	4300	6503	SO:0001583	missense	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7909994C>G	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1340C>G	17.37:g.7909994C>G	ENSP00000254854:p.Pro447Arg						p.P447R	NM_000180	NP_000171	Q02846	GUC2D_HUMAN			4	1414	+		Prostate(122;0.157)	447			Extracellular (Potential).		Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	c.1340C>G	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534696	0.64972	.	.	ENSG00000132518	ENST00000254854	D	0.86956	-2.19	5.15	5.15	0.70609	.	0.000000	0.43110	D	0.000609	D	0.86243	0.5886	M	0.68317	2.08	0.37606	D	0.920766	P	0.43826	0.818	B	0.38106	0.265	D	0.90334	0.4354	10	0.87932	D	0	.	17.3912	0.87431	0.0:1.0:0.0:0.0	.	447	Q02846	GUC2D_HUMAN	R	447	ENSP00000254854:P447R	ENSP00000254854:P447R	P	+	2	0	GUCY2D	7850719	0.980000	0.34600	0.026000	0.17262	0.227000	0.25037	3.347000	0.52200	2.401000	0.81631	0.561000	0.74099	CCC		0.612	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2		
HS3ST3A1	9955	broad.mit.edu	37	17	13400013	13400013	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr17:13400013A>G	ENST00000284110.1	-	2	1519	c.722T>C	c.(721-723)gTg>gCg	p.V241A	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.V39A	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	241					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTCCCGCACCACCACGATGAG	0.632																																						uc002gob.1																			0				ovary(1)|central_nervous_system(1)	2						c.(721-723)GTG>GCG		heparan sulfate D-glucosaminyl							38.0	52.0	47.0					17																	13400013		2202	4298	6500	SO:0001583	missense	9955					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:13400013A>G	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.722T>C	17.37:g.13400013A>G	ENSP00000284110:p.Val241Ala						p.V241A	NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	2	1520	-		all_lung(20;0.114)	241			Lumenal (Potential).		A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	c.722T>C	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.516431	0.85495	.	.	ENSG00000153976	ENST00000284110	D	0.85484	-1.99	5.32	4.22	0.49857	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000002	D	0.94335	0.8179	H	0.96518	3.835	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.95182	0.8300	10	0.87932	D	0	.	12.6546	0.56780	0.8615:0.1385:0.0:0.0	.	241	Q9Y663	HS3SA_HUMAN	A	241	ENSP00000284110:V241A	ENSP00000284110:V241A	V	-	2	0	HS3ST3A1	13340738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.193000	0.94954	1.085000	0.41206	0.460000	0.39030	GTG		0.632	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042	
MRC2	9902	broad.mit.edu	37	17	60757258	60757258	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr17:60757258G>A	ENST00000303375.5	+	14	2695	c.2293G>A	c.(2293-2295)Gta>Ata	p.V765I	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	765	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GAGCGACGGCGTAGGGGTGAG	0.662																																						uc002jad.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2293-2295)GTA>ATA		mannose receptor, C type 2							23.0	23.0	23.0					17																	60757258		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60757258G>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2293G>A	17.37:g.60757258G>A	ENSP00000307513:p.Val765Ile					MRC2_uc010ddq.1_RNA|MRC2_uc002jae.2_5'Flank|MRC2_uc002jaf.2_5'Flank	p.V765I	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			14	2695	+			765			Extracellular (Potential).|C-type lectin 4.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.2293G>A	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421912	0.25639	.	.	ENSG00000011028	ENST00000303375	T	0.07908	3.15	4.74	0.269	0.15631	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.435759	0.22843	N	0.054944	T	0.06050	0.0157	L	0.39898	1.24	0.09310	N	0.999997	B	0.25235	0.121	B	0.15484	0.013	T	0.29488	-1.0010	10	0.44086	T	0.13	-2.1216	5.9314	0.19140	0.0:0.5052:0.2569:0.2378	.	765	Q9UBG0	MRC2_HUMAN	I	765	ENSP00000307513:V765I	ENSP00000307513:V765I	V	+	1	0	MRC2	58110990	0.212000	0.23540	0.001000	0.08648	0.294000	0.27393	0.570000	0.23653	-0.058000	0.13177	-0.731000	0.03576	GTA		0.662	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1		
ARHGAP28	79822	broad.mit.edu	37	18	6894892	6894892	+	Splice_Site	SNP	T	T	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:6894892T>C	ENST00000383472.4	+	15	2009		c.e15+2		ARHGAP28_ENST00000418986.1_Splice_Site|ARHGAP28_ENST00000314319.3_Splice_Site|ARHGAP28_ENST00000419673.2_Splice_Site|ARHGAP28_ENST00000532996.1_Splice_Site|ARHGAP28_ENST00000400091.2_Splice_Site|ARHGAP28_ENST00000262227.3_Splice_Site|ARHGAP28_ENST00000531294.1_Splice_Site			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AGACGAATGGTAAGAAAAATA	0.383																																						uc010wzi.1																			0				pancreas(1)	1						c.e14+2		SubName: Full=Putative uncharacterized protein ARHGAP28;							114.0	109.0	111.0					18																	6894892		2203	4300	6503	SO:0001630	splice_region_variant	79822				signal transduction	intracellular		g.chr18:6894892T>C	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1905+2T>C	18.37:g.6894892T>C						ARHGAP28_uc002knc.2_Splice_Site_p.M583_splice|ARHGAP28_uc002knd.2_Splice_Site_p.M476_splice|ARHGAP28_uc002kne.2_Splice_Site_p.M476_splice|ARHGAP28_uc002knf.2_Splice_Site_p.M467_splice	p.M458_splice			B4DXL2	B4DXL2_HUMAN			14	1612	+		Colorectal(10;0.168)						A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Splice_Site	SNP	ENST00000383472.4	37	c.1374_splice		.	.	.	.	.	.	.	.	.	.	T	18.69	3.678306	0.68042	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9461	0.47301	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP28	6884892	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.963000	0.40452	2.148000	0.66965	0.533000	0.62120	.		0.383	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108	Intron
MTCL1	23255	broad.mit.edu	37	18	8783917	8783917	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:8783917G>C	ENST00000306329.11	+	5	1887	c.1887G>C	c.(1885-1887)gaG>gaC	p.E629D	SOGA2_ENST00000517570.1_Missense_Mutation_p.E269D|SOGA2_ENST00000359865.3_Missense_Mutation_p.E269D|SOGA2_ENST00000400050.3_Missense_Mutation_p.E269D|SOGA2_ENST00000306285.7_5'UTR																							ACTCCCTGGAGTCCTCCACTG	0.637																																						uc002knr.2																			0					0						c.(805-807)GAG>GAC		hypothetical protein LOC23255							70.0	75.0	73.0					18																	8783917		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8783917G>C																												ENST00000306329.11:c.1887G>C	18.37:g.8783917G>C	ENSP00000305027:p.Glu629Asp					KIAA0802_uc002knq.2_Missense_Mutation_p.E269D|KIAA0802_uc010dkw.1_Missense_Mutation_p.E107D	p.E269D	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			6	949	+			620			Potential.			Missense_Mutation	SNP	ENST00000306329.11	37	c.807G>C		.	.	.	.	.	.	.	.	.	.	G	8.360	0.832831	0.16820	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.23348	1.91;1.97;1.91	5.81	3.71	0.42584	.	0.000000	0.56097	D	0.000035	T	0.36026	0.0952	M	0.68952	2.095	0.80722	D	1	D;P	0.54047	0.964;0.955	P;P	0.52627	0.704;0.579	T	0.10520	-1.0626	10	0.30078	T	0.28	-24.0984	11.0888	0.48104	0.2192:0.0:0.7808:0.0	.	290;269	A8MQ54;Q9Y4B5-3	.;.	D	290;269;269;269	ENSP00000429556:E269D;ENSP00000352927:E269D;ENSP00000382924:E269D	ENSP00000305027:E290D	E	+	3	2	CCDC165	8773917	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	2.410000	0.44592	1.466000	0.48025	0.650000	0.86243	GAG		0.637	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1		
CIDEA	1149	broad.mit.edu	37	18	12274219	12274219	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:12274219A>T	ENST00000320477.9	+	4	523	c.458A>T	c.(457-459)gAg>gTg	p.E153V	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	153					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						ACCATGTATGAGATGTACTCC	0.587																																						uc002kqt.3																			0				ovary(1)|central_nervous_system(1)	2						c.(457-459)GAG>GTG		cell death-inducing DFFA-like effector a isoform							146.0	116.0	126.0					18																	12274219		2203	4300	6503	SO:0001583	missense	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12274219A>T	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.458A>T	18.37:g.12274219A>T	ENSP00000320209:p.Glu153Val					CIDEA_uc002kqu.3_Missense_Mutation_p.E187V|CIDEA_uc010dlc.2_RNA	p.E153V	NM_001279	NP_001270	O60543	CIDEA_HUMAN			4	523	+			153					B0YIY7|Q6UPR7	Missense_Mutation	SNP	ENST00000320477.9	37	c.458A>T	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.674875	0.67928	.	.	ENSG00000176194	ENST00000320477	T	0.79554	-1.28	5.31	4.15	0.48705	.	0.000000	0.85682	D	0.000000	D	0.87974	0.6313	M	0.74881	2.28	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.87729	0.2578	10	0.66056	D	0.02	-43.5708	10.7819	0.46382	0.9245:0.0:0.0755:0.0	.	187;153	Q8N5P9;O60543	.;CIDEA_HUMAN	V	153	ENSP00000320209:E153V	ENSP00000320209:E153V	E	+	2	0	CIDEA	12264219	1.000000	0.71417	0.995000	0.50966	0.771000	0.43674	1.827000	0.39102	0.873000	0.35799	0.533000	0.62120	GAG		0.587	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279	
DSC1	1823	broad.mit.edu	37	18	28736015	28736015	+	Silent	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:28736015G>A	ENST00000257198.5	-	4	723	c.462C>T	c.(460-462)caC>caT	p.H154H	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Silent_p.H154H	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	154	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCTGCTGAACGTGTTGTGGAA	0.403																																						uc002kwn.2																			0				ovary(3)|skin(1)	4						c.(460-462)CAC>CAT		desmocollin 1 isoform Dsc1a preproprotein							127.0	105.0	113.0					18																	28736015		2203	4300	6503	SO:0001819	synonymous_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28736015G>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.462C>T	18.37:g.28736015G>A						DSC1_uc002kwm.2_Silent_p.H154H	p.H154H	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		4	724	-			154			Cadherin 1.|Extracellular (Potential).		Q9HB01	Silent	SNP	ENST00000257198.5	37	c.462C>T	CCDS11894.1																																																																																				0.403	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421	
DCC	1630	broad.mit.edu	37	18	50977004	50977004	+	Missense_Mutation	SNP	A	A	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:50977004A>C	ENST00000442544.2	+	23	3980	c.3364A>C	c.(3364-3366)Acc>Ccc	p.T1122P	DCC_ENST00000581580.1_Missense_Mutation_p.T757P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1122					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTGATTTGCACCCGACGCTC	0.483																																						uc002lfe.1																			0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(3364-3366)ACC>CCC		netrin receptor DCC precursor							115.0	93.0	100.0					18																	50977004		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50977004A>C	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3364A>C	18.37:g.50977004A>C	ENSP00000389140:p.Thr1122Pro					DCC_uc010dpf.1_Missense_Mutation_p.T757P	p.T1122P	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	23	3951	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1122			Helical; (Potential).			Missense_Mutation	SNP	ENST00000442544.2	37	c.3364A>C	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.582666	0.46006	.	.	ENSG00000187323	ENST00000442544	T	0.53423	0.62	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	L	0.58101	1.795	0.53688	D	0.999975	D	0.76494	0.999	D	0.72982	0.979	T	0.61783	-0.6992	10	0.35671	T	0.21	-11.4467	14.8996	0.70670	1.0:0.0:0.0:0.0	.	1122	P43146	DCC_HUMAN	P	1122	ENSP00000389140:T1122P	ENSP00000389140:T1122P	T	+	1	0	DCC	49231002	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.888000	0.75622	2.168000	0.68352	0.528000	0.53228	ACC		0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
ZFR2	23217	broad.mit.edu	37	19	3825268	3825268	+	Silent	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:3825268C>T	ENST00000262961.4	-	7	1183	c.1173G>A	c.(1171-1173)gcG>gcA	p.A391A		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	391							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCTTGGCCAGCGCTGGCCTGC	0.672																																						uc002lyw.2																			0				central_nervous_system(1)|pancreas(1)	2						c.(1171-1173)GCG>GCA		zinc finger RNA binding protein 2 isoform 1																																				SO:0001819	synonymous_variant	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3825268C>T	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1173G>A	19.37:g.3825268C>T						ZFR2_uc010xhx.1_Intron	p.A391A	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	7	1185	-			391						Silent	SNP	ENST00000262961.4	37	c.1173G>A	CCDS45921.1																																																																																				0.672	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174	
INSR	3643	broad.mit.edu	37	19	7184472	7184472	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:7184472C>T	ENST00000302850.5	-	3	971	c.829G>A	c.(829-831)Gac>Aac	p.D277N	INSR_ENST00000341500.5_Missense_Mutation_p.D277N	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	277	Cys-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CAGCGCCAGTCCTGGAAGTGG	0.602																																						uc002mgd.1																			0				ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(829-831)GAC>AAC		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						68.0	56.0	60.0					19																	7184472		2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7184472C>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.829G>A	19.37:g.7184472C>T	ENSP00000303830:p.Asp277Asn					INSR_uc002mge.1_Missense_Mutation_p.D277N|INSR_uc002mgf.2_Missense_Mutation_p.D277N	p.D277N	NM_000208	NP_000199	P06213	INSR_HUMAN			3	938	-			277			Cys-rich.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.829G>A	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.868051	0.51588	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.97066	-4.23;-4.23	5.01	5.01	0.66863	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.134911	0.33217	N	0.005152	D	0.92198	0.7526	N	0.11927	0.2	0.42558	D	0.993133	B;B;B	0.12630	0.006;0.003;0.003	B;B;B	0.15870	0.014;0.013;0.014	D	0.88955	0.3389	10	0.23891	T	0.37	.	15.8361	0.78799	0.0:1.0:0.0:0.0	.	268;277;277	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	N	277	ENSP00000303830:D277N;ENSP00000342838:D277N	ENSP00000303830:D277N	D	-	1	0	INSR	7135472	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.731000	0.68554	2.319000	0.78375	0.655000	0.94253	GAC		0.602	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1		
RAB11B	9230	broad.mit.edu	37	19	8468383	8468383	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:8468383G>A	ENST00000328024.6	+	5	816	c.598G>A	c.(598-600)Gtg>Atg	p.V200M		NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	200					cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(1)|ovary(1)	4						GGACATCAGCGTGCCGCCCAC	0.647																																						uc002mju.3																			0					0						c.(598-600)GTG>ATG		RAB11B, member RAS oncogene family							126.0	107.0	113.0					19																	8468383		2203	4300	6503	SO:0001583	missense	9230				cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr19:8468383G>A	X79780	CCDS12201.1	19p13.2	2012-07-02			ENSG00000185236	ENSG00000185236		"""RAB, member RAS oncogene"""	9761	protein-coding gene	gene with protein product		604198				7811277	Standard	NM_004218		Approved	H-YPT3	uc002mju.4	Q15907		ENST00000328024.6:c.598G>A	19.37:g.8468383G>A	ENSP00000333547:p.Val200Met						p.V200M	NM_004218	NP_004209	Q15907	RB11B_HUMAN			5	694	+			200					A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Missense_Mutation	SNP	ENST00000328024.6	37	c.598G>A	CCDS12201.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.769047	0.31320	.	.	ENSG00000185236	ENST00000328024	T	0.63417	-0.04	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	N	0.19112	0.55	0.54753	D	0.999989	B	0.32010	0.351	B	0.25759	0.063	T	0.53627	-0.8412	10	0.72032	D	0.01	.	17.7147	0.88332	0.0:0.0:1.0:0.0	.	200	Q15907	RB11B_HUMAN	M	200	ENSP00000333547:V200M	ENSP00000333547:V200M	V	+	1	0	RAB11B	8374383	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	5.332000	0.65911	2.763000	0.94921	0.655000	0.94253	GTG		0.647	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460343.2	NM_004218	
ZNF527	84503	broad.mit.edu	37	19	37879435	37879435	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:37879435G>C	ENST00000436120.2	+	5	591	c.484G>C	c.(484-486)Gac>Cac	p.D162H	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGGAAAAGAGACAATGAATT	0.378																																						uc010efk.1																			0				ovary(2)	2						c.(484-486)GAC>CAC		zinc finger protein 527							86.0	81.0	83.0					19																	37879435		1828	4084	5912	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37879435G>C	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.484G>C	19.37:g.37879435G>C	ENSP00000390179:p.Asp162His					ZNF527_uc002ogf.3_Missense_Mutation_p.D130H|ZNF527_uc010xtq.1_RNA	p.D162H	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	595	+			162					B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.484G>C	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.253292	0.00268	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.04	-2.49	0.06403	.	.	.	.	.	T	0.27349	0.0671	L	0.29908	0.895	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.23726	-1.0180	8	0.59425	D	0.04	.	7.4174	0.27053	0.1743:0.3572:0.4686:0.0	.	162;130	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	H	162;130;110	.	ENSP00000325231:D130H	D	+	1	0	ZNF527	42571275	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.018000	0.12568	-0.563000	0.06078	-2.479000	0.00199	GAC		0.378	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453	
EHD3	30845	broad.mit.edu	37	2	31467312	31467312	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:31467312A>T	ENST00000322054.5	+	2	685	c.400A>T	c.(400-402)Aac>Tac	p.N134Y	EHD3_ENST00000541626.1_Missense_Mutation_p.N134Y	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	134	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CGCCTTCTTGAACAGGTGAGT	0.537																																						uc002rnu.2																			0				skin(2)	2						c.(400-402)AAC>TAC		EH-domain containing 3							108.0	86.0	94.0					2																	31467312		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31467312A>T	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.400A>T	2.37:g.31467312A>T	ENSP00000327116:p.Asn134Tyr					EHD3_uc010ymt.1_Missense_Mutation_p.N134Y	p.N134Y	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			2	1008	+	Acute lymphoblastic leukemia(172;0.155)		134					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.400A>T	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.637663	0.87760	.	.	ENSG00000013016	ENST00000541626;ENST00000322054	D;D	0.96967	-4.19;-4.19	5.7	5.7	0.88788	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.76071	0.987;0.973	D	0.99686	1.1000	10	0.87932	D	0	-50.2284	15.9765	0.80071	1.0:0.0:0.0:0.0	.	134;134	B4DFR5;Q9NZN3	.;EHD3_HUMAN	Y	134	ENSP00000440685:N134Y;ENSP00000327116:N134Y	ENSP00000327116:N134Y	N	+	1	0	EHD3	31320816	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.962000	0.93254	2.172000	0.68678	0.533000	0.62120	AAC		0.537	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600	
BIRC6	57448	broad.mit.edu	37	2	32774411	32774411	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:32774411G>A	ENST00000421745.2	+	65	13141	c.13007G>A	c.(13006-13008)aGt>aAt	p.S4336N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4336					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCCGTCAGTAGTGCGGTAAAT	0.398																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(13006-13008)AGT>AAT		baculoviral IAP repeat-containing 6							136.0	123.0	127.0					2																	32774411		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32774411G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13007G>A	2.37:g.32774411G>A	ENSP00000393596:p.Ser4336Asn						p.S4336N	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			65	13141	+	Acute lymphoblastic leukemia(172;0.155)		4336					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13007G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	8.999	0.979535	0.18812	.	.	ENSG00000115760	ENST00000421745	T	0.74526	-0.85	5.67	5.67	0.87782	.	0.306960	0.35407	N	0.003231	T	0.60805	0.2297	N	0.14661	0.345	0.41513	D	0.988354	B	0.17667	0.023	B	0.18263	0.021	T	0.56038	-0.8045	10	0.15066	T	0.55	.	19.7806	0.96414	0.0:0.0:1.0:0.0	.	4336	Q9NR09	BIRC6_HUMAN	N	4336	ENSP00000393596:S4336N	ENSP00000393596:S4336N	S	+	2	0	BIRC6	32627915	1.000000	0.71417	0.672000	0.29872	0.163000	0.22366	7.235000	0.78143	2.669000	0.90835	0.650000	0.86243	AGT		0.398	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
TUBA3D	113457	broad.mit.edu	37	2	132237806	132237806	+	Silent	SNP	C	C	T	rs544741714		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:132237806C>T	ENST00000321253.6	+	4	647	c.540C>T	c.(538-540)gcC>gcT	p.A180A	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	180					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TCTCCACAGCCGTGGTGGAGC	0.547													.|||	1	0.000199681	0.0	0.0	5008	,	,		19829	0.0		0.0	False		,,,				2504	0.001				Ovarian(137;2059 2432 35543 39401)	uc002tsu.3																			0					0						c.(538-540)GCC>GCT		tubulin, alpha 3d							146.0	161.0	156.0					2																	132237806		2202	4299	6501	SO:0001819	synonymous_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237806C>T	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.540C>T	2.37:g.132237806C>T							p.A180A	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	647	+			180					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	c.540C>T	CCDS33290.1																																																																																				0.547	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386	
LY75	4065	broad.mit.edu	37	2	160729003	160729003	+	Silent	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:160729003A>G	ENST00000263636.4	-	13	2103	c.2076T>C	c.(2074-2076)gaT>gaC	p.D692D	LY75-CD302_ENST00000505052.1_Silent_p.D692D|LY75_ENST00000554112.1_Silent_p.D692D|LY75_ENST00000553424.1_Silent_p.D692D|LY75-CD302_ENST00000504764.1_Silent_p.D692D	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	692	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.		D -> N (in dbSNP:rs1397706).		endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CCTTTATTTCATCCACATGGC	0.378																																						uc002ubc.3																			0					0						c.(2074-2076)GAT>GAC		lymphocyte antigen 75 precursor							122.0	132.0	129.0					2																	160729003		2203	4300	6503	SO:0001819	synonymous_variant	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160729003A>G	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2076T>C	2.37:g.160729003A>G						LY75_uc002ubb.3_Silent_p.D692D|LY75_uc010fos.2_Silent_p.D692D|LY75_uc010fot.1_Silent_p.D692D	p.D692D	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	13	2145	-			692			Extracellular (Potential).|C-type lectin 4.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	c.2076T>C	CCDS2211.1																																																																																				0.378	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		
LRP2	4036	broad.mit.edu	37	2	170009391	170009391	+	Missense_Mutation	SNP	G	G	A	rs148356370	byFrequency	TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:170009391G>A	ENST00000263816.3	-	67	12664	c.12379C>T	c.(12379-12381)Cgc>Tgc	p.R4127C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4127					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGATTATTGCGGCCGGATTCA	0.468																																						uc002ues.2																			0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(12379-12381)CGC>TGC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						239.0	237.0	238.0					2																	170009391		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170009391G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12379C>T	2.37:g.170009391G>A	ENSP00000263816:p.Arg4127Cys						p.R4127C	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	67	12592	-			4127			Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.12379C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161419	0.38119	.	.	ENSG00000081479	ENST00000263816	D	0.91521	-2.86	5.59	-0.88	0.10610	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.630193	0.18293	N	0.145670	T	0.82222	0.4990	L	0.29908	0.895	0.09310	N	0.999991	D	0.56521	0.976	B	0.43783	0.431	T	0.75374	-0.3340	10	0.56958	D	0.05	.	5.9763	0.19382	0.0:0.3868:0.2462:0.367	.	4127	P98164	LRP2_HUMAN	C	4127	ENSP00000263816:R4127C	ENSP00000263816:R4127C	R	-	1	0	LRP2	169717637	0.020000	0.18652	0.000000	0.03702	0.334000	0.28698	1.806000	0.38892	-0.419000	0.07439	-0.262000	0.10625	CGC		0.468	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
PDE11A	50940	broad.mit.edu	37	2	178969184	178969184	+	Missense_Mutation	SNP	T	T	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:178969184T>C	ENST00000358450.4	-	2	105	c.7A>G	c.(7-9)Aag>Gag	p.K3E		NM_001077197.1	NP_001070665.1	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	0					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CTTGCCTGCTTCAGCATCTCC	0.408									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulr.2																			0				ovary(3)|large_intestine(1)	4						c.(7-9)AAG>GAG		phosphodiesterase 11A isoform 3							108.0	95.0	99.0					2																	178969184		1834	4093	5927	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178969184T>C	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000358450.4:c.7A>G	2.37:g.178969184T>C	ENSP00000351232:p.Lys3Glu					PDE11A_uc002ult.1_Missense_Mutation_p.K3E	p.K3E	NM_001077197	NP_001070665	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		2	106	-			Error:Variant_position_missing_in_Q9HCR9_after_alignment					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000358450.4	37	c.7A>G	CCDS42785.1	.	.	.	.	.	.	.	.	.	.	T	4.159	0.028033	0.08054	.	.	ENSG00000128655	ENST00000358450	T	0.64438	-0.1	4.98	4.98	0.66077	.	.	.	.	.	T	0.55242	0.1908	.	.	.	0.80722	D	1	B	0.18310	0.027	B	0.16289	0.015	T	0.55309	-0.8161	8	0.56958	D	0.05	.	13.9991	0.64421	0.0:0.0:0.0:1.0	.	3	Q9HCR9-2	.	E	3	ENSP00000351232:K3E	ENSP00000351232:K3E	K	-	1	0	PDE11A	178677430	1.000000	0.71417	0.052000	0.19188	0.007000	0.05969	4.614000	0.61183	2.097000	0.63578	0.459000	0.35465	AAG		0.408	PDE11A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334314.2		
TTN	7273	broad.mit.edu	37	2	179442852	179442852	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:179442852G>A	ENST00000591111.1	-	272	63691	c.63467C>T	c.(63466-63468)cCg>cTg	p.P21156L	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13732L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P20229L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P22797L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13857L|RP11-171I2.5_ENST00000604215.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P13924L			Q8WZ42	TITIN_HUMAN	titin	21156	Fibronectin type-III 53. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCCTTATCGGAGTCTTGTT	0.418																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(60685-60687)CCG>CTG		titin isoform N2-A							149.0	139.0	142.0					2																	179442852		1893	4119	6012	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179442852G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63467C>T	2.37:g.179442852G>A	ENSP00000465570:p.Pro21156Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P13924L|TTN_uc010zfi.1_Missense_Mutation_p.P13857L|TTN_uc010zfj.1_Missense_Mutation_p.P13732L|uc002umv.1_5'Flank	p.P20229L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		271	60910	-			21156					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.60686C>T		.	.	.	.	.	.	.	.	.	.	G	13.61	2.289020	0.40494	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.92	5.92	0.95590	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63988	0.2558	L	0.28608	0.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.67231	0.95;0.95;0.95;0.95	T	0.65512	-0.6150	9	0.87932	D	0	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	13732;13857;13924;21156	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	20229;13732;13924;13857;13730	ENSP00000343764:P20229L;ENSP00000434586:P13732L;ENSP00000340554:P13924L;ENSP00000352154:P13857L	ENSP00000340554:P13924L	P	-	2	0	TTN	179151098	1.000000	0.71417	0.995000	0.50966	0.932000	0.56968	6.653000	0.74382	2.822000	0.97130	0.650000	0.86243	CCG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
PTPRN	5798	broad.mit.edu	37	2	220159756	220159756	+	Silent	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:220159756G>A	ENST00000295718.2	-	19	2856	c.2616C>T	c.(2614-2616)ttC>ttT	p.F872F	PTPRN_ENST00000409251.3_Silent_p.F843F|PTPRN_ENST00000423636.2_Silent_p.F782F|PTPRN_ENST00000497977.1_Intron|MIR153-1_ENST00000384914.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	872	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCCAGCTGAGGAAGTGGAACT	0.687																																						uc002vkz.2																			0				ovary(2)|lung(1)|skin(1)	4						c.(2614-2616)TTC>TTT		protein tyrosine phosphatase, receptor type, N							39.0	44.0	43.0					2																	220159756		2202	4299	6501	SO:0001819	synonymous_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220159756G>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2616C>T	2.37:g.220159756G>A						PTPRN_uc010zlc.1_Silent_p.F782F|PTPRN_uc002vla.2_Silent_p.F843F|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank	p.F872F	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	19	2705	-		Renal(207;0.0474)	872			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	c.2616C>T	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499648	0.64298	.	.	ENSG00000054356	ENST00000443981	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.74520	0.3727	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72880	-0.4158	4	.	.	.	.	18.5428	0.91035	0.0:0.0:1.0:0.0	.	.	.	.	F	75	.	.	S	-	2	0	PTPRN	219868000	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.945000	0.63568	2.698000	0.92095	0.650000	0.86243	TCC		0.687	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2		
GSS	2937	broad.mit.edu	37	20	33516696	33516696	+	Missense_Mutation	SNP	T	T	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr20:33516696T>A	ENST00000216951.2	-	13	1458	c.1360A>T	c.(1360-1362)Atc>Ttc	p.I454F	GSS_ENST00000541098.1_Missense_Mutation_p.I326F|GSS_ENST00000451957.2_Missense_Mutation_p.I343F	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	454					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GCATGCTCGATGGCTTTGGTT	0.562																																						uc002xbg.2																			0				ovary(3)	3						c.(1360-1362)ATC>TTC		glutathione synthetase	Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						202.0	134.0	157.0					20																	33516696		2203	4300	6503	SO:0001583	missense	2937				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	g.chr20:33516696T>A		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.1360A>T	20.37:g.33516696T>A	ENSP00000216951:p.Ile454Phe					GSS_uc010zun.1_Missense_Mutation_p.I326F|GSS_uc010zuo.1_Missense_Mutation_p.I343F|GSS_uc010zup.1_Missense_Mutation_p.I385F|GSS_uc002xbh.2_RNA	p.I454F	NM_000178	NP_000169	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)		13	1440	-			454					B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	ENST00000216951.2	37	c.1360A>T	CCDS13245.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.717331	0.48622	.	.	ENSG00000100983	ENST00000216951;ENST00000541098;ENST00000451957	D;D;D	0.90788	-2.73;-2.73;-2.73	4.95	2.62	0.31277	ATP-grasp fold, subdomain 2 (1);	0.437404	0.26453	N	0.024293	D	0.86527	0.5954	L	0.50333	1.59	0.34854	D	0.741981	P;P	0.52463	0.953;0.622	B;B	0.43680	0.427;0.347	D	0.86254	0.1651	10	0.52906	T	0.07	-2.1582	7.6065	0.28105	0.0:0.3081:0.0:0.6919	.	343;454	B6F210;P48637	.;GSHB_HUMAN	F	454;326;343	ENSP00000216951:I454F;ENSP00000439744:I326F;ENSP00000407517:I343F	ENSP00000216951:I454F	I	-	1	0	GSS	32980357	0.682000	0.27624	0.960000	0.40013	0.998000	0.95712	0.338000	0.19858	0.355000	0.24131	0.459000	0.35465	ATC		0.562	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2		
MED15	51586	broad.mit.edu	37	22	20939408	20939408	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr22:20939408G>A	ENST00000263205.7	+	16	2054	c.1985G>A	c.(1984-1986)cGg>cAg	p.R662Q	MED15_ENST00000542773.1_3'UTR|MED15_ENST00000292733.7_Missense_Mutation_p.R622Q|MED15_ENST00000406969.1_Missense_Mutation_p.R596Q|MED15_ENST00000382974.2_Missense_Mutation_p.R551Q|MED15_ENST00000541476.1_Missense_Mutation_p.R596Q|MED15_ENST00000425759.2_Missense_Mutation_p.R511Q	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	662					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GTGTGCACCCGGAAGCGCAGG	0.682																																						uc002zsp.2																			0				skin(1)	1						c.(1984-1986)CGG>CAG		mediator complex subunit 15 isoform a							57.0	53.0	55.0					22																	20939408		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20939408G>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1985G>A	22.37:g.20939408G>A	ENSP00000263205:p.Arg662Gln					MED15_uc002zsq.2_Missense_Mutation_p.R622Q|MED15_uc010gso.2_Missense_Mutation_p.R605Q|MED15_uc002zsr.2_Missense_Mutation_p.R596Q|MED15_uc011ahs.1_Missense_Mutation_p.R596Q|MED15_uc002zss.2_Missense_Mutation_p.R541Q|MED15_uc011ahu.1_Missense_Mutation_p.R372Q|MED15_uc002zst.2_Missense_Mutation_p.R278Q|MED15_uc002zsu.2_Missense_Mutation_p.R267Q	p.R662Q	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		16	2065	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	662					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1985G>A	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066390	0.36470	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	4.93	4.93	0.64822	Mediator complex, subunit Med15, metazoa (1);	0.060735	0.64402	D	0.000004	T	0.59074	0.2167	L	0.47716	1.5	0.80722	D	1	P;P;B;P;B;P	0.51240	0.694;0.844;0.268;0.812;0.433;0.943	B;B;B;B;B;P	0.49012	0.117;0.379;0.028;0.261;0.033;0.598	T	0.63479	-0.6628	9	0.66056	D	0.02	.	13.9929	0.64378	0.0:0.0:1.0:0.0	.	592;641;278;596;622;662	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	Q	511;622;662;596;551;596;592	.	ENSP00000263205:R662Q	R	+	2	0	MED15	19269408	1.000000	0.71417	0.990000	0.47175	0.008000	0.06430	7.756000	0.85195	2.442000	0.82660	0.561000	0.74099	CGG		0.682	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889	
NCAPH2	29781	broad.mit.edu	37	22	50956414	50956414	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr22:50956414A>G	ENST00000420993.2	+	6	555	c.433A>G	c.(433-435)Atc>Gtc	p.I145V	NCAPH2_ENST00000395701.3_Missense_Mutation_p.I145V|NCAPH2_ENST00000395698.3_Missense_Mutation_p.I145V|NCAPH2_ENST00000299821.11_Missense_Mutation_p.I145V	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	145					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGTCCTCATCATCCCCCTCCT	0.612																																						uc003blr.3																			0				ovary(1)|skin(1)	2						c.(433-435)ATC>GTC		kleisin beta isoform 2							69.0	66.0	67.0					22																	50956414		2203	4300	6503	SO:0001583	missense	29781				chromosome condensation	chromosome|nucleus		g.chr22:50956414A>G	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.433A>G	22.37:g.50956414A>G	ENSP00000410088:p.Ile145Val					NCAPH2_uc003blq.3_Missense_Mutation_p.I145V|NCAPH2_uc003blv.2_Missense_Mutation_p.I145V|NCAPH2_uc010hbb.2_5'UTR|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.I145V|NCAPH2_uc003bly.3_RNA	p.I145V	NM_152299	NP_689512	Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	6	555	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	145					B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	c.433A>G	CCDS14094.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.634|8.634	0.894477|0.894477	0.17613|0.17613	.|.	.|.	ENSG00000025770|ENSG00000025770	ENST00000496227|ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821	.|.	.|.	.|.	5.01|5.01	-10.0|-10.0	0.00425|0.00425	.|.	.|0.764374	.|0.12401	.|N	.|0.472131	T|T	0.09730|0.09730	0.0239|0.0239	N|N	0.04387|0.04387	-0.21|-0.21	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.06405	.|0.001;0.001;0.002;0.001	T|T	0.22103|0.22103	-1.0226|-1.0226	6|9	0.10902|0.13853	T|T	0.67|0.58	-8.2611|-8.2611	5.06|5.06	0.14551|0.14551	0.5524:0.092:0.2633:0.0923|0.5524:0.092:0.2633:0.0923	.|.	.|145;145;145;145	.|Q6IBW4-4;Q6IBW4-2;Q6IBW4;Q6IBW4-5	.|.;.;CNDH2_HUMAN;.	R|V	85|145;145;145;111;145	.|.	ENSP00000355052:H144R|ENSP00000299821:I145V	H|I	+|+	2|1	0|0	NCAPH2|NCAPH2	49303280|49303280	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.370000|0.370000	0.29829|0.29829	-0.176000|-0.176000	0.09811|0.09811	-1.176000|-1.176000	0.02747|0.02747	-1.763000|-1.763000	0.00667|0.00667	CAT|ATC		0.612	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299	
DLEC1	9940	broad.mit.edu	37	3	38139020	38139020	+	Silent	SNP	T	T	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr3:38139020T>C	ENST00000308059.6	+	17	2478	c.2457T>C	c.(2455-2457)ttT>ttC	p.F819F	DLEC1_ENST00000452631.2_Silent_p.F819F|DLEC1_ENST00000346219.3_Silent_p.F819F					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TCGGGGATTTTGAGTTGAACT	0.562																																						uc003cho.1																			0				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(2455-2457)TTT>TTC		deleted in lung and esophageal cancer 1 isoform							52.0	54.0	53.0					3																	38139020		1906	4134	6040	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38139020T>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2457T>C	3.37:g.38139020T>C						DLEC1_uc003chp.1_Silent_p.F819F|DLEC1_uc010hgv.1_Silent_p.F819F|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_RNA	p.F819F	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	17	2478	+			819						Silent	SNP	ENST00000308059.6	37	c.2457T>C	CCDS2672.2																																																																																				0.562	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	
ATP6V1A	523	broad.mit.edu	37	3	113503555	113503555	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr3:113503555A>G	ENST00000273398.3	+	5	547	c.439A>G	c.(439-441)Atc>Gtc	p.I147V	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.I114V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	147					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	TGGTAGTCATATCACTGGCGG	0.373																																						uc003eao.2																			0				ovary(2)|skin(1)	3						c.(439-441)ATC>GTC		ATPase, H+ transporting, lysosomal V1 subunit A							89.0	90.0	90.0					3																	113503555		2203	4300	6503	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113503555A>G	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.439A>G	3.37:g.113503555A>G	ENSP00000273398:p.Ile147Val					ATP6V1A_uc011bik.1_Missense_Mutation_p.I114V	p.I147V	NM_001690	NP_001681	P38606	VATA_HUMAN			5	505	+			147					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.439A>G	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	A	9.667	1.145674	0.21288	.	.	ENSG00000114573	ENST00000273398;ENST00000538620;ENST00000496747;ENST00000475322	D;T	0.84370	-1.84;-1.06	6.07	6.07	0.98685	.	0.045064	0.85682	D	0.000000	T	0.68961	0.3058	N	0.04880	-0.145	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.66594	-0.5884	10	0.02654	T	1	-18.8407	16.6406	0.85098	1.0:0.0:0.0:0.0	.	147	P38606	VATA_HUMAN	V	147;114;114;147	ENSP00000273398:I147V;ENSP00000439874:I114V	ENSP00000273398:I147V	I	+	1	0	ATP6V1A	114986245	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.711000	0.91396	2.326000	0.78906	0.533000	0.62120	ATC		0.373	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690	
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						uc003erv.2																			0					0						c.(1621-1626)GATGAT>GAT		debranching enzyme homolog 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del					DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D	p.541_542DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			8	1759_1761	-			541_542					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1		
FRYL	285527	broad.mit.edu	37	4	48575256	48575256	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr4:48575256G>C	ENST00000503238.1	-	23	2850	c.2851C>G	c.(2851-2853)Cta>Gta	p.L951V	FRYL_ENST00000537810.1_Missense_Mutation_p.L951V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.L951V|FRYL_ENST00000507711.1_Missense_Mutation_p.L951V|RNU5E-3P_ENST00000515913.1_RNA			O94915	FRYL_HUMAN	FRY-like	951					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCCTCTATTAGTTCCCTGGAA	0.348																																						uc003gyh.1																			0				skin(1)	1						c.(2851-2853)CTA>GTA		furry-like							94.0	94.0	94.0					4																	48575256		1846	4086	5932	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48575256G>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2851C>G	4.37:g.48575256G>C	ENSP00000426064:p.Leu951Val					FRYL_uc003gyk.2_Missense_Mutation_p.L951V	p.L951V	NM_015030	NP_055845	O94915	FRYL_HUMAN			26	3456	-			951					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.2851C>G	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647973	0.67358	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.04654	3.58;3.58;3.58;3.58	5.8	4.74	0.60224	Armadillo-like helical (1);Armadillo-type fold (1);	0.097049	0.42821	U	0.000660	T	0.17238	0.0414	M	0.70842	2.15	0.80722	D	1	D;D	0.89917	0.979;1.0	D;D	0.85130	0.973;0.997	T	0.00281	-1.1851	10	0.59425	D	0.04	.	8.0086	0.30340	0.2807:0.0:0.7193:0.0	.	951;951	F2Z2S2;O94915	.;FRYL_HUMAN	V	951	ENSP00000426064:L951V;ENSP00000351113:L951V;ENSP00000441114:L951V;ENSP00000421584:L951V	ENSP00000351113:L951V	L	-	1	2	FRYL	48270013	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.220000	0.42908	1.108000	0.41662	0.655000	0.94253	CTA		0.348	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		
PITX2	5308	broad.mit.edu	37	4	111539315	111539315	+	Missense_Mutation	SNP	C	C	T	rs571758306		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr4:111539315C>T	ENST00000354925.2	-	7	2625	c.920G>A	c.(919-921)aGt>aAt	p.S307N	PITX2_ENST00000355080.5_Missense_Mutation_p.S261N|RP11-380D23.2_ENST00000503456.1_lincRNA|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000306732.3_Missense_Mutation_p.S314N|PITX2_ENST00000394598.2_Missense_Mutation_p.S307N|PITX2_ENST00000394595.3_3'UTR	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	307					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTGGCAAGCACTCAGGTTGGA	0.632													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16819	0.0		0.0	False		,,,				2504	0.0					uc003iad.2																			0					0						c.(919-921)AGT>AAT		paired-like homeodomain transcription factor 2							48.0	46.0	47.0					4																	111539315		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding	g.chr4:111539315C>T	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.920G>A	4.37:g.111539315C>T	ENSP00000347004:p.Ser307Asn					PITX2_uc003iac.2_Missense_Mutation_p.S314N|PITX2_uc003iae.2_Missense_Mutation_p.S261N|PITX2_uc010iml.2_Missense_Mutation_p.S178N|PITX2_uc003iaf.2_Missense_Mutation_p.S307N	p.S307N	NM_153426	NP_700475	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	5	1502	-		Hepatocellular(203;0.217)	307					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.920G>A	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831751	0.50845	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925	D;D;D;D	0.94457	-3.25;-3.34;-3.43;-3.34	5.68	5.68	0.88126	.	0.035417	0.85682	D	0.000000	D	0.94238	0.8150	L	0.61036	1.89	0.80722	D	1	B;D;B;B	0.52996	0.004;0.957;0.041;0.04	B;P;B;B	0.45946	0.016;0.498;0.05;0.061	D	0.92779	0.6239	10	0.28530	T	0.3	.	19.7959	0.96481	0.0:1.0:0.0:0.0	.	261;261;307;314	A8K6C6;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	N	314;307;261;307	ENSP00000304169:S314N;ENSP00000378097:S307N;ENSP00000347192:S261N;ENSP00000347004:S307N	ENSP00000304169:S314N	S	-	2	0	PITX2	111758764	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	7.818000	0.86416	2.689000	0.91719	0.655000	0.94253	AGT		0.632	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2		
FGA	2243	broad.mit.edu	37	4	155508007	155508007	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr4:155508007C>T	ENST00000302053.3	-	5	652	c.574G>A	c.(574-576)Gta>Ata	p.V192I	FGA_ENST00000403106.3_Missense_Mutation_p.V192I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	192					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTCAGATCTACTTCACGAGCT	0.418																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			0				ovary(2)|breast(1)	3						c.(574-576)GTA>ATA		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						116.0	116.0	116.0					4																	155508007		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155508007C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.574G>A	4.37:g.155508007C>T	ENSP00000306361:p.Val192Ile					FGA_uc003ioe.1_Missense_Mutation_p.V192I|FGA_uc003iof.1_Intron	p.V192I	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	632	-	all_hematologic(180;0.215)	Renal(120;0.0458)	192			By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.574G>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895353	0.33442	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	D;D	0.87491	-2.26;-2.26	5.87	-9.13	0.00704	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (1);	0.666605	0.15649	N	0.251496	T	0.67211	0.2869	N	0.17474	0.49	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.08055	0.002;0.003	T	0.51293	-0.8724	10	0.36615	T	0.2	.	5.2127	0.15327	0.0828:0.6336:0.1656:0.118	.	192;192	P02671-2;P02671	.;FIBA_HUMAN	I	192	ENSP00000306361:V192I;ENSP00000385981:V192I	ENSP00000306361:V192I	V	-	1	0	FGA	155727457	0.000000	0.05858	0.000000	0.03702	0.419000	0.31324	-0.383000	0.07398	-1.672000	0.01464	-0.137000	0.14449	GTA		0.418	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	
DNAH5	1767	broad.mit.edu	37	5	13829731	13829731	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:13829731C>T	ENST00000265104.4	-	38	6436	c.6332G>A	c.(6331-6333)cGt>cAt	p.R2111H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2111	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATAATCTGACGGTCAGGCAC	0.463									Kartagener syndrome																													uc003jfd.2																			0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(6331-6333)CGT>CAT		dynein, axonemal, heavy chain 5							134.0	118.0	123.0					5																	13829731		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13829731C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6332G>A	5.37:g.13829731C>T	ENSP00000265104:p.Arg2111His						p.R2111H	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			38	6374	-	Lung NSC(4;0.00476)		2111			AAA 1 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.6332G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041943	0.93685	.	.	ENSG00000039139	ENST00000265104	T	0.09255	3.0	5.46	5.46	0.80206	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.40272	0.1110	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.35992	-0.9766	10	0.62326	D	0.03	.	19.3152	0.94208	0.0:1.0:0.0:0.0	.	2111	Q8TE73	DYH5_HUMAN	H	2111	ENSP00000265104:R2111H	ENSP00000265104:R2111H	R	-	2	0	DNAH5	13882731	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	7.818000	0.86416	2.550000	0.86006	0.655000	0.94253	CGT		0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
CMYA5	202333	broad.mit.edu	37	5	79030268	79030268	+	Missense_Mutation	SNP	T	T	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:79030268T>G	ENST00000446378.2	+	2	5711	c.5680T>G	c.(5680-5682)Tgg>Ggg	p.W1894G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1894					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGATGAAAACTGGATGTTGGG	0.423																																						uc003kgc.2																			0				ovary(6)|pancreas(2)|lung(1)	9						c.(5680-5682)TGG>GGG		cardiomyopathy associated 5							49.0	48.0	49.0					5																	79030268		1864	4101	5965	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79030268T>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5680T>G	5.37:g.79030268T>G	ENSP00000394770:p.Trp1894Gly						p.W1894G	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	5752	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1894					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.5680T>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.952073	0.53293	.	.	ENSG00000164309	ENST00000446378	T	0.04970	3.52	5.8	-11.6	0.00059	.	1.141070	0.06527	N	0.740739	T	0.03434	0.0099	L	0.43923	1.385	0.09310	N	1	P	0.44734	0.842	B	0.32677	0.15	T	0.03641	-1.1017	10	0.38643	T	0.18	.	6.5208	0.22275	0.5953:0.1976:0.0:0.2071	.	1894	Q8N3K9	CMYA5_HUMAN	G	1894	ENSP00000394770:W1894G	ENSP00000394770:W1894G	W	+	1	0	CMYA5	79066024	0.000000	0.05858	0.000000	0.03702	0.831000	0.47069	-0.554000	0.06006	-2.582000	0.00461	-1.412000	0.01120	TGG		0.423	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
ZNF608	57507	broad.mit.edu	37	5	123983427	123983427	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:123983427C>T	ENST00000306315.5	-	4	3085	c.2650G>A	c.(2650-2652)Gat>Aat	p.D884N	ZNF608_ENST00000504926.1_Missense_Mutation_p.D457N	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	884							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TAAACCTTATCGGCCTCAGCT	0.532																																						uc003ktq.1																			0				skin(3)|ovary(2)|lung(1)	6						c.(2650-2652)GAT>AAT		zinc finger protein 608							75.0	70.0	72.0					5																	123983427		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123983427C>T	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2650G>A	5.37:g.123983427C>T	ENSP00000307746:p.Asp884Asn					ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.D884N|ZNF608_uc003ktt.1_Missense_Mutation_p.D884N	p.D884N	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	2773	-		all_cancers(142;0.186)|Prostate(80;0.081)	884					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.2650G>A	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772000	0.90108	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.62232	0.05;0.04	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.80160	0.4572	M	0.73217	2.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.78884	-0.2028	10	0.54805	T	0.06	-27.4675	20.5161	0.99213	0.0:1.0:0.0:0.0	.	884	Q9ULD9	ZN608_HUMAN	N	457;884	ENSP00000427657:D457N;ENSP00000307746:D884N	ENSP00000307746:D884N	D	-	1	0	ZNF608	124011326	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.731000	0.84895	2.852000	0.98041	0.643000	0.83706	GAT		0.532	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432	
PCDHB15	56121	broad.mit.edu	37	5	140625602	140625602	+	Missense_Mutation	SNP	T	T	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:140625602T>G	ENST00000231173.3	+	1	456	c.456T>G	c.(454-456)ttT>ttG	p.F152L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	152	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACTGTGTTTCCTCTGAAAA	0.438																																						uc003lje.2																			0				ovary(2)|breast(2)|skin(1)	5						c.(454-456)TTT>TTG		protocadherin beta 15 precursor							59.0	63.0	62.0					5																	140625602		2203	4300	6503	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140625602T>G	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.456T>G	5.37:g.140625602T>G	ENSP00000231173:p.Phe152Leu						p.F152L	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	456	+			152			Extracellular (Potential).|Cadherin 2.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.456T>G	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112556	0.56398	.	.	ENSG00000113248	ENST00000231173	T	0.47177	0.85	4.76	4.76	0.60689	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.50990	0.1648	M	0.70842	2.15	0.34416	D	0.696938	B	0.19331	0.035	B	0.33690	0.168	T	0.62286	-0.6886	9	0.52906	T	0.07	.	9.6294	0.39770	0.156:0.0:0.0:0.844	.	152	Q9Y5E8	PCDBF_HUMAN	L	152	ENSP00000231173:F152L	ENSP00000231173:F152L	F	+	3	2	PCDHB15	140605786	0.003000	0.15002	0.998000	0.56505	0.922000	0.55478	-0.034000	0.12225	1.908000	0.55244	0.260000	0.18958	TTT		0.438	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935	
ARHGEF37	389337	broad.mit.edu	37	5	148997790	148997790	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:148997790G>A	ENST00000333677.6	+	6	873	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	237						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CGGCTGGCCCGCATCAACACA	0.632																																						uc003lra.1																			0					0						c.(709-711)CGC>CAC		hypothetical protein LOC389337							74.0	82.0	79.0					5																	148997790		2031	4185	6216	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:148997790G>A	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.710G>A	5.37:g.148997790G>A	ENSP00000328083:p.Arg237His						p.R237H	NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN			6	774	+			237					Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.710G>A	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618581	0.87460	.	.	ENSG00000183111	ENST00000333677	T	0.57273	0.41	5.7	4.84	0.62591	.	0.176266	0.49916	N	0.000139	T	0.65923	0.2738	L	0.50333	1.59	0.58432	D	0.999992	D	0.89917	1.0	D	0.75484	0.986	T	0.68014	-0.5521	10	0.62326	D	0.03	-3.2861	13.0329	0.58854	0.0745:0.0:0.9255:0.0	.	237	A1IGU5	ARH37_HUMAN	H	237	ENSP00000328083:R237H	ENSP00000328083:R237H	R	+	2	0	ARHGEF37	148977983	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	7.167000	0.77562	1.426000	0.47256	-0.140000	0.14226	CGC		0.632	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669	
CLINT1	9685	broad.mit.edu	37	5	157232966	157232966	+	Missense_Mutation	SNP	T	T	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:157232966T>C	ENST00000411809.2	-	7	1054	c.850A>G	c.(850-852)Acc>Gcc	p.T284A	CLINT1_ENST00000523908.1_Missense_Mutation_p.T284A|CLINT1_ENST00000296951.5_Missense_Mutation_p.T266A|CLINT1_ENST00000523094.1_Missense_Mutation_p.T266A|CLINT1_ENST00000530742.1_Missense_Mutation_p.T266A	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	284					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGATCAATGGTTTTGGAAGGA	0.473																																					Colon(22;427 587 2170 6147 14291)	uc003lxj.1																			0				ovary(2)|pancreas(1)	3						c.(850-852)ACC>GCC		epsin 4							279.0	278.0	278.0					5																	157232966		2135	4240	6375	SO:0001583	missense	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157232966T>C	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.850A>G	5.37:g.157232966T>C	ENSP00000388340:p.Thr284Ala					CLINT1_uc003lxi.1_Missense_Mutation_p.T266A|CLINT1_uc011ddv.1_Missense_Mutation_p.T284A	p.T284A	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	1040	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	284					B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	37	c.850A>G	CCDS47330.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.655571	0.47467	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.63	5.63	0.86233	.	0.091790	0.85682	D	0.000000	T	0.37785	0.1016	M	0.62723	1.935	0.46701	D	0.999162	B;B	0.27013	0.101;0.166	B;B	0.17098	0.017;0.017	T	0.29792	-1.0000	10	0.07175	T	0.84	-14.8106	15.8385	0.78818	0.0:0.0:0.0:1.0	.	284;284	B7Z6F8;Q14677	.;EPN4_HUMAN	A	266;266;284;266;284	ENSP00000429345:T266A;ENSP00000433419:T266A;ENSP00000388340:T284A;ENSP00000296951:T266A;ENSP00000429824:T284A	ENSP00000296951:T266A	T	-	1	0	CLINT1	157165544	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.257000	0.72480	2.145000	0.66743	0.455000	0.32223	ACC		0.473	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666	
N4BP3	23138	broad.mit.edu	37	5	177548865	177548865	+	Missense_Mutation	SNP	G	G	A	rs376298616		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:177548865G>A	ENST00000274605.5	+	5	1857	c.1498G>A	c.(1498-1500)Gtg>Atg	p.V500M		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	500						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGGAGCGCGTGCTGCGCTA	0.687																																						uc003mik.1																			0					0						c.(1498-1500)GTG>ATG		Nedd4 binding protein 3							14.0	19.0	17.0					5																	177548865		2200	4292	6492	SO:0001583	missense	23138					cytoplasmic vesicle membrane		g.chr5:177548865G>A	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.1498G>A	5.37:g.177548865G>A	ENSP00000274605:p.Val500Met					N4BP3_uc003mil.1_Missense_Mutation_p.V169M	p.V500M	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1745	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	500			Potential.		B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	37	c.1498G>A	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363235	0.82353	.	.	ENSG00000145911	ENST00000274605	T	0.61392	0.11	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.77445	0.4131	M	0.78916	2.43	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	T	0.79564	-0.1751	10	0.87932	D	0	-29.0069	17.337	0.87285	0.0:0.0:1.0:0.0	.	500	O15049	N4BP3_HUMAN	M	500	ENSP00000274605:V500M	ENSP00000274605:V500M	V	+	1	0	N4BP3	177481471	1.000000	0.71417	0.983000	0.44433	0.874000	0.50279	6.802000	0.75175	2.700000	0.92200	0.462000	0.41574	GTG		0.687	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111	
RASGEF1C	255426	broad.mit.edu	37	5	179555514	179555514	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:179555514G>T	ENST00000393371.2	-	4	831	c.535C>A	c.(535-537)Ccc>Acc	p.P179T	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.P179T|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.P28T|RASGEF1C_ENST00000519883.1_5'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	179					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGGAGATGGGCTTGTCGGCA	0.637																																						uc003mlq.2																			0				ovary(1)	1						c.(535-537)CCC>ACC		RasGEF domain family, member 1C							103.0	85.0	91.0					5																	179555514		2203	4300	6503	SO:0001583	missense	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179555514G>T	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.535C>A	5.37:g.179555514G>T	ENSP00000377037:p.Pro179Thr					RASGEF1C_uc003mlr.2_Missense_Mutation_p.P179T|RASGEF1C_uc003mlp.3_Missense_Mutation_p.P28T	p.P179T	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	832	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	179					D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	37	c.535C>A	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849712	0.32699	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.31247	1.5;1.5;1.5	4.31	4.31	0.51392	Ras guanine nucleotide exchange factor, domain (1);	0.073862	0.56097	D	0.000032	T	0.22936	0.0554	L	0.29908	0.895	0.34355	D	0.690274	B	0.11235	0.004	B	0.12156	0.007	T	0.20472	-1.0274	10	0.25106	T	0.35	.	13.8989	0.63790	0.0:0.0:1.0:0.0	.	179	Q8N431	RGF1C_HUMAN	T	179;179;28	ENSP00000354963:P179T;ENSP00000377037:P179T;ENSP00000429114:P28T	ENSP00000354963:P179T	P	-	1	0	RASGEF1C	179488120	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.745000	0.68672	2.136000	0.66102	0.491000	0.48974	CCC		0.637	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062	
DST	667	broad.mit.edu	37	6	56342227	56342227	+	Silent	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr6:56342227G>A	ENST00000361203.3	-	86	20638	c.20631C>T	c.(20629-20631)ggC>ggT	p.G6877G	DST_ENST00000244364.6_Silent_p.G4574G|DST_ENST00000446842.2_Silent_p.G6662G|DST_ENST00000370769.4_Silent_p.G6988G|DST_ENST00000421834.2_Silent_p.G4900G|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.G4791G|DST_ENST00000370754.5_Silent_p.G7166G			Q03001	DYST_HUMAN	dystonin	6878					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAACGGTGTCGCCCATAGTGG	0.458																																						uc003pdf.2																			0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(15232-15234)GGC>GGT		dystonin isoform 2							214.0	223.0	220.0					6																	56342227		1933	4143	6076	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56342227G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20631C>T	6.37:g.56342227G>A						DST_uc003pcz.3_Silent_p.G4900G|DST_uc011dxj.1_Silent_p.G4929G|DST_uc011dxk.1_Silent_p.G4940G|DST_uc003pcy.3_Silent_p.G4574G	p.G5078G	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		85	15262	-	Lung NSC(77;0.103)		6986			Spectrin 20.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.15234C>T																																																																																					0.458	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
ME1	4199	broad.mit.edu	37	6	84056002	84056002	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr6:84056002A>T	ENST00000369705.3	-	5	606	c.490T>A	c.(490-492)Tgt>Agt	p.C164S	ME1_ENST00000541327.1_5'UTR|ME1_ENST00000543031.1_Missense_Mutation_p.C89S	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	164					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		ATTCCATTACAGCCAAGGTCT	0.448																																						uc003pjy.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(490-492)TGT>AGT		cytosolic malic enzyme 1	NADH(DB00157)						87.0	78.0	81.0					6																	84056002		2203	4300	6503	SO:0001583	missense	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:84056002A>T	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.490T>A	6.37:g.84056002A>T	ENSP00000358719:p.Cys164Ser					ME1_uc011dzb.1_Missense_Mutation_p.C89S|ME1_uc011dzc.1_5'UTR	p.C164S	NM_002395	NP_002386	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	5	596	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	164					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	c.490T>A	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.499518	0.44455	.	.	ENSG00000065833	ENST00000369705;ENST00000543031	T;T	0.28255	1.62;1.62	5.86	4.69	0.59074	Malic enzyme, N-terminal (2);	0.080792	0.85682	N	0.000000	T	0.11879	0.0289	L	0.33668	1.02	0.80722	D	1	B	0.16166	0.016	B	0.21708	0.036	T	0.03863	-1.0997	10	0.49607	T	0.09	-12.9973	10.3633	0.44008	0.738:0.0:0.0:0.262	.	164	P48163	MAOX_HUMAN	S	164;89	ENSP00000358719:C164S;ENSP00000446114:C89S	ENSP00000358719:C164S	C	-	1	0	ME1	84112721	0.976000	0.34144	0.998000	0.56505	0.930000	0.56654	1.106000	0.31098	1.016000	0.39470	0.528000	0.53228	TGT		0.448	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1		
SAMD9	54809	broad.mit.edu	37	7	92732691	92732691	+	Missense_Mutation	SNP	C	C	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:92732691C>A	ENST00000379958.2	-	3	2989	c.2720G>T	c.(2719-2721)gGg>gTg	p.G907V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	907						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AATATTCTGCCCTTTCAGGAT	0.333																																						uc003umf.2																			0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(2719-2721)GGG>GTG		sterile alpha motif domain containing 9							48.0	51.0	50.0					7																	92732691		2198	4289	6487	SO:0001583	missense	54809					cytoplasm		g.chr7:92732691C>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2720G>T	7.37:g.92732691C>A	ENSP00000369292:p.Gly907Val					SAMD9_uc003umg.2_Missense_Mutation_p.G907V	p.G907V	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	2976	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		907					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.2720G>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414659	0.25465	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.25414	1.8;2.62	4.47	3.59	0.41128	.	0.465113	0.18984	U	0.125799	T	0.28400	0.0702	L	0.52573	1.65	0.40395	D	0.979587	P	0.48694	0.914	P	0.46758	0.526	T	0.07158	-1.0787	10	0.87932	D	0	-2.7089	8.7054	0.34351	0.0:0.8123:0.0:0.1877	.	907	Q5K651	SAMD9_HUMAN	V	907	ENSP00000369292:G907V;ENSP00000414529:G907V	ENSP00000369292:G907V	G	-	2	0	SAMD9	92570627	0.654000	0.27367	0.871000	0.34182	0.373000	0.29922	1.169000	0.31871	1.110000	0.41699	0.609000	0.83330	GGG		0.333	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
AZGP1	563	broad.mit.edu	37	7	99569575	99569575	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:99569575A>T	ENST00000292401.4	-	2	267	c.131T>A	c.(130-132)gTc>gAc	p.V44D	AZGP1_ENST00000411734.1_Missense_Mutation_p.V41D	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	44					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AAACGCGGGGACGTCTTCAAC	0.502																																						uc003ush.2																			0				ovary(1)|central_nervous_system(1)	2						c.(130-132)GTC>GAC		alpha-2-glycoprotein 1, zinc							92.0	89.0	90.0					7																	99569575		2203	4300	6503	SO:0001583	missense	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99569575A>T	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.131T>A	7.37:g.99569575A>T	ENSP00000292401:p.Val44Asp						p.V44D	NM_001185	NP_001176	P25311	ZA2G_HUMAN			2	175	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		44					D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	c.131T>A	CCDS5680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.722|9.722	1.159831|1.159831	0.21454|0.21454	.|.	.|.	ENSG00000160862|ENSG00000160862	ENST00000419575|ENST00000292401;ENST00000411734	.|D;D	.|0.89617	.|-2.54;-2.54	1.51|1.51	0.291|0.291	0.15732|0.15732	.|MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|2.121230	.|0.03058	.|U	.|0.155518	T|T	0.79569|0.79569	0.4468|0.4468	N|N	0.13140|0.13140	0.3|0.3	0.09310|0.09310	N|N	1|1	.|B	.|0.29936	.|0.262	.|B	.|0.30782	.|0.12	T|T	0.68808|0.68808	-0.5311|-0.5311	5|10	.|0.52906	.|T	.|0.07	.|.	3.4563|3.4563	0.07516|0.07516	0.7701:0.0:0.2299:0.0|0.7701:0.0:0.2299:0.0	.|.	.|44	.|P25311	.|ZA2G_HUMAN	T|D	15|44;41	.|ENSP00000292401:V44D;ENSP00000396093:V41D	.|ENSP00000292401:V44D	S|V	-|-	1|2	0|0	AZGP1|AZGP1	99407511|99407511	0.667000|0.667000	0.27484|0.27484	0.005000|0.005000	0.12908|0.12908	0.000000|0.000000	0.00434|0.00434	1.046000|1.046000	0.30354|0.30354	0.065000|0.065000	0.16485|0.16485	-0.818000|-0.818000	0.03119|0.03119	TCC|GTC		0.502	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185	
AASS	10157	broad.mit.edu	37	7	121717919	121717920	+	Frame_Shift_Ins	INS	-	-	G	rs147476318		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:121717919_121717920insG	ENST00000393376.1	-	22	2729_2730	c.2634_2635insC	c.(2632-2637)accgccfs	p.A879fs	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Frame_Shift_Ins_p.A879fs			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	879	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GCTGCCATGGCGGTGGGTAACC	0.46																																						uc003vka.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2632-2637)ACCGCCfs		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)																																			SO:0001589	frameshift_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121717919_121717920insG	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2635dupC	7.37:g.121717921_121717921dupG	ENSP00000377040:p.Ala879fs					AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Frame_Shift_Ins_p.T878fs|AASS_uc011knw.1_Frame_Shift_Ins_p.T366fs	p.T878fs	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			22	2730_2731	-			878_879			Saccharopine dehydrogenase.		O95462	Frame_Shift_Ins	INS	ENST00000393376.1	37	c.2634_2635insC	CCDS5783.1																																																																																				0.460	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	
IQUB	154865	broad.mit.edu	37	7	123152166	123152166	+	Missense_Mutation	SNP	G	G	T	rs371332386		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:123152166G>T	ENST00000466202.1	-	2	805	c.229C>A	c.(229-231)Caa>Aaa	p.Q77K	IQUB_ENST00000434450.1_Missense_Mutation_p.Q77K|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Missense_Mutation_p.Q77K	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	77					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TCCATGAGTTGTTCATTGTCT	0.413																																						uc003vkn.2																			0				ovary(3)|large_intestine(1)	4						c.(229-231)CAA>AAA		IQ motif and ubiquitin domain containing		G	LYS/GLN	1,4405	2.1+/-5.4	0,1,2202	251.0	209.0	223.0		229	-3.3	0.0	7		223	0,8600		0,0,4300	no	missense	IQUB	NM_178827.4	53	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	77/792	123152166	1,13005	2203	4300	6503	SO:0001583	missense	154865							g.chr7:123152166G>T	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.229C>A	7.37:g.123152166G>T	ENSP00000417769:p.Gln77Lys					IQUB_uc003vko.2_Missense_Mutation_p.Q77K|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.Q77K|IQUB_uc003vkq.2_Missense_Mutation_p.Q77K	p.Q77K	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			2	806	-			77					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.229C>A	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	G	3.972	-0.008113	0.07773	2.27E-4	0.0	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.39406	2.1;2.1;1.08	4.96	-3.35	0.04928	.	4.993710	0.00166	N	0.000002	T	0.19446	0.0467	N	0.11560	0.145	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.29852	-0.9998	10	0.02654	T	1	.	6.151	0.20313	0.0:0.2033:0.4198:0.3769	.	77;77;77	A1A4Z1;Q8NA54-2;Q8NA54	.;.;IQUB_HUMAN	K	77	ENSP00000417769:Q77K;ENSP00000324882:Q77K;ENSP00000388498:Q77K	ENSP00000324882:Q77K	Q	-	1	0	IQUB	122939402	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-2.779000	0.00774	-0.803000	0.04415	-0.219000	0.12488	CAA		0.413	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827	
FAM71F1	84691	broad.mit.edu	37	7	128370003	128370003	+	Missense_Mutation	SNP	C	C	T	rs140953386		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:128370003C>T	ENST00000315184.5	+	6	954	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	FAM71F1_ENST00000485070.1_Missense_Mutation_p.R200C	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	301										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTGTGACCTACGTTGGAGGGC	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		21679	0.0		0.001	False		,,,				2504	0.0					uc003vno.1																			0				skin(1)	1						c.(901-903)CGT>TGT		testes development-related NYD-SP18		C	CYS/ARG	0,4406		0,0,2203	128.0	115.0	119.0		901	-0.9	0.4	7	dbSNP_134	119	10,8590	6.4+/-24.3	0,10,4290	yes	missense	FAM71F1	NM_032599.2	180	0,10,6493	TT,TC,CC		0.1163,0.0,0.0769	benign	301/345	128370003	10,12996	2203	4300	6503	SO:0001583	missense	84691							g.chr7:128370003C>T	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.901C>T	7.37:g.128370003C>T	ENSP00000326652:p.Arg301Cys					FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.R200C|FAM71F1_uc003vnp.1_Missense_Mutation_p.R299C	p.R301C	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN			6	954	+			301					Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.901C>T	CCDS5804.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	4.726	0.134986	0.09032	0.0	0.001163	ENSG00000135248	ENST00000485070;ENST00000315184	T;T	0.23754	1.89;3.26	4.57	-0.913	0.10500	.	0.761957	0.11604	N	0.547438	T	0.12646	0.0307	N	0.14661	0.345	0.19575	N	0.999965	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.23190	-1.0195	10	0.62326	D	0.03	-0.4086	4.9371	0.13946	0.5276:0.2064:0.0:0.266	.	299;301;200	Q96KD3-2;Q96KD3;Q8NA48	.;F71F1_HUMAN;.	C	200;301	ENSP00000418192:R200C;ENSP00000326652:R301C	ENSP00000326652:R301C	R	+	1	0	FAM71F1	128157239	0.995000	0.38212	0.373000	0.26003	0.097000	0.18754	0.924000	0.28777	-0.002000	0.14469	-0.169000	0.13324	CGT		0.547	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599	
HIPK2	28996	broad.mit.edu	37	7	139416741	139416741	+	Silent	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:139416741C>T	ENST00000406875.3	-	2	187	c.93G>A	c.(91-93)ctG>ctA	p.L31L	HIPK2_ENST00000342645.6_Silent_p.L31L|HIPK2_ENST00000428878.2_Silent_p.L31L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	31					adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GCTCTATTTTCAGTTTCTTCA	0.493																																						uc003vvf.3																			0				ovary(3)|central_nervous_system(3)|skin(1)	7						c.(91-93)CTG>CTA		homeodomain interacting protein kinase 2 isoform							73.0	70.0	71.0					7																	139416741		1568	3582	5150	SO:0001819	synonymous_variant	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139416741C>T	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.93G>A	7.37:g.139416741C>T						HIPK2_uc003vvd.3_Silent_p.L31L	p.L31L	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN			2	267	-	Melanoma(164;0.205)		31					Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	37	c.93G>A																																																																																					0.493	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740	
CNTNAP2	26047	broad.mit.edu	37	7	146829418	146829418	+	Missense_Mutation	SNP	C	C	T	rs375172684		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:146829418C>T	ENST00000361727.3	+	8	1681	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	389					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGTGCCCGGACGGCTTAACCA	0.468										HNSCC(39;0.1)			C|||	1	0.000199681	0.0	0.0	5008	,	,		19821	0.001		0.0	False		,,,				2504	0.0					uc003weu.1																			0		p.R389Q(1)		ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1165-1167)CGG>TGG		cell recognition molecule Caspr2 precursor		C	TRP/ARG	0,4406		0,0,2203	130.0	121.0	124.0		1165	4.7	0.3	7		124	2,8598	2.2+/-6.3	0,2,4298	no	missense	CNTNAP2	NM_014141.5	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	389/1332	146829418	2,13004	2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829418C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1165C>T	7.37:g.146829418C>T	ENSP00000354778:p.Arg389Trp	HNSCC(39;0.1)					p.R389W	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1681	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	389			Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1165C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917226	0.73098	0.0	2.33E-4	ENSG00000174469	ENST00000361727	T	0.79141	-1.24	5.7	4.74	0.60224	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.101290	0.39083	N	0.001476	D	0.82917	0.5141	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	P	0.61477	0.889	T	0.80542	-0.1336	10	0.27082	T	0.32	.	13.764	0.62983	0.2007:0.7993:0.0:0.0	.	389	Q9UHC6	CNTP2_HUMAN	W	389	ENSP00000354778:R389W	ENSP00000354778:R389W	R	+	1	2	CNTNAP2	146460351	1.000000	0.71417	0.350000	0.25708	0.982000	0.71751	4.384000	0.59607	1.187000	0.43000	0.591000	0.81541	CGG		0.468	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
IARS	3376	broad.mit.edu	37	9	95007245	95007246	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr9:95007245_95007246GC>AA	ENST00000375643.3	-	27	3165_3166	c.2899_2900GC>TT	c.(2899-2901)GCt>TTt	p.A967F	IARS_ENST00000447699.2_Missense_Mutation_p.A857F|IARS_ENST00000375627.1_Missense_Mutation_p.A20F|IARS_ENST00000375629.3_Missense_Mutation_p.A20F|IARS_ENST00000443024.2_Missense_Mutation_p.A967F|IARS_ENST00000474340.1_5'Flank	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	967					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AAATACCTGAGCATCTGAGTGT	0.446																																						uc004art.1																			0				ovary(1)|skin(1)	2						c.(2899-2901)GCT>TTT		isoleucine tRNA synthetase	L-Isoleucine(DB00167)																																			SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95007245_95007246GC>AA	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2899_2900delinsAA	9.37:g.95007245_95007246delinsAA	ENSP00000364794:p.Ala967Phe					IARS_uc004ars.1_Missense_Mutation_p.A812F|IARS_uc004aru.3_Missense_Mutation_p.A967F|IARS_uc010mqr.2_Missense_Mutation_p.A857F|IARS_uc010mqt.2_Missense_Mutation_p.A190F	p.A967F	NM_013417	NP_038203	P41252	SYIC_HUMAN			27	3156_3157	-			967					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	DNP	ENST00000375643.3	37	c.2899_2900GC>TT	CCDS6694.1																																																																																				0.446	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161	
LPAR1	1902	broad.mit.edu	37	9	113703772	113703772	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr9:113703772C>T	ENST00000374431.3	-	4	1105	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	LPAR1_ENST00000541779.1_Missense_Mutation_p.R242Q|LPAR1_ENST00000374430.2_Missense_Mutation_p.R241Q|LPAR1_ENST00000538760.1_Missense_Mutation_p.R242Q|LPAR1_ENST00000358883.4_Missense_Mutation_p.R241Q	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	241					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AGAACTATGCCGAGACATTCT	0.468																																					NSCLC(115;661 2323 9836 34256)	uc004bfa.2																			0				ovary(2)	2						c.(721-723)CGG>CAG		lysophosphatidic acid receptor 1							95.0	93.0	94.0					9																	113703772		2203	4300	6503	SO:0001583	missense	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113703772C>T	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.722G>A	9.37:g.113703772C>T	ENSP00000363553:p.Arg241Gln					LPAR1_uc011lwm.1_Missense_Mutation_p.R242Q|LPAR1_uc004bfb.2_Missense_Mutation_p.R241Q|LPAR1_uc004bfc.2_Missense_Mutation_p.R241Q|LPAR1_uc011lwn.1_Missense_Mutation_p.R223Q|LPAR1_uc011lwo.1_Missense_Mutation_p.R242Q|LPAR1_uc010mub.2_Missense_Mutation_p.R241Q	p.R241Q	NM_057159	NP_476500	Q92633	LPAR1_HUMAN			4	977	-			241			Cytoplasmic (Potential).		B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	c.722G>A	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259768	0.59321	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.14787	0.0357	N	0.00793	-1.18	0.80722	D	1	B;B;B	0.28971	0.229;0.229;0.229	B;B;B	0.25140	0.058;0.058;0.058	T	0.19778	-1.0295	10	0.34782	T	0.22	.	17.708	0.88314	0.0:1.0:0.0:0.0	.	242;242;241	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	Q	241;242;241;241;223;242	ENSP00000363553:R241Q;ENSP00000445697:R242Q;ENSP00000363552:R241Q;ENSP00000351755:R241Q;ENSP00000440201:R242Q	ENSP00000351755:R241Q	R	-	2	0	LPAR1	112743593	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.437000	0.82529	0.563000	0.77884	CGG		0.468	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159	
SUSD1	64420	broad.mit.edu	37	9	114860875	114860875	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr9:114860875G>T	ENST00000374270.3	-	10	1521	c.1349C>A	c.(1348-1350)aCg>aAg	p.T450K	SUSD1_ENST00000374264.2_Missense_Mutation_p.T450K|SUSD1_ENST00000374263.3_Missense_Mutation_p.T450K	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	450						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTGTTCCCTCGTTGTGAAGTT	0.443																																						uc004bfu.2																			0					0						c.(1348-1350)ACG>AAG		sushi domain containing 1 precursor							164.0	143.0	150.0					9																	114860875		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114860875G>T	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1349C>A	9.37:g.114860875G>T	ENSP00000363388:p.Thr450Lys					SUSD1_uc010mui.2_Missense_Mutation_p.T450K|SUSD1_uc010muj.2_Missense_Mutation_p.T450K	p.T450K	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN			10	1390	-			450			Extracellular (Potential).		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1349C>A	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.95|16.95	3.263196|3.263196	0.59431|0.59431	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000355396|ENST00000374270;ENST00000374263;ENST00000374264	.|T;T;T	.|0.28895	.|1.59;1.59;1.59	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.45867	.|D	.|0.000338	T|T	0.57066|0.57066	0.2028|0.2028	M|M	0.81802|0.81802	2.56|2.56	0.41657|0.41657	D|D	0.989167|0.989167	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.987;0.999	T|T	0.60811|0.60811	-0.7189|-0.7189	5|9	.|.	.|.	.|.	-9.8735|-9.8735	14.1226|14.1226	0.65198|0.65198	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|450;450;450	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	K|K	433|450	.|ENSP00000363388:T450K;ENSP00000363381:T450K;ENSP00000363382:T450K	.|.	N|T	-|-	3|2	2|0	SUSD1|SUSD1	113900696|113900696	0.958000|0.958000	0.32768|0.32768	0.817000|0.817000	0.32601|0.32601	0.361000|0.361000	0.29550|0.29550	4.867000|4.867000	0.63013|0.63013	2.402000|2.402000	0.81655|0.81655	0.655000|0.655000	0.94253|0.94253	AAC|ACG		0.443	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486	
F9	2158	broad.mit.edu	37	X	138643014	138643014	+	Splice_Site	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chrX:138643014G>A	ENST00000218099.2	+	7	845	c.838G>A	c.(838-840)Ggt>Agt	p.G280S	F9_ENST00000394090.2_Splice_Site_p.G242S	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	280	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	AGTTGTCGCAGGTAAATACAC	0.343																																						uc004fas.1																			0				lung(2)|ovary(1)	3	GRCh37	CM057674|CM057675	F9	M		c.(838-840)GGT>AGT		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						157.0	139.0	145.0					X																	138643014		2203	4300	6503	SO:0001630	splice_region_variant	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643014G>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.838+1G>A	X.37:g.138643014G>A						F9_uc004fat.1_Missense_Mutation_p.G242S	p.G280S	NM_000133	NP_000124	P00740	FA9_HUMAN			7	867	+	Acute lymphoblastic leukemia(192;0.000127)		280			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.838G>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978076	0.74360	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.97016	-4.21;-4.21	5.84	5.84	0.93424	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98488	0.9496	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99568	1.0970	10	0.87932	D	0	.	16.3112	0.82872	0.0:0.0:1.0:0.0	.	242;280	Q5FBE1;P00740	.;FA9_HUMAN	S	280;242	ENSP00000218099:G280S;ENSP00000377650:G242S	ENSP00000218099:G280S	G	+	1	0	F9	138470680	1.000000	0.71417	1.000000	0.80357	0.223000	0.24884	6.978000	0.76147	2.457000	0.83068	0.544000	0.68410	GGT		0.343	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1		Missense_Mutation
ATP11C	286410	broad.mit.edu	37	X	138864837	138864837	+	Silent	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chrX:138864837A>G	ENST00000327569.3	-	18	1928	c.1830T>C	c.(1828-1830)gaT>gaC	p.D610D	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Silent_p.D610D|ATP11C_ENST00000370543.1_Silent_p.D610D|ATP11C_ENST00000370557.1_Silent_p.D607D|ATP11C_ENST00000359686.2_Silent_p.D610D	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	610					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTCTTTCATAATCATCTGGAG	0.353																																						uc004faz.2																			0				ovary(5)|large_intestine(3)	8						c.(1828-1830)GAT>GAC		ATPase, class VI, type 11C isoform a							91.0	81.0	84.0					X																	138864837		2203	4300	6503	SO:0001819	synonymous_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138864837A>G	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1830T>C	X.37:g.138864837A>G						ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Silent_p.D610D	p.D610D	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			18	1929	-	Acute lymphoblastic leukemia(192;0.000127)		610			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	c.1830T>C	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	A	9.538	1.112697	0.20795	.	.	ENSG00000101974	ENST00000422228	.	.	.	5.68	1.62	0.23740	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31364	-0.9946	4	.	.	.	.	0.8895	0.01251	0.3419:0.2705:0.096:0.2916	.	.	.	.	T	162	.	.	I	-	2	0	ATP11C	138692503	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.269000	0.33074	0.729000	0.32403	0.481000	0.45027	ATT		0.353	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	
