#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_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ATAD3A	55210	broad.mit.edu	37	1	1459303	1459303	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:1459303A>T	ENST00000378755.5	+	10	1286	c.1192A>T	c.(1192-1194)Atg>Ttg	p.M398L	ATAD3A_ENST00000536055.1_Missense_Mutation_p.M271L|ATAD3A_ENST00000378756.3_Missense_Mutation_p.M350L	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	398					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.M398L(1)		endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		GAACATCCTGATGTACGGGCC	0.642																																						uc001afz.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1192-1194)ATG>TTG		ATPase family, AAA domain containing 3A							109.0	104.0	105.0					1																	1459303		2203	4300	6503	SO:0001583	missense	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1459303A>T	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1192A>T	1.37:g.1459303A>T	ENSP00000368030:p.Met398Leu					ATAD3A_uc001aga.1_Missense_Mutation_p.M350L|ATAD3A_uc001agb.1_Missense_Mutation_p.M271L	p.M398L	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	10	1286	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	398					B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	ENST00000378755.5	37	c.1192A>T	CCDS31.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	0.018|0.018	-1.468895|-1.468895	0.01053|0.01053	.|.	.|.	ENSG00000197785|ENSG00000197785	ENST00000339113|ENST00000378756;ENST00000378755;ENST00000378759;ENST00000536055	.|T;T;T	.|0.65178	.|-0.14;-0.14;-0.14	4.7|4.7	2.37|2.37	0.29283|0.29283	.|ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	.|0.087629	.|0.85682	.|D	.|0.000000	T|T	0.13798|0.13798	0.0334|0.0334	N|N	0.00036|0.00036	-2.535|-2.535	0.45183|0.45183	D|D	0.998193|0.998193	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.08055	.|0.003;0.003	T|T	0.37361|0.37361	-0.9709|-0.9709	5|10	.|0.02654	.|T	.|1	.|.	6.8339|6.8339	0.23925|0.23925	0.7675:0.1521:0.0805:0.0|0.7675:0.1521:0.0805:0.0	.|.	.|350;398	.|D2K8Q1;Q9NVI7	.|.;ATD3A_HUMAN	V|L	335|350;398;1;271	.|ENSP00000368031:M350L;ENSP00000368030:M398L;ENSP00000439290:M271L	.|ENSP00000368030:M398L	D|M	+|+	2|1	0|0	ATAD3A|ATAD3A	1449166|1449166	1.000000|1.000000	0.71417|0.71417	0.192000|0.192000	0.23308|0.23308	0.013000|0.013000	0.08279|0.08279	4.886000|4.886000	0.63149|0.63149	0.195000|0.195000	0.20347|0.20347	-0.373000|-0.373000	0.07131|0.07131	GAT|ATG		PASS	0.642	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		56	55	56	55	---	---	---	---
HNRNPCL1	343069	broad.mit.edu	37	1	12907697	12907697	+	Nonsense_Mutation	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:12907697G>C	ENST00000317869.6	-	2	671	c.446C>G	c.(445-447)tCa>tGa	p.S149*		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	149						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S149*(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GGTGTTTCCTGATAGACGTTG	0.498																																						uc009vno.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(445-447)TCA>TGA		heterogeneous nuclear ribonucleoprotein C-like							124.0	130.0	128.0					1																	12907697		2202	4296	6498	SO:0001587	stop_gained	649330						nucleic acid binding|nucleotide binding	g.chr1:12907697G>C	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.446C>G	1.37:g.12907697G>C	ENSP00000365370:p.Ser149*					HNRNPCL1_uc010obf.1_Nonsense_Mutation_p.S149*	p.S149*	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN			1	541	-			149					B2RP44	Nonsense_Mutation	SNP	ENST00000317869.6	37	c.446C>G	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	15.79	2.937545	0.52972	.	.	ENSG00000179172	ENST00000317869	.	.	.	1.09	-0.014	0.13982	.	0.269487	0.28583	U	0.014836	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	6.117	0.20132	0.0:0.0:0.6997:0.3002	.	.	.	.	X	149	.	ENSP00000365370:S149X	S	-	2	0	HNRNPCL1	12830284	1.000000	0.71417	0.017000	0.16124	0.011000	0.07611	2.151000	0.42263	0.010000	0.14839	0.416000	0.27883	TCA		PASS	0.498	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		55	156	55	156	---	---	---	---
C1QA	712	broad.mit.edu	37	1	22965844	22965844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:22965844C>T	ENST00000374642.3	+	3	886	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	C1QA_ENST00000402322.1_Nonsense_Mutation_p.Q228*	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	228	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)		p.Q228*(1)		autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCACATTTACCAGGGCTCTGA	0.602																																						uc001bfy.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(682-684)CAG>TAG		complement component 1, q subcomponent, A chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						45.0	49.0	48.0					1																	22965844		2203	4300	6503	SO:0001587	stop_gained	712				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22965844C>T	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"""Complement system"""	1241	protein-coding gene	gene with protein product		120550	"""complement component 1, q subcomponent, alpha polypeptide"""			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.682C>T	1.37:g.22965844C>T	ENSP00000363773:p.Gln228*					C1QA_uc001bfz.2_Nonsense_Mutation_p.Q228*	p.Q228*	NM_015991	NP_057075	P02745	C1QA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	3	767	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	228			C1q.		B2R4X2|Q5T963	Nonsense_Mutation	SNP	ENST00000374642.3	37	c.682C>T	CCDS226.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371721	0.24857	.	.	ENSG00000173372	ENST00000374642;ENST00000402322	.	.	.	5.55	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-7.9037	12.5521	0.56231	0.2011:0.7989:0.0:0.0	.	.	.	.	X	228	.	ENSP00000363773:Q228X	Q	+	1	0	C1QA	22838431	0.058000	0.20735	1.000000	0.80357	0.037000	0.13140	0.283000	0.18846	2.607000	0.88179	0.561000	0.74099	CAG		PASS	0.602	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	NM_015991		26	57	26	57	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34042934	34042934	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:34042934C>T	ENST00000373381.4	-	49	7714	c.7538G>A	c.(7537-7539)gGc>gAc	p.G2513D		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2515	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G2515D(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGGTGGTAGCCCTGGGGGTG	0.617																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(7543-7545)GGC>GAC		CUB and Sushi multiple domains 2							73.0	72.0	72.0					1																	34042934		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34042934C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7538G>A	1.37:g.34042934C>T	ENSP00000362479:p.Gly2513Asp					CSMD2_uc001bxm.1_Missense_Mutation_p.G2513D	p.G2515D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			50	7573	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2515			Sushi 14.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.7544G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.157583	0.94686	.	.	ENSG00000121904	ENST00000373381	T	0.62941	-0.01	5.45	5.45	0.79879	Complement control module (2);Sushi/SCR/CCP (3);	0.060831	0.64402	D	0.000003	T	0.78892	0.4355	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78314	-0.2252	10	0.45353	T	0.12	.	18.2782	0.90089	0.0:1.0:0.0:0.0	.	2515;2513	Q7Z408;E7EUA6	CSMD2_HUMAN;.	D	2513	ENSP00000362479:G2513D	ENSP00000241312:G2515D	G	-	2	0	CSMD2	33815521	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.055000	0.71103	2.569000	0.86673	0.563000	0.77884	GGC		PASS	0.617	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		31	94	31	94	---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35350614	35350614	+	Silent	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:35350614G>A	ENST00000373347.1	-	8	2233	c.1965C>T	c.(1963-1965)ttC>ttT	p.F655F	DLGAP3_ENST00000235180.4_Silent_p.F655F			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	655					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.F655F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CAATAGAGTGGAACTCCCTCC	0.597																																						uc001byc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1963-1965)TTC>TTT		discs, large (Drosophila) homolog-associated							116.0	110.0	112.0					1																	35350614		2203	4300	6503	SO:0001819	synonymous_variant	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35350614G>A	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1965C>T	1.37:g.35350614G>A							p.F655F	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			6	1965	-		Myeloproliferative disorder(586;0.0393)	655					Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	37	c.1965C>T	CCDS30670.1																																																																																				PASS	0.597	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		37	35	37	35	---	---	---	---
TRIT1	54802	broad.mit.edu	37	1	40319707	40319707	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:40319707T>C	ENST00000316891.5	-	3	363	c.349A>G	c.(349-351)Att>Gtt	p.I117V	TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.I117V|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000544981.1_Missense_Mutation_p.I117V|TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000541099.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	117					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)	p.I117V(1)		breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCCACAACAATAGGAATTTTG	0.373																																						uc010oiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(349-351)ATT>GTT		tRNA isopentenyltransferase 1 precursor							111.0	108.0	109.0					1																	40319707		2203	4300	6503	SO:0001583	missense	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40319707T>C	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.349A>G	1.37:g.40319707T>C	ENSP00000321810:p.Ile117Val					TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_5'UTR|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_5'UTR|TRIT1_uc001ceh.3_5'UTR|TRIT1_uc009vvv.2_5'UTR|TRIT1_uc001cei.3_5'UTR|TRIT1_uc001ceq.2_Intron|TRIT1_uc001cek.2_Intron|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Intron|TRIT1_uc001cen.2_Intron|TRIT1_uc001ceo.2_Intron|TRIT1_uc001cep.2_Intron|TRIT1_uc010oja.1_RNA	p.I117V	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		3	363	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	117					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	c.349A>G	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.984514	0.35036	.	.	ENSG00000043514	ENST00000046894;ENST00000316891;ENST00000372818;ENST00000544981	T;T;T	0.46063	0.88;0.88;0.88	5.48	5.48	0.80851	.	0.103075	0.64402	D	0.000003	T	0.50803	0.1637	L	0.46819	1.47	0.53005	D	0.999969	B	0.34161	0.439	P	0.47786	0.557	T	0.48387	-0.9040	10	0.39692	T	0.17	-13.4934	15.5645	0.76281	0.0:0.0:0.0:1.0	.	117	Q9H3H1	MOD5_HUMAN	V	117	ENSP00000321810:I117V;ENSP00000361905:I117V;ENSP00000442765:I117V	ENSP00000046894:I117V	I	-	1	0	TRIT1	40092294	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.889000	0.63171	2.078000	0.62432	0.460000	0.39030	ATT		PASS	0.373	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		67	35	67	35	---	---	---	---
ZSWIM5	57643	broad.mit.edu	37	1	45501723	45501723	+	Silent	SNP	A	A	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:45501723A>G	ENST00000359600.5	-	9	2348	c.2143T>C	c.(2143-2145)Tta>Cta	p.L715L	AL359473.1_ENST00000583502.1_RNA	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	715						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)	p.L715L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCCAGCAGTAAGATGCATTGT	0.488																																						uc001cnd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2143-2145)TTA>CTA		zinc finger, SWIM domain containing 5							128.0	122.0	124.0					1																	45501723		2027	4187	6214	SO:0001819	synonymous_variant	57643						zinc ion binding	g.chr1:45501723A>G	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2143T>C	1.37:g.45501723A>G							p.L715L	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			9	2371	-	Acute lymphoblastic leukemia(166;0.155)		715					Q5SXQ9	Silent	SNP	ENST00000359600.5	37	c.2143T>C	CCDS41319.1																																																																																				PASS	0.488	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		60	46	60	46	---	---	---	---
ROR1	4919	broad.mit.edu	37	1	64643964	64643964	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:64643964G>A	ENST00000371079.1	+	9	2615	c.2240G>A	c.(2239-2241)cGg>cAg	p.R747Q	ROR1_ENST00000545203.1_Missense_Mutation_p.R198Q	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	747					peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.R747Q(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GTCCGGCTTCGGTCCTGGGAG	0.512																																						uc001dbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						c.(2239-2241)CGG>CAG		receptor tyrosine kinase-like orphan receptor 1							58.0	62.0	60.0					1																	64643964		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64643964G>A	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.2240G>A	1.37:g.64643964G>A	ENSP00000360120:p.Arg747Gln					uc001dbm.2_5'Flank	p.R747Q	NM_005012	NP_005003	Q01973	ROR1_HUMAN			9	2639	+			747			Cytoplasmic (Potential).		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.2240G>A	CCDS626.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862854	0.51482	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	T;T	0.62105	0.05;0.05	5.98	5.98	0.97165	.	0.000000	0.40469	N	0.001084	T	0.39009	0.1062	L	0.28504	0.86	0.80722	D	1	D	0.55172	0.97	B	0.36922	0.236	T	0.34675	-0.9819	10	0.33940	T	0.23	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	747	Q01973	ROR1_HUMAN	Q	747;750;198	ENSP00000360120:R747Q;ENSP00000441637:R198Q	ENSP00000360120:R747Q	R	+	2	0	ROR1	64416552	1.000000	0.71417	0.970000	0.41538	0.898000	0.52572	9.476000	0.97823	2.847000	0.97988	0.591000	0.81541	CGG		PASS	0.512	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		19	70	19	70	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70397238	70397238	+	Silent	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:70397238T>C	ENST00000035383.5	+	6	612	c.582T>C	c.(580-582)aaT>aaC	p.N194N	LRRC7_ENST00000310961.5_Silent_p.N199N|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	194						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.N194N(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAGGCAATAATGAATTCGGTG	0.388																																						uc001dep.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(580-582)AAT>AAC		leucine rich repeat containing 7							96.0	89.0	92.0					1																	70397238		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70397238T>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.582T>C	1.37:g.70397238T>C						LRRC7_uc009wbg.2_5'UTR	p.N194N	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			6	612	+			194			LRR 8.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.582T>C	CCDS645.1																																																																																				PASS	0.388	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		12	47	12	47	---	---	---	---
ELTD1	64123	broad.mit.edu	37	1	79404932	79404932	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:79404932C>A	ENST00000370742.3	-	4	400	c.337G>T	c.(337-339)Gca>Tca	p.A113S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	113					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.A113S(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGGCAGTTTGCATTCACATTT	0.249																																						uc001diq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(337-339)GCA>TCA		EGF, latrophilin and seven transmembrane domain							40.0	40.0	40.0					1																	79404932		1782	4028	5810	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79404932C>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.337G>T	1.37:g.79404932C>A	ENSP00000359778:p.Ala113Ser						p.A113S	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	4	493	-			113			Extracellular (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.337G>T	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537824	0.27475	.	.	ENSG00000162618	ENST00000370742	T	0.36520	1.25	6.07	-3.89	0.04193	.	1.012140	0.07874	N	0.968384	T	0.07188	0.0182	L	0.40543	1.245	0.20638	N	0.999879	B	0.16802	0.019	B	0.12156	0.007	T	0.30031	-0.9992	9	.	.	.	.	0.6337	0.00799	0.3329:0.2835:0.1124:0.2711	.	113	Q9HBW9	ELTD1_HUMAN	S	113	ENSP00000359778:A113S	.	A	-	1	0	ELTD1	79177520	0.000000	0.05858	0.075000	0.20258	0.925000	0.55904	-0.447000	0.06828	-1.131000	0.02910	-0.302000	0.09304	GCA		PASS	0.249	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		15	31	15	31	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86306958	86306958	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:86306958A>T	ENST00000370571.2	-	42	3940	c.3574T>A	c.(3574-3576)Tac>Aac	p.Y1192N	COL24A1_ENST00000436319.1_Missense_Mutation_p.Y1192N	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1192	Collagen-like 12.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.Y1192N(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCTCCTGGGTAGCCCTAAAAT	0.328																																						uc001dlj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3574-3576)TAC>AAC		collagen, type XXIV, alpha 1 precursor							42.0	39.0	40.0					1																	86306958		1809	4075	5884	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86306958A>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3574T>A	1.37:g.86306958A>T	ENSP00000359603:p.Tyr1192Asn					COL24A1_uc001dli.2_Missense_Mutation_p.Y328N|COL24A1_uc010osd.1_Missense_Mutation_p.Y492N|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	p.Y1192N	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	42	3616	-			1192			Collagen-like 12.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.3574T>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.628575	0.28978	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;D	0.93426	2.86;-3.22	5.2	4.06	0.47325	.	0.237534	0.21964	N	0.066542	D	0.83885	0.5351	N	0.14661	0.345	0.50171	D	0.999855	B;B	0.30973	0.302;0.156	B;B	0.43155	0.41;0.211	T	0.80202	-0.1480	10	0.36615	T	0.2	.	10.2399	0.43305	0.9198:0.0:0.0802:0.0	.	1192;1192	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	N	1192	ENSP00000359603:Y1192N;ENSP00000392531:Y1192N	ENSP00000359603:Y1192N	Y	-	1	0	COL24A1	86079546	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.776000	0.68924	0.807000	0.34208	0.455000	0.32223	TAC		PASS	0.328	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		27	23	27	23	---	---	---	---
DPYD	1806	broad.mit.edu	37	1	98157303	98157303	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:98157303C>A	ENST00000370192.3	-	7	832	c.732G>T	c.(730-732)gaG>gaT	p.E244D	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	244					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.E244D(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTAGCTCAATCTCAAAATTCA	0.368																																						uc001drv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(730-732)GAG>GAT		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						100.0	101.0	101.0					1																	98157303		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98157303C>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.732G>T	1.37:g.98157303C>A	ENSP00000359211:p.Glu244Asp					DPYD_uc010oub.1_RNA	p.E244D	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	7	869	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	244					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.732G>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133312	0.56828	.	.	ENSG00000188641	ENST00000370192	D	0.94862	-3.54	5.03	3.14	0.36123	.	0.000000	0.85682	D	0.000000	D	0.92097	0.7495	L	0.56340	1.77	0.80722	D	1	B	0.31769	0.339	P	0.48524	0.58	D	0.90481	0.4460	10	0.87932	D	0	-19.0871	6.914	0.24349	0.0:0.5953:0.0:0.4047	.	244	Q12882	DPYD_HUMAN	D	244	ENSP00000359211:E244D	ENSP00000359211:E244D	E	-	3	2	DPYD	97929891	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.822000	0.39052	0.625000	0.30304	0.460000	0.39030	GAG		PASS	0.368	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		43	48	43	48	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103380351	103380351	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:103380351C>G	ENST00000370096.3	-	51	4145	c.3833G>C	c.(3832-3834)aGa>aCa	p.R1278T	COL11A1_ENST00000353414.4_Missense_Mutation_p.R1239T|COL11A1_ENST00000512756.1_Missense_Mutation_p.R1162T|COL11A1_ENST00000358392.2_Missense_Mutation_p.R1290T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1278	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.R1278T(1)|p.R1290T(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTCTCTCCTCTTTCTCCTTT	0.453																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3832-3834)AGA>ACA		alpha 1 type XI collagen isoform A							43.0	42.0	43.0					1																	103380351		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103380351C>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3833G>C	1.37:g.103380351C>G	ENSP00000359114:p.Arg1278Thr					COL11A1_uc001duk.2_Missense_Mutation_p.R474T|COL11A1_uc001dum.2_Missense_Mutation_p.R1290T|COL11A1_uc001dun.2_Missense_Mutation_p.R1239T|COL11A1_uc009weh.2_Missense_Mutation_p.R1162T	p.R1278T	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	51	4151	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1278			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3833G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614785	0.46631	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.94330	-3.4;-3.2;-3.22;-3.22	5.73	5.73	0.89815	.	0.054398	0.64402	D	0.000001	D	0.93638	0.7968	L	0.43598	1.365	0.80722	D	1	D;D;P;D;D	0.67145	0.987;0.996;0.864;0.993;0.981	D;D;P;D;D	0.77557	0.942;0.99;0.706;0.977;0.962	D	0.90218	0.4269	10	0.12766	T	0.61	.	19.8928	0.96935	0.0:1.0:0.0:0.0	.	1162;1239;1290;1278;498	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	T	1278;1290;1239;498;1162	ENSP00000359114:R1278T;ENSP00000351163:R1290T;ENSP00000302551:R1239T;ENSP00000426533:R1162T	ENSP00000302551:R1239T	R	-	2	0	COL11A1	103152939	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.540000	0.60664	2.713000	0.92767	0.591000	0.81541	AGA		PASS	0.453	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	17	5	17	---	---	---	---
PHTF1	10745	broad.mit.edu	37	1	114269168	114269168	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:114269168C>A	ENST00000369604.1	-	6	843	c.360G>T	c.(358-360)atG>atT	p.M120I	PHTF1_ENST00000369596.2_Missense_Mutation_p.M67I|PHTF1_ENST00000369600.1_Missense_Mutation_p.M67I|PHTF1_ENST00000393357.2_Missense_Mutation_p.M120I|PHTF1_ENST00000447664.2_Missense_Mutation_p.M120I|PHTF1_ENST00000357783.2_Missense_Mutation_p.M120I|PHTF1_ENST00000369598.1_Missense_Mutation_p.M120I			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	120					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M120I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCACAATAGGCATCATCAAAT	0.328																																						uc009wgp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(358-360)ATG>ATT		putative homeodomain transcription factor 1							111.0	101.0	104.0					1																	114269168		2203	4300	6503	SO:0001583	missense	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114269168C>A	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.360G>T	1.37:g.114269168C>A	ENSP00000358617:p.Met120Ile					PHTF1_uc001edn.2_Missense_Mutation_p.M120I|PHTF1_uc010own.1_Missense_Mutation_p.M120I|PHTF1_uc001edp.2_Missense_Mutation_p.M120I	p.M120I	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	812	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	120					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	c.360G>T	CCDS861.1	.	.	.	.	.	.	.	.	.	.	C	9.701	1.154369	0.21371	.	.	ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783;ENST00000447664	.	.	.	5.12	5.12	0.69794	Transcription factor homeodomain, male germ-cell (1);	0.097775	0.64402	D	0.000001	T	0.27524	0.0676	N	0.16307	0.4	0.47862	D	0.999536	B;B;B;B	0.31153	0.001;0.051;0.31;0.123	B;B;B;B	0.31016	0.002;0.048;0.123;0.067	T	0.15065	-1.0450	9	0.15499	T	0.54	-10.052	18.5262	0.90973	0.0:1.0:0.0:0.0	.	120;120;120;120	F5H7M5;Q9UMS5;B4DGS8;Q9UMS5-2	.;PHTF1_HUMAN;.;.	I	120;120;67;120;67;120;120;120	.	ENSP00000350428:M120I	M	-	3	0	PHTF1	114070691	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	1.634000	0.37123	2.560000	0.86352	0.655000	0.94253	ATG		PASS	0.328	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		46	38	46	38	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145112467	145112467	+	RNA	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:145112467G>C	ENST00000453618.1	+	0	768							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											ATGTGCAGAGGATCATGGTGG	0.408																																						uc001eml.1																			0					0						c.(439-441)AGG>AGC		SEC22 vesicle trafficking protein homolog B							192.0	179.0	183.0					1																	145112467		2122	4242	6364			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145112467G>C	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145112467G>C						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	p.R147S	NM_004892	NP_004883	O75396	SC22B_HUMAN			6	581	+			147			v-SNARE coiled-coil homology.|Cytoplasmic (Potential).		A8K1G0	Missense_Mutation	SNP	ENST00000453618.1	37	c.441G>C																																																																																					PASS	0.408	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		14	273	14	273	---	---	---	---
NOTCH2NL	388677	broad.mit.edu	37	1	145273192	145273192	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:145273192G>T	ENST00000369340.3	+	4	490	c.46G>T	c.(46-48)Gaa>Taa	p.E16*	RP11-458D21.5_ENST00000468030.1_Nonsense_Mutation_p.E16*|NOTCH2NL_ENST00000344859.3_Nonsense_Mutation_p.E16*|NOTCH2NL_ENST00000362074.6_Nonsense_Mutation_p.E16*			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	16	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.E16*(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CAGATGTCCAGAAGGCTTCTT	0.463																																						uc001emn.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(46-48)GAA>TAA		Notch homolog 2 N-terminal like protein							20.0	25.0	23.0					1																	145273192		2194	4261	6455	SO:0001587	stop_gained	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145273192G>T		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.46G>T	1.37:g.145273192G>T	ENSP00000358346:p.Glu16*					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Nonsense_Mutation_p.E16*|NOTCH2NL_uc001emo.2_Nonsense_Mutation_p.E16*|NOTCH2NL_uc010oyh.1_RNA	p.E16*	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			3	416	+			16			EGF-like 1.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Nonsense_Mutation	SNP	ENST00000369340.3	37	c.46G>T	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	32	5.186319	0.94885	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	.	.	.	2.75	2.75	0.32379	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	11.2552	0.49050	0.0:0.0:1.0:0.0	.	.	.	.	X	16	.	ENSP00000344557:E16X	E	+	1	0	NOTCH2NL	143984549	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	4.205000	0.58466	1.532000	0.49169	0.394000	0.25966	GAA		PASS	0.463	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		11	299	11	299	---	---	---	---
ADAR	103	broad.mit.edu	37	1	154574628	154574628	+	Nonsense_Mutation	SNP	T	T	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:154574628T>A	ENST00000368474.4	-	2	689	c.490A>T	c.(490-492)Aaa>Taa	p.K164*	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000292205.5_Nonsense_Mutation_p.K207*	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	164					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.K164*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GTCCCAAGTTTCCCAGACAGA	0.473																																						uc001ffh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(490-492)AAA>TAA		adenosine deaminase, RNA-specific isoform a							127.0	131.0	130.0					1																	154574628		2203	4300	6503	SO:0001587	stop_gained	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574628T>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.490A>T	1.37:g.154574628T>A	ENSP00000357459:p.Lys164*					ADAR_uc001ffj.2_Nonsense_Mutation_p.K164*|ADAR_uc001ffi.2_Nonsense_Mutation_p.K164*|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR	p.K164*	NM_001111	NP_001102	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	690	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		164			DRADA 1.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Nonsense_Mutation	SNP	ENST00000368474.4	37	c.490A>T	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.726957	0.30593	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	.	.	.	4.62	3.49	0.39957	.	1.046920	0.07365	N	0.884717	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9686	2.2295	0.03993	0.1543:0.0896:0.1595:0.5965	.	.	.	.	X	207;164;159	.	ENSP00000292205:K207X	K	-	1	0	ADAR	152841252	0.002000	0.14202	0.053000	0.19242	0.108000	0.19459	1.250000	0.32850	0.909000	0.36697	0.402000	0.26972	AAA		PASS	0.473	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		331	418	331	418	---	---	---	---
ADAR	103	broad.mit.edu	37	1	154574810	154574810	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:154574810C>T	ENST00000368474.4	-	2	507	c.308G>A	c.(307-309)gGg>gAg	p.G103E	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.G146E	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	103					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G103E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCTCTGGAGCCCCTGACTTCT	0.567																																						uc001ffh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(307-309)GGG>GAG		adenosine deaminase, RNA-specific isoform a							69.0	70.0	69.0					1																	154574810		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574810C>T	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.308G>A	1.37:g.154574810C>T	ENSP00000357459:p.Gly103Glu					ADAR_uc001ffj.2_Missense_Mutation_p.G103E|ADAR_uc001ffi.2_Missense_Mutation_p.G103E|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_Intron|ADAR_uc001ffn.1_Intron	p.G103E	NM_001111	NP_001102	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	508	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		103					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.308G>A	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396029	0.42512	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.12879	2.64;2.67;2.69	4.56	-4.15	0.03881	.	1.727610	0.02673	N	0.108757	T	0.05090	0.0136	L	0.34521	1.04	0.09310	N	1	P;P;P	0.50710	0.664;0.937;0.938	B;P;P	0.50754	0.346;0.649;0.601	T	0.11060	-1.0603	10	0.45353	T	0.12	-1.5139	2.1462	0.03788	0.2243:0.273:0.3474:0.1552	.	103;103;103	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	E	146;103;98	ENSP00000292205:G146E;ENSP00000357459:G103E;ENSP00000431794:G98E	ENSP00000292205:G146E	G	-	2	0	ADAR	152841434	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.434000	0.06939	-0.574000	0.05990	-1.108000	0.02087	GGG		PASS	0.567	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		107	144	107	144	---	---	---	---
FCRL1	115350	broad.mit.edu	37	1	157772251	157772251	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:157772251C>A	ENST00000368176.3	-	4	590	c.523G>T	c.(523-525)Gag>Tag	p.E175*	FCRL1_ENST00000491942.1_Nonsense_Mutation_p.E175*|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Nonsense_Mutation_p.E175*	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	175	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E175*(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCATCACTCTCCCTCACTGAA	0.488																																					GBM(54;482 1003 11223 30131 35730)	uc001frg.2																			2	Substitution - Nonsense(2)		lung(2)	skin(4)|ovary(3)	7						c.(523-525)GAG>TAG		Fc receptor-like 1 isoform 1 precursor							118.0	97.0	104.0					1																	157772251		2203	4300	6503	SO:0001587	stop_gained	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157772251C>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.523G>T	1.37:g.157772251C>A	ENSP00000357158:p.Glu175*					FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Nonsense_Mutation_p.E175*|FCRL1_uc001fri.2_Nonsense_Mutation_p.E175*|FCRL1_uc001frj.2_Intron	p.E175*	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	636	-	all_hematologic(112;0.0378)		175			Ig-like C2-type 2.|Extracellular (Potential).		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Nonsense_Mutation	SNP	ENST00000368176.3	37	c.523G>T	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.018023	0.35606	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	.	.	.	4.89	-2.97	0.05530	.	1.008970	0.07949	N	0.980561	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	7.7516	0.28901	0.0:0.2382:0.5661:0.1958	.	.	.	.	X	175	.	ENSP00000351039:E175X	E	-	1	0	FCRL1	156038875	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.312000	0.08113	-0.261000	0.09405	-0.345000	0.07892	GAG		PASS	0.488	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		198	198	198	198	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158645971	158645971	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:158645971G>T	ENST00000368147.4	-	8	1252	c.1072C>A	c.(1072-1074)Ctg>Atg	p.L358M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	358					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.L358M(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGGTGGCCAGGGCACGAATA	0.488																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1072-1074)CTG>ATG		spectrin, alpha, erythrocytic 1							148.0	141.0	143.0					1																	158645971		1905	4127	6032	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158645971G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1072C>A	1.37:g.158645971G>T	ENSP00000357129:p.Leu358Met						p.L358M	NM_003126	NP_003117	P02549	SPTA1_HUMAN			8	1271	-	all_hematologic(112;0.0378)		358			Spectrin 4.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1072C>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686673	0.29962	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56444	0.46;0.46	4.95	1.29	0.21616	.	0.000000	0.27227	N	0.020339	T	0.55386	0.1917	M	0.79805	2.47	0.31520	N	0.662462	D	0.64830	0.994	D	0.72982	0.979	T	0.51585	-0.8687	10	0.44086	T	0.13	.	7.3084	0.26461	0.6479:0.0:0.3521:0.0	.	358	P02549	SPTA1_HUMAN	M	358	ENSP00000357130:L358M;ENSP00000357129:L358M	ENSP00000357129:L358M	L	-	1	2	SPTA1	156912595	0.992000	0.36948	0.958000	0.39756	0.115000	0.19883	2.412000	0.44609	0.356000	0.24157	-0.768000	0.03414	CTG		PASS	0.488	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		278	264	278	264	---	---	---	---
OR6K2	81448	broad.mit.edu	37	1	158669554	158669554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:158669554C>A	ENST00000359610.2	-	1	932	c.889G>T	c.(889-891)Gaa>Taa	p.E297*		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E297*(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TCTTTTATTTCTTTATTCCTC	0.383																																						uc001fsu.1																			2	Substitution - Nonsense(2)		large_intestine(1)|lung(1)	pancreas(1)	1						c.(889-891)GAA>TAA		olfactory receptor, family 6, subfamily K,							69.0	69.0	69.0					1																	158669554		2203	4300	6503	SO:0001587	stop_gained	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669554C>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.889G>T	1.37:g.158669554C>A	ENSP00000352626:p.Glu297*						p.E297*	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	889	-	all_hematologic(112;0.0378)		297			Cytoplasmic (Potential).		B9EH33|Q6IFR6	Nonsense_Mutation	SNP	ENST00000359610.2	37	c.889G>T	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975294	0.92919	.	.	ENSG00000196171	ENST00000359610	.	.	.	4.81	4.81	0.61882	.	0.000000	0.42053	D	0.000770	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-5.6209	16.8028	0.85618	0.0:1.0:0.0:0.0	.	.	.	.	X	297	.	ENSP00000352626:E297X	E	-	1	0	OR6K2	156936178	0.994000	0.37717	1.000000	0.80357	0.940000	0.58332	3.559000	0.53756	2.468000	0.83385	0.561000	0.74099	GAA		PASS	0.383	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		62	96	62	96	---	---	---	---
OR10J3	441911	broad.mit.edu	37	1	159283910	159283910	+	Nonsense_Mutation	SNP	A	A	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:159283910A>T	ENST00000332217.5	-	1	539	c.540T>A	c.(538-540)tgT>tgA	p.C180*		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C180*(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GTCTCACATCACAGAAGAAGT	0.502																																						uc010piu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(538-540)TGT>TGA		olfactory receptor, family 10, subfamily J,							79.0	72.0	75.0					1																	159283910		2203	4300	6503	SO:0001587	stop_gained	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283910A>T		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.540T>A	1.37:g.159283910A>T	ENSP00000331789:p.Cys180*						p.C180*	NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN			1	540	-	all_hematologic(112;0.0429)		180			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000332217.5	37	c.540T>A	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.181151	0.78677	.	.	ENSG00000196266	ENST00000332217	.	.	.	5.2	1.66	0.24008	.	0.000000	0.35708	U	0.003035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6477	0.28329	0.7453:0.0:0.2547:0.0	.	.	.	.	X	180	.	ENSP00000331789:C180X	C	-	3	2	OR10J3	157550534	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.025000	0.41059	0.119000	0.18210	-0.441000	0.05720	TGT		PASS	0.502	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			70	93	70	93	---	---	---	---
OLFML2B	25903	broad.mit.edu	37	1	161976198	161976198	+	Silent	SNP	G	G	T	rs140833279		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:161976198G>T	ENST00000294794.3	-	4	1035	c.612C>A	c.(610-612)acC>acA	p.T204T	OLFML2B_ENST00000367940.2_Silent_p.T204T	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	204					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.T204T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TATTCATCTCGGTTCGAATTT	0.433																																						uc001gbu.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(610-612)ACC>ACA		olfactomedin-like 2B precursor							194.0	177.0	183.0					1																	161976198		2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161976198G>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.612C>A	1.37:g.161976198G>T						OLFML2B_uc010pkq.1_Silent_p.T204T	p.T204T	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		4	1036	-	all_hematologic(112;0.156)		204			Potential.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.612C>A	CCDS1236.1																																																																																				PASS	0.433	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		131	194	131	194	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176738762	176738762	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:176738762G>C	ENST00000367662.3	+	16	5507	c.4343G>C	c.(4342-4344)tGt>tCt	p.C1448S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1448	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C1448S(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGCTCACATGTTCTTCTGGG	0.478																																						uc001gkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4342-4344)TGT>TCT		pappalysin 2 isoform 1							120.0	112.0	115.0					1																	176738762		1893	4114	6007	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176738762G>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4343G>C	1.37:g.176738762G>C	ENSP00000356634:p.Cys1448Ser					PAPPA2_uc009www.2_RNA	p.C1448S	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			16	5507	+			1448			Sushi 1.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4343G>C	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937780	0.92458	.	.	ENSG00000116183	ENST00000367662	D	0.90563	-2.69	6.17	6.17	0.99709	Sushi/SCR/CCP (1);	0.000000	0.85682	D	0.000000	D	0.95787	0.8629	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95257	0.8365	10	0.72032	D	0.01	-14.222	20.4745	0.99168	0.0:0.0:1.0:0.0	.	1448	Q9BXP8	PAPP2_HUMAN	S	1448	ENSP00000356634:C1448S	ENSP00000356634:C1448S	C	+	2	0	PAPPA2	175005385	1.000000	0.71417	0.905000	0.35620	0.855000	0.48748	8.799000	0.91895	2.941000	0.99782	0.655000	0.94253	TGT		PASS	0.478	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			139	25	139	25	---	---	---	---
CFH	3075	broad.mit.edu	37	1	196682958	196682958	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:196682958G>A	ENST00000367429.4	+	10	1670	c.1430G>A	c.(1429-1431)tGc>tAc	p.C477Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	477	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.C477Y(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAATATCAATGCAAACTAGGA	0.343																																						uc001gtj.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|breast(1)	6						c.(1429-1431)TGC>TAC		complement factor H isoform a precursor							93.0	88.0	89.0					1																	196682958		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196682958G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1430G>A	1.37:g.196682958G>A	ENSP00000356399:p.Cys477Tyr						p.C477Y	NM_000186	NP_000177	P08603	CFAH_HUMAN			10	1670	+			477			Sushi 8.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.1430G>A	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	G	9.808	1.182383	0.21870	.	.	ENSG00000000971	ENST00000367429	D	0.99784	-6.74	5.23	4.32	0.51571	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.99829	0.9923	H	0.98594	4.275	0.39946	D	0.974479	P	0.40282	0.711	P	0.55577	0.779	D	0.96873	0.9641	9	0.87932	D	0	.	9.7628	0.40543	0.0959:0.0:0.9041:0.0	.	477	P08603	CFAH_HUMAN	Y	477	ENSP00000356399:C477Y	ENSP00000356399:C477Y	C	+	2	0	CFH	194949581	0.980000	0.34600	0.043000	0.18650	0.005000	0.04900	4.372000	0.59530	1.211000	0.43351	-0.229000	0.12294	TGC		PASS	0.343	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		22	88	22	88	---	---	---	---
DENND1B	163486	broad.mit.edu	37	1	197522230	197522230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:197522230G>A	ENST00000367396.3	-	16	1331	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	DENND1B_ENST00000400967.2_Nonsense_Mutation_p.R358*|DENND1B_ENST00000235453.4_Nonsense_Mutation_p.R358*	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	388	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R358*(1)|p.R388*(1)|p.R28*(1)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TTTGCCAGTCGACCATCGATA	0.299																																						uc001guf.3																			3	Substitution - Nonsense(3)		lung(3)		0						c.(1162-1164)CGA>TGA		DENN/MADD domain containing 1B isoform 2							83.0	78.0	79.0					1																	197522230		1819	4073	5892	SO:0001587	stop_gained	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197522230G>A	BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.1162C>T	1.37:g.197522230G>A	ENSP00000356366:p.Arg388*					DENND1B_uc010ppe.1_Nonsense_Mutation_p.R368*|DENND1B_uc010ppf.1_Intron|DENND1B_uc001gue.3_Nonsense_Mutation_p.R358*	p.R388*	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN			16	1500	-			388			dDENN.		B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Nonsense_Mutation	SNP	ENST00000367396.3	37	c.1162C>T	CCDS41452.2	.	.	.	.	.	.	.	.	.	.	G	39	7.456509	0.98296	.	.	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1292	18.2005	0.89836	0.0:0.0:1.0:0.0	.	.	.	.	X	28;388;368;358;388;358	.	ENSP00000235453:R358X	R	-	1	2	DENND1B	195788853	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.073000	0.57570	2.801000	0.96364	0.650000	0.86243	CGA		PASS	0.299	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086539.1	NM_144977		8	134	8	134	---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200587391	200587391	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:200587391T>C	ENST00000367350.4	-	2	899	c.461A>G	c.(460-462)aAt>aGt	p.N154S		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	154	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.N154S(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						AGAAACACCATTATTTTCTGT	0.358																																						uc010ppk.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(2)	7						c.(460-462)AAT>AGT		kinesin family member 14							82.0	86.0	85.0					1																	200587391		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200587391T>C	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.461A>G	1.37:g.200587391T>C	ENSP00000356319:p.Asn154Ser					KIF14_uc010ppj.1_5'UTR	p.N154S	NM_014875	NP_055690	Q15058	KIF14_HUMAN			2	900	-			154			Required for PRC1-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.461A>G	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	T	7.811	0.715606	0.15306	.	.	ENSG00000118193	ENST00000367350	T	0.73152	-0.72	5.68	-3.07	0.05363	.	1.690540	0.02784	N	0.121266	T	0.45796	0.1360	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.32613	-0.9900	10	0.06494	T	0.89	.	0.8825	0.01237	0.2941:0.1764:0.1018:0.4277	.	154	Q15058	KIF14_HUMAN	S	154	ENSP00000356319:N154S	ENSP00000356319:N154S	N	-	2	0	KIF14	198854014	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	0.083000	0.14871	-0.443000	0.07180	0.533000	0.62120	AAT		PASS	0.358	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		91	109	91	109	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204394051	204394051	+	Nonsense_Mutation	SNP	G	G	A	rs373485341		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:204394051G>A	ENST00000367187.3	-	34	5390	c.4834C>T	c.(4834-4836)Cga>Tga	p.R1612*	PIK3C2B_ENST00000424712.2_Nonsense_Mutation_p.R1584*|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1612					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R1612*(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCCAGCTCTCGCAGGCGGATG	0.637																																						uc001haw.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(4834-4836)CGA>TGA		phosphoinositide-3-kinase, class 2 beta		G	stop/ARG	0,4406		0,0,2203	75.0	63.0	67.0		4834	5.3	1.0	1		67	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	PIK3C2B	NM_002646.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1612/1635	204394051	1,13005	2203	4300	6503	SO:0001587	stop_gained	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204394051G>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.4834C>T	1.37:g.204394051G>A	ENSP00000356155:p.Arg1612*					PIK3C2B_uc010pqv.1_Nonsense_Mutation_p.R1584*	p.R1612*	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		34	5313	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1612					O95666|Q5SW99	Nonsense_Mutation	SNP	ENST00000367187.3	37	c.4834C>T	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	48	14.454868	0.99796	0.0	1.16E-4	ENSG00000133056	ENST00000367187;ENST00000424712	.	.	.	5.26	5.26	0.73747	.	0.577271	0.16995	N	0.191148	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	13.4422	0.61119	0.0:0.0:0.8431:0.1569	.	.	.	.	X	1612;1584	.	ENSP00000356155:R1612X	R	-	1	2	PIK3C2B	202660674	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	5.735000	0.68587	2.465000	0.83290	0.655000	0.94253	CGA		PASS	0.637	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		59	3	59	3	---	---	---	---
MAPKAPK2	9261	broad.mit.edu	37	1	206902762	206902763	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:206902762_206902763GC>TT	ENST00000367103.3	+	4	699_700	c.506_507GC>TT	c.(505-507)aGC>aTT	p.S169I	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.S169I	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.S169I(4)|p.S169S(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			ATCATGAAGAGCATCGGTGAGG	0.525																																						uc001hem.1																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)		0						c.(505-507)AGC>ATC|c.(505-507)AGC>AGT		mitogen-activated protein kinase-activated																																				SO:0001583	missense	9261				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr1:206902762G>T|g.chr1:206902763C>T	U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	Exception_encountered	1.37:g.206902762_206902763delinsTT	ENSP00000356070:p.Ser169Ile					MAPKAPK2_uc001hel.1_Missense_Mutation_p.S169I|MAPKAPK2_uc001hel.1_Silent_p.S169S	p.S169I|p.S169S	NM_032960	NP_116584	P49137	MAPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		4	792|793	+	Breast(84;0.183)		169			Protein kinase.		Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation|Silent	SNP	ENST00000367103.3	37	c.506G>T|c.507C>T	CCDS31001.1																																																																																				PASS	0.525	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759		235|233	41|40	233	40	---	---	---	---
CAMK1G	57172	broad.mit.edu	37	1	209785290	209785290	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:209785290G>A	ENST00000009105.1	+	11	1314	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	CAMK1G_ENST00000361322.2_Missense_Mutation_p.E357K			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	357						calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.E357K(1)		breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CACCATCACCGAGGCACCTGT	0.647																																					Ovarian(163;530 1939 9680 28669 48710)	uc001hhd.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1069-1071)GAG>AAG		calcium/calmodulin-dependent protein kinase IG							97.0	99.0	98.0					1																	209785290		2203	4300	6503	SO:0001583	missense	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209785290G>A		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.1069G>A	1.37:g.209785290G>A	ENSP00000009105:p.Glu357Lys					CAMK1G_uc001hhf.3_Missense_Mutation_p.E357K|CAMK1G_uc001hhe.2_Missense_Mutation_p.E357K	p.E357K	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	11	1171	+			357					Q86UH5|Q9Y3J7	Missense_Mutation	SNP	ENST00000009105.1	37	c.1069G>A	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320292	0.23994	.	.	ENSG00000008118	ENST00000009105;ENST00000361322	T;T	0.67523	-0.27;-0.27	5.46	2.18	0.27775	.	0.110341	0.40554	N	0.001075	T	0.32224	0.0822	N	0.02539	-0.55	0.09310	N	0.999997	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.24368	-1.0162	10	0.07482	T	0.82	.	7.6144	0.28150	0.1819:0.0:0.6832:0.135	.	357;357	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	K	357	ENSP00000009105:E357K;ENSP00000354861:E357K	ENSP00000009105:E357K	E	+	1	0	CAMK1G	207851913	0.122000	0.22280	0.376000	0.26042	0.315000	0.28087	1.947000	0.40293	0.685000	0.31468	0.558000	0.71614	GAG		PASS	0.647	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		76	116	76	116	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216270521	216270521	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:216270521T>A	ENST00000307340.3	-	22	5048	c.4662A>T	c.(4660-4662)gaA>gaT	p.E1554D	USH2A_ENST00000366943.2_Missense_Mutation_p.E1554D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1554	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.E1554D(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAATCAAACCTTCAGGCACTT	0.408										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(4660-4662)GAA>GAT		usherin isoform B							82.0	76.0	78.0					1																	216270521		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216270521T>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4662A>T	1.37:g.216270521T>A	ENSP00000305941:p.Glu1554Asp	HNSCC(13;0.011)					p.E1554D	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	22	5049	-			1554			Laminin G-like 1.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4662A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.960191	0.34565	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.77620	-1.11;-1.11	5.89	-2.85	0.05734	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.149480	0.30492	N	0.009516	T	0.44052	0.1275	N	0.05574	-0.02	0.29370	N	0.864095	B	0.17038	0.02	B	0.17433	0.018	T	0.28267	-1.0049	10	0.10377	T	0.69	.	0.5963	0.00736	0.2974:0.1349:0.2676:0.3001	.	1554	O75445	USH2A_HUMAN	D	1554	ENSP00000305941:E1554D;ENSP00000355910:E1554D	ENSP00000305941:E1554D	E	-	3	2	USH2A	214337144	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	0.477000	0.22196	-0.139000	0.11414	0.533000	0.62120	GAA		PASS	0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		100	26	100	26	---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229631744	229631744	+	Silent	SNP	C	C	A	rs147071617	byFrequency	TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:229631744C>A	ENST00000261396.3	-	7	961	c.870G>T	c.(868-870)acG>acT	p.T290T	NUP133_ENST00000537506.1_Silent_p.T274T	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	290					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.T290T(3)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TGTTTGAACTCGTCAGGCTAT	0.363																																						uc001htn.2																			3	Substitution - coding silent(3)		lung(2)|large_intestine(1)	breast(4)|skin(2)|ovary(1)	7						c.(868-870)ACG>ACT		nucleoporin 133kDa							95.0	91.0	92.0					1																	229631744		2203	4300	6503	SO:0001819	synonymous_variant	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229631744C>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.870G>T	1.37:g.229631744C>A							p.T290T	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			7	962	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	290					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	c.870G>T	CCDS1579.1																																																																																				PASS	0.363	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		3	117	3	117	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237947973	237947973	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:237947973G>A	ENST00000366574.2	+	90	13278	c.12961G>A	c.(12961-12963)Ggt>Agt	p.G4321S	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.G4327S|RYR2_ENST00000542537.1_Missense_Mutation_p.G4305S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4321					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G4319S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTCGTCGAAGGTGCTAAAAA	0.522																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12961-12963)GGT>AGT		cardiac muscle ryanodine receptor							78.0	76.0	77.0					1																	237947973		1928	4136	6064	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947973G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12961G>A	1.37:g.237947973G>A	ENSP00000355533:p.Gly4321Ser					RYR2_uc010pya.1_Missense_Mutation_p.G736S	p.G4321S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13081	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4321					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12961G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235620	0.39498	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96651	-4.08;-4.05;-4.07	5.11	4.17	0.49024	.	0.000000	0.64402	D	0.000004	D	0.96830	0.8965	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.981	D;P	0.91635	0.999;0.642	D	0.94469	0.7683	10	0.12430	T	0.62	-13.1785	14.1591	0.65434	0.0736:0.0:0.9264:0.0	.	1295;4321	B4DGV4;Q92736	.;RYR2_HUMAN	S	4321;4327;4305;1295	ENSP00000355533:G4321S;ENSP00000353174:G4327S;ENSP00000443798:G4305S	ENSP00000353174:G4327S	G	+	1	0	RYR2	236014596	1.000000	0.71417	0.977000	0.42913	0.032000	0.12392	6.510000	0.73729	2.657000	0.90304	0.655000	0.94253	GGT		PASS	0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		94	11	94	11	---	---	---	---
CEP170	9859	broad.mit.edu	37	1	243329385	243329385	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:243329385C>A	ENST00000366542.1	-	13	1928	c.1877G>T	c.(1876-1878)aGa>aTa	p.R626I	CEP170_ENST00000366543.1_Missense_Mutation_p.R528I|RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.R528I|CEP170_ENST00000490813.1_5'Flank	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	626						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.R626I(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GCCAGTACTTCTCACTGTCAT	0.413																																						uc001hzs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(1876-1878)AGA>ATA		centrosomal protein 170kDa isoform alpha							23.0	21.0	22.0					1																	243329385		1816	4083	5899	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243329385C>A	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1877G>T	1.37:g.243329385C>A	ENSP00000355500:p.Arg626Ile					CEP170_uc001hzt.2_Missense_Mutation_p.R528I|CEP170_uc001hzu.2_Missense_Mutation_p.R528I|CEP170_uc001hzv.1_Missense_Mutation_p.R4I	p.R626I	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	2285	-	all_neural(11;0.101)	all_cancers(173;0.003)	626					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.1877G>T	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.70|14.70	2.614827|2.614827	0.46631|0.46631	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543	.|T;T;T	.|0.49720	.|0.79;0.79;0.77	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|0.073354	.|0.53938	.|D	.|0.000050	.|T	.|0.57051	.|0.2027	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	.|D;D;D;P	.|0.76494	.|0.978;0.999;0.98;0.883	.|D;D;P;B	.|0.71870	.|0.914;0.975;0.845;0.379	.|T	.|0.54132	.|-0.8339	.|10	.|0.38643	.|T	.|0.18	-19.3139|-19.3139	11.088|11.088	0.48099|0.48099	0.0:0.9155:0.0:0.0845|0.0:0.9155:0.0:0.0845	.|.	.|589;528;528;626	.|B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.|.;.;.;CE170_HUMAN	X|I	590|626;528;528	.|ENSP00000355500:R626I;ENSP00000355502:R528I;ENSP00000355501:R528I	.|ENSP00000355500:R626I	E|R	-|-	1|2	0|0	CEP170|CEP170	241396008|241396008	1.000000|1.000000	0.71417|0.71417	0.658000|0.658000	0.29665|0.29665	0.848000|0.848000	0.48234|0.48234	1.287000|1.287000	0.33284|0.33284	2.389000|2.389000	0.81357|0.81357	0.484000|0.484000	0.47621|0.47621	GAA|AGA		PASS	0.413	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		41	1	41	1	---	---	---	---
OR1C1	26188	broad.mit.edu	37	1	247921531	247921531	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:247921531A>T	ENST00000408896.2	-	1	451	c.178T>A	c.(178-180)Tac>Aac	p.Y60N		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	60					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y60N(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGGAAGAAGTACATAGGGGAA	0.463																																						uc010pza.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(178-180)TAC>AAC		olfactory receptor, family 1, subfamily C,							82.0	79.0	80.0					1																	247921531		2108	4250	6358	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921531A>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.178T>A	1.37:g.247921531A>T	ENSP00000386138:p.Tyr60Asn						p.Y60N	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	178	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	60			Helical; Name=2; (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.178T>A	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.919989	0.52653	.	.	ENSG00000221888	ENST00000408896	T	0.15603	2.41	2.83	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.56396	0.1982	H	0.98559	4.265	0.33099	D	0.538941	D	0.89917	1.0	D	0.91635	0.999	T	0.75172	-0.3411	9	0.87932	D	0	.	10.918	0.47148	1.0:0.0:0.0:0.0	.	60	Q15619	OR1C1_HUMAN	N	60	ENSP00000386138:Y60N	ENSP00000386138:Y60N	Y	-	1	0	OR1C1	245988154	1.000000	0.71417	0.998000	0.56505	0.393000	0.30537	4.718000	0.61930	1.289000	0.44618	0.477000	0.44152	TAC		PASS	0.463	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			50	7	50	7	---	---	---	---
OR2T8	343172	broad.mit.edu	37	1	248085208	248085208	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:248085208G>A	ENST00000319968.4	+	1	889	c.889G>A	c.(889-891)Gga>Aga	p.G297R		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G297R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAGGTGAAGGGAGCCCTGAC	0.463																																						uc010pzc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(889-891)GGA>AGA		olfactory receptor, family 2, subfamily T,							155.0	150.0	152.0					1																	248085208		2203	4300	6503	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248085208G>A		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.889G>A	1.37:g.248085208G>A	ENSP00000326225:p.Gly297Arg						p.G297R	NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	889	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	297			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000319968.4	37	c.889G>A	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306927	0.40795	.	.	ENSG00000177462	ENST00000319968	T	0.34472	1.36	3.54	2.6	0.31112	.	0.280219	0.18762	U	0.131879	T	0.31009	0.0783	N	0.15975	0.35	0.09310	N	1	D	0.55172	0.97	P	0.57244	0.816	T	0.06285	-1.0835	10	0.33940	T	0.23	.	6.6675	0.23050	0.0989:0.0:0.7215:0.1796	.	297	A6NH00	OR2T8_HUMAN	R	297	ENSP00000326225:G297R	ENSP00000326225:G297R	G	+	1	0	OR2T8	246151831	0.001000	0.12720	0.010000	0.14722	0.669000	0.39330	0.971000	0.29396	0.654000	0.30846	0.536000	0.68110	GGA		PASS	0.463	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		227	36	227	36	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248344163	248344163	+	Silent	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:248344163C>T	ENST00000359682.2	+	1	876	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L292L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTACAGCCTCCGCAACAAGG	0.463																																						uc010pzf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(874-876)CTC>CTT		olfactory receptor, family 2, subfamily M,							181.0	171.0	174.0					1																	248344163		2203	4300	6503	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344163C>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.876C>T	1.37:g.248344163C>T							p.L292L	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	876	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		292			Helical; Name=7; (Potential).		A3KFT4	Silent	SNP	ENST00000359682.2	37	c.876C>T	CCDS31106.1																																																																																				PASS	0.463	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		75	230	75	230	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525318	248525318	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:248525318C>G	ENST00000366475.1	+	1	436	c.436C>G	c.(436-438)Ctt>Gtt	p.L146V		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L146V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAATTTTTCCTTCTAGCCAC	0.522																																						uc001ieh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(436-438)CTT>GTT		olfactory receptor, family 2, subfamily T,							168.0	165.0	166.0					1																	248525318		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525318C>G	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.436C>G	1.37:g.248525318C>G	ENSP00000355431:p.Leu146Val						p.L146V	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	436	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		146			Helical; Name=3; (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.436C>G	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	7.386	0.629707	0.14257	.	.	ENSG00000196944	ENST00000366475	T	0.13196	2.61	3.48	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.170123	0.28192	N	0.016259	T	0.17874	0.0429	M	0.65975	2.015	0.09310	N	1	P	0.38048	0.616	B	0.43360	0.417	T	0.08166	-1.0735	10	0.87932	D	0	.	6.7737	0.23609	0.1764:0.7253:0.0:0.0983	.	146	Q8NH00	OR2T4_HUMAN	V	146	ENSP00000355431:L146V	ENSP00000355431:L146V	L	+	1	0	OR2T4	246591941	0.000000	0.05858	0.153000	0.22517	0.504000	0.33889	-0.983000	0.03759	0.439000	0.26476	-0.347000	0.07816	CTT		PASS	0.522	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		294	38	294	38	---	---	---	---
KCNK3	3777	broad.mit.edu	37	2	26950669	26950670	+	Missense_Mutation	DNP	CT	CT	TG			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:26950669_26950670CT>TG	ENST00000302909.3	+	2	543_544	c.418_419CT>TG	c.(418-420)CTg>TGg	p.L140W		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	140					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)	p.L140R(1)|p.L140W(1)|p.L140L(1)		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	GAGGTACCTGCTGCACCGCGCC	0.624																																					GBM(80;1457 1631 27100 45946)	uc002rhn.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(418-420)CTG>TTG|c.(418-420)CTG>CGG		potassium channel, subfamily K, member 3																																				SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950669C>T|g.chr2:26950670T>G	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	Exception_encountered	2.37:g.26950669_26950670delinsTG	ENSP00000306275:p.Leu140Trp						p.L140L|p.L140R	NM_002246	NP_002237	O14649	KCNK3_HUMAN			2	581|582	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		140			Cytoplasmic (Potential).		Q53SU2	Silent|Missense_Mutation	SNP	ENST00000302909.3	37	c.418C>T|c.419T>G	CCDS1727.1																																																																																				PASS	0.624	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		110|111	19|18	110	18	---	---	---	---
PLEKHH2	130271	broad.mit.edu	37	2	43919696	43919696	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:43919696C>G	ENST00000282406.4	+	4	340	c.230C>G	c.(229-231)aCc>aGc	p.T77S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	77					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.T77S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATATTCAAACCAGTGAATCA	0.308																																						uc010yny.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(229-231)ACC>AGC		pleckstrin homology domain containing, family H							69.0	77.0	74.0					2																	43919696		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43919696C>G	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.230C>G	2.37:g.43919696C>G	ENSP00000282406:p.Thr77Ser					PLEKHH2_uc002rte.3_Missense_Mutation_p.T77S|PLEKHH2_uc002rtf.3_Missense_Mutation_p.T77S	p.T77S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			4	313	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	77			Potential.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.230C>G	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550508	0.45383	.	.	ENSG00000152527	ENST00000282406	T	0.10573	2.86	5.58	4.69	0.59074	.	0.128646	0.53938	D	0.000057	T	0.09730	0.0239	N	0.24115	0.695	0.34371	D	0.692035	B;B	0.31077	0.307;0.207	B;B	0.32928	0.038;0.155	T	0.16217	-1.0410	10	0.33940	T	0.23	-11.7765	16.5166	0.84302	0.0:0.869:0.131:0.0	.	77;77	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	S	77	ENSP00000282406:T77S	ENSP00000282406:T77S	T	+	2	0	PLEKHH2	43773200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.344000	0.59354	1.334000	0.45468	0.563000	0.77884	ACC		PASS	0.308	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		37	55	37	55	---	---	---	---
LRPPRC	10128	broad.mit.edu	37	2	44184548	44184548	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:44184548C>A	ENST00000260665.7	-	14	1682	c.1625G>T	c.(1624-1626)aGt>aTt	p.S542I		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	542					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.S542I(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGTAGGCTACTTCTTATAGA	0.388																																						uc002rtr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1624-1626)AGT>ATT		leucine-rich PPR motif-containing protein							110.0	95.0	100.0					2																	44184548		2203	4300	6503	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44184548C>A	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1625G>T	2.37:g.44184548C>A	ENSP00000260665:p.Ser542Ile					LRPPRC_uc010yob.1_Missense_Mutation_p.S442I	p.S542I	NM_133259	NP_573566	P42704	LPPRC_HUMAN			14	1683	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	542					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.1625G>T	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243482	0.22796	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.56776	0.44	6.01	0.955	0.19602	.	0.795910	0.12549	N	0.459278	T	0.44746	0.1308	L	0.29908	0.895	0.53005	D	0.999969	P;B	0.47409	0.895;0.128	P;B	0.50896	0.653;0.035	T	0.29822	-0.9999	10	0.38643	T	0.18	-6.3226	5.0149	0.14331	0.0:0.4739:0.2873:0.2389	.	442;542	F5H4J6;P42704	.;LPPRC_HUMAN	I	442;542	ENSP00000260665:S542I	ENSP00000260665:S542I	S	-	2	0	LRPPRC	44038052	0.004000	0.15560	0.798000	0.32154	0.057000	0.15508	-0.418000	0.07080	0.101000	0.17610	-0.182000	0.12963	AGT		PASS	0.388	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		95	112	95	112	---	---	---	---
LHCGR	3973	broad.mit.edu	37	2	48914948	48914948	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:48914948C>G	ENST00000294954.7	-	11	2009	c.1988G>C	c.(1987-1989)tGc>tCc	p.C663S	LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.C601S|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.C636S|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	663					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.C663S(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GCCATTTTTGCAGTTGGAGGT	0.423																																						uc002rwu.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(1987-1989)TGC>TCC		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						119.0	119.0	119.0					2																	48914948		2203	4300	6503	SO:0001583	missense	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48914948C>G		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1988G>C	2.37:g.48914948C>G	ENSP00000294954:p.Cys663Ser					GTF2A1L_uc002rwt.2_Intron	p.C663S	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	2058	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	663			Cytoplasmic (Potential).		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1988G>C	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	C	4.965	0.179206	0.09443	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.76060	-0.99;-0.81;-0.89	5.4	3.6	0.41247	.	0.517494	0.21394	N	0.075249	T	0.57213	0.2038	L	0.31526	0.94	0.29615	N	0.846663	B	0.11235	0.004	B	0.08055	0.003	T	0.47114	-0.9142	9	.	.	.	.	5.8613	0.18749	0.1409:0.6498:0.136:0.0733	.	663	P22888	LSHR_HUMAN	S	601;663;636	ENSP00000344301:C601S;ENSP00000294954:C663S;ENSP00000386033:C636S	.	C	-	2	0	LHCGR	48768452	0.459000	0.25768	1.000000	0.80357	0.970000	0.65996	0.121000	0.15667	0.832000	0.34804	-0.224000	0.12420	TGC		PASS	0.423	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		66	427	66	427	---	---	---	---
PUS10	150962	broad.mit.edu	37	2	61238926	61238926	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:61238926G>C	ENST00000316752.6	-	2	361	c.100C>G	c.(100-102)Cat>Gat	p.H34D	PUS10_ENST00000407787.1_Missense_Mutation_p.H34D|PUS10_ENST00000398658.2_Missense_Mutation_p.H34D	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	34					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.H34D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TAAGGTGCATGAAAATCCACA	0.353																																						uc010fci.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|kidney(1)	4						c.(100-102)CAT>GAT		pseudouridylate synthase 10							72.0	65.0	67.0					2																	61238926		2203	4300	6503	SO:0001583	missense	150962				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr2:61238926G>C	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.100C>G	2.37:g.61238926G>C	ENSP00000326003:p.His34Asp					PUS10_uc002sao.2_Missense_Mutation_p.H34D|PUS10_uc010ypk.1_5'UTR|PUS10_uc002sap.1_RNA|PUS10_uc002saq.1_RNA	p.H34D	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)		2	160	-			34					Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	37	c.100C>G	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597440	0.46318	.	.	ENSG00000162927	ENST00000316752;ENST00000407787;ENST00000421319;ENST00000398658	.	.	.	5.59	5.59	0.84812	.	0.247437	0.41605	D	0.000841	T	0.34600	0.0903	N	0.17474	0.49	0.28037	N	0.933897	B	0.20368	0.044	B	0.15870	0.014	T	0.16837	-1.0389	9	0.35671	T	0.21	-17.3984	17.0815	0.86600	0.0:0.0:1.0:0.0	.	34	Q3MIT2	PUS10_HUMAN	D	34	.	ENSP00000326003:H34D	H	-	1	0	PUS10	61092430	1.000000	0.71417	0.961000	0.40146	0.997000	0.91878	4.523000	0.60545	2.623000	0.88846	0.650000	0.86243	CAT		PASS	0.353	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709		26	66	26	66	---	---	---	---
ATP6V1B1	525	broad.mit.edu	37	2	71188824	71188824	+	Splice_Site	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:71188824G>T	ENST00000234396.4	+	8	858		c.e8+1		AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Splice_Site	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1						ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)	p.?(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						ATGACCCCACGTGAGCTTTCC	0.562																																						uc002shj.2																			1	Unknown(1)		lung(1)	skin(1)	1	GRCh37	CS991327	ATP6V1B1	S		c.e8+1		ATPase, H+ transporting, lysosomal 56/58kDa, V1							142.0	124.0	130.0					2																	71188824		2203	4300	6503	SO:0001630	splice_region_variant	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71188824G>T	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.785+1G>T	2.37:g.71188824G>T						ATP6V1B1_uc002shi.1_Silent_p.T262T|ATP6V1B1_uc010fdv.2_Splice_Site_p.T262_splice|ATP6V1B1_uc010fdw.2_Splice_Site|ATP6V1B1_uc010fdx.2_Splice_Site_p.T220_splice	p.T262_splice	NM_001692	NP_001683	P15313	VATB1_HUMAN			8	872	+								Q53FY0|Q6P4H6	Splice_Site	SNP	ENST00000234396.4	37	c.785_splice	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352018	0.82132	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9533	0.79861	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP6V1B1	71042332	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.269000	0.78482	2.630000	0.89119	0.650000	0.86243	.		PASS	0.562	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692	Intron	88	101	88	101	---	---	---	---
Unknown	0	broad.mit.edu	37	2	73928183	73928184	+	IGR	DNP	GC	GC	CT	rs558199997		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:73928183_73928184GC>CT								ALMS1P (15480 upstream) : TPRKB (28772 downstream)																							TCTACATACCGCGTCCAGGGTT	0.55																																						uc002sjk.1																			0					0						c.(250-252)CGG>GGG|c.(247-249)ACG>ACA		N-acetyltransferase 8B																																				SO:0001628	intergenic_variant	51471				gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity	g.chr2:73928183G>C|g.chr2:73928184C>T																													2.37:g.73928183_73928184delinsCT							p.R84G|p.T83T	NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN			2	285|284	-			84|83			N-acetyltransferase.			Missense_Mutation|Silent	SNP		37	c.250C>G|c.249G>A																																																																																				0	PASS	0.550									9	236|241	9	236	---	---	---	---
GCFC2	6936	broad.mit.edu	37	2	75921419	75921419	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:75921419T>C	ENST00000321027.3	-	6	1101	c.968A>G	c.(967-969)tAt>tGt	p.Y323C	GCFC2_ENST00000541687.1_3'UTR|GCFC2_ENST00000409857.3_Missense_Mutation_p.Y285C	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	323					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	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)	p.Y323C(1)									CATGCTTTTATAGAATTTACA	0.303																																						uc002sno.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(967-969)TAT>TGT		hypothetical protein LOC6936							105.0	114.0	111.0					2																	75921419		2203	4300	6503	SO:0001583	missense	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75921419T>C	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.968A>G	2.37:g.75921419T>C	ENSP00000318690:p.Tyr323Cys					C2orf3_uc010ffs.2_5'UTR|C2orf3_uc002snn.2_Missense_Mutation_p.Y154C|C2orf3_uc010fft.2_5'UTR	p.Y323C	NM_003203	NP_003194	P16383	GCF_HUMAN			6	1098	-			323					A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	c.968A>G	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.190375	0.58017	.	.	ENSG00000005436	ENST00000321027;ENST00000409857	T;T	0.18502	2.21;2.25	5.29	5.29	0.74685	.	0.213738	0.41294	D	0.000909	T	0.38746	0.1052	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.24261	-1.0165	10	0.72032	D	0.01	-16.7766	8.8913	0.35434	0.1665:0.0:0.0:0.8335	.	323	P16383	GCF_HUMAN	C	323;285	ENSP00000318690:Y323C;ENSP00000386552:Y285C	ENSP00000318690:Y323C	Y	-	2	0	C2orf3	75774927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.415000	0.34748	2.137000	0.66172	0.533000	0.62120	TAT		PASS	0.303	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		115	149	115	149	---	---	---	---
IL37	27178	broad.mit.edu	37	2	113676172	113676172	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:113676172A>G	ENST00000263326.3	+	5	485	c.443A>G	c.(442-444)gAa>gGa	p.E148G	IL37_ENST00000353225.3_Missense_Mutation_p.E108G|IL37_ENST00000349806.3_Missense_Mutation_p.E87G|IL37_ENST00000352179.3_Missense_Mutation_p.E127G|IL37_ENST00000311328.2_Missense_Mutation_p.E122G	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	148					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)	p.E148G(1)|p.E122G(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						GCCCAAAAGGAATCAGCACGC	0.532																																						uc002tij.2																			2	Substitution - Missense(2)		lung(2)		0						c.(442-444)GAA>GGA		interleukin 1 family, member 7 isoform 1							48.0	53.0	51.0					2																	113676172		2203	4300	6503	SO:0001583	missense	27178				immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding	g.chr2:113676172A>G	AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"""Interleukins and interleukin receptors"""	15563	protein-coding gene	gene with protein product	"""interleukin 1, zeta"", ""interleukin-1 homolog 4"", ""interleukin-1-related protein"""	605510	"""interleukin 1 family, member 7 (zeta)"""	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.443A>G	2.37:g.113676172A>G	ENSP00000263326:p.Glu148Gly					IL1F7_uc002tik.2_Missense_Mutation_p.E127G|IL1F7_uc002til.2_Missense_Mutation_p.E108G|IL1F7_uc002tim.2_Missense_Mutation_p.E87G|IL1F7_uc002tin.2_Missense_Mutation_p.E122G	p.E148G	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN			5	485	+			148					B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Missense_Mutation	SNP	ENST00000263326.3	37	c.443A>G	CCDS2103.1	.	.	.	.	.	.	.	.	.	.	a	13.65	2.301581	0.40694	.	.	ENSG00000125571	ENST00000263326;ENST00000352179;ENST00000349806;ENST00000353225;ENST00000311328	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	3.49	2.28	0.28536	.	1.468830	0.04657	N	0.408248	T	0.33118	0.0852	M	0.80183	2.485	0.09310	N	1	P;P;P;P;P	0.45474	0.813;0.774;0.859;0.597;0.649	B;B;B;B;B	0.44224	0.444;0.365;0.281;0.173;0.266	T	0.24190	-1.0167	10	0.72032	D	0.01	-5.4701	6.7657	0.23566	0.7587:0.2413:0.0:0.0	.	122;87;108;127;148	Q9NZH6-2;Q9NZH6-5;Q9NZH6-3;Q9NZH6-4;Q9NZH6	.;.;.;.;IL37_HUMAN	G	148;127;87;108;122	ENSP00000263326:E148G;ENSP00000263327:E127G;ENSP00000263328:E87G;ENSP00000309208:E108G;ENSP00000309883:E122G	ENSP00000263326:E148G	E	+	2	0	IL37	113392643	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.001000	0.12947	0.497000	0.27926	0.454000	0.30748	GAA		PASS	0.532	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254126.1	NM_014439		27	51	27	51	---	---	---	---
MARCO	8685	broad.mit.edu	37	2	119732098	119732098	+	Splice_Site	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:119732098C>T	ENST00000327097.4	+	6	705	c.570C>T	c.(568-570)ggC>ggT	p.G190G	MARCO_ENST00000541757.1_Splice_Site_p.G112G	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	190	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.G190G(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCCTTCCAGGCCCCTCGGGAC	0.542																																					GBM(8;18 374 7467 11269 32796)	uc002tln.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(568-570)GGC>GGT		macrophage receptor with collagenous structure							80.0	83.0	82.0					2																	119732098		2203	4300	6503	SO:0001630	splice_region_variant	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119732098C>T	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.569-1C>T	2.37:g.119732098C>T						MARCO_uc010yyf.1_Silent_p.G112G	p.G190G	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			6	702	+			190			Collagen-like.|Extracellular (Potential).		B4DW79|Q9Y5S3	Silent	SNP	ENST00000327097.4	37	c.570C>T	CCDS2124.1																																																																																				PASS	0.542	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	Silent	31	25	31	25	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125660653	125660653	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:125660653G>C	ENST00000431078.1	+	22	3992	c.3628G>C	c.(3628-3630)Gtg>Ctg	p.V1210L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1210					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.V1210L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGTGAATGCAGTGACCACGGT	0.522																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(3628-3630)GTG>CTG		contactin associated protein-like 5 precursor							57.0	56.0	56.0					2																	125660653		2097	4223	6320	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125660653G>C	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3628G>C	2.37:g.125660653G>C	ENSP00000399013:p.Val1210Leu					CNTNAP5_uc010flu.2_Missense_Mutation_p.V1211L	p.V1210L	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	22	3992	+			1210			Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.3628G>C	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251979	0.39797	.	.	ENSG00000155052	ENST00000431078	D	0.87412	-2.25	5.26	5.26	0.73747	.	0.150434	0.30068	N	0.010498	D	0.85115	0.5623	M	0.68317	2.08	0.33137	D	0.543804	B	0.24483	0.104	B	0.25140	0.058	T	0.81951	-0.0698	10	0.07644	T	0.81	.	17.8644	0.88792	0.0:0.0:1.0:0.0	.	1210	Q8WYK1	CNTP5_HUMAN	L	1210	ENSP00000399013:V1210L	ENSP00000399013:V1210L	V	+	1	0	CNTNAP5	125377123	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	3.282000	0.51693	2.470000	0.83445	0.561000	0.74099	GTG		PASS	0.522	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			5	6	5	6	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136566451	136566451	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:136566451G>T	ENST00000264162.2	-	8	3476	c.3466C>A	c.(3466-3468)Cac>Aac	p.H1156N	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1156	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.H1156N(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AAAATGGGGTGAGCAAACCAG	0.567																																						uc002tuu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(3466-3468)CAC>AAC		lactase-phlorizin hydrolase preproprotein							81.0	78.0	79.0					2																	136566451		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566451G>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3466C>A	2.37:g.136566451G>T	ENSP00000264162:p.His1156Asn						p.H1156N	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3477	-			1156			3.|Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3466C>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341411	0.60963	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.48836	0.8	5.37	5.37	0.77165	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	L	0.31294	0.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60214	-0.7307	10	0.48119	T	0.1	-33.7383	19.12	0.93358	0.0:0.0:1.0:0.0	.	1156	P09848	LPH_HUMAN	N	1156;588	ENSP00000264162:H1156N	ENSP00000264162:H1156N	H	-	1	0	LCT	136282921	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	9.869000	0.99810	2.497000	0.84241	0.563000	0.77884	CAC		PASS	0.567	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		73	80	73	80	---	---	---	---
TBR1	10716	broad.mit.edu	37	2	162280499	162280499	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:162280499G>T	ENST00000389554.3	+	6	2127	c.1810G>T	c.(1810-1812)Gcc>Tcc	p.A604S	AC009487.4_ENST00000444164.1_RNA|TBR1_ENST00000410035.1_Missense_Mutation_p.A317S|AC009487.4_ENST00000437683.1_RNA|AC009487.5_ENST00000505579.1_RNA	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	604					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A604S(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CGCCGAGGACGCCAAGCCCAA	0.721																																						uc002ubw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1810-1812)GCC>TCC		T-box, brain, 1							9.0	10.0	9.0					2																	162280499		2161	4247	6408	SO:0001583	missense	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162280499G>T	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1810G>T	2.37:g.162280499G>T	ENSP00000374205:p.Ala604Ser					TBR1_uc010foy.2_Missense_Mutation_p.A317S	p.A604S	NM_006593	NP_006584	Q16650	TBR1_HUMAN			6	2112	+			604					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	c.1810G>T	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	G	1.906	-0.451890	0.04572	.	.	ENSG00000136535	ENST00000389554;ENST00000539334;ENST00000410035	D;T	0.86097	-2.07;-1.45	4.01	3.04	0.35103	.	0.555417	0.17306	N	0.179076	T	0.66208	0.2766	N	0.14661	0.345	0.31300	N	0.688427	B	0.12630	0.006	B	0.08055	0.003	T	0.57522	-0.7797	10	0.09590	T	0.72	.	4.8902	0.13722	0.1174:0.0:0.5526:0.33	.	604	Q16650	TBR1_HUMAN	S	604;273;317	ENSP00000374205:A604S;ENSP00000387023:A317S	ENSP00000374205:A604S	A	+	1	0	TBR1	161988745	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.297000	0.43593	2.066000	0.61787	0.313000	0.20887	GCC		PASS	0.721	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		3	1	3	1	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162804167	162804167	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:162804167T>A	ENST00000446997.1	+	17	2288	c.2195T>A	c.(2194-2196)cTg>cAg	p.L732Q	SLC4A10_ENST00000421911.1_Missense_Mutation_p.L732Q|SLC4A10_ENST00000415876.2_Missense_Mutation_p.L702Q|SLC4A10_ENST00000272716.5_Missense_Mutation_p.L702Q|SLC4A10_ENST00000375514.5_Missense_Mutation_p.L713Q	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	732					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.L702Q(1)|p.L732Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TCTGTGATCCTGTTCTTTTCC	0.433																																						uc002ubx.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(2194-2196)CTG>CAG		solute carrier family 4, sodium bicarbonate							205.0	199.0	201.0					2																	162804167		1951	4132	6083	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162804167T>A		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2195T>A	2.37:g.162804167T>A	ENSP00000393066:p.Leu732Gln					SLC4A10_uc002uby.3_Missense_Mutation_p.L702Q|SLC4A10_uc010zcs.1_Missense_Mutation_p.L713Q	p.L732Q	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			17	2379	+			732			Helical; (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.2195T>A	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.822333	0.90873	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	5.62	5.62	0.85841	Bicarbonate transporter, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.95853	0.8650	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97323	0.9945	10	0.87932	D	0	.	15.8286	0.78733	0.0:0.0:0.0:1.0	.	713;702;732	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	Q	713;702;702;701;732;732;731	ENSP00000364664:L713Q;ENSP00000395797:L702Q;ENSP00000272716:L702Q;ENSP00000393066:L732Q;ENSP00000404486:L732Q	ENSP00000272716:L702Q	L	+	2	0	SLC4A10	162512413	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.040000	0.89188	2.141000	0.66446	0.460000	0.39030	CTG		PASS	0.433	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		94	80	94	80	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	167760266	167760266	+	Silent	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:167760266C>A	ENST00000409728.1	+	2	363	c.274C>A	c.(274-276)Cgg>Agg	p.R92R	XIRP2_ENST00000295237.9_Silent_p.R92R|XIRP2_ENST00000409195.1_Silent_p.R92R|XIRP2_ENST00000420519.1_Silent_p.R92R|XIRP2_ENST00000409043.1_Silent_p.R92R|XIRP2_ENST00000409756.2_Silent_p.R92R	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.R92R(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAATATGGTCGGCCAGAAGT	0.522																																						uc002udx.2																			2	Substitution - coding silent(2)		lung(2)	skin(7)|ovary(6)|pancreas(1)	14						c.(274-276)CGG>AGG		xin actin-binding repeat containing 2 isoform 1							97.0	99.0	98.0					2																	167760266		2011	4153	6164	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167760266C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.274C>A	2.37:g.167760266C>A						XIRP2_uc010fpn.2_Silent_p.R92R|XIRP2_uc010fpo.2_Silent_p.R92R|XIRP2_uc010fpp.2_Silent_p.R92R	p.R92R	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			1	292	+			Error:Variant_position_missing_in_A4UGR9_after_alignment					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409728.1	37	c.274C>A	CCDS56143.1																																																																																				PASS	0.522	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		35	28	35	28	---	---	---	---
TLK1	9874	broad.mit.edu	37	2	171863104	171863104	+	Silent	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:171863104G>A	ENST00000431350.2	-	17	2052	c.1648C>T	c.(1648-1650)Ctg>Ttg	p.L550L	TLK1_ENST00000434911.2_Silent_p.L454L|TLK1_ENST00000360843.3_Silent_p.L571L|TLK1_ENST00000442919.2_Silent_p.L502L|TLK1_ENST00000521943.1_Silent_p.L502L			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	550	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L550L(1)|p.L502L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGTTGCTTCAGATAGAAATCC	0.338																																						uc002ugn.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(1648-1650)CTG>TTG		tousled-like kinase 1 isoform 1							100.0	100.0	100.0					2																	171863104		2203	4299	6502	SO:0001819	synonymous_variant	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171863104G>A	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1648C>T	2.37:g.171863104G>A						TLK1_uc002ugo.2_Silent_p.L571L|TLK1_uc002ugp.2_Silent_p.L502L|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Silent_p.L454L	p.L550L	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN			17	2120	-			550			Protein kinase.		B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Silent	SNP	ENST00000431350.2	37	c.1648C>T	CCDS2241.1																																																																																				PASS	0.338	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		87	78	87	78	---	---	---	---
HOXD1	3231	broad.mit.edu	37	2	177054177	177054177	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:177054177G>C	ENST00000331462.4	+	1	871	c.648G>C	c.(646-648)aaG>aaC	p.K216N	HOXD-AS1_ENST00000436126.1_RNA|HOXD-AS1_ENST00000452365.1_RNA|HOXD-AS1_ENST00000425005.1_RNA|HOXD-AS1_ENST00000417086.1_RNA|HOXD-AS1_ENST00000413969.1_RNA	NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	216					embryonic skeletal system development (GO:0048706)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.K216N(1)|p.K155N(1)		kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		ATGCCTCTAAGAAAGGTAAGT	0.652																																						uc002ukv.3																			2	Substitution - Missense(2)		lung(2)		0						c.(646-648)AAG>AAC		homeobox D1							23.0	27.0	26.0					2																	177054177		2092	4092	6184	SO:0001583	missense	3231					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177054177G>C		CCDS2271.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128645	ENSG00000128645		"""Homeoboxes / ANTP class : HOXL subclass"""	5132	protein-coding gene	gene with protein product		142987	"""homeo box D1"""	HOX4, HOX4G		1973146, 1358459	Standard	NM_024501		Approved		uc002ukv.5	Q9GZZ0	OTTHUMG00000132512	ENST00000331462.4:c.648G>C	2.37:g.177054177G>C	ENSP00000328598:p.Lys216Asn					HOXD1_uc010fqy.2_Missense_Mutation_p.K216N|HOXD1_uc010zez.1_Missense_Mutation_p.K216N	p.K216N	NM_024501	NP_078777	Q9GZZ0	HXD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)	1	871	+			216					B2RAB4	Missense_Mutation	SNP	ENST00000331462.4	37	c.648G>C	CCDS2271.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831618	0.71258	.	.	ENSG00000128645	ENST00000331462;ENST00000375170	D	0.91521	-2.86	5.43	3.62	0.41486	.	0.139588	0.33057	N	0.005338	D	0.93969	0.8069	M	0.80508	2.5	0.49687	D	0.99981	D;D;D	0.76494	0.979;0.992;0.999	P;P;D	0.70935	0.702;0.9;0.971	D	0.92506	0.6012	10	0.56958	D	0.05	.	7.9794	0.30175	0.1526:0.1685:0.679:0.0	.	216;155;216	Q96CA4;Q8IZ25;Q9GZZ0	.;.;HXD1_HUMAN	N	216;155	ENSP00000328598:K216N	ENSP00000328598:K216N	K	+	3	2	HOXD1	176762423	0.411000	0.25384	0.989000	0.46669	0.877000	0.50540	0.373000	0.20484	0.653000	0.30826	0.561000	0.74099	AAG		PASS	0.652	HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255693.2			19	15	19	15	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179436113	179436113	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:179436113C>G	ENST00000591111.1	-	276	70047	c.69823G>C	c.(69823-69825)Gtt>Ctt	p.V23275L	TTN_ENST00000359218.5_Missense_Mutation_p.V15976L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V15851L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V16043L|TTN_ENST00000342992.6_Missense_Mutation_p.V22348L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V24916L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23275	Fibronectin type-III 69. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V22348L(1)|p.V15851L(1)|p.V15976L(1)|p.V22346L(1)|p.V16043L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGTGACAACTGGAGTGCCA	0.468																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	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.(67042-67044)GTT>CTT		titin isoform N2-A							112.0	105.0	107.0					2																	179436113		1946	4159	6105	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436113C>G	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.69823G>C	2.37:g.179436113C>G	ENSP00000465570:p.Val23275Leu					uc002umo.2_Intron|uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.V16043L|TTN_uc010zfi.1_Missense_Mutation_p.V15976L|TTN_uc010zfj.1_Missense_Mutation_p.V15851L	p.V22348L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	67266	-			23275					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.67042G>C		.	.	.	.	.	.	.	.	.	.	G	1.035	-0.680642	0.03353	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.39	1.45	0.22620	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.34745	0.0908	N	0.26042	0.785	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.29640	-1.0005	9	0.87932	D	0	.	3.2247	0.06728	0.5467:0.2482:0.0732:0.1319	.	15851;15976;16043;23275	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	22348;15851;16043;15976;15849	ENSP00000343764:V22348L;ENSP00000434586:V15851L;ENSP00000340554:V16043L;ENSP00000352154:V15976L	ENSP00000340554:V16043L	V	-	1	0	TTN	179144359	0.601000	0.26907	0.076000	0.20297	0.125000	0.20455	0.929000	0.28844	-0.180000	0.10637	-1.139000	0.01908	GTT		PASS	0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		52	145	52	145	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179634606	179634606	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:179634606A>T	ENST00000591111.1	-	37	8926	c.8702T>A	c.(8701-8703)tTt>tAt	p.F2901Y	TTN_ENST00000359218.5_Missense_Mutation_p.F2855Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F2855Y|TTN_ENST00000342175.6_Missense_Mutation_p.F2855Y|TTN_ENST00000342992.6_Missense_Mutation_p.F2901Y|TTN_ENST00000589042.1_Missense_Mutation_p.F2901Y|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.F2901Y			Q8WZ42	TITIN_HUMAN	titin	13231	Ig-like 16.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.F2855Y(3)|p.F2901Y(3)		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)			CTCACACTCAAAAGAGGCAGT	0.388																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	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.(8701-8703)TTT>TAT		titin isoform N2-A							106.0	107.0	107.0					2																	179634606		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179634606A>T	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.8702T>A	2.37:g.179634606A>T	ENSP00000465570:p.Phe2901Tyr					TTN_uc010zfh.1_Missense_Mutation_p.F2855Y|TTN_uc010zfi.1_Missense_Mutation_p.F2855Y|TTN_uc010zfj.1_Missense_Mutation_p.F2855Y|TTN_uc002unb.2_Missense_Mutation_p.F2901Y	p.F2901Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		37	8926	-			2901					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.8702T>A		.	.	.	.	.	.	.	.	.	.	A	16.24	3.066498	0.55539	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71	6.06	6.06	0.98353	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87042	0.6079	M	0.90019	3.08	0.35654	D	0.812036	D;D;D;D;D	0.89917	0.996;0.996;0.996;0.998;1.0	P;P;P;D;D	0.74023	0.908;0.908;0.908;0.949;0.982	D	0.92387	0.5918	9	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	2855;2855;2855;2901;2901	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Y	2901;2855;2855;2855;2855;2901	ENSP00000343764:F2901Y;ENSP00000434586:F2855Y;ENSP00000340554:F2855Y;ENSP00000352154:F2855Y;ENSP00000354117:F2901Y	ENSP00000340554:F2855Y	F	-	2	0	TTN	179342851	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.109000	0.94291	2.324000	0.78689	0.533000	0.62120	TTT		PASS	0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		64	158	64	158	---	---	---	---
NCKAP1	10787	broad.mit.edu	37	2	183822296	183822296	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:183822296A>G	ENST00000361354.4	-	19	2282	c.1910T>C	c.(1909-1911)aTc>aCc	p.I637T	NCKAP1_ENST00000360982.2_Missense_Mutation_p.I643T	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	637					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.I643T(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGCTTGACTGATAGTTTTGGC	0.378																																						uc002upc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1909-1911)ATC>ACC		NCK-associated protein 1 isoform 1							145.0	128.0	133.0					2																	183822296		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183822296A>G	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1910T>C	2.37:g.183822296A>G	ENSP00000355348:p.Ile637Thr					NCKAP1_uc002upb.2_Missense_Mutation_p.I643T	p.I637T	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		19	2312	-			637					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.1910T>C	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.687508	0.88639	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.32023	1.47;1.47	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.33702	0.0872	L	0.61387	1.9	0.80722	D	1	P;P	0.41232	0.743;0.698	B;B	0.38225	0.268;0.175	T	0.21008	-1.0258	10	0.52906	T	0.07	-11.2204	15.0992	0.72258	1.0:0.0:0.0:0.0	.	637;643	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	T	637;643	ENSP00000355348:I637T;ENSP00000354251:I643T	ENSP00000354251:I643T	I	-	2	0	NCKAP1	183530541	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.283000	0.95860	1.955000	0.56771	0.533000	0.62120	ATC		PASS	0.378	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		82	68	82	68	---	---	---	---
NRP2	8828	broad.mit.edu	37	2	206628623	206628623	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:206628623G>A	ENST00000357785.5	+	13	2301	c.2270G>A	c.(2269-2271)gGg>gAg	p.G757E	NRP2_ENST00000540178.1_Missense_Mutation_p.G757E|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000412873.2_Missense_Mutation_p.G757E|NRP2_ENST00000540841.1_Missense_Mutation_p.G757E|NRP2_ENST00000272849.3_Missense_Mutation_p.G757E|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000485684.1_3'UTR|NRP2_ENST00000357118.4_Missense_Mutation_p.G757E|NRP2_ENST00000360409.3_Missense_Mutation_p.G757E|AC007362.3_ENST00000598710.1_RNA			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G757E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGGAAGCACGGGCGGATCATC	0.612											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002vaw.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2269-2271)GGG>GAG		neuropilin 2 isoform 1 precursor							52.0	55.0	54.0					2																	206628623		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206628623G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2270G>A	2.37:g.206628623G>A	ENSP00000350432:p.Gly757Glu		OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2161	NRP2_uc002vau.2_Missense_Mutation_p.G757E|NRP2_uc002vav.2_Missense_Mutation_p.G757E|NRP2_uc002vax.2_Missense_Mutation_p.G757E|NRP2_uc002vay.2_Missense_Mutation_p.G757E	p.G757E	NM_201266	NP_957718	O60462	NRP2_HUMAN			13	3061	+			757			Extracellular (Potential).|MAM.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.2270G>A	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075698	0.94000	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T	0.02085	4.46;4.46;4.46;4.46;4.46;4.46;4.46	5.87	5.87	0.94306	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.088598	0.85682	D	0.000000	T	0.15609	0.0376	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.00020	-1.2350	10	0.87932	D	0	-28.426	20.2033	0.98269	0.0:0.0:1.0:0.0	.	757;757;757;757;757	O60462-2;O60462-3;O60462;O60462-4;O60462-5	.;.;NRP2_HUMAN;.;.	E	757	ENSP00000353582:G757E;ENSP00000439658:G757E;ENSP00000439261:G757E;ENSP00000349632:G757E;ENSP00000350432:G757E;ENSP00000407626:G757E;ENSP00000272849:G757E	ENSP00000272849:G757E	G	+	2	0	NRP2	206336868	1.000000	0.71417	0.943000	0.38184	0.974000	0.67602	7.813000	0.86123	2.779000	0.95612	0.655000	0.94253	GGG		PASS	0.612	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			55	44	55	44	---	---	---	---
PLEKHM3	389072	broad.mit.edu	37	2	208866361	208866361	+	Start_Codon_SNP	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:208866361C>T	ENST00000427836.2	-	2	492	c.3G>A	c.(1-3)atG>atA	p.M1I	PLEKHM3_ENST00000389247.4_Start_Codon_SNP_p.M1I|PLEKHM3_ENST00000457206.1_Start_Codon_SNP_p.M1I	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	1					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.M1I(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCAAAGCTTCCATGTCACAGG	0.478																																						uc002vcl.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1-3)ATG>ATA		pleckstrin homology domain containing, family M,							110.0	103.0	105.0					2																	208866361		1863	4098	5961	SO:0001582	initiator_codon_variant	389072				intracellular signal transduction		metal ion binding	g.chr2:208866361C>T	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.3G>A	2.37:g.208866361C>T	ENSP00000417003:p.Met1Ile					PLEKHM3_uc002vcm.2_Missense_Mutation_p.M1I	p.M1I	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN			2	493	-			1					B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.3G>A	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460159	0.84317	.	.	ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206	D;D;D	0.85702	-1.9;-1.93;-2.02	5.71	5.71	0.89125	.	0.060317	0.64402	D	0.000006	D	0.92545	0.7632	.	.	.	0.80722	D	1	D;D	0.54964	0.969;0.969	D;D	0.63381	0.914;0.914	D	0.92647	0.6129	9	0.87932	D	0	0.3642	20.2785	0.98491	0.0:1.0:0.0:0.0	.	1;1	C9J119;Q6ZWE6	.;PKHM3_HUMAN	I	1	ENSP00000417003:M1I;ENSP00000373899:M1I;ENSP00000400150:M1I	ENSP00000373899:M1I	M	-	3	0	PLEKHM3	208574606	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.634000	0.67833	2.869000	0.98440	0.558000	0.71614	ATG		PASS	0.478	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475	Missense_Mutation	86	72	86	72	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211447374	211447374	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:211447374C>A	ENST00000233072.5	+	6	758	c.562C>A	c.(562-564)Cag>Aag	p.Q188K	CPS1_ENST00000430249.2_Missense_Mutation_p.Q194K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	188	Anthranilate phosphoribosyltransferase homolog.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.Q194K(1)|p.Q188K(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ATTTGAAGGTCAGCCTGTGGA	0.348																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(562-564)CAG>AAG		carbamoyl-phosphate synthetase 1 isoform b							146.0	146.0	146.0					2																	211447374		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211447374C>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.562C>A	2.37:g.211447374C>A	ENSP00000233072:p.Gln188Lys					CPS1_uc010fur.2_Missense_Mutation_p.Q194K	p.Q188K	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	6	694	+			188			Anthranilate phosphoribosyltransferase homolog.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.562C>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824201	0.32237	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.93811	-3.29;-3.29	5.67	5.67	0.87782	Carbamoyl-phosphate synthase, small subunit, N-terminal (2);	0.053817	0.85682	D	0.000000	D	0.87799	0.6268	L	0.35414	1.06	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.82076	-0.0636	10	0.07644	T	0.81	5.0499	14.5851	0.68317	0.146:0.854:0.0:0.0	.	198;188	Q59HF8;P31327	.;CPSM_HUMAN	K	194;196;188;188	ENSP00000402608:Q194K;ENSP00000233072:Q188K	ENSP00000233072:Q188K	Q	+	1	0	CPS1	211155619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.436000	0.59948	2.670000	0.90874	0.655000	0.94253	CAG		PASS	0.348	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			68	61	68	61	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211502530	211502530	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:211502530T>G	ENST00000233072.5	+	22	2988	c.2792T>G	c.(2791-2793)cTg>cGg	p.L931R	CPS1_ENST00000430249.2_Missense_Mutation_p.L937R|CPS1_ENST00000451903.2_Missense_Mutation_p.L480R|CPS1_ENST00000497121.1_3'UTR	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	931					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.L931R(1)|p.L937R(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ACAAGGGAGCTGAGGTTAAAG	0.473																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2791-2793)CTG>CGG		carbamoyl-phosphate synthetase 1 isoform b							80.0	86.0	84.0					2																	211502530		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211502530T>G	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2792T>G	2.37:g.211502530T>G	ENSP00000233072:p.Leu931Arg					CPS1_uc010fur.2_Missense_Mutation_p.L937R|CPS1_uc010fus.2_Missense_Mutation_p.L480R	p.L931R	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	22	2924	+			931					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2792T>G	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.292377	0.40594	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.96885	-4.16;-4.16;-4.16	5.47	5.47	0.80525	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (3);	0.000000	0.85682	D	0.000000	D	0.95027	0.8390	M	0.63428	1.95	0.58432	D	0.999999	B;B	0.31318	0.319;0.188	B;B	0.34346	0.18;0.105	D	0.93732	0.7042	10	0.26408	T	0.33	-0.1332	15.8438	0.78871	0.0:0.0:0.0:1.0	.	941;931	Q59HF8;P31327	.;CPSM_HUMAN	R	937;939;931;480	ENSP00000402608:L937R;ENSP00000233072:L931R;ENSP00000406136:L480R	ENSP00000233072:L931R	L	+	2	0	CPS1	211210775	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.091000	0.76923	2.187000	0.69744	0.528000	0.53228	CTG		PASS	0.473	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			58	57	58	57	---	---	---	---
USP37	57695	broad.mit.edu	37	2	219350415	219350415	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:219350415C>A	ENST00000258399.3	-	16	2054	c.1642G>T	c.(1642-1644)Gtc>Ttc	p.V548F	USP37_ENST00000418019.1_Missense_Mutation_p.V548F|USP37_ENST00000454775.1_Missense_Mutation_p.V548F|USP37_ENST00000475553.1_5'UTR|USP37_ENST00000415516.1_Missense_Mutation_p.V476F	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	548	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)	p.V548F(1)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTGTGCCTGACAAGAGCACAC	0.338																																						uc002vie.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|prostate(1)	5						c.(1642-1644)GTC>TTC		ubiquitin specific peptidase 37							103.0	103.0	103.0					2																	219350415		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219350415C>A	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1642G>T	2.37:g.219350415C>A	ENSP00000258399:p.Val548Phe					USP37_uc010fvs.1_Missense_Mutation_p.V548F|USP37_uc010zkf.1_Missense_Mutation_p.V548F|USP37_uc002vif.2_Missense_Mutation_p.V548F|USP37_uc002vig.2_Missense_Mutation_p.V476F	p.V548F	NM_020935	NP_065986	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	16	2095	-		Renal(207;0.0915)	548					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.1642G>T	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471201	0.84533	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.46	4.46	0.54185	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.62105	-0.6924	10	0.56958	D	0.05	-7.5882	17.6701	0.88214	0.0:1.0:0.0:0.0	.	476;548	Q86T82-2;Q86T82	.;UBP37_HUMAN	F	548;548;476;548	ENSP00000258399:V548F;ENSP00000393662:V548F;ENSP00000400902:V476F;ENSP00000396585:V548F	ENSP00000258399:V548F	V	-	1	0	USP37	219058659	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.258000	0.78371	2.471000	0.83476	0.655000	0.94253	GTC		PASS	0.338	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		68	46	68	46	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227915752	227915752	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:227915752G>T	ENST00000396625.3	-	33	3298	c.3091C>A	c.(3091-3093)Cct>Act	p.P1031T	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1031T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1031	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P1031T(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GAGCCTGGAGGGCCTGGGGGT	0.567																																						uc010zlt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(3091-3093)CCT>ACT		alpha 4 type IV collagen precursor							89.0	91.0	91.0					2																	227915752		1882	4123	6005	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227915752G>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3091C>A	2.37:g.227915752G>T	ENSP00000379866:p.Pro1031Thr						p.P1031T	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	33	3745	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1031			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.3091C>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	6.310	0.425290	0.11987	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.92965	-3.14;-3.14	5.32	2.4	0.29515	.	.	.	.	.	D	0.87493	0.6191	M	0.64260	1.97	0.09310	N	1	B	0.31459	0.324	B	0.31390	0.129	T	0.73902	-0.3836	9	0.13108	T	0.6	.	5.6931	0.17841	0.2293:0.1516:0.6192:0.0	.	1031	P53420	CO4A4_HUMAN	T	1031	ENSP00000379866:P1031T;ENSP00000328553:P1031T	ENSP00000328553:P1031T	P	-	1	0	COL4A4	227623996	0.020000	0.18652	0.709000	0.30452	0.062000	0.15995	2.006000	0.40874	1.245000	0.43885	0.655000	0.94253	CCT		PASS	0.567	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		114	89	114	89	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227973298	227973298	+	Splice_Site	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:227973298G>A	ENST00000396625.3	-	12	941	c.734C>T	c.(733-735)cCg>cTg	p.P245L	COL4A4_ENST00000329662.7_Splice_Site_p.P245L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	245	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P245L(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AATTCTTACCGGGTCTCCCAT	0.418																																						uc010zlt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(733-735)CCG>CTG		alpha 4 type IV collagen precursor							103.0	109.0	107.0					2																	227973298		1925	4125	6050	SO:0001630	splice_region_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227973298G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.735+1C>T	2.37:g.227973298G>A							p.P245L	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	12	1388	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	245			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.734C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277945	0.80692	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.97731	-4.51;-4.51	5.19	5.19	0.71726	.	.	.	.	.	D	0.97666	0.9235	L	0.41492	1.28	0.58432	D	0.99999	D	0.89917	1.0	D	0.85130	0.997	D	0.97350	0.9963	9	0.42905	T	0.14	.	14.5639	0.68162	0.0:0.0:1.0:0.0	.	245	P53420	CO4A4_HUMAN	L	245	ENSP00000379866:P245L;ENSP00000328553:P245L	ENSP00000328553:P245L	P	-	2	0	COL4A4	227681542	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.355000	0.52262	2.587000	0.87381	0.585000	0.79938	CCG		PASS	0.418	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	Missense_Mutation	54	128	54	128	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228883190	228883190	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:228883190T>C	ENST00000392056.3	-	7	2426	c.2380A>G	c.(2380-2382)Aaa>Gaa	p.K794E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.K794E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	794						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.K794E(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGTCTTGTTTTGAATACATG	0.483																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(2380-2382)AAA>GAA		sphingosine kinase type 1-interacting protein							332.0	319.0	324.0					2																	228883190		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883190T>C		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2380A>G	2.37:g.228883190T>C	ENSP00000375909:p.Lys794Glu					SPHKAP_uc002vpp.2_Missense_Mutation_p.K794E|SPHKAP_uc010zlx.1_Missense_Mutation_p.K794E	p.K794E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2427	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	794					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2380A>G	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	3.789	-0.044005	0.07452	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.15139	2.45;2.45	5.97	3.6	0.41247	.	1.088530	0.06775	N	0.784272	T	0.17577	0.0422	M	0.61703	1.905	0.09310	N	1	B;P	0.41848	0.055;0.763	B;B	0.37144	0.044;0.242	T	0.25984	-1.0116	10	0.37606	T	0.19	.	4.1496	0.10232	0.1265:0.0695:0.132:0.6721	.	794;794	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	E	794	ENSP00000375909:K794E;ENSP00000339886:K794E	ENSP00000339886:K794E	K	-	1	0	SPHKAP	228591434	0.266000	0.24112	0.007000	0.13788	0.008000	0.06430	1.636000	0.37144	1.055000	0.40461	0.533000	0.62120	AAA		PASS	0.483	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		355	269	355	269	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238249727	238249727	+	Missense_Mutation	SNP	G	G	T	rs114806654		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:238249727G>T	ENST00000295550.4	-	38	8284	c.7832C>A	c.(7831-7833)gCg>gAg	p.A2611E	COL6A3_ENST00000346358.4_Missense_Mutation_p.A2411E|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2410E|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2405E|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2405E|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2004E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2611	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A2611E(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTCCCTGCCGCTCTCCTGTC	0.512																																						uc002vwl.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(7831-7833)GCG>GAG		alpha 3 type VI collagen isoform 1 precursor							149.0	150.0	150.0					2																	238249727		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238249727G>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7832C>A	2.37:g.238249727G>T	ENSP00000295550:p.Ala2611Glu					COL6A3_uc002vwo.2_Missense_Mutation_p.A2405E|COL6A3_uc010znj.1_Missense_Mutation_p.A2004E|COL6A3_uc002vwj.2_5'UTR	p.A2611E	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	38	8117	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2611			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.7832C>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478212	0.26511	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88741	-2.42;-2.39;-2.39;-2.39;-2.39;-2.38	5.05	5.05	0.67936	.	0.123875	0.36034	N	0.002826	D	0.90383	0.6990	N	0.19112	0.55	0.36290	D	0.856359	P;P;D	0.89917	0.91;0.946;1.0	B;P;D	0.79784	0.389;0.593;0.993	D	0.92839	0.6287	10	0.51188	T	0.08	.	18.7716	0.91894	0.0:0.0:1.0:0.0	.	2004;2405;2611	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	E	2611;2410;2405;2004;2405;2411	ENSP00000295550:A2611E;ENSP00000315609:A2410E;ENSP00000315873:A2405E;ENSP00000418285:A2004E;ENSP00000386844:A2405E;ENSP00000295546:A2411E	ENSP00000295550:A2611E	A	-	2	0	COL6A3	237914466	1.000000	0.71417	0.573000	0.28510	0.487000	0.33371	6.565000	0.73974	2.478000	0.83669	0.655000	0.94253	GCG		PASS	0.512	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		106	63	106	63	---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10392220	10392220	+	Silent	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:10392220C>A	ENST00000352432.4	-	14	2247	c.2178G>T	c.(2176-2178)acG>acT	p.T726T	ATP2B2_ENST00000397077.1_Silent_p.T681T|ATP2B2_ENST00000383800.4_Silent_p.T681T|ATP2B2_ENST00000360273.2_Silent_p.T726T|ATP2B2_ENST00000343816.4_Silent_p.T712T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	726					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.T726T(1)|p.T681T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCATGCGGACCGTGATGCCTG	0.652																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2176-2178)ACG>ACT		plasma membrane calcium ATPase 2 isoform 1							95.0	84.0	87.0					3																	10392220		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10392220C>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2178G>T	3.37:g.10392220C>A						ATP2B2_uc003bvv.2_Silent_p.T681T|ATP2B2_uc003bvw.2_Silent_p.T681T|ATP2B2_uc010hdo.2_Silent_p.T431T	p.T726T	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			15	2617	-			726			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.2178G>T	CCDS33701.1																																																																																				PASS	0.652	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		42	14	42	14	---	---	---	---
LRRC2	79442	broad.mit.edu	37	3	46569047	46569047	+	Silent	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:46569047G>C	ENST00000395905.3	-	7	1190	c.798C>G	c.(796-798)ctC>ctG	p.L266L	LRRC2_ENST00000296144.3_Silent_p.L266L	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	266								p.L266L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TTTTATACAAGAGAAAGCTCT	0.418																																						uc010hji.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(796-798)CTC>CTG		leucine rich repeat containing 2							88.0	84.0	85.0					3																	46569047		2203	4300	6503	SO:0001819	synonymous_variant	79442							g.chr3:46569047G>C	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.798C>G	3.37:g.46569047G>C						LRRC2_uc003cpu.3_Silent_p.L266L	p.L266L	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	7	1162	-		Ovarian(412;0.0563)	266			LRR 7.		B2RDQ7|Q96LT5	Silent	SNP	ENST00000395905.3	37	c.798C>G	CCDS2741.1																																																																																				PASS	0.418	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			37	13	37	13	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49691379	49691379	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:49691379C>T	ENST00000296452.4	+	5	4504	c.4390C>T	c.(4390-4392)Cct>Tct	p.P1464S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1464					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.P1464S(1)|p.P1464T(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGGTGGCACTCCTCAGCCTTC	0.612																																						uc003cxe.3																			2	Substitution - Missense(2)		lung(1)|breast(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(4390-4392)CCT>TCT		bassoon protein							135.0	129.0	131.0					3																	49691379		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691379C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4390C>T	3.37:g.49691379C>T	ENSP00000296452:p.Pro1464Ser						p.P1464S	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	4504	+			1464					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.4390C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	5.681	0.310158	0.10733	.	.	ENSG00000164061	ENST00000296452	T	0.18960	2.18	4.66	2.83	0.33086	.	0.275155	0.37577	N	0.002036	T	0.17577	0.0422	L	0.56769	1.78	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.22243	-1.0222	10	0.30854	T	0.27	.	5.0588	0.14546	0.0:0.6014:0.154:0.2446	.	1464	Q9UPA5	BSN_HUMAN	S	1464	ENSP00000296452:P1464S	ENSP00000296452:P1464S	P	+	1	0	BSN	49666383	0.001000	0.12720	0.001000	0.08648	0.773000	0.43773	0.037000	0.13840	0.379000	0.24794	0.462000	0.41574	CCT		PASS	0.612	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		88	19	88	19	---	---	---	---
C3orf30	152405	broad.mit.edu	37	3	118866052	118866052	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:118866052A>T	ENST00000295622.1	+	1	1056	c.1016A>T	c.(1015-1017)cAc>cTc	p.H339L	IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000354673.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	339								p.H339L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GACAATGCTCACTACACTGAA	0.468																																						uc003ecb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1015-1017)CAC>CTC		hypothetical protein LOC152405							101.0	84.0	90.0					3																	118866052		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118866052A>T	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.1016A>T	3.37:g.118866052A>T	ENSP00000295622:p.His339Leu					IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.H339L	p.H339L	NM_152539	NP_689752	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	1056	+			339					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.1016A>T	CCDS2984.1	.	.	.	.	.	.	.	.	.	.	A	4.528	0.097955	0.08681	.	.	ENSG00000163424	ENST00000295622;ENST00000470341	T	0.12465	2.68	4.28	-3.03	0.05429	.	3.263620	0.00970	N	0.003235	T	0.08802	0.0218	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26780	-1.0093	10	0.35671	T	0.21	2.0939	3.2863	0.06932	0.3271:0.0:0.1923:0.4807	.	339;339	E9PFE5;Q96M34	.;CC030_HUMAN	L	339	ENSP00000295622:H339L	ENSP00000295622:H339L	H	+	2	0	C3orf30	120348742	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.032000	0.13732	-0.511000	0.06514	-0.290000	0.09829	CAC		PASS	0.468	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		29	55	29	55	---	---	---	---
POPDC2	64091	broad.mit.edu	37	3	119361403	119361403	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:119361403T>C	ENST00000264231.3	-	4	1181	c.1015A>G	c.(1015-1017)Aga>Gga	p.R339G	POPDC2_ENST00000493094.1_3'UTR|POPDC2_ENST00000468801.1_3'UTR|POPDC2_ENST00000474523.1_5'UTR	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	339				R -> K (in Ref. 1; AAG23406). {ECO:0000305}.	regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)	p.R339G(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		AGAGGAATTCTAGAAGCTGTG	0.428																																						uc003ecx.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1015-1017)AGA>GGA		popeye protein 2							66.0	73.0	70.0					3																	119361403		2203	4300	6503	SO:0001583	missense	64091					integral to membrane		g.chr3:119361403T>C	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.1015A>G	3.37:g.119361403T>C	ENSP00000264231:p.Arg339Gly					POPDC2_uc010hqw.1_3'UTR|POPDC2_uc003ecy.1_3'UTR	p.R339G	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN		GBM - Glioblastoma multiforme(114;0.242)	4	1149	-			339	R -> K (in Ref. 1; AAG23406).				Q86UE7	Missense_Mutation	SNP	ENST00000264231.3	37	c.1015A>G	CCDS2992.1	.	.	.	.	.	.	.	.	.	.	T	8.959	0.970078	0.18659	.	.	ENSG00000121577	ENST00000264231	T	0.16897	2.31	5.16	2.77	0.32553	.	1.109820	0.06712	N	0.773268	T	0.13286	0.0322	L	0.36672	1.1	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17440	-1.0369	10	0.24483	T	0.36	.	4.8197	0.13385	0.0:0.2872:0.0:0.7128	.	339	Q9HBU9	POPD2_HUMAN	G	339	ENSP00000264231:R339G	ENSP00000264231:R339G	R	-	1	2	POPDC2	120844093	0.907000	0.30839	0.999000	0.59377	0.997000	0.91878	0.916000	0.28651	0.995000	0.38917	0.533000	0.62120	AGA		PASS	0.428	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135		49	65	49	65	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121417551	121417552	+	Nonsense_Mutation	DNP	CC	CC	AG			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:121417551_121417552CC>AG	ENST00000340645.5	-	13	1928_1929	c.1803_1804GG>CT	c.(1801-1806)atGGag>atCTag	p.601_602ME>I*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.606_607ME>I*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	601					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.M601I(1)|p.M601_E602>I*(1)|p.E602*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCCTCACCCTCCATCTGTTTCA	0.411																																						uc003eei.3																			3	Substitution - Nonsense(1)|Substitution - Missense(1)|Complex - compound substitution(1)		lung(3)	ovary(6)|breast(2)|skin(2)	10						c.(1804-1806)GAG>TAG|c.(1801-1803)ATG>ATC		golgi autoantigen, golgin subfamily b,																																				SO:0001587	stop_gained	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121417551C>A|g.chr3:121417552C>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1803_1804delinsAG	3.37:g.121417551_121417552delinsAG	ENSP00000341848:p.M601_E602delinsI*					GOLGB1_uc010hrc.2_Nonsense_Mutation_p.E607*|GOLGB1_uc003eej.3_Nonsense_Mutation_p.E568*|GOLGB1_uc011bjm.1_Nonsense_Mutation_p.E488*|GOLGB1_uc010hrd.1_Nonsense_Mutation_p.E566*|GOLGB1_uc010hrc.2_Missense_Mutation_p.M606I|GOLGB1_uc003eej.3_Missense_Mutation_p.M567I|GOLGB1_uc011bjm.1_Missense_Mutation_p.M487I|GOLGB1_uc010hrd.1_Missense_Mutation_p.M565I	p.E602*|p.M601I	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	1930|1929	-			602|601			Cytoplasmic (Potential).		B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000340645.5	37	c.1804G>T|c.1803G>C	CCDS3004.1																																																																																				PASS	0.411	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		90|92	172	90	172	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124397156	124397156	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:124397156T>C	ENST00000462213.1	+	2	388	c.164T>C	c.(163-165)gTt>gCt	p.V55A	KALRN_ENST00000291478.5_Missense_Mutation_p.V741A|KALRN_ENST00000428018.2_Missense_Mutation_p.V709A|KALRN_ENST00000360013.3_Missense_Mutation_p.V2438A			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2437	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V2438A(1)|p.V741A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AAAGTCTCTGTTAAAGTGAGT	0.498																																						uc003ehg.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(7312-7314)GTT>GCT		kalirin, RhoGEF kinase isoform 1							128.0	119.0	122.0					3																	124397156		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124397156T>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000462213.1:c.164T>C	3.37:g.124397156T>C	ENSP00000418790:p.Val55Ala					KALRN_uc003ehk.2_Missense_Mutation_p.V741A	p.V2438A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			50	7440	+			2437					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000462213.1	37	c.7313T>C		.	.	.	.	.	.	.	.	.	.	T	14.85	2.659732	0.47572	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018;ENST00000462213	T;T;T;T	0.61274	0.12;0.55;0.55;0.55	5.5	5.5	0.81552	.	0.358637	0.26776	N	0.022558	T	0.41373	0.1156	L	0.35854	1.095	0.37198	D	0.904251	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.35325	-0.9793	10	0.05721	T	0.95	.	10.1405	0.42732	0.0:0.0737:0.0:0.9263	.	741;2437	C9JQ37;O60229	.;KALRN_HUMAN	A	2438;741;709;55	ENSP00000353109:V2438A;ENSP00000291478:V741A;ENSP00000402419:V709A;ENSP00000418790:V55A	ENSP00000291478:V741A	V	+	2	0	KALRN	125879846	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.656000	0.46716	2.308000	0.77769	0.533000	0.62120	GTT		PASS	0.498	KALRN-016	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356377.1	NM_003947		53	64	53	64	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130311403	130311403	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:130311403G>A	ENST00000358511.6	+	13	4322	c.4291G>A	c.(4291-4293)Gga>Aga	p.G1431R	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1431R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1431	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G1431R(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGGAGCCCCTGGACCAGTGGG	0.408																																						uc010htl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(4291-4293)GGA>AGA		collagen type VI alpha 6 precursor							84.0	80.0	81.0					3																	130311403		1855	4098	5953	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130311403G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4291G>A	3.37:g.130311403G>A	ENSP00000351310:p.Gly1431Arg					COL6A6_uc003eni.3_5'UTR	p.G1431R	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			13	4322	+			1431			Triple-helical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.4291G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636161	0.67130	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.99637	-6.29;-6.29	5.83	5.83	0.93111	.	0.000000	0.42548	D	0.000693	D	0.99813	0.9918	H	0.98199	4.17	0.43632	D	0.996021	D	0.89917	1.0	D	0.97110	1.0	D	0.97022	0.9744	10	0.87932	D	0	.	17.0542	0.86529	0.0:0.0:1.0:0.0	.	1431	A6NMZ7	CO6A6_HUMAN	R	1431	ENSP00000351310:G1431R;ENSP00000399236:G1431R	ENSP00000351310:G1431R	G	+	1	0	COL6A6	131794093	1.000000	0.71417	0.392000	0.26245	0.489000	0.33432	5.534000	0.67167	2.763000	0.94921	0.563000	0.77884	GGA		PASS	0.408	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		16	24	16	24	---	---	---	---
PLSCR5	389158	broad.mit.edu	37	3	146307484	146307484	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:146307484C>T	ENST00000443512.1	-	6	1736	c.733G>A	c.(733-735)Gat>Aat	p.D245N	PLSCR5_ENST00000482567.1_Missense_Mutation_p.D233N|PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000492200.1_Missense_Mutation_p.D245N	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	245								p.D245N(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						ACTGTTACATCTAGATCTGCA	0.383																																						uc003ewb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)GAT>AAT		phospholipid scramblase family, member 5							152.0	144.0	146.0					3																	146307484		1896	4123	6019	SO:0001583	missense	389158							g.chr3:146307484C>T	AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.733G>A	3.37:g.146307484C>T	ENSP00000390111:p.Asp245Asn					PLSCR5_uc010hvb.2_Missense_Mutation_p.D233N|PLSCR5_uc010hvc.2_Missense_Mutation_p.D245N	p.D245N	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN			6	1737	-			245					B2RXK5	Missense_Mutation	SNP	ENST00000443512.1	37	c.733G>A	CCDS46931.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386707	0.82902	.	.	ENSG00000231213	ENST00000492200;ENST00000482567;ENST00000443512	T;T;T	0.42131	0.98;0.98;0.98	5.26	5.26	0.73747	Tubby, C-terminal (1);	.	.	.	.	T	0.75459	0.3852	H	0.94925	3.6	0.58432	D	0.999993	D;D	0.89917	1.0;0.965	D;P	0.91635	0.999;0.819	T	0.83123	-0.0117	9	0.72032	D	0.01	-19.5381	18.8599	0.92267	0.0:1.0:0.0:0.0	.	233;245	B2RXK5;A0PG75	.;PLS5_HUMAN	N	245;233;245	ENSP00000417184:D245N;ENSP00000418626:D233N;ENSP00000390111:D245N	ENSP00000390111:D245N	D	-	1	0	PLSCR5	147790174	1.000000	0.71417	0.747000	0.31113	0.552000	0.35366	7.445000	0.80570	2.460000	0.83146	0.557000	0.71058	GAT		PASS	0.383	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355365.1	XM_371670		137	237	137	237	---	---	---	---
HPS3	84343	broad.mit.edu	37	3	148885004	148885004	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:148885004C>G	ENST00000296051.2	+	15	2913	c.2773C>G	c.(2773-2775)Cat>Gat	p.H925D	HPS3_ENST00000460120.1_Missense_Mutation_p.H760D	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	925					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.H925D(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATATGCTAATCATGAACTGAA	0.408									Hermansky-Pudlak syndrome																													uc003ewu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(1)	6						c.(2773-2775)CAT>GAT		Hermansky-Pudlak syndrome 3 protein							86.0	87.0	86.0					3																	148885004		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148885004C>G	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2773C>G	3.37:g.148885004C>G	ENSP00000296051:p.His925Asp					CP_uc011bnr.1_Intron|HPS3_uc011bnq.1_Missense_Mutation_p.H760D|HPS3_uc003ewv.1_RNA	p.H925D	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		15	2913	+			925					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.2773C>G	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247867	0.59103	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.63417	-0.03;-0.04	5.92	5.03	0.67393	.	0.179584	0.64402	D	0.000010	T	0.69124	0.3076	L	0.50333	1.59	0.80722	D	1	D;D	0.55800	0.973;0.973	P;P	0.53861	0.736;0.736	T	0.72673	-0.4222	10	0.66056	D	0.02	-5.0624	16.2583	0.82528	0.1338:0.8662:0.0:0.0	.	760;925	G5E9V4;Q969F9	.;HPS3_HUMAN	D	925;760	ENSP00000296051:H925D;ENSP00000418230:H760D	ENSP00000296051:H925D	H	+	1	0	HPS3	150367694	1.000000	0.71417	0.206000	0.23566	0.955000	0.61496	5.235000	0.65348	1.467000	0.48044	0.650000	0.86243	CAT		PASS	0.408	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		34	174	34	174	---	---	---	---
PTX3	5806	broad.mit.edu	37	3	157160481	157160481	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:157160481G>C	ENST00000295927.3	+	3	1004	c.859G>C	c.(859-861)Ggt>Cgt	p.G287R	VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000362010.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	287	Pentaxin.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)	p.G287R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GTGGGTAAATGGTGAACTGGC	0.542																																						uc003fbl.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(859-861)GGT>CGT		pentraxin 3 precursor							95.0	93.0	94.0					3																	157160481		2203	4300	6503	SO:0001583	missense	5806				inflammatory response	extracellular region		g.chr3:157160481G>C	X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"""pentaxin-related gene, rapidly induced by IL-1 beta"", ""tumor necrosis factor, alpha-induced protein 5"", ""pentraxin-related gene, rapidly induced by IL-1 beta"""	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.859G>C	3.37:g.157160481G>C	ENSP00000295927:p.Gly287Arg					VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron	p.G287R	NM_002852	NP_002843	P26022	PTX3_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		3	1002	+			287			Pentaxin.		B2R6T6|Q38M82	Missense_Mutation	SNP	ENST00000295927.3	37	c.859G>C	CCDS3180.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833984	0.50951	.	.	ENSG00000163661	ENST00000295927	T	0.79845	-1.31	5.86	3.14	0.36123	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.142365	0.64402	D	0.000004	D	0.84871	0.5568	M	0.68728	2.09	0.58432	D	0.999999	P	0.50272	0.933	P	0.59487	0.858	T	0.82530	-0.0411	10	0.49607	T	0.09	-9.0147	9.3614	0.38197	0.2647:0.0:0.7353:0.0	.	287	P26022	PTX3_HUMAN	R	287	ENSP00000295927:G287R	ENSP00000295927:G287R	G	+	1	0	PTX3	158643175	1.000000	0.71417	0.006000	0.13384	0.961000	0.63080	5.374000	0.66167	0.404000	0.25506	-0.150000	0.13652	GGT		PASS	0.542	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352028.1	NM_002852		47	179	47	179	---	---	---	---
IFT80	57560	broad.mit.edu	37	3	160037573	160037573	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:160037573G>C	ENST00000326448.7	-	9	1364	c.932C>G	c.(931-933)aCa>aGa	p.T311R	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.T482R|IFT80_ENST00000483465.1_Missense_Mutation_p.T174R|IFT80_ENST00000496589.1_Missense_Mutation_p.T174R	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	311					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.T311R(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTCGTTAATGTTACTTGAAA	0.373																																						uc011boy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(931-933)ACA>AGA		WD repeat domain 56							127.0	125.0	126.0					3																	160037573		2203	4300	6503	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:160037573G>C	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.932C>G	3.37:g.160037573G>C	ENSP00000312778:p.Thr311Arg					IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.T174R|IFT80_uc003fdd.1_5'UTR|IFT80_uc003fde.1_Missense_Mutation_p.T174R	p.T311R	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		9	1365	-			311					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.932C>G	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303466	0.81136	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	T;T;T	0.78481	-0.06;-1.18;-1.18	4.7	4.7	0.59300	WD40 repeat-like-containing domain (1);	0.000000	0.64402	U	0.000014	D	0.87724	0.6249	M	0.85630	2.765	0.80722	D	1	D	0.63880	0.993	P	0.59288	0.855	D	0.89462	0.3737	10	0.59425	D	0.04	.	18.1807	0.89777	0.0:0.0:1.0:0.0	.	311	Q9P2H3	IFT80_HUMAN	R	311;174;174	ENSP00000312778:T311R;ENSP00000418196:T174R;ENSP00000420646:T174R	ENSP00000312778:T311R	T	-	2	0	IFT80	161520267	1.000000	0.71417	0.287000	0.24848	0.668000	0.39293	7.229000	0.78088	2.576000	0.86940	0.555000	0.69702	ACA		PASS	0.373	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		59	325	59	325	---	---	---	---
KPNA4	3840	broad.mit.edu	37	3	160253340	160253340	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:160253340T>C	ENST00000334256.4	-	5	553	c.248A>G	c.(247-249)gAt>gGt	p.D83G		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	83					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)	p.D83G(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TCCTTGGTTATCACTTGAAGC	0.308																																						uc003fdn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)GAT>GGT		karyopherin alpha 4							52.0	52.0	52.0					3																	160253340		2202	4292	6494	SO:0001583	missense	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160253340T>C	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.248A>G	3.37:g.160253340T>C	ENSP00000334373:p.Asp83Gly						p.D83G	NM_002268	NP_002259	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		5	554	-			83			ARM 1; truncated.		A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	c.248A>G	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.362339	0.41902	.	.	ENSG00000186432	ENST00000334256	T	0.28454	1.61	5.23	5.23	0.72850	Importin-alpha, importin-beta-binding domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.049874	0.85682	D	0.000000	T	0.24547	0.0595	L	0.31664	0.95	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.03060	-1.1077	10	0.31617	T	0.26	-5.0298	15.2648	0.73651	0.0:0.0:0.0:1.0	.	83	O00629	IMA4_HUMAN	G	83	ENSP00000334373:D83G	ENSP00000334373:D83G	D	-	2	0	KPNA4	161736034	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.649000	0.83500	2.193000	0.70182	0.477000	0.44152	GAT		PASS	0.308	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		89	27	89	27	---	---	---	---
SI	6476	broad.mit.edu	37	3	164735787	164735787	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:164735787C>A	ENST00000264382.3	-	29	3553	c.3491G>T	c.(3490-3492)gGt>gTt	p.G1164V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1164	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.G1164V(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TAAGAAAACACCATGAGCATT	0.318										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3490-3492)GGT>GTT		sucrase-isomaltase	Acarbose(DB00284)						107.0	107.0	107.0					3																	164735787		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735787C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3491G>T	3.37:g.164735787C>A	ENSP00000264382:p.Gly1164Val	HNSCC(35;0.089)					p.G1164V	NM_001041	NP_001032	P14410	SUIS_HUMAN			29	3553	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1164			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3491G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204642	0.58234	.	.	ENSG00000090402	ENST00000264382	D	0.94417	-3.42	5.17	5.17	0.71159	Glycoside hydrolase-type carbohydrate-binding (1);	0.116529	0.64402	D	0.000020	D	0.97732	0.9256	H	0.94183	3.505	0.80722	D	1	D	0.65815	0.995	P	0.58391	0.838	D	0.98397	1.0566	10	0.62326	D	0.03	.	18.864	0.92283	0.0:1.0:0.0:0.0	.	1164	P14410	SUIS_HUMAN	V	1164	ENSP00000264382:G1164V	ENSP00000264382:G1164V	G	-	2	0	SI	166218481	1.000000	0.71417	0.926000	0.36857	0.120000	0.20174	5.083000	0.64456	2.689000	0.91719	0.491000	0.48974	GGT		PASS	0.318	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		55	239	55	239	---	---	---	---
EIF5A2	56648	broad.mit.edu	37	3	170624845	170624845	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:170624845T>G	ENST00000295822.2	-	3	388	c.203A>C	c.(202-204)aAa>aCa	p.K68T	EIF5A2_ENST00000487522.1_Missense_Mutation_p.K68T|EIF5A2_ENST00000474096.1_Missense_Mutation_p.K68T|EIF5A2_ENST00000460117.1_Intron	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	eukaryotic translation initiation factor 5A2	68					cellular protein metabolic process (GO:0044267)|mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|polyamine homeostasis (GO:0010509)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|translational frameshifting (GO:0006452)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)	p.K68T(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			ATCTTCATATTTTTTGCCCGT	0.343																																						uc003fhd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(202-204)AAA>ACA		eIF-5A2 protein							85.0	85.0	85.0					3																	170624845		2203	4299	6502	SO:0001583	missense	56648				mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity	g.chr3:170624845T>G	AF293386	CCDS3214.1	3q26.2	2008-05-15			ENSG00000163577	ENSG00000163577			3301	protein-coding gene	gene with protein product		605782					Standard	NM_020390		Approved		uc003fhd.3	Q9GZV4	OTTHUMG00000158958	ENST00000295822.2:c.203A>C	3.37:g.170624845T>G	ENSP00000295822:p.Lys68Thr						p.K68T	NM_020390	NP_065123	Q9GZV4	IF5A2_HUMAN	LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)		3	333	-	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		68					B2R4V5	Missense_Mutation	SNP	ENST00000295822.2	37	c.203A>C	CCDS3214.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.120099	0.77323	.	.	ENSG00000163577	ENST00000295822;ENST00000487522;ENST00000474096;ENST00000474417	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.58	5.58	0.84498	Translation protein SH3-like (1);Translation protein SH3-like, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.77644	0.4161	H	0.95679	3.705	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.85027	0.0915	10	0.87932	D	0	-1.8526	15.7499	0.77976	0.0:0.0:0.0:1.0	.	68	Q9GZV4	IF5A2_HUMAN	T	68;68;68;49	ENSP00000295822:K68T;ENSP00000418305:K68T;ENSP00000418370:K68T;ENSP00000417133:K49T	ENSP00000295822:K68T	K	-	2	0	EIF5A2	172107539	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.560000	0.82277	2.134000	0.65973	0.459000	0.35465	AAA		PASS	0.343	EIF5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352681.1			54	255	54	255	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170843853	170843853	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:170843853C>T	ENST00000436636.2	-	17	2205	c.1861G>A	c.(1861-1863)Ggg>Agg	p.G621R	TNIK_ENST00000284483.8_Missense_Mutation_p.G621R|TNIK_ENST00000538048.1_Missense_Mutation_p.G566R|TNIK_ENST00000341852.6_Missense_Mutation_p.G537R|TNIK_ENST00000488470.1_Missense_Mutation_p.G566R|TNIK_ENST00000460047.1_Missense_Mutation_p.G566R|TNIK_ENST00000369326.5_Missense_Mutation_p.G592R|TNIK_ENST00000357327.5_Missense_Mutation_p.G592R|TNIK_ENST00000475336.1_Missense_Mutation_p.G537R|TNIK_ENST00000470834.1_Missense_Mutation_p.G592R	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	621	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.G621R(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCCTGAAACCCAGAGAGGCCC	0.572																																						uc003fhh.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(1861-1863)GGG>AGG		TRAF2 and NCK interacting kinase isoform 1							73.0	77.0	75.0					3																	170843853		1913	4122	6035	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170843853C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1861G>A	3.37:g.170843853C>T	ENSP00000399511:p.Gly621Arg					TNIK_uc003fhi.2_Missense_Mutation_p.G566R|TNIK_uc003fhj.2_Missense_Mutation_p.G592R|TNIK_uc003fhk.2_Missense_Mutation_p.G621R|TNIK_uc003fhl.2_Missense_Mutation_p.G537R|TNIK_uc003fhm.2_Missense_Mutation_p.G566R|TNIK_uc003fhn.2_Missense_Mutation_p.G592R|TNIK_uc003fho.2_Missense_Mutation_p.G537R	p.G621R	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		17	2206	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		621			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.1861G>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113559	0.56398	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.72167	0.94;0.94;-0.62;-0.63;0.94;-0.63;0.94;-0.63;-0.63;0.94	5.77	4.9	0.64082	.	0.534952	0.20680	N	0.087670	T	0.62368	0.2422	N	0.14661	0.345	0.44852	D	0.997869	P;B;P;P;B;B;P;B	0.35908	0.527;0.01;0.527;0.527;0.151;0.042;0.527;0.093	B;B;B;B;B;B;B;B	0.43783	0.431;0.07;0.431;0.431;0.108;0.039;0.431;0.05	T	0.64385	-0.6420	10	0.42905	T	0.14	.	14.8851	0.70560	0.0:0.9312:0.0:0.0688	.	537;592;566;537;621;592;566;621	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	R	621;592;566;537;621;537;592;566;566;592	ENSP00000399511:G621R;ENSP00000358332:G592R;ENSP00000443278:G566R;ENSP00000345352:G537R;ENSP00000284483:G621R;ENSP00000418156:G537R;ENSP00000349880:G592R;ENSP00000418916:G566R;ENSP00000418378:G566R;ENSP00000419990:G592R	ENSP00000284483:G621R	G	-	1	0	TNIK	172326547	1.000000	0.71417	0.988000	0.46212	0.952000	0.60782	3.478000	0.53158	1.571000	0.49722	0.655000	0.94253	GGG		PASS	0.572	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		52	363	52	363	---	---	---	---
CHRD	8646	broad.mit.edu	37	3	184105818	184105818	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:184105818C>T	ENST00000204604.1	+	20	2797	c.2551C>T	c.(2551-2553)Cca>Tca	p.P851S	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.P393S|CHRD_ENST00000348986.3_Missense_Mutation_p.P811S|CHRD_ENST00000450923.1_Missense_Mutation_p.P851S	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	851					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.P851S(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAAACAGTGTCCAGGTGAGAG	0.602																																						uc003fov.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2551-2553)CCA>TCA		chordin precursor							38.0	33.0	34.0					3																	184105818		2203	4300	6503	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184105818C>T	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2551C>T	3.37:g.184105818C>T	ENSP00000204604:p.Pro851Ser					CHRD_uc003fow.2_Missense_Mutation_p.P481S|CHRD_uc003fox.2_Missense_Mutation_p.P851S|CHRD_uc003foy.2_Missense_Mutation_p.P481S|CHRD_uc010hyc.2_Missense_Mutation_p.P441S|CHRD_uc011brr.1_Missense_Mutation_p.P393S	p.P851S	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		20	2797	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		851					O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.2551C>T	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555338	0.86231	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.76779	0.4035	L	0.61218	1.895	0.48341	D	0.999634	D;D;D;D	0.89917	0.992;1.0;1.0;1.0	D;D;D;D	0.97110	0.938;1.0;0.996;1.0	T	0.79298	-0.1861	10	0.62326	D	0.03	-6.5288	16.2662	0.82581	0.0:1.0:0.0:0.0	.	393;811;851;851	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	S	851;851;811;393	ENSP00000204604:P851S;ENSP00000408972:P851S;ENSP00000334036:P811S;ENSP00000442948:P393S	ENSP00000204604:P851S	P	+	1	0	CHRD	185588512	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.341000	0.65964	2.178000	0.69098	0.557000	0.71058	CCA		PASS	0.602	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		14	75	14	75	---	---	---	---
KNG1	3827	broad.mit.edu	37	3	186450437	186450437	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:186450437G>T	ENST00000265023.4	+	7	1116	c.904G>T	c.(904-906)Gac>Tac	p.D302Y	KNG1_ENST00000287611.2_Missense_Mutation_p.D302Y|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.D266Y	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	302	Cystatin kininogen-type 3. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.D302Y(2)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TTTCAAGATTGACAATGTGAA	0.398																																						uc011bsa.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(904-906)GAC>TAC		kininogen 1 isoform 1	Ouabain(DB01092)						99.0	98.0	99.0					3																	186450437		2203	4300	6503	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186450437G>T		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.904G>T	3.37:g.186450437G>T	ENSP00000265023:p.Asp302Tyr					KNG1_uc003fqr.2_Missense_Mutation_p.D302Y	p.D302Y	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	7	1116	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		302			Cystatin 3.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.904G>T	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497946	0.64186	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.26223	1.75;1.75;1.75	5.14	5.14	0.70334	Proteinase inhibitor I25, cystatin (2);	0.397539	0.23985	N	0.042621	T	0.51398	0.1672	M	0.77820	2.39	0.40405	D	0.979695	D;D	0.76494	0.999;0.997	D;D	0.71184	0.972;0.916	T	0.53982	-0.8361	10	0.62326	D	0.03	-8.6608	14.8298	0.70139	0.0:0.0:1.0:0.0	.	302;302	P01042;P01042-2	KNG1_HUMAN;.	Y	302;302;266;290	ENSP00000287611:D302Y;ENSP00000265023:D302Y;ENSP00000396025:D266Y	ENSP00000265023:D302Y	D	+	1	0	KNG1	187933131	0.227000	0.23707	0.987000	0.45799	0.782000	0.44232	1.184000	0.32053	2.781000	0.95711	0.650000	0.86243	GAC		PASS	0.398	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		108	597	108	597	---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186937970	186937970	+	Silent	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:186937970C>T	ENST00000337774.5	-	16	2378	c.1989G>A	c.(1987-1989)gtG>gtA	p.V663V		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	663	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.V663V(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ACACAGTGCCCACCAGGTACC	0.562											OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003frh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|liver(1)	4						c.(1987-1989)GTG>GTA		mannan-binding lectin serine protease 1 isoform							109.0	99.0	102.0					3																	186937970		2203	4300	6503	SO:0001819	synonymous_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186937970C>T	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1989G>A	3.37:g.186937970C>T			OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2011		p.V663V	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	16	2321	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		663			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	c.1989G>A	CCDS33907.1																																																																																				PASS	0.562	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		58	169	58	169	---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47667114	47667114	+	Silent	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr4:47667114G>A	ENST00000273857.4	-	11	1523	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	CORIN_ENST00000504584.1_Silent_p.F471F|CORIN_ENST00000502252.1_Silent_p.F441F|CORIN_ENST00000505909.1_Silent_p.F471F|CORIN_ENST00000508498.1_Silent_p.F369F	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	508	FZ 2. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.F508F(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TGCAAGAAAAGAACATGAGGT	0.418																																						uc003gxm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1522-1524)TTC>TTT		corin							102.0	104.0	103.0					4																	47667114		2203	4300	6503	SO:0001819	synonymous_variant	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47667114G>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1524C>T	4.37:g.47667114G>A						CORIN_uc011bzf.1_Silent_p.F369F|CORIN_uc011bzg.1_Silent_p.F441F|CORIN_uc011bzh.1_Silent_p.F471F|CORIN_uc011bzi.1_Silent_p.F471F	p.F508F	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			11	1617	-			508			Extracellular (Potential).|FZ 2.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	c.1524C>T	CCDS3477.1																																																																																				PASS	0.418	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			53	87	53	87	---	---	---	---
AASDH	132949	broad.mit.edu	37	4	57248730	57248730	+	Silent	SNP	G	G	T	rs202223246		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr4:57248730G>T	ENST00000205214.6	-	3	444	c.264C>A	c.(262-264)atC>atA	p.I88I	AASDH_ENST00000513376.1_5'UTR|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000510762.1_Intron|AASDH_ENST00000502617.1_Silent_p.I88I|AASDH_ENST00000451613.1_Silent_p.I88I|AASDH_ENST00000602986.1_Intron	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	88					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.I88I(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AATCTGGCTCGATAGGTACAT	0.323																																						uc003hbn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(262-264)ATC>ATA		aminoadipate-semialdehyde dehydrogenase							65.0	67.0	66.0					4																	57248730		2203	4300	6503	SO:0001819	synonymous_variant	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57248730G>T	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.264C>A	4.37:g.57248730G>T						AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Intron|AASDH_uc003hbo.2_5'UTR|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Silent_p.I88I|AASDH_uc003hbp.2_Silent_p.I88I|AASDH_uc003hbq.1_Silent_p.I88I	p.I88I	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			3	417	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	88					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Silent	SNP	ENST00000205214.6	37	c.264C>A	CCDS3504.1																																																																																				PASS	0.323	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		3	48	3	48	---	---	---	---
UGT2B10	7365	broad.mit.edu	37	4	69696583	69696584	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr4:69696583_69696584GG>TT	ENST00000265403.7	+	6	1600_1601	c.1573_1574GG>TT	c.(1573-1575)GGa>TTa	p.G525L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.G441L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	525					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.G525L(2)|p.G525V(2)|p.G525*(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AGGAAAGAAGGGAAAAAGGGAT	0.376																																					Melanoma(133;755 1763 25578 26334 46021)	uc003hee.2																			6	Substitution - Missense(4)|Substitution - Nonsense(2)		lung(6)	skin(3)|ovary(2)	5						c.(1573-1575)GGA>TGA|c.(1573-1575)GGA>GTA		UDP glucuronosyltransferase 2B10 isoform 1																																				SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69696583G>T|g.chr4:69696584G>T	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		Exception_encountered	4.37:g.69696583_69696584delinsTT	ENSP00000265403:p.Gly525Leu					UGT2B10_uc011cam.1_Nonsense_Mutation_p.G441*|UGT2B10_uc011cam.1_Missense_Mutation_p.G441V	p.G525*|p.G525V	NM_001075	NP_001066	P36537	UDB10_HUMAN			6	1598|1599	+			525					A8K9M3|B4DPP1|Q14CR8	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000265403.7	37	c.1573G>T|c.1574G>T																																																																																					PASS	0.376	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		35|38	295|290	35	290	---	---	---	---
RUFY3	22902	broad.mit.edu	37	4	71628293	71628293	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr4:71628293G>T	ENST00000226328.4	+	2	799	c.236G>T	c.(235-237)aGt>aTt	p.S79I	RUFY3_ENST00000417478.2_Missense_Mutation_p.S139I|RUFY3_ENST00000502653.1_Missense_Mutation_p.S26I|RUFY3_ENST00000536664.1_Missense_Mutation_p.S63I|RUFY3_ENST00000381006.3_Missense_Mutation_p.S79I	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	79					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)		p.S79I(2)		endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GCCAAGCTGAGTATCAAGGGC	0.468																																						uc003hfq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(235-237)AGT>ATT		RUN and FYVE domain containing 3 isoform 2							267.0	248.0	255.0					4																	71628293		2203	4300	6503	SO:0001583	missense	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71628293G>T	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.236G>T	4.37:g.71628293G>T	ENSP00000226328:p.Ser79Ile					RUFY3_uc003hfp.3_Missense_Mutation_p.S139I|RUFY3_uc011cax.1_Missense_Mutation_p.S97I|RUFY3_uc003hfr.2_Missense_Mutation_p.S79I|RUFY3_uc011cay.1_Missense_Mutation_p.S15I	p.S79I	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		2	831	+		all_hematologic(202;0.248)	79					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	c.236G>T	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	G	31	5.058450	0.93846	.	.	ENSG00000018189	ENST00000503876;ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653	T;T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69;2.69	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	L	0.41710	1.295	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.987;0.999;0.996	T	0.00945	-1.1505	10	0.14252	T	0.57	-18.9203	20.8598	0.99761	0.0:0.0:1.0:0.0	.	63;79;79;139	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	I	15;139;79;79;63;15;26	ENSP00000426734:S15I;ENSP00000399771:S139I;ENSP00000370394:S79I;ENSP00000226328:S79I;ENSP00000443652:S63I;ENSP00000425574:S15I;ENSP00000425400:S26I	ENSP00000226328:S79I	S	+	2	0	RUFY3	71847157	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.937000	0.99478	0.650000	0.86243	AGT		PASS	0.468	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		170	793	170	793	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73280574	73280574	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr4:73280574C>G	ENST00000286657.4	-	4	655	c.619G>C	c.(619-621)Gaa>Caa	p.E207Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	207					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E207Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAGCCTGTTCTACAGCTGAT	0.363																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(619-621)GAA>CAA		ADAM metallopeptidase with thrombospondin type 1							161.0	155.0	157.0					4																	73280574		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73280574C>G	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.619G>C	4.37:g.73280574C>G	ENSP00000286657:p.Glu207Gln						p.E207Q	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	656	-			207					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.619G>C	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	0.163	-1.079194	0.01903	.	.	ENSG00000156140	ENST00000286657	T	0.60797	0.16	5.16	4.18	0.49190	.	0.244548	0.26183	N	0.025852	T	0.34221	0.0890	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.17319	-1.0373	10	0.07482	T	0.82	.	7.6395	0.28286	0.0:0.7782:0.0:0.2218	.	207	O15072	ATS3_HUMAN	Q	207	ENSP00000286657:E207Q	ENSP00000286657:E207Q	E	-	1	0	ADAMTS3	73499438	0.003000	0.15002	0.936000	0.37596	0.609000	0.37215	1.172000	0.31908	2.392000	0.81423	0.655000	0.94253	GAA		PASS	0.363	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			70	349	70	349	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79301038	79301038	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr4:79301038C>A	ENST00000325942.6	+	27	3891	c.3451C>A	c.(3451-3453)Cta>Ata	p.L1151I	FRAS1_ENST00000264895.6_Missense_Mutation_p.L1151I	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1151					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.L1151I(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAATGGTCAGCTAGTGCTCTC	0.473																																						uc003hlb.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(5)	5						c.(3451-3453)CTA>ATA		Fraser syndrome 1							93.0	92.0	93.0					4																	79301038		1912	4109	6021	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79301038C>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3451C>A	4.37:g.79301038C>A	ENSP00000326330:p.Leu1151Ile					FRAS1_uc003hkw.2_Missense_Mutation_p.L1151I	p.L1151I	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			27	3891	+			1150			CSPG 1.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.3451C>A	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686351	0.47991	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	D;D	0.88975	-2.45;-2.45	5.53	3.48	0.39840	.	0.000000	0.64402	D	0.000004	D	0.92100	0.7496	M	0.65975	2.015	0.49915	D	0.99983	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.89839	0.4001	10	0.26408	T	0.33	.	10.7193	0.46032	0.0:0.7754:0.0:0.2246	.	1151;1151	E9PHH6;A2RRR8	.;.	I	1151	ENSP00000326330:L1151I;ENSP00000264895:L1151I	ENSP00000264895:L1151I	L	+	1	2	FRAS1	79520062	0.998000	0.40836	0.337000	0.25536	0.697000	0.40408	1.589000	0.36644	1.343000	0.45638	0.591000	0.81541	CTA		PASS	0.473	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			35	183	35	183	---	---	---	---
CCSER1	401145	broad.mit.edu	37	4	91230018	91230018	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr4:91230018G>T	ENST00000509176.1	+	2	871	c.583G>T	c.(583-585)Gtt>Ttt	p.V195F	CCSER1_ENST00000333691.8_Missense_Mutation_p.V195F|CCSER1_ENST00000432775.2_Missense_Mutation_p.V195F	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	195								p.V195F(2)									TTCTAAGCCAGTTCTACAGAG	0.398																																						uc003hsv.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(583-585)GTT>TTT		KIAA1680 protein isoform 1							63.0	60.0	61.0					4																	91230018		1835	4086	5921	SO:0001583	missense	401145							g.chr4:91230018G>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.583G>T	4.37:g.91230018G>T	ENSP00000425040:p.Val195Phe					FAM190A_uc003hsu.3_Missense_Mutation_p.V195F|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.V195F	p.V195F	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			2	923	+			195					Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.583G>T	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055330	0.36277	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.51574	1.21;0.7;1.21	4.94	3.23	0.37069	.	0.216510	0.39834	N	0.001251	T	0.39733	0.1089	L	0.40543	1.245	0.28827	N	0.897334	P;P;P	0.46512	0.741;0.879;0.741	B;B;B	0.42422	0.387;0.387;0.387	T	0.29397	-1.0013	10	0.41790	T	0.15	-7.3933	11.9956	0.53201	0.1427:0.0:0.8573:0.0	.	195;195;195	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	F	195	ENSP00000425040:V195F;ENSP00000389283:V195F;ENSP00000329482:V195F	ENSP00000329482:V195F	V	+	1	0	FAM190A	91449041	1.000000	0.71417	0.683000	0.30040	0.243000	0.25628	5.293000	0.65680	0.777000	0.33496	-0.742000	0.03525	GTT		PASS	0.398	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		74	61	74	61	---	---	---	---
DDIT4L	115265	broad.mit.edu	37	4	101109190	101109190	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr4:101109190A>G	ENST00000273990.2	-	3	440	c.226T>C	c.(226-228)Tca>Cca	p.S76P	RP11-15B17.1_ENST00000515026.1_RNA|RP11-588P8.1_ENST00000515782.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	76					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)		p.S76P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		AGGACCTTTGAGCAACCAAGT	0.463																																						uc003hvq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(226-228)TCA>CCA		DNA-damage-inducible transcript 4-like							141.0	137.0	138.0					4																	101109190		2203	4300	6503	SO:0001583	missense	115265				negative regulation of signal transduction	cytoplasm		g.chr4:101109190A>G	BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"""regulated in development and DNA damage response 2"", "" similar to Smhs1 protein"""	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.226T>C	4.37:g.101109190A>G	ENSP00000354830:p.Ser76Pro						p.S76P	NM_145244	NP_660287	Q96D03	DDT4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)	3	429	-			76					B2R7C3	Missense_Mutation	SNP	ENST00000273990.2	37	c.226T>C	CCDS34036.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.817287	0.70912	.	.	ENSG00000145358	ENST00000273990;ENST00000502763;ENST00000513992	T;T;T	0.48522	0.81;0.81;0.81	5.63	5.63	0.86233	.	0.064020	0.64402	D	0.000005	T	0.61899	0.2384	L	0.59436	1.845	0.46113	D	0.998875	D	0.76494	0.999	D	0.69824	0.966	T	0.64956	-0.6285	10	0.72032	D	0.01	-3.5163	10.1459	0.42762	0.8509:0.0:0.0:0.1491	.	76	Q96D03	DDT4L_HUMAN	P	76	ENSP00000354830:S76P;ENSP00000427301:S76P;ENSP00000427040:S76P	ENSP00000354830:S76P	S	-	1	0	DDIT4L	101328213	1.000000	0.71417	0.992000	0.48379	0.961000	0.63080	4.302000	0.59092	2.145000	0.66743	0.533000	0.62120	TCA		PASS	0.463	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363423.1	NM_145244		5	203	5	203	---	---	---	---
QRFPR	84109	broad.mit.edu	37	4	122250738	122250738	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr4:122250738C>T	ENST00000394427.2	-	6	1438	c.1027G>A	c.(1027-1029)Gtt>Att	p.V343I	Y_RNA_ENST00000384419.1_RNA|QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	343					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.V343I(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GCAGACAAAACATTTTTTTTG	0.328																																						uc010inj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1027-1029)GTT>ATT		G protein-coupled receptor 103							73.0	73.0	73.0					4																	122250738		2202	4300	6502	SO:0001583	missense	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122250738C>T	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.1027G>A	4.37:g.122250738C>T	ENSP00000377948:p.Val343Ile					QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_3'UTR	p.V343I	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN			6	1406	-			343			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000394427.2	37	c.1027G>A	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835179	0.50951	.	.	ENSG00000186867	ENST00000394427	T	0.37752	1.18	5.32	4.15	0.48705	.	0.158230	0.56097	D	0.000024	T	0.21062	0.0507	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.03706	-1.1011	10	0.72032	D	0.01	.	12.0998	0.53776	0.8304:0.1696:0.0:0.0	.	343	Q96P65	QRFPR_HUMAN	I	343	ENSP00000377948:V343I	ENSP00000377948:V343I	V	-	1	0	QRFPR	122470188	1.000000	0.71417	0.497000	0.27552	0.992000	0.81027	6.860000	0.75473	0.841000	0.35020	0.491000	0.48974	GTT		PASS	0.328	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		67	22	67	22	---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125593263	125593263	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr4:125593263T>C	ENST00000504087.1	-	4	2206	c.1169A>G	c.(1168-1170)gAt>gGt	p.D390G	ANKRD50_ENST00000515641.1_Missense_Mutation_p.D211G	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	390								p.D390G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GGAGAGGATATCTAACTTGCG	0.393																																						uc003ifg.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1168-1170)GAT>GGT		ankyrin repeat domain 50							128.0	130.0	129.0					4																	125593263		2202	4300	6502	SO:0001583	missense	57182							g.chr4:125593263T>C	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1169A>G	4.37:g.125593263T>C	ENSP00000425658:p.Asp390Gly					ANKRD50_uc011cgo.1_Missense_Mutation_p.D211G|ANKRD50_uc010inw.2_Missense_Mutation_p.D390G	p.D390G	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	1435	-			390					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.1169A>G	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.596770	0.46318	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.68181	-0.31;-0.26	5.29	5.29	0.74685	.	0.198103	0.43919	D	0.000519	T	0.55862	0.1947	L	0.38175	1.15	0.58432	D	0.999996	P	0.36110	0.537	B	0.31686	0.134	T	0.58825	-0.7568	10	0.42905	T	0.14	.	15.3937	0.74774	0.0:0.0:0.0:1.0	.	390	Q9ULJ7	ANR50_HUMAN	G	390;211	ENSP00000425658:D390G;ENSP00000425355:D211G	ENSP00000425658:D390G	D	-	2	0	ANKRD50	125812713	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.365000	0.79537	2.222000	0.72286	0.454000	0.30748	GAT		PASS	0.393	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		6	183	6	183	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126237699	126237699	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr4:126237699C>T	ENST00000394329.3	+	1	146	c.133C>T	c.(133-135)Ccg>Tcg	p.P45S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	45	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P45S(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CGGGGCCGAGCCGCGCCAGGT	0.622											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(133-135)CCG>TCG		FAT tumor suppressor homolog 4 precursor							57.0	68.0	64.0					4																	126237699		1940	4125	6065	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126237699C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.133C>T	4.37:g.126237699C>T	ENSP00000377862:p.Pro45Ser		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.P45S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	133	+			45			Cadherin 1.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.133C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	7.221	0.597343	0.13875	.	.	ENSG00000196159	ENST00000394329	T	0.72167	-0.63	4.88	4.88	0.63580	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.50854	0.1640	N	0.10782	0.045	0.80722	D	1	B	0.16603	0.018	B	0.12156	0.007	T	0.49457	-0.8938	9	0.07644	T	0.81	.	17.8461	0.88730	0.0:1.0:0.0:0.0	.	45	Q6V0I7	FAT4_HUMAN	S	45	ENSP00000377862:P45S	ENSP00000377862:P45S	P	+	1	0	FAT4	126457149	1.000000	0.71417	0.999000	0.59377	0.327000	0.28475	3.060000	0.49955	2.519000	0.84933	0.650000	0.86243	CCG		PASS	0.622	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		3	37	3	37	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2				Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		139	Substitution - Missense(138)|Unknown(1)	p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1513-1515)CGC>GGC		F-box and WD repeat domain containing 7 isoform							167.0	156.0	160.0					4																	153247289		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247289G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly					FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G	p.R505G	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1662	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).	WD 4.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1513C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC		PASS	0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			78	21	78	21	---	---	---	---
NPY1R	4886	broad.mit.edu	37	4	164246622	164246622	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr4:164246622C>G	ENST00000296533.2	-	3	1519	c.988G>C	c.(988-990)Gac>Cac	p.D330H	NPY1R_ENST00000509586.1_Missense_Mutation_p.D87H	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	330					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.D330H(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AACTGCAAGTCTCTCTGGAAG	0.423																																						uc003iqm.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(988-990)GAC>CAC		neuropeptide Y receptor Y1							116.0	127.0	123.0					4																	164246622		2203	4300	6503	SO:0001583	missense	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164246622C>G		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.988G>C	4.37:g.164246622C>G	ENSP00000354652:p.Asp330His					NPY1R_uc011cjj.1_Missense_Mutation_p.D87H	p.D330H	NM_000909	NP_000900	P25929	NPY1R_HUMAN			3	1254	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	330			Cytoplasmic (Potential).		B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.988G>C	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217885	0.58560	.	.	ENSG00000164128	ENST00000296533;ENST00000509586	T;T	0.55760	0.5;0.5	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.71660	0.3366	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.73257	-0.4040	10	0.66056	D	0.02	.	19.3503	0.94381	0.0:1.0:0.0:0.0	.	330	P25929	NPY1R_HUMAN	H	330;87	ENSP00000354652:D330H;ENSP00000427284:D87H	ENSP00000354652:D330H	D	-	1	0	NPY1R	164466072	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.577000	0.46042	2.565000	0.86533	0.655000	0.94253	GAC		PASS	0.423	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			79	27	79	27	---	---	---	---
GPM6A	2823	broad.mit.edu	37	4	176556084	176556084	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr4:176556084G>T	ENST00000280187.7	-	8	854	c.809C>A	c.(808-810)tCc>tAc	p.S270Y	GPM6A_ENST00000393658.2_Missense_Mutation_p.S270Y|GPM6A_ENST00000506894.1_Missense_Mutation_p.S259Y|GPM6A_ENST00000515090.1_Missense_Mutation_p.S263Y|GPM6A_ENST00000506219.1_5'UTR	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	270					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.S270Y(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CCGCTCTTTGGAGCGAGTAGA	0.468																																						uc003iuf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(808-810)TCC>TAC		glycoprotein M6A isoform 2							126.0	109.0	115.0					4																	176556084		2203	4300	6503	SO:0001583	missense	2823					cell surface|integral to membrane		g.chr4:176556084G>T		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.809C>A	4.37:g.176556084G>T	ENSP00000280187:p.Ser270Tyr					GPM6A_uc011ckj.1_Missense_Mutation_p.S263Y|GPM6A_uc003iug.2_Missense_Mutation_p.S270Y|GPM6A_uc003iuh.2_Missense_Mutation_p.S259Y	p.S270Y	NM_201591	NP_963885	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	7	1613	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	270			Cytoplasmic (Potential).		B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	c.809C>A	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098038	0.94197	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090	D;D;D;D	0.99409	-5.78;-5.78;-5.82;-5.85	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.99429	0.9798	M	0.63843	1.955	0.80722	D	1	D;D;D	0.65815	0.995;0.995;0.995	D;D;D	0.75484	0.986;0.986;0.986	D	0.99552	1.0966	10	0.87932	D	0	-13.0527	20.3626	0.98863	0.0:0.0:1.0:0.0	.	263;259;270	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	Y	270;270;259;263	ENSP00000280187:S270Y;ENSP00000377268:S270Y;ENSP00000421578:S259Y;ENSP00000423984:S263Y	ENSP00000280187:S270Y	S	-	2	0	GPM6A	176793078	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.420000	0.97426	2.885000	0.99019	0.655000	0.94253	TCC		PASS	0.468	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			62	24	62	24	---	---	---	---
HELT	391723	broad.mit.edu	37	4	185940564	185940564	+	Silent	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr4:185940564G>C	ENST00000515777.1	+	2	139	c.51G>C	c.(49-51)gtG>gtC	p.V17V	HELT_ENST00000338875.4_Silent_p.V61V|HELT_ENST00000505610.1_Silent_p.V17V			A6NFD8	HELT_HUMAN	helt bHLH transcription factor	17	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V61V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CTCATAAAGTGATAGAAAAGC	0.572																																						uc011ckq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(181-183)GTG>GTC		HES/HEY-like transcription factor							36.0	37.0	37.0					4																	185940564		2202	4300	6502	SO:0001819	synonymous_variant	391723						DNA binding	g.chr4:185940564G>C	BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"""Basic helix-loop-helix proteins"""	33783	protein-coding gene	gene with protein product	"""megane bHLH factor"", ""HES-like"""		"""Hey-like transcription factor (zebrafish)"", ""HES/HEY-like transcription factor"""			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.51G>C	4.37:g.185940564G>C						HELT_uc011cko.1_Silent_p.V17V|HELT_uc003ixa.3_Silent_p.V17V|HELT_uc011ckp.1_5'UTR	p.V61V	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	2	183	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	61			Basic motif.		B2RTS5|B7ZMI7|B7ZMI8	Silent	SNP	ENST00000515777.1	37	c.183G>C																																																																																					PASS	0.572	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000360792.1	NM_001300781		12	2	12	2	---	---	---	---
SRD5A1	6715	broad.mit.edu	37	5	6652021	6652021	+	Silent	SNP	G	G	A	rs142854865	byFrequency	TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr5:6652021G>A	ENST00000274192.5	+	2	594	c.360G>A	c.(358-360)gcG>gcA	p.A120A	SRD5A1_ENST00000504286.1_3'UTR|SRD5A1_ENST00000538824.1_Intron|SRD5A1_ENST00000537411.1_3'UTR	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	120					androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)	p.A120A(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	GTACAATGGCGATTATGTTCT	0.423																																						uc003jdw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(358-360)GCG>GCA		steroid-5-alpha-reductase 1	Dutasteride(DB01126)|Finasteride(DB01216)	G		1,4405	2.1+/-5.4	0,1,2202	189.0	162.0	171.0		360	-11.4	0.0	5	dbSNP_134	171	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SRD5A1	NM_001047.2		0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384		120/260	6652021	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	6715				androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	g.chr5:6652021G>A	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.360G>A	5.37:g.6652021G>A						SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Intron	p.A120A	NM_001047	NP_001038	P18405	S5A1_HUMAN			2	550	+			120			Helical; (Potential).		B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Silent	SNP	ENST00000274192.5	37	c.360G>A	CCDS3870.1																																																																																				PASS	0.423	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		87	67	87	67	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11199612	11199612	+	Silent	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr5:11199612C>G	ENST00000304623.8	-	11	2112	c.1923G>C	c.(1921-1923)ctG>ctC	p.L641L	CTNND2_ENST00000503622.1_Silent_p.L304L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.L641L|CTNND2_ENST00000511377.1_Silent_p.L550L|CTNND2_ENST00000458100.2_Silent_p.L208L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	641					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L641L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAACCTCACCAGTGCTGGGA	0.453																																						uc003jfa.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1921-1923)CTG>CTC		catenin (cadherin-associated protein), delta 2							161.0	162.0	162.0					5																	11199612		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11199612C>G	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1923G>C	5.37:g.11199612C>G						CTNND2_uc010itt.2_Silent_p.L550L|CTNND2_uc011cmy.1_Silent_p.L304L|CTNND2_uc011cmz.1_Silent_p.L208L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.L208L	p.L641L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			11	2068	-			641			ARM 4.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.1923G>C	CCDS3881.1																																																																																				PASS	0.453	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		92	86	92	86	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24535284	24535284	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr5:24535284C>G	ENST00000264463.4	-	5	1258	c.751G>C	c.(751-753)Ggg>Cgg	p.G251R		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	251	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G251R(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTGGTTGTCCCCGATAAGCCT	0.512										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(751-753)GGG>CGG		cadherin 10, type 2 preproprotein							204.0	159.0	175.0					5																	24535284		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535284C>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.751G>C	5.37:g.24535284C>G	ENSP00000264463:p.Gly251Arg	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.G251R	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	5	1083	-			251			Cadherin 2.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.751G>C	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441648	0.63067	.	.	ENSG00000040731	ENST00000264463	T	0.01787	4.64	5.6	5.6	0.85130	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.12689	0.0308	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.00069	-1.2137	10	0.87932	D	0	.	18.5928	0.91220	0.0:1.0:0.0:0.0	.	251	Q9Y6N8	CAD10_HUMAN	R	251	ENSP00000264463:G251R	ENSP00000264463:G251R	G	-	1	0	CDH10	24571041	1.000000	0.71417	0.941000	0.38009	0.005000	0.04900	7.818000	0.86416	2.639000	0.89480	0.591000	0.81541	GGG		PASS	0.512	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		40	78	40	78	---	---	---	---
AMACR	23600	broad.mit.edu	37	5	34004781	34004781	+	Silent	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr5:34004781C>A	ENST00000335606.6	-	3	538	c.450G>T	c.(448-450)ctG>ctT	p.L150L	AMACR_ENST00000426255.2_Silent_p.L150L|AMACR_ENST00000441713.2_Intron|AMACR_ENST00000382072.2_Intron|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000512079.1_Silent_p.L150L|AMACR_ENST00000514195.1_Intron|AMACR_ENST00000382085.3_Silent_p.L150L|AMACR_ENST00000382068.3_Intron|AMACR_ENST00000502637.1_Silent_p.L150L	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	150				L -> V (in Ref. 1; CAB44062). {ECO:0000305}.	bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)	p.L150L(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						CAAAGTCAGCCAGGAGATTCA	0.428																																						uc003jig.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(448-450)CTG>CTT		alpha-methylacyl-CoA racemase isoform 1							106.0	98.0	101.0					5																	34004781		2203	4300	6503	SO:0001819	synonymous_variant	23600				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	g.chr5:34004781C>A	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.450G>T	5.37:g.34004781C>A						AMACR_uc003jih.2_Intron|AMACR_uc003jii.2_Silent_p.L150L|AMACR_uc003jij.2_Silent_p.L150L|AMACR_uc003jil.1_Silent_p.L150L|AMACR_uc003jik.1_Intron	p.L150L	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN			3	532	-			150	L -> V (in Ref. 1; CAB44062).				A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Silent	SNP	ENST00000335606.6	37	c.450G>T	CCDS3902.1																																																																																				PASS	0.428	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		31	86	31	86	---	---	---	---
LMBRD2	92255	broad.mit.edu	37	5	36122994	36122994	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr5:36122994T>C	ENST00000296603.4	-	8	1354	c.892A>G	c.(892-894)Agt>Ggt	p.S298G		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	298						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S298G(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGATAGATACTATGCTTTTCA	0.264																																						uc003jkb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(892-894)AGT>GGT		LMBR1 domain containing 2							69.0	75.0	73.0					5																	36122994		2202	4286	6488	SO:0001583	missense	92255					integral to membrane		g.chr5:36122994T>C		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.892A>G	5.37:g.36122994T>C	ENSP00000296603:p.Ser298Gly						p.S298G	NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		8	1307	-	all_lung(31;0.000146)		298			Cytoplasmic (Potential).		B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	c.892A>G	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.508160	0.44660	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.27720	1.65	5.18	5.18	0.71444	LMBR1-like membrane protein (1);	0.050195	0.85682	D	0.000000	T	0.17280	0.0415	N	0.08118	0	0.21950	N	0.999454	B	0.02656	0.0	B	0.01281	0.0	T	0.11966	-1.0566	10	0.21014	T	0.42	-15.5129	15.3372	0.74266	0.0:0.0:0.0:1.0	.	298	Q68DH5	LMBD2_HUMAN	G	298;192	ENSP00000296603:S298G	ENSP00000296603:S298G	S	-	1	0	LMBRD2	36158751	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	4.639000	0.61361	2.069000	0.61940	0.528000	0.53228	AGT		PASS	0.264	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		28	43	28	43	---	---	---	---
C6	729	broad.mit.edu	37	5	41143068	41143068	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr5:41143068G>T	ENST00000263413.3	-	18	2928	c.2664C>A	c.(2662-2664)tgC>tgA	p.C888*	C6_ENST00000337836.5_Nonsense_Mutation_p.C888*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	888	C5b-binding domain.|Factor I module (FIM) 2.|Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.C888*(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACCCTTGAAGCACTGTGGGG	0.433																																						uc003jmk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(2662-2664)TGC>TGA		complement component 6 precursor							152.0	131.0	138.0					5																	41143068		2203	4300	6503	SO:0001587	stop_gained	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41143068G>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2664C>A	5.37:g.41143068G>T	ENSP00000263413:p.Cys888*					C6_uc003jml.1_Nonsense_Mutation_p.C888*	p.C888*	NM_000065	NP_000056	P13671	CO6_HUMAN			18	2874	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	888			Complement control factor I module 2.|C5b-binding domain.|Kazal-like 2.			Nonsense_Mutation	SNP	ENST00000263413.3	37	c.2664C>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	38	6.670383	0.97751	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	.	.	.	5.71	0.407	0.16371	.	0.089077	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6113	9.9378	0.41561	0.5502:0.0:0.4498:0.0	.	.	.	.	X	888	.	ENSP00000263413:C888X	C	-	3	2	C6	41178825	0.041000	0.20044	0.293000	0.24932	0.668000	0.39293	0.188000	0.17018	0.233000	0.21120	-0.142000	0.14014	TGC		PASS	0.433	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			34	67	34	67	---	---	---	---
ATG10	83734	broad.mit.edu	37	5	81549141	81549141	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr5:81549141A>G	ENST00000282185.3	+	7	854	c.560A>G	c.(559-561)aAc>aGc	p.N187S	ATG10_ENST00000514253.2_Intron|ATG10_ENST00000458350.3_Missense_Mutation_p.N187S	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	187					autophagy (GO:0006914)|autophagy in response to ER overload (GO:0034263)|positive regulation of protein modification process (GO:0031401)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	Atg12 ligase activity (GO:0019777)	p.N187S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		AGGAATGTCAACTATATCACA	0.423																																						uc003khs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)AAC>AGC		APG10 autophagy 10-like							167.0	142.0	151.0					5																	81549141		2203	4300	6503	SO:0001583	missense	83734				autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding	g.chr5:81549141A>G	AK024016	CCDS4057.1	5q14.1	2014-02-12	2012-06-06	2005-09-11	ENSG00000152348	ENSG00000152348			20315	protein-coding gene	gene with protein product		610800	"""APG10 autophagy 10-like (S. cerevisiae)"", ""ATG10 autophagy related 10 homolog (S. cerevisiae)"""	APG10L			Standard	NM_031482		Approved	DKFZP586I0418, FLJ13954	uc003khr.3	Q9H0Y0	OTTHUMG00000119041	ENST00000282185.3:c.560A>G	5.37:g.81549141A>G	ENSP00000282185:p.Asn187Ser					ATG10_uc003khr.2_Missense_Mutation_p.N187S|ATG10_uc010jas.2_Missense_Mutation_p.N151S	p.N187S	NM_001131028	NP_001124500	Q9H0Y0	ATG10_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)	8	989	+		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)	187					B2RE09|Q6PIX1|Q9H842	Missense_Mutation	SNP	ENST00000282185.3	37	c.560A>G	CCDS4057.1	.	.	.	.	.	.	.	.	.	.	A	18.58	3.653709	0.67472	.	.	ENSG00000152348	ENST00000282185;ENST00000458350	T;T	0.24723	1.84;1.84	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	M	0.66939	2.045	0.80722	D	1	P	0.52316	0.952	B	0.41860	0.368	T	0.11966	-1.0566	10	0.09590	T	0.72	-19.3079	14.1639	0.65464	1.0:0.0:0.0:0.0	.	187	Q9H0Y0	ATG10_HUMAN	S	187	ENSP00000282185:N187S;ENSP00000404938:N187S	ENSP00000282185:N187S	N	+	2	0	ATG10	81584897	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	5.504000	0.66968	2.326000	0.78906	0.533000	0.62120	AAC		PASS	0.423	ATG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239252.2	NM_001131028		52	62	52	62	---	---	---	---
HAPLN1	1404	broad.mit.edu	37	5	82937507	82937507	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr5:82937507C>A	ENST00000274341.4	-	5	1723	c.873G>T	c.(871-873)caG>caT	p.Q291H		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	291	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.Q291H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CAGCAAATATCTGGCCCACTT	0.532																																						uc003kim.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(871-873)CAG>CAT		hyaluronan and proteoglycan link protein 1							157.0	158.0	158.0					5																	82937507		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82937507C>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.873G>T	5.37:g.82937507C>A	ENSP00000274341:p.Gln291His					HAPLN1_uc003kin.2_Missense_Mutation_p.Q291H	p.Q291H	NM_001884	NP_001875	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	4	944	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	291			Link 2.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.873G>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	9.587	1.125243	0.20959	.	.	ENSG00000145681	ENST00000274341	T	0.10763	2.84	5.22	5.22	0.72569	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.15219	0.0367	L	0.55834	1.745	0.80722	D	1	B	0.23990	0.095	B	0.34038	0.174	T	0.02596	-1.1136	10	0.40728	T	0.16	.	13.4682	0.61268	0.0:0.9249:0.0:0.0751	.	291	P10915	HPLN1_HUMAN	H	291	ENSP00000274341:Q291H	ENSP00000274341:Q291H	Q	-	3	2	HAPLN1	82973263	0.998000	0.40836	0.994000	0.49952	0.781000	0.44180	0.630000	0.24553	2.581000	0.87130	0.655000	0.94253	CAG		PASS	0.532	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		89	236	89	236	---	---	---	---
MCTP1	79772	broad.mit.edu	37	5	94224657	94224657	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr5:94224657G>T	ENST00000515393.1	-	12	1859	c.1860C>A	c.(1858-1860)caC>caA	p.H620Q	MCTP1_ENST00000312216.8_Missense_Mutation_p.H399Q|MCTP1_ENST00000429576.2_Missense_Mutation_p.H353Q|MCTP1_ENST00000505078.1_Missense_Mutation_p.H136Q|MCTP1_ENST00000505208.1_Missense_Mutation_p.H399Q	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	620	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.H620Q(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTTTCAGGTTGTGAAATATCC	0.438																																						uc003kkx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1858-1860)CAC>CAA		multiple C2 domains, transmembrane 1 isoform L							95.0	95.0	95.0					5																	94224657		2203	4300	6503	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94224657G>T		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1860C>A	5.37:g.94224657G>T	ENSP00000424126:p.His620Gln					MCTP1_uc003kkv.2_Missense_Mutation_p.H399Q|MCTP1_uc003kkw.2_Missense_Mutation_p.H353Q|MCTP1_uc003kkz.2_Missense_Mutation_p.H281Q|MCTP1_uc003kku.2_Missense_Mutation_p.H136Q	p.H620Q	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	12	1860	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	620			C2 3.		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.1860C>A	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	G	9.412	1.080656	0.20309	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509;ENST00000512425;ENST00000505208;ENST00000506568	T;T;T;T;T;T;T;T	0.76060	-0.99;-0.71;0.05;-0.87;-0.69;-0.8;-0.98;-0.61	5.65	3.84	0.44239	.	0.402113	0.29087	N	0.013192	T	0.47563	0.1452	N	0.04297	-0.235	0.38072	D	0.936406	B;B;B	0.15473	0.012;0.013;0.002	B;B;B	0.17098	0.008;0.017;0.007	T	0.43245	-0.9403	10	0.09084	T	0.74	-10.9723	9.4758	0.38871	0.247:0.0:0.753:0.0	.	620;353;399	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	Q	620;353;136;399;340;281;399;221	ENSP00000424126:H620Q;ENSP00000391639:H353Q;ENSP00000426417:H136Q;ENSP00000308957:H399Q;ENSP00000423410:H340Q;ENSP00000431075:H281Q;ENSP00000426438:H399Q;ENSP00000426294:H221Q	ENSP00000308957:H399Q	H	-	3	2	MCTP1	94250413	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.567000	0.45956	1.527000	0.49086	0.655000	0.94253	CAC		PASS	0.438	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		66	53	66	53	---	---	---	---
SLCO4C1	353189	broad.mit.edu	37	5	101599460	101599460	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr5:101599460A>G	ENST00000310954.6	-	4	1113	c.827T>C	c.(826-828)tTa>tCa	p.L276S		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.L276S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGCAGGGCCTAAGATTGACAT	0.368																																						uc003knm.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.(826-828)TTA>TCA		solute carrier organic anion transporter family,							143.0	136.0	139.0					5																	101599460		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101599460A>G	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.827T>C	5.37:g.101599460A>G	ENSP00000309741:p.Leu276Ser						p.L276S	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	4	1114	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	276			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000310954.6	37	c.827T>C	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.550621	0.65311	.	.	ENSG00000173930	ENST00000310954	T	0.52295	0.67	5.24	5.24	0.73138	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.122413	0.35495	N	0.003176	T	0.66858	0.2832	M	0.87971	2.92	0.27498	N	0.95206	P	0.41978	0.767	P	0.51516	0.672	T	0.67356	-0.5691	10	0.87932	D	0	.	15.4299	0.75084	1.0:0.0:0.0:0.0	.	276	Q6ZQN7	SO4C1_HUMAN	S	276	ENSP00000309741:L276S	ENSP00000309741:L276S	L	-	2	0	SLCO4C1	101627359	1.000000	0.71417	0.366000	0.25914	0.776000	0.43924	6.423000	0.73361	2.100000	0.63781	0.528000	0.53228	TTA		PASS	0.368	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		77	61	77	61	---	---	---	---
GIN1	54826	broad.mit.edu	37	5	102440247	102440247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr5:102440247G>A	ENST00000399004.2	-	4	731	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	GIN1_ENST00000508629.1_Nonsense_Mutation_p.Q213*|GIN1_ENST00000511400.1_5'UTR	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	213	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)	p.Q213*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TGTCTTACCTGTTGAATGAAT	0.338																																						uc003koa.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(637-639)CAG>TAG		zinc finger, H2C2 domain containing							43.0	39.0	40.0					5																	102440247		1826	4080	5906	SO:0001587	stop_gained	54826				DNA integration		DNA binding	g.chr5:102440247G>A	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.637C>T	5.37:g.102440247G>A	ENSP00000381970:p.Gln213*					GIN1_uc003kob.1_Nonsense_Mutation_p.Q66*|GIN1_uc003koc.1_Nonsense_Mutation_p.Q213*	p.Q213*	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)	4	719	-		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)	213			Integrase catalytic.		B2RXF7|B4DIV4|Q6AI03|Q96BR2	Nonsense_Mutation	SNP	ENST00000399004.2	37	c.637C>T	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116953	0.94385	.	.	ENSG00000145723	ENST00000399004;ENST00000508629	.	.	.	5.61	4.74	0.60224	.	0.129248	0.35124	N	0.003428	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-2.2359	14.7545	0.69552	0.0:0.1531:0.8469:0.0	.	.	.	.	X	213	.	ENSP00000381970:Q213X	Q	-	1	0	GIN1	102468146	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.395000	0.59678	1.353000	0.45828	0.555000	0.69702	CAG		PASS	0.338	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		8	28	8	28	---	---	---	---
TSLP	85480	broad.mit.edu	37	5	110407609	110407609	+	Silent	SNP	A	A	G	rs149732987	byFrequency	TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr5:110407609A>G	ENST00000344895.3	+	1	220	c.21A>G	c.(19-21)ctA>ctG	p.L7L	TSLP_ENST00000379706.4_5'Flank|TSLP_ENST00000420978.2_Intron	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	7				MFPFALLYVLS -> MKCLGQSKKEE (in Ref. 3; AAH40592). {ECO:0000305}.		extracellular space (GO:0005615)		p.L7L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTGCCTTACTATATGTTCTGT	0.418																																						uc003kpb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(19-21)CTA>CTG		thymic stromal lymphopoietin isoform 1		A		1,4403	2.1+/-5.4	0,1,2201	253.0	224.0	234.0		21	-3.6	0.0	5	dbSNP_134	234	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TSLP	NM_033035.4		0,2,6500	GG,GA,AA		0.0116,0.0227,0.0154		7/160	110407609	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	85480					extracellular space	cytokine activity	g.chr5:110407609A>G	BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777			30743	protein-coding gene	gene with protein product		607003				11418668, 11480573	Standard	NM_033035		Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791	ENST00000344895.3:c.21A>G	5.37:g.110407609A>G						TSLP_uc003kpa.2_Intron|TSLP_uc010jbt.1_5'Flank	p.L7L	NM_033035	NP_149024	Q969D9	TSLP_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)	1	220	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)	7	MFPFALLYVLS -> MKCLGQSKKEE (in Ref. 3; AAH40592).				Q8IW99	Silent	SNP	ENST00000344895.3	37	c.21A>G	CCDS4101.1																																																																																				PASS	0.418	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250717.1	NM_033035		119	77	119	77	---	---	---	---
WDR36	134430	broad.mit.edu	37	5	110443093	110443093	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr5:110443093C>G	ENST00000513710.2	+	12	1453	c.1449C>G	c.(1447-1449)taC>taG	p.Y483*	WDR36_ENST00000505303.1_Nonsense_Mutation_p.Y427*|WDR36_ENST00000506538.2_Nonsense_Mutation_p.Y483*			Q8NI36	WDR36_HUMAN	WD repeat domain 36	483					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.Y483*(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TAGGCGCTTACTTTCTCAAGC	0.383																																						uc003kpd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1447-1449)TAC>TAG		WD repeat domain 36							69.0	70.0	70.0					5																	110443093		2202	4298	6500	SO:0001587	stop_gained	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110443093C>G	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1449C>G	5.37:g.110443093C>G	ENSP00000424628:p.Tyr483*					WDR36_uc010jbu.2_RNA	p.Y483*	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	12	1566	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	483					A2RUS4|Q68E02|Q8N1Q2	Nonsense_Mutation	SNP	ENST00000513710.2	37	c.1449C>G	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	C	34	5.359238	0.95854	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	.	.	.	4.91	1.54	0.23209	.	0.099812	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.9682	10.1934	0.43041	0.0:0.6451:0.0:0.3549	.	.	.	.	X	483;483;427	.	ENSP00000422158:Y427X	Y	+	3	2	WDR36	110470992	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	0.949000	0.29109	0.576000	0.29452	0.467000	0.42956	TAC		PASS	0.383	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		48	33	48	33	---	---	---	---
IL3	3562	broad.mit.edu	37	5	131396427	131396427	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr5:131396427C>T	ENST00000296870.2	+	1	206	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	10					cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)	p.L10F(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	CCTGCTCCTGCTCCAACTCCT	0.567																																						uc003kwe.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(28-30)CTC>TTC		interleukin 3 precursor	Amlexanox(DB01025)						98.0	90.0	93.0					5																	131396427		2203	4300	6503	SO:0001583	missense	3562				cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding	g.chr5:131396427C>T	M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"""Interleukins and interleukin receptors"""	6011	protein-coding gene	gene with protein product	"""multilineage-colony-stimulating factor"", ""hematopoietic growth factor"", ""P-cell stimulating factor"", ""mast-cell growth factor"", ""colony-stimulating factor, multiple"""	147740	"""interleukin 3 (colony-stimulating factor, multiple)"""			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.28C>T	5.37:g.131396427C>T	ENSP00000296870:p.Leu10Phe						p.L10F	NM_000588	NP_000579	P08700	IL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	1	81	+		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	10					Q6GS87	Missense_Mutation	SNP	ENST00000296870.2	37	c.28C>T	CCDS4149.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005084	0.35415	.	.	ENSG00000164399	ENST00000296870	T	0.38077	1.16	4.36	1.53	0.23141	.	0.261165	0.20455	N	0.092005	T	0.38161	0.1030	L	0.36672	1.1	0.09310	N	1	D	0.65815	0.995	P	0.57324	0.818	T	0.13415	-1.0510	10	0.87932	D	0	-26.163	6.4288	0.21784	0.0:0.544:0.3577:0.0983	.	10	P08700	IL3_HUMAN	F	10	ENSP00000296870:L10F	ENSP00000296870:L10F	L	+	1	0	IL3	131424326	0.000000	0.05858	0.005000	0.12908	0.038000	0.13279	-0.269000	0.08596	0.330000	0.23485	0.561000	0.74099	CTC		PASS	0.567	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132639.1	NM_000588		46	12	46	12	---	---	---	---
GABRA1	2554	broad.mit.edu	37	5	161318025	161318025	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr5:161318025C>A	ENST00000428797.2	+	9	1180	c.825C>A	c.(823-825)aaC>aaA	p.N275K	GABRA1_ENST00000420560.1_Missense_Mutation_p.N275K|GABRA1_ENST00000023897.6_Missense_Mutation_p.N275K|GABRA1_ENST00000393943.4_Missense_Mutation_p.N275K|GABRA1_ENST00000437025.2_Missense_Mutation_p.N275K|GABRA1_ENST00000444819.1_Missense_Mutation_p.N275K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	275					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.N275K(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCTGGCTCAACAGAGAGTCTG	0.413																																						uc010jiw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(823-825)AAC>AAA		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						122.0	118.0	119.0					5																	161318025		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161318025C>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.825C>A	5.37:g.161318025C>A	ENSP00000393097:p.Asn275Lys					GABRA1_uc010jix.2_Missense_Mutation_p.N275K|GABRA1_uc010jiy.2_Missense_Mutation_p.N275K|GABRA1_uc003lyx.3_Missense_Mutation_p.N275K|GABRA1_uc010jiz.2_Missense_Mutation_p.N275K|GABRA1_uc010jja.2_Missense_Mutation_p.N275K|GABRA1_uc010jjb.2_Missense_Mutation_p.N275K	p.N275K	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	9	1293	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	275					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.825C>A	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043864	0.75732	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	5.52	3.74	0.42951	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90109	0.6910	L	0.58354	1.805	0.58432	D	0.999999	D	0.71674	0.998	D	0.67725	0.953	D	0.88739	0.3242	10	0.59425	D	0.04	.	8.9112	0.35555	0.0:0.7765:0.0:0.2235	.	275	P14867	GBRA1_HUMAN	K	275	ENSP00000023897:N275K;ENSP00000393097:N275K;ENSP00000377517:N275K;ENSP00000415441:N275K;ENSP00000408041:N275K;ENSP00000414232:N275K	ENSP00000023897:N275K	N	+	3	2	GABRA1	161250603	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.600000	0.36762	0.703000	0.31848	0.650000	0.86243	AAC		PASS	0.413	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		55	24	55	24	---	---	---	---
BNIP1	662	broad.mit.edu	37	5	172585748	172585748	+	Splice_Site	SNP	A	A	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr5:172585748A>C	ENST00000351486.5	+	4	302	c.271A>C	c.(271-273)Aat>Cat	p.N91H	BNIP1_ENST00000352523.6_Intron|BNIP1_ENST00000231668.9_Splice_Site_p.N134H|BNIP1_ENST00000393770.4_Intron	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	91					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.N134H(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAATTCCAGCAATCAGGCCTC	0.478																																						uc003mcj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(271-273)AAT>CAT		BCL2/adenovirus E1B 19kD interacting protein 1							121.0	101.0	107.0					5																	172585748		2203	4300	6503	SO:0001630	splice_region_variant	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172585748A>C	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.270-1A>C	5.37:g.172585748A>C						BNIP1_uc003mci.3_Missense_Mutation_p.N134H|BNIP1_uc003mck.3_Intron|BNIP1_uc003mcl.3_Intron	p.N91H	NM_001205	NP_001196	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		4	375	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	91			Cytoplasmic (Potential).		D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	ENST00000351486.5	37	c.271A>C	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.381854	0.42207	.	.	ENSG00000113734	ENST00000231668;ENST00000351486	T;T	0.48836	0.8;0.8	5.55	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	M	0.75447	2.3	0.80722	D	1	P;P	0.51057	0.776;0.941	B;P	0.54401	0.258;0.751	T	0.55835	-0.8078	10	0.21014	T	0.42	.	11.9136	0.52753	0.8694:0.0:0.0:0.1306	.	91;134	Q12981;Q12981-1	SEC20_HUMAN;.	H	134;91	ENSP00000231668:N134H;ENSP00000239215:N91H	ENSP00000231668:N134H	N	+	1	0	BNIP1	172518354	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	8.962000	0.93254	0.901000	0.36495	-0.336000	0.08194	AAT		PASS	0.478	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979	Missense_Mutation	33	11	33	11	---	---	---	---
FAM8A1	51439	broad.mit.edu	37	6	17600920	17600920	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr6:17600920G>C	ENST00000259963.3	+	1	335	c.280G>C	c.(280-282)Gag>Cag	p.E94Q		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	94						integral component of membrane (GO:0016021)		p.E94K(1)|p.E94Q(1)		endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GGCGGGCTGCGAGGCGCCCGA	0.731																																						uc003ncc.2																			2	Substitution - Missense(2)		lung(2)		0						c.(280-282)GAG>CAG		family with sequence similarity 8, member A1							8.0	9.0	9.0					6																	17600920		1943	3891	5834	SO:0001583	missense	51439					integral to membrane		g.chr6:17600920G>C	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.280G>C	6.37:g.17600920G>C	ENSP00000259963:p.Glu94Gln						p.E94Q	NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		1	403	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	94					B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	c.280G>C	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961540	0.53400	.	.	ENSG00000137414	ENST00000259963	.	.	.	3.27	3.27	0.37495	.	0.665957	0.13296	N	0.398619	T	0.09423	0.0232	L	0.27053	0.805	0.23577	N	0.997379	P	0.35982	0.531	B	0.31016	0.123	T	0.07809	-1.0753	9	0.30854	T	0.27	-4.5181	8.4962	0.33130	0.0:0.0:0.7685:0.2315	.	94	Q9UBU6	FA8A1_HUMAN	Q	94	.	ENSP00000259963:E94Q	E	+	1	0	FAM8A1	17708899	0.989000	0.36119	0.299000	0.25016	0.280000	0.26924	3.423000	0.52756	1.751000	0.51876	0.484000	0.47621	GAG		PASS	0.731	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			10	1	10	1	---	---	---	---
LRRC16A	55604	broad.mit.edu	37	6	25471400	25471400	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr6:25471400A>G	ENST00000329474.6	+	10	1062	c.694A>G	c.(694-696)Act>Gct	p.T232A	LRRC16A_ENST00000377969.3_Missense_Mutation_p.T71A	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	232					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.T232A(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GTTACAGTCCACTGATGTCTG	0.348																																						uc011djw.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(694-696)ACT>GCT		leucine rich repeat containing 16A							145.0	137.0	140.0					6																	25471400		1844	4093	5937	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25471400A>G	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.694A>G	6.37:g.25471400A>G	ENSP00000331983:p.Thr232Ala					LRRC16A_uc010jpx.2_Missense_Mutation_p.T232A|LRRC16A_uc010jpy.2_Missense_Mutation_p.T232A|LRRC16A_uc003nez.1_Missense_Mutation_p.T71A	p.T232A	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			10	1070	+			232					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.694A>G	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	A	8.496	0.863203	0.17250	.	.	ENSG00000079691	ENST00000329474;ENST00000399313;ENST00000377969	T;T	0.51574	0.7;0.7	5.3	1.5	0.22942	.	0.113515	0.64402	N	0.000010	T	0.04770	0.0129	N	0.01352	-0.895	0.41134	D	0.985901	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.23976	-1.0173	10	0.12430	T	0.62	.	4.3961	0.11363	0.5402:0.0:0.3185:0.1413	.	232;232;232;71	Q5VZK9;B2RTQ5;Q5VZK9-2;Q5VZK9-4	LR16A_HUMAN;.;.;.	A	232;232;71	ENSP00000331983:T232A;ENSP00000367206:T71A	ENSP00000331983:T232A	T	+	1	0	LRRC16A	25579379	0.316000	0.24580	0.961000	0.40146	0.997000	0.91878	0.408000	0.21065	0.072000	0.16694	0.528000	0.53228	ACT		PASS	0.348	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		106	14	106	14	---	---	---	---
MAS1L	116511	broad.mit.edu	37	6	29455059	29455059	+	Silent	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr6:29455059T>C	ENST00000377127.3	-	1	679	c.621A>G	c.(619-621)gtA>gtG	p.V207V		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	207					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V207V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AAAGTGATTTTACTATGTTGA	0.438																																					NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|lung(2)	9						c.(619-621)GTA>GTG		MAS1 oncogene-like							60.0	58.0	59.0					6																	29455059		2203	4300	6503	SO:0001819	synonymous_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455059T>C	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.621A>G	6.37:g.29455059T>C							p.V207V	NM_052967	NP_443199	P35410	MAS1L_HUMAN			1	621	-			207			Helical; Name=4; (Potential).		Q5SUN5	Silent	SNP	ENST00000377127.3	37	c.621A>G	CCDS4661.1																																																																																				PASS	0.438	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		98	11	98	11	---	---	---	---
TNF	7124	broad.mit.edu	37	6	31544973	31544973	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr6:31544973G>A	ENST00000449264.2	+	4	536	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	121					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)	p.D121N(1)		large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	GGAGCTGAGAGATAACCAGCT	0.632									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													uc003nui.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(361-363)GAT>AAT		tumor necrosis factor alpha	Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)						114.0	93.0	101.0					6																	31544973		1511	2709	4220	SO:0001583	missense	7124	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding	g.chr6:31544973G>A	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"""Tumor necrosis factor (ligand) superfamily"""	11892	protein-coding gene	gene with protein product	"""TNF superfamily, member 2"""	191160	"""tumor necrosis factor (TNF superfamily, member 2)"""	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.361G>A	6.37:g.31544973G>A	ENSP00000398698:p.Asp121Asn					TNF_uc003nuj.2_5'UTR	p.D121N	NM_000594	NP_000585	P01375	TNFA_HUMAN			4	530	+		Ovarian(999;0.00556)	121			Extracellular (Potential).		O43647|Q9P1Q2|Q9UIV3	Missense_Mutation	SNP	ENST00000449264.2	37	c.361G>A	CCDS4702.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751324	0.31046	.	.	ENSG00000232810	ENST00000449264	T	0.45668	0.89	5.41	3.62	0.41486	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.156361	0.56097	D	0.000033	T	0.20659	0.0497	L	0.41961	1.31	0.40165	D	0.977104	B	0.19583	0.037	B	0.30179	0.112	T	0.07347	-1.0777	10	0.41790	T	0.15	.	9.2699	0.37664	0.1743:0.0:0.8257:0.0	.	121	P01375	TNFA_HUMAN	N	121	ENSP00000398698:D121N	ENSP00000398698:D121N	D	+	1	0	TNF	31652952	0.959000	0.32827	0.911000	0.35937	0.688000	0.40055	1.457000	0.35212	1.287000	0.44583	0.563000	0.77884	GAT		PASS	0.632	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2			19	220	19	220	---	---	---	---
OPN5	221391	broad.mit.edu	37	6	47775994	47775994	+	Silent	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr6:47775994C>A	ENST00000371211.2	+	5	889	c.861C>A	c.(859-861)ctC>ctA	p.L287L	OPN5_ENST00000489301.2_Silent_p.L287L|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Silent_p.L287L	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	287					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.L287L(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CCATACAGCTCTCTGTGGTGC	0.458																																					Melanoma(28;740 973 10870 42660 45347)	uc003ozc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(859-861)CTC>CTA		opsin 5 isoform 1							286.0	256.0	266.0					6																	47775994		2203	4300	6503	SO:0001819	synonymous_variant	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47775994C>A	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.861C>A	6.37:g.47775994C>A						OPN5_uc003ozd.2_Silent_p.L122L	p.L287L	NM_181744	NP_859528	Q6U736	OPN5_HUMAN			5	866	+			287			Extracellular (Potential).		A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Silent	SNP	ENST00000371211.2	37	c.861C>A	CCDS4923.1																																																																																				PASS	0.458	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		314	47	314	47	---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	70972972	70972972	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr6:70972972C>G	ENST00000357250.6	-	19	1528	c.1370G>C	c.(1369-1371)gGa>gCa	p.G457A	COL9A1_ENST00000370499.4_Missense_Mutation_p.G214A|COL9A1_ENST00000320755.7_Missense_Mutation_p.G214A|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	457	Collagen-like 4.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.G214A(1)|p.G457A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCCAACTTCTCCGAGTTCTCC	0.328																																						uc003pfg.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1369-1371)GGA>GCA		alpha 1 type IX collagen isoform 1 precursor							45.0	47.0	46.0					6																	70972972		2203	4299	6502	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70972972C>G		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1370G>C	6.37:g.70972972C>G	ENSP00000349790:p.Gly457Ala					COL9A1_uc003pfe.3_Missense_Mutation_p.G30A|COL9A1_uc003pff.3_Missense_Mutation_p.G214A	p.G457A	NM_001851	NP_001842	P20849	CO9A1_HUMAN			19	1529	-			457			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1370G>C	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435184	0.62955	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99607	-6.27;-6.27;-6.27	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	H	0.98802	4.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.96642	0.9475	10	0.87932	D	0	.	17.9365	0.89013	0.0:1.0:0.0:0.0	.	457;214;30	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	A	457;214;214	ENSP00000349790:G457A;ENSP00000315252:G214A;ENSP00000359530:G214A	ENSP00000315252:G214A	G	-	2	0	COL9A1	71029693	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.377000	0.73145	2.733000	0.93635	0.650000	0.86243	GGA		PASS	0.328	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			30	7	30	7	---	---	---	---
IBTK	25998	broad.mit.edu	37	6	82909857	82909857	+	Splice_Site	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr6:82909857C>A	ENST00000306270.7	-	21	3575		c.e21+1		IBTK_ENST00000510291.1_Splice_Site|IBTK_ENST00000503631.1_Splice_Site	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase						negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.?(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TTTCCACGAACCTGTAGATGA	0.378																																						uc003pjl.1																			1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.e21+1		inhibitor of Bruton's tyrosine kinase							150.0	149.0	149.0					6																	82909857		2203	4300	6503	SO:0001630	splice_region_variant	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82909857C>A	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.3025+1G>T	6.37:g.82909857C>A						IBTK_uc011dyu.1_Splice_Site|IBTK_uc011dyv.1_Splice_Site_p.E1009_splice|IBTK_uc011dyw.1_Splice_Site_p.G808_splice|IBTK_uc010kbi.1_Splice_Site_p.G703_splice|IBTK_uc003pjm.2_Splice_Site_p.G1009_splice	p.G1009_splice	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	21	3552	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)						Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Splice_Site	SNP	ENST00000306270.7	37	c.3025_splice	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412167	0.83340	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2794	0.94046	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IBTK	82966576	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.815000	0.75242	2.549000	0.85964	0.591000	0.81541	.		PASS	0.378	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525	Intron	114	67	114	67	---	---	---	---
LTV1	84946	broad.mit.edu	37	6	144181587	144181587	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr6:144181587G>A	ENST00000367576.5	+	7	954	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	274						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E274K(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		TGATGATGATGAAATTGGAGC	0.328																																						uc003qjs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(820-822)GAA>AAA		LTV1 homolog							148.0	154.0	152.0					6																	144181587		2203	4300	6503	SO:0001583	missense	84946							g.chr6:144181587G>A	BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 93"", ""LTV1 homolog (S. cerevisiae)"""	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.820G>A	6.37:g.144181587G>A	ENSP00000356548:p.Glu274Lys					LTV1_uc003qju.1_Missense_Mutation_p.E59K|C6orf94_uc010khj.2_5'UTR	p.E274K	NM_032860	NP_116249	Q96GA3	LTV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)	7	927	+			274					Q96JX8	Missense_Mutation	SNP	ENST00000367576.5	37	c.820G>A	CCDS5201.1	.	.	.	.	.	.	.	.	.	.	G	36	5.661706	0.96734	.	.	ENSG00000135521	ENST00000367576	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.82706	0.5095	M	0.90542	3.125	0.80722	D	1	D	0.58620	0.983	P	0.62014	0.897	T	0.81895	-0.0723	9	0.44086	T	0.13	1.6449	20.8794	0.99867	0.0:0.0:1.0:0.0	.	274	Q96GA3	LTV1_HUMAN	K	274	.	ENSP00000356548:E274K	E	+	1	0	LTV1	144223280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.208000	0.95075	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.328	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1	NM_032860		109	41	109	41	---	---	---	---
FBXO30	84085	broad.mit.edu	37	6	146127417	146127417	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr6:146127417T>A	ENST00000237281.4	-	2	291	c.125A>T	c.(124-126)cAt>cTt	p.H42L		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	42							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H42L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TTTACAAGAATGGAAAACTGC	0.433																																						uc003qla.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(124-126)CAT>CTT		F-box only protein 30							152.0	138.0	142.0					6																	146127417		2203	4300	6503	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146127417T>A	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.125A>T	6.37:g.146127417T>A	ENSP00000237281:p.His42Leu					uc003qky.1_Intron	p.H42L	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	324	-		Ovarian(120;0.0776)	42					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.125A>T	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.744283	0.69418	.	.	ENSG00000118496	ENST00000237281	T	0.36699	1.24	5.76	5.76	0.90799	TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.57475	0.2056	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65397	-0.6178	10	0.87932	D	0	-20.206	16.0724	0.80943	0.0:0.0:0.0:1.0	.	42	Q8TB52	FBX30_HUMAN	L	42	ENSP00000237281:H42L	ENSP00000237281:H42L	H	-	2	0	FBXO30	146169110	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.189000	0.69895	0.528000	0.53228	CAT		PASS	0.433	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			111	31	111	31	---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165832185	165832185	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr6:165832185G>T	ENST00000366882.1	-	12	1060	c.906C>A	c.(904-906)gaC>gaA	p.D302E	PDE10A_ENST00000539869.2_Missense_Mutation_p.D312E|PDE10A_ENST00000354448.4_Missense_Mutation_p.D302E			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	302	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	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)|metal ion binding (GO:0046872)	p.D302E(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TATCAAAAAGGTCTGAATATA	0.388																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(904-906)GAC>GAA		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						112.0	102.0	106.0					6																	165832185		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165832185G>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.906C>A	6.37:g.165832185G>T	ENSP00000355847:p.Asp302Glu					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.D232E|PDE10A_uc003quo.2_Missense_Mutation_p.D312E	p.D302E	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	12	1147	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	302			GAF 2.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.906C>A		.	.	.	.	.	.	.	.	.	.	G	16.66	3.183931	0.57800	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.66815	-0.23;-0.23	5.03	4.16	0.48862	GAF (2);	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	N	0.02765	-0.5	0.50039	D	0.999841	D;B	0.63046	0.992;0.256	D;B	0.79108	0.992;0.27	T	0.50541	-0.8816	10	0.27785	T	0.31	.	6.219	0.20671	0.3273:0.0:0.6727:0.0	.	312;302	Q9ULW9;Q9Y233	.;PDE10_HUMAN	E	302;330;312;302;301	ENSP00000355847:D302E;ENSP00000346435:D302E	ENSP00000341187:D312E	D	-	3	2	PDE10A	165752175	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.730000	0.38125	1.132000	0.42129	0.561000	0.74099	GAC		PASS	0.388	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			56	22	56	22	---	---	---	---
DAGLB	221955	broad.mit.edu	37	7	6487437	6487437	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr7:6487437T>C	ENST00000297056.6	-	1	206	c.37A>G	c.(37-39)Atc>Gtc	p.I13V	DAGLB_ENST00000436575.1_Intron|DAGLB_ENST00000479922.2_5'UTR|DAGLB_ENST00000421761.2_5'UTR|DAGLB_ENST00000425398.2_Missense_Mutation_p.I13V|DAGLB_ENST00000428902.2_5'UTR|KDELR2_ENST00000463747.1_Intron	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	13					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.I13V(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCGCTGGCGATGGCCCAGCGC	0.672																																						uc003sqa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(37-39)ATC>GTC		diacylglycerol lipase, beta isoform 1							33.0	35.0	34.0					7																	6487437		2201	4300	6501	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6487437T>C	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.37A>G	7.37:g.6487437T>C	ENSP00000297056:p.Ile13Val					DAGLB_uc011jwu.1_Missense_Mutation_p.I13V|DAGLB_uc003sqb.2_5'UTR|DAGLB_uc003sqc.2_5'UTR|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Intron|DAGLB_uc011jww.1_RNA	p.I13V	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	1	207	-		Ovarian(82;0.232)	13			Cytoplasmic (Potential).		A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	c.37A>G	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.926139	0.73327	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000471132;ENST00000432248	T;T	0.38401	1.2;1.14	5.27	-5.31	0.02730	.	0.239615	0.39341	N	0.001391	T	0.18509	0.0444	L	0.46614	1.455	0.80722	D	1	B;B	0.22909	0.045;0.077	B;B	0.18871	0.02;0.023	T	0.46484	-0.9188	10	0.02654	T	1	.	6.9236	0.24401	0.4285:0.0:0.2333:0.3382	.	13;13	B4DQU0;Q8NCG7	.;DGLB_HUMAN	V	13	ENSP00000297056:I13V;ENSP00000391171:I13V	ENSP00000297056:I13V	I	-	1	0	DAGLB	6453962	1.000000	0.71417	0.684000	0.30055	0.997000	0.91878	1.855000	0.39378	-1.247000	0.02507	0.454000	0.30748	ATC		PASS	0.672	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		14	11	14	11	---	---	---	---
TMEM106B	54664	broad.mit.edu	37	7	12258089	12258089	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr7:12258089G>A	ENST00000396667.3	+	4	545	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	TMEM106B_ENST00000396668.3_Missense_Mutation_p.E75K	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	75					cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.E75K(1)		NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TTTAGGGCAAGAAAACCAACT	0.338																																						uc011jxk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)GAA>AAA		transmembrane protein 106B							97.0	95.0	96.0					7																	12258089		2203	4300	6503	SO:0001583	missense	54664					integral to membrane		g.chr7:12258089G>A	BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.223G>A	7.37:g.12258089G>A	ENSP00000379901:p.Glu75Lys					TMEM106B_uc003ssh.2_Missense_Mutation_p.E75K	p.E75K	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.185)	4	623	+			75					A4D108|Q53FL9|Q8N4L0	Missense_Mutation	SNP	ENST00000396667.3	37	c.223G>A	CCDS5358.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209917	0.95069	.	.	ENSG00000106460	ENST00000396668;ENST00000444443;ENST00000396667	T;T;T	0.24538	1.85;1.85;1.85	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.60276	-0.7295	10	0.44086	T	0.13	.	18.882	0.92358	0.0:0.0:1.0:0.0	.	75	Q9NUM4	T106B_HUMAN	K	75	ENSP00000379902:E75K;ENSP00000401302:E75K;ENSP00000379901:E75K	ENSP00000379901:E75K	E	+	1	0	TMEM106B	12224614	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.621000	0.88768	0.650000	0.86243	GAA		PASS	0.338	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246870.3	NM_018374		35	62	35	62	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21737761	21737761	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr7:21737761T>A	ENST00000409508.3	+	36	6141	c.6110T>A	c.(6109-6111)gTg>gAg	p.V2037E	DNAH11_ENST00000328843.6_Missense_Mutation_p.V2044E	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2044	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V2044E(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAGGTTTTGTGGATGCGCGT	0.413									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(6130-6132)GTG>GAG		dynein, axonemal, heavy chain 11							118.0	109.0	112.0					7																	21737761		1956	4163	6119	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21737761T>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6110T>A	7.37:g.21737761T>A	ENSP00000475939:p.Val2037Glu						p.V2044E	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			37	6162	+			2044			AAA 1 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.6131T>A		.	.	.	.	.	.	.	.	.	.	T	14.57	2.575225	0.45902	.	.	ENSG00000105877	ENST00000328843	T	0.11063	2.81	5.33	4.16	0.48862	.	0.521328	0.17611	N	0.168090	T	0.06325	0.0163	.	.	.	0.33524	D	0.592742	B	0.25169	0.119	B	0.33846	0.171	T	0.22173	-1.0224	9	0.02654	T	1	.	10.3974	0.44209	0.0:0.0802:0.0:0.9198	.	2044	Q96DT5	DYH11_HUMAN	E	2044	ENSP00000330671:V2044E	ENSP00000330671:V2044E	V	+	2	0	DNAH11	21704286	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	3.378000	0.52432	0.846000	0.35142	0.533000	0.62120	GTG		PASS	0.413	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		39	45	39	45	---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33192390	33192390	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr7:33192390C>G	ENST00000242067.6	+	3	711	c.190C>G	c.(190-192)Caa>Gaa	p.Q64E	BBS9_ENST00000354265.4_Missense_Mutation_p.Q64E|BBS9_ENST00000396127.2_Missense_Mutation_p.Q64E|BBS9_ENST00000355070.2_Missense_Mutation_p.Q64E|BBS9_ENST00000350941.3_Missense_Mutation_p.Q64E|BBS9_ENST00000482941.1_3'UTR|BBS9_ENST00000425508.2_Missense_Mutation_p.Q19E	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	64					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.Q64E(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGATGGAGCTCAAGCCGAAGA	0.383									Bardet-Biedl syndrome																													uc003tdn.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(190-192)CAA>GAA		parathyroid hormone-responsive B1 isoform 2							85.0	84.0	84.0					7																	33192390		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33192390C>G		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.190C>G	7.37:g.33192390C>G	ENSP00000242067:p.Gln64Glu					BBS9_uc003tdo.1_Missense_Mutation_p.Q64E|BBS9_uc003tdp.1_Missense_Mutation_p.Q64E|BBS9_uc003tdq.1_Missense_Mutation_p.Q64E|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.Q64E	p.Q64E	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		3	703	+			64					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.190C>G	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737951	0.49045	.	.	ENSG00000122507	ENST00000432983;ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508	D;D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.14	5.14	0.70334	.	0.250493	0.40640	N	0.001056	T	0.75925	0.3916	L	0.31294	0.92	0.41259	D	0.986764	B;B;B;B;B	0.20459	0.029;0.045;0.045;0.045;0.045	B;B;B;B;B	0.19666	0.011;0.021;0.021;0.021;0.026	T	0.69924	-0.5013	10	0.20046	T	0.44	-2.5592	18.967	0.92700	0.0:1.0:0.0:0.0	.	64;64;64;64;64	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	E	64;64;64;64;64;64;64;64;19	ENSP00000415794:Q64E;ENSP00000242067:Q64E;ENSP00000313122:Q64E;ENSP00000379433:Q64E;ENSP00000347182:Q64E;ENSP00000346214:Q64E;ENSP00000405151:Q19E	ENSP00000242067:Q64E	Q	+	1	0	BBS9	33158915	0.993000	0.37304	0.998000	0.56505	0.901000	0.52897	3.675000	0.54605	2.562000	0.86427	0.467000	0.42956	CAA		PASS	0.383	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			64	96	64	96	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43519310	43519310	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr7:43519310C>G	ENST00000395891.2	+	17	3806	c.3201C>G	c.(3199-3201)caC>caG	p.H1067Q	HECW1_ENST00000453890.1_Missense_Mutation_p.H1033Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1067					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.H1046Q(1)|p.H1067Q(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCGACAGCACCTCCAGAGGC	0.552																																						uc003tid.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(3199-3201)CAC>CAG		NEDD4-like ubiquitin-protein ligase 1							139.0	134.0	136.0					7																	43519310		1946	4148	6094	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43519310C>G	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3201C>G	7.37:g.43519310C>G	ENSP00000379228:p.His1067Gln					HECW1_uc011kbi.1_Missense_Mutation_p.H1033Q	p.H1067Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			17	3806	+			1067					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.3201C>G	CCDS5469.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.13|19.13	3.766870|3.766870	0.69878|0.69878	.|.	.|.	ENSG00000002746|ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522|ENST00000429529	D;D|.	0.84873|.	-1.91;-1.91|.	5.66|5.66	2.88|2.88	0.33553|0.33553	.|.	0.217016|.	0.47455|.	D|.	0.000221|.	T|T	0.41696|0.41696	0.1170|0.1170	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.997|.	D;P|.	0.78314|.	0.991;0.886|.	T|T	0.12243|0.12243	-1.0555|-1.0555	10|5	0.31617|.	T|.	0.26|.	.|.	10.1371|10.1371	0.42712|0.42712	0.0:0.7104:0.0:0.2896|0.0:0.7104:0.0:0.2896	.|.	1033;1067|.	B4DH42;Q76N89|.	.;HECW1_HUMAN|.	Q|S	1067;1033;1067|20	ENSP00000379228:H1067Q;ENSP00000407774:H1033Q|.	ENSP00000265522:H1067Q|.	H|T	+|+	3|2	2|0	HECW1|HECW1	43485835|43485835	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.823000|0.823000	0.46562|0.46562	0.640000|0.640000	0.24705|0.24705	0.766000|0.766000	0.33244|0.33244	0.561000|0.561000	0.74099|0.74099	CAC|ACC		PASS	0.552	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		126	180	126	180	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82579563	82579563	+	Silent	SNP	C	C	A	rs566457960		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr7:82579563C>A	ENST00000333891.9	-	6	10678	c.10341G>T	c.(10339-10341)acG>acT	p.T3447T	PCLO_ENST00000423517.2_Silent_p.T3447T|PCLO_ENST00000437081.1_Silent_p.T167T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.T3447T(4)|p.T3378T(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCGTCATCCGTTTGTACAC	0.438																																						uc003uhx.2																			6	Substitution - coding silent(6)		large_intestine(3)|lung(3)	ovary(7)	7						c.(10339-10341)ACG>ACT		piccolo isoform 1							127.0	117.0	120.0					7																	82579563		1950	4154	6104	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579563C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10341G>T	7.37:g.82579563C>A						PCLO_uc003uhv.2_Silent_p.T3447T|PCLO_uc010lec.2_Silent_p.T412T	p.T3447T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	10630	-			3378						Silent	SNP	ENST00000333891.9	37	c.10341G>T	CCDS47630.1																																																																																				PASS	0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		53	86	53	86	---	---	---	---
TECPR1	25851	broad.mit.edu	37	7	97860615	97860615	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr7:97860615G>T	ENST00000447648.2	-	14	2344	c.2045C>A	c.(2044-2046)gCc>gAc	p.A682D	TECPR1_ENST00000542604.1_Missense_Mutation_p.A612D|TECPR1_ENST00000379795.3_Missense_Mutation_p.A683D|TECPR1_ENST00000479975.1_5'Flank			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	682	PH.				autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.A682D(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGTGTACAGGGCAAAGGAGTG	0.617																																						uc003upg.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2044-2046)GCC>GAC		tectonin beta-propeller repeat containing 1							45.0	52.0	50.0					7																	97860615		2140	4226	6366	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97860615G>T		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2045C>A	7.37:g.97860615G>T	ENSP00000404923:p.Ala682Asp					TECPR1_uc003uph.1_Missense_Mutation_p.A612D	p.A682D	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN			14	2250	-			682			PH.		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.2045C>A	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459415	0.84317	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.53640	0.76;0.75;0.61	4.9	3.99	0.46301	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.115929	0.56097	D	0.000021	T	0.66086	0.2754	M	0.68952	2.095	0.52501	D	0.999956	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.69826	-0.5040	10	0.87932	D	0	-19.6057	14.1104	0.65118	0.0:0.1516:0.8484:0.0	.	612;682	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	D	682;683;612	ENSP00000404923:A682D;ENSP00000369121:A683D;ENSP00000441121:A612D	ENSP00000369121:A683D	A	-	2	0	TECPR1	97698551	1.000000	0.71417	0.999000	0.59377	0.921000	0.55340	7.902000	0.87389	1.008000	0.39264	0.462000	0.41574	GCC		PASS	0.617	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		11	21	11	21	---	---	---	---
NAT16	375607	broad.mit.edu	37	7	100815720	100815720	+	Silent	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr7:100815720C>A	ENST00000300303.2	-	4	988	c.750G>T	c.(748-750)cgG>cgT	p.R250R	NAT16_ENST00000455377.1_Silent_p.R250R	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	250							N-acetyltransferase activity (GO:0008080)	p.R250R(1)									TTTCGCTAGGCCGGTAGGGCT	0.731																																						uc003uxy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(748-750)CGG>CGT		hypothetical protein LOC375607							11.0	10.0	10.0					7																	100815720		2160	4215	6375	SO:0001819	synonymous_variant	375607						N-acetyltransferase activity	g.chr7:100815720C>A	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.750G>T	7.37:g.100815720C>A						C7orf52_uc003uxz.1_Silent_p.R250R	p.R250R	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN			4	989	-	Lung NSC(181;0.168)|all_lung(186;0.215)		250					B3KRS2|Q8NDR1	Silent	SNP	ENST00000300303.2	37	c.750G>T	CCDS5713.1																																																																																				PASS	0.731	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		6	10	6	10	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106509091	106509091	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr7:106509091G>C	ENST00000359195.3	+	2	1395	c.1085G>C	c.(1084-1086)aGg>aCg	p.R362T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R362T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R362T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	362	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R362T(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CGCAAGTTCAGGGTCAAGATC	0.562																																						uc003vdv.3																			1	Substitution - Missense(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(1084-1086)AGG>ACG		phosphoinositide-3-kinase, catalytic, gamma							115.0	104.0	108.0					7																	106509091		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509091G>C		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1085G>C	7.37:g.106509091G>C	ENSP00000352121:p.Arg362Thr					PIK3CG_uc003vdu.2_Missense_Mutation_p.R362T|PIK3CG_uc003vdw.2_Missense_Mutation_p.R362T	p.R362T	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	1170	+			362					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1085G>C	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711980	0.68730	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.72167	-0.63;-0.63;-0.63	5.73	5.73	0.89815	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.82898	0.5137	M	0.74258	2.255	0.80722	D	1	D	0.59357	0.985	P	0.62298	0.9	T	0.79918	-0.1600	10	0.31617	T	0.26	-29.8686	19.9036	0.96999	0.0:0.0:1.0:0.0	.	362	P48736	PK3CG_HUMAN	T	362	ENSP00000392258:R362T;ENSP00000419260:R362T;ENSP00000352121:R362T	ENSP00000352121:R362T	R	+	2	0	PIK3CG	106296327	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.807000	0.99171	2.706000	0.92434	0.655000	0.94253	AGG		PASS	0.562	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			71	116	71	116	---	---	---	---
SLC26A4	5172	broad.mit.edu	37	7	107353040	107353040	+	Silent	SNP	G	G	T	rs139556627		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr7:107353040G>T	ENST00000265715.3	+	20	2516	c.2292G>T	c.(2290-2292)acG>acT	p.T764T	SLC26A4_ENST00000541474.1_Silent_p.T325T|SLC26A4_ENST00000544569.1_Silent_p.T351T|SLC26A4_ENST00000543100.1_Silent_p.T333T	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	764					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.T764T(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CAGAGCTGACGGAAGAAGAAC	0.323									Pendred syndrome																													uc003vep.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(2290-2292)ACG>ACT		pendrin							130.0	129.0	130.0					7																	107353040		2203	4300	6503	SO:0001819	synonymous_variant	5172	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107353040G>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.2292G>T	7.37:g.107353040G>T						SLC26A4_uc011kmb.1_Silent_p.T351T|SLC26A4_uc011kmc.1_Silent_p.T325T|SLC26A4_uc011kmd.1_Silent_p.T333T	p.T764T	NM_000441	NP_000432	O43511	S26A4_HUMAN			20	2516	+			764			Cytoplasmic (Potential).		B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	c.2292G>T	CCDS5746.1																																																																																				PASS	0.323	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		53	76	53	76	---	---	---	---
KCND2	3751	broad.mit.edu	37	7	120386051	120386051	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr7:120386051G>C	ENST00000331113.4	+	5	2650	c.1685G>C	c.(1684-1686)aGa>aCa	p.R562T	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	562					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.R562T(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	ATTCAGATCAGATGTGTGGAG	0.453																																						uc003vjj.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1684-1686)AGA>ACA		potassium voltage-gated channel, Shal-related							108.0	86.0	93.0					7																	120386051		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120386051G>C	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1685G>C	7.37:g.120386051G>C	ENSP00000333496:p.Arg562Thr						p.R562T	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			5	2650	+	all_neural(327;0.117)		562			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.1685G>C	CCDS5776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.214175|4.214175	0.79352|0.79352	.|.	.|.	ENSG00000184408|ENSG00000184408	ENST00000425288|ENST00000331113	.|D	.|0.96913	.|-4.17	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91975|0.91975	0.7458|0.7458	N|N	0.22421|0.22421	0.69|0.69	0.39384|0.39384	D|D	0.966306|0.966306	.|B	.|0.23591	.|0.088	.|B	.|0.25759	.|0.063	D|D	0.88275|0.88275	0.2932|0.2932	5|9	.|.	.|.	.|.	.|.	13.7717|13.7717	0.63029|0.63029	0.0697:0.0:0.9303:0.0|0.0697:0.0:0.9303:0.0	.|.	.|562	.|Q9NZV8	.|KCND2_HUMAN	H|T	148|562	.|ENSP00000333496:R562T	.|.	D|R	+|+	1|2	0|0	KCND2|KCND2	120173287|120173287	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.551000|5.551000	0.67274|0.67274	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAT|AGA		PASS	0.453	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		39	64	39	64	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128486185	128486185	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr7:128486185C>T	ENST00000325888.8	+	22	4193	c.3932C>T	c.(3931-3933)aCc>aTc	p.T1311I	FLNC_ENST00000346177.6_Missense_Mutation_p.T1311I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1311					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.T1311I(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGGGACGGCACCTACCGAGTG	0.637																																						uc003vnz.3																			1	Substitution - Missense(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(3931-3933)ACC>ATC		gamma filamin isoform a							47.0	52.0	50.0					7																	128486185		2060	4179	6239	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128486185C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3932C>T	7.37:g.128486185C>T	ENSP00000327145:p.Thr1311Ile					FLNC_uc003voa.3_Missense_Mutation_p.T1311I	p.T1311I	NM_001458	NP_001449	Q14315	FLNC_HUMAN			22	4141	+			1311			Filamin 11.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.3932C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618697	0.87460	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.88046	-2.33;-2.33	5.07	5.07	0.68467	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93635	0.7967	M	0.79693	2.465	0.58432	D	0.999999	D;P	0.89917	1.0;0.931	D;P	0.91635	0.999;0.768	D	0.93371	0.6735	10	0.44086	T	0.13	.	18.4511	0.90704	0.0:1.0:0.0:0.0	.	1311;1311	Q14315-2;Q14315	.;FLNC_HUMAN	I	1311	ENSP00000327145:T1311I;ENSP00000344002:T1311I	ENSP00000327145:T1311I	T	+	2	0	FLNC	128273421	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	6.075000	0.71261	2.360000	0.80028	0.555000	0.69702	ACC		PASS	0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			35	35	35	35	---	---	---	---
LRGUK	136332	broad.mit.edu	37	7	133859319	133859319	+	Silent	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr7:133859319G>A	ENST00000285928.2	+	8	1020	c.951G>A	c.(949-951)ctG>ctA	p.L317L		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	317						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.L317L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TTGCTGAGCTGAGAGAAATAG	0.333																																						uc003vrm.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|kidney(1)	5						c.(949-951)CTG>CTA		leucine-rich repeats and guanylate kinase domain							56.0	66.0	62.0					7																	133859319		2201	4297	6498	SO:0001819	synonymous_variant	136332						ATP binding|kinase activity	g.chr7:133859319G>A	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.951G>A	7.37:g.133859319G>A							p.L317L	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			8	967	+			317			LRR 9.		Q2M3I1	Silent	SNP	ENST00000285928.2	37	c.951G>A	CCDS5830.1																																																																																				PASS	0.333	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		65	98	65	98	---	---	---	---
TRIM24	8805	broad.mit.edu	37	7	138255744	138255744	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr7:138255744C>T	ENST00000343526.4	+	11	2089	c.1874C>T	c.(1873-1875)cCg>cTg	p.P625L	TRIM24_ENST00000415680.2_Missense_Mutation_p.P591L			O15164	TIF1A_HUMAN	tripartite motif containing 24	625					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P591L(1)|p.P625L(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CCCTCTCTTCCGGATGTAAGT	0.473																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	uc003vuc.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						c.(1873-1875)CCG>CTG		transcriptional intermediary factor 1 alpha							124.0	123.0	124.0					7																	138255744		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138255744C>T	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1874C>T	7.37:g.138255744C>T	ENSP00000340507:p.Pro625Leu					TRIM24_uc003vub.2_Missense_Mutation_p.P591L	p.P625L	NM_015905	NP_056989	O15164	TIF1A_HUMAN			11	2089	+			625					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.1874C>T	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624358	0.66901	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	T;T	0.79845	-1.31;-1.24	6.08	6.08	0.98989	.	0.049132	0.85682	N	0.000000	D	0.89539	0.6744	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.986;0.999	P;D	0.70716	0.47;0.97	D	0.88671	0.3195	10	0.56958	D	0.05	-14.2755	20.2585	0.98435	0.0:1.0:0.0:0.0	.	625;591	O15164;O15164-2	TIF1A_HUMAN;.	L	625;536;591	ENSP00000340507:P625L;ENSP00000390829:P591L	ENSP00000340507:P625L	P	+	2	0	TRIM24	137906284	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.066000	0.64351	2.894000	0.99253	0.655000	0.94253	CCG		PASS	0.473	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		98	149	98	149	---	---	---	---
TAS2R40	259286	broad.mit.edu	37	7	142919923	142919923	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr7:142919923A>G	ENST00000408947.3	+	1	794	c.752A>G	c.(751-753)tAc>tGc	p.Y251C	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	251					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.Y251C(2)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					GCCACCAGCTACTTTCTCATC	0.468																																						uc011ksx.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(751-753)TAC>TGC		taste receptor, type 2, member 40							119.0	119.0	119.0					7																	142919923		1945	4142	6087	SO:0001583	missense	259286				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142919923A>G	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18885	protein-coding gene	gene with protein product		613964	"""G protein-coupled receptor 60"""	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.752A>G	7.37:g.142919923A>G	ENSP00000386210:p.Tyr251Cys						p.Y251C	NM_176882	NP_795363	P59535	T2R40_HUMAN			1	752	+	Melanoma(164;0.059)		251			Helical; Name=6; (Potential).		A4D2I2|Q645W6	Missense_Mutation	SNP	ENST00000408947.3	37	c.752A>G	CCDS43662.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.656968	0.29425	.	.	ENSG00000221937	ENST00000408947	T	0.37058	1.22	5.74	-4.3	0.03710	.	0.176133	0.36932	U	0.002326	T	0.18383	0.0441	L	0.36672	1.1	0.09310	N	1	B	0.19073	0.033	B	0.24006	0.05	T	0.08269	-1.0730	10	0.41790	T	0.15	.	0.3077	0.00283	0.218:0.2805:0.2175:0.284	.	251	P59535	T2R40_HUMAN	C	251	ENSP00000386210:Y251C	ENSP00000386210:Y251C	Y	+	2	0	TAS2R40	142630045	0.000000	0.05858	0.662000	0.29724	0.993000	0.82548	-1.448000	0.02394	-0.395000	0.07715	0.533000	0.62120	TAC		PASS	0.468	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			114	143	114	143	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147815229	147815229	+	Silent	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr7:147815229C>A	ENST00000361727.3	+	16	2919	c.2403C>A	c.(2401-2403)gcC>gcA	p.A801A		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	801	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)	p.A801A(1)		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)			GGAATGCCGCCTCTTTCCCAA	0.448										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2401-2403)GCC>GCA		cell recognition molecule Caspr2 precursor							134.0	135.0	135.0					7																	147815229		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:147815229C>A	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.2403C>A	7.37:g.147815229C>A		HNSCC(39;0.1)					p.A801A	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		16	2919	+	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)	801			Laminin G-like 3.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.2403C>A	CCDS5889.1																																																																																				PASS	0.448	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			91	108	91	108	---	---	---	---
DEFA4	1669	broad.mit.edu	37	8	6793613	6793613	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:6793613T>G	ENST00000297435.2	-	3	347	c.223A>C	c.(223-225)Aca>Cca	p.T75P		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	75					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)		p.T75P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CGAAGTTCTGTTCGCCGGCAG	0.507																																						uc003wqu.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(223-225)ACA>CCA		defensin, alpha 4 preproprotein							119.0	102.0	107.0					8																	6793613		2203	4300	6503	SO:0001583	missense	1669				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6793613T>G	X65977	CCDS5961.1	8p23.1	2007-02-20			ENSG00000164821	ENSG00000164821		"""Defensins, alpha"""	2763	protein-coding gene	gene with protein product		601157		DEF4		8469233	Standard	NM_001925		Approved	HP-4	uc003wqu.1	P12838	OTTHUMG00000090382	ENST00000297435.2:c.223A>C	8.37:g.6793613T>G	ENSP00000297435:p.Thr75Pro						p.T75P	NM_001925	NP_001916	P12838	DEF4_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	3	274	-			75					Q6EZF8	Missense_Mutation	SNP	ENST00000297435.2	37	c.223A>C	CCDS5961.1	.	.	.	.	.	.	.	.	.	.	.	4.268	0.048911	0.08243	.	.	ENSG00000164821	ENST00000297435	T	0.45276	0.9	1.54	-3.08	0.05347	Beta defensin/Neutrophil defensin (1);Mammalian defensins (2);	.	.	.	.	T	0.32315	0.0825	.	.	.	0.09310	N	1	P	0.48589	0.912	P	0.46850	0.529	T	0.16630	-1.0396	8	0.30078	T	0.28	.	4.9261	0.13894	0.0:0.4882:0.3063:0.2055	.	75	P12838	DEF4_HUMAN	P	75	ENSP00000297435:T75P	ENSP00000297435:T75P	T	-	1	0	DEFA4	6781023	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.810000	0.04505	-1.320000	0.02283	-0.624000	0.04008	ACA		PASS	0.507	DEFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206754.1	NM_001925		76	34	76	34	---	---	---	---
SPAG11B	10407	broad.mit.edu	37	8	7308655	7308655	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:7308655C>A	ENST00000297498.2	-	3	447	c.281G>T	c.(280-282)aGa>aTa	p.R94I	SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000528168.1_Missense_Mutation_p.R41I|SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000458665.1_Intron	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	94					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.R94I(1)		large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		CCTGGCCCATCTAGGCCCTAA	0.443																																						uc003wrk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(280-282)AGA>ATA		sperm associated antigen 11B isoform A							71.0	83.0	79.0					8																	7308655		2082	4193	6275	SO:0001583	missense	10407				spermatogenesis	extracellular region		g.chr8:7308655C>A	AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.281G>T	8.37:g.7308655C>A	ENSP00000297498:p.Arg94Ile					SPAG11B_uc003wrg.1_Intron|SPAG11B_uc003wrh.1_Intron|SPAG11B_uc003wri.2_Missense_Mutation_p.R41I|SPAG11B_uc003wrj.2_Intron|SPAG11B_uc003wrl.2_Intron	p.R94I	NM_016512	NP_057596	Q08648	SG11B_HUMAN		COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)	3	448	-			94					E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Missense_Mutation	SNP	ENST00000297498.2	37	c.281G>T	CCDS5966.1	.	.	.	.	.	.	.	.	.	.	C	8.048	0.765428	0.15914	.	.	ENSG00000164871	ENST00000297498;ENST00000528168	T;T	0.54675	1.13;0.56	1.82	-0.14	0.13456	.	.	.	.	.	T	0.26376	0.0644	N	0.08118	0	0.09310	N	1	B;B	0.21606	0.012;0.058	B;B	0.15052	0.003;0.012	T	0.14839	-1.0458	9	0.49607	T	0.09	.	3.0799	0.06259	0.1913:0.2986:0.5101:0.0	.	94;41	Q08648;Q08648-2	SG11B_HUMAN;.	I	94;41	ENSP00000297498:R94I;ENSP00000431230:R41I	ENSP00000297498:R94I	R	-	2	0	SPAG11B	7296065	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-1.069000	0.03444	-0.047000	0.13423	-0.595000	0.04109	AGA		PASS	0.443	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251390.2	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		30	86	30	86	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10468457	10468457	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:10468457C>T	ENST00000382483.3	-	4	3374	c.3151G>A	c.(3151-3153)Gtt>Att	p.V1051I		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1051					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.V1051I(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCTCGGAAACTCCCTCTGGA	0.692																																						uc003wtc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(3151-3153)GTT>ATT		retinitis pigmentosa 1-like 1							10.0	11.0	11.0					8																	10468457		1771	3907	5678	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10468457C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3151G>A	8.37:g.10468457C>T	ENSP00000371923:p.Val1051Ile						p.V1051I	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3380	-			1051					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.3151G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651468	0.29336	.	.	ENSG00000183638	ENST00000382483	T	0.76448	-1.02	4.6	-1.17	0.09648	.	2.579170	0.02265	N	0.067912	T	0.60869	0.2302	N	0.14661	0.345	0.09310	N	1	B	0.30824	0.296	B	0.26202	0.067	T	0.47947	-0.9077	10	0.15952	T	0.53	1.1947	9.9139	0.41423	0.0:0.4375:0.0:0.5625	.	1051	A6NKC6	.	I	1051	ENSP00000371923:V1051I	ENSP00000371923:V1051I	V	-	1	0	RP1L1	10505867	0.012000	0.17670	0.000000	0.03702	0.227000	0.25037	0.758000	0.26447	-0.494000	0.06669	0.313000	0.20887	GTT		PASS	0.692	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			27	10	27	10	---	---	---	---
MSR1	4481	broad.mit.edu	37	8	16032698	16032698	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:16032698G>T	ENST00000262101.5	-	3	336	c.215C>A	c.(214-216)gCa>gAa	p.A72E	MSR1_ENST00000445506.2_Missense_Mutation_p.A90E|MSR1_ENST00000355282.2_Missense_Mutation_p.A72E|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Missense_Mutation_p.A72E|MSR1_ENST00000350896.3_Missense_Mutation_p.A72E			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	72					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.A72E(2)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TACGTTACCTGCCACTATTCC	0.418																																						uc003wwz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(214-216)GCA>GAA		macrophage scavenger receptor 1 isoform type 1							115.0	109.0	111.0					8																	16032698		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16032698G>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.215C>A	8.37:g.16032698G>T	ENSP00000262101:p.Ala72Glu					MSR1_uc010lsu.2_Missense_Mutation_p.A90E|MSR1_uc003wxa.2_Missense_Mutation_p.A72E|MSR1_uc003wxb.2_Missense_Mutation_p.A72E|MSR1_uc011kxz.1_Intron	p.A72E	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	3	413	-			72			Helical; Signal-anchor for type II membrane protein; (Potential).		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.215C>A	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442182	0.63067	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	D;D;D;D;D	0.90844	-2.38;-2.14;-2.14;-2.38;-2.74	5.34	4.46	0.54185	Macrophage scavenger receptor (1);	0.347600	0.24978	N	0.034096	D	0.92903	0.7742	M	0.70595	2.14	0.80722	D	1	P;D;D;D	0.56746	0.933;0.977;0.977;0.961	B;P;P;P	0.55923	0.395;0.787;0.787;0.617	D	0.93209	0.6598	10	0.87932	D	0	.	12.3318	0.55043	0.0:0.1703:0.8297:0.0	.	90;72;72;72	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	E	72;72;90;72;72	ENSP00000262100:A72E;ENSP00000262101:A72E;ENSP00000405453:A90E;ENSP00000347430:A72E;ENSP00000371428:A72E	ENSP00000262101:A72E	A	-	2	0	MSR1	16077069	0.998000	0.40836	0.999000	0.59377	0.646000	0.38490	3.081000	0.50120	1.367000	0.46095	-0.181000	0.13052	GCA		PASS	0.418	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			77	44	77	44	---	---	---	---
LZTS1	11178	broad.mit.edu	37	8	20110905	20110905	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:20110905C>G	ENST00000381569.1	-	3	894	c.537G>C	c.(535-537)atG>atC	p.M179I	LZTS1_ENST00000522290.1_Missense_Mutation_p.M179I|LZTS1_ENST00000265801.6_Missense_Mutation_p.M179I			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	179					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M179I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCAGGCTGGACATGGAGTTCC	0.672																																						uc003wzr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(535-537)ATG>ATC		leucine zipper, putative tumor suppressor 1							46.0	52.0	50.0					8																	20110905		2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20110905C>G	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.537G>C	8.37:g.20110905C>G	ENSP00000370981:p.Met179Ile					LZTS1_uc010ltg.1_Missense_Mutation_p.M179I	p.M179I	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	2	648	-			179					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.537G>C	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978443	0.74360	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.23950	2.19;2.19;1.88	5.93	5.93	0.95920	.	0.111423	0.85682	N	0.000000	T	0.33498	0.0865	L	0.34521	1.04	0.58432	D	0.999999	P;P	0.52692	0.955;0.826	P;B	0.51487	0.671;0.292	T	0.00998	-1.1486	10	0.51188	T	0.08	-49.4702	18.9076	0.92469	0.0:1.0:0.0:0.0	.	179;179	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	I	179	ENSP00000370981:M179I;ENSP00000265801:M179I;ENSP00000429263:M179I	ENSP00000265801:M179I	M	-	3	0	LZTS1	20155185	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.248000	0.51430	2.815000	0.96918	0.561000	0.74099	ATG		PASS	0.672	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		16	62	16	62	---	---	---	---
HR	55806	broad.mit.edu	37	8	21984877	21984877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:21984877C>A	ENST00000381418.4	-	3	2558	c.1078G>T	c.(1078-1080)Gag>Tag	p.E360*	HR_ENST00000312841.8_Nonsense_Mutation_p.E360*	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	360					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E360*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TTCACTTCCTCGCTGGGTTCG	0.627																																						uc003xas.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1078-1080)GAG>TAG		hairless protein isoform a							81.0	91.0	87.0					8																	21984877		2203	4300	6503	SO:0001587	stop_gained	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21984877C>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1078G>T	8.37:g.21984877C>A	ENSP00000370826:p.Glu360*					HR_uc003xat.2_Nonsense_Mutation_p.E360*	p.E360*	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	3	1743	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	360					Q6GS30|Q96H33|Q9NPE1	Nonsense_Mutation	SNP	ENST00000381418.4	37	c.1078G>T	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	47	13.564669	0.99750	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	.	.	.	6.04	6.04	0.98038	.	0.102135	0.42964	D	0.000623	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-14.5828	16.0949	0.81114	0.0:1.0:0.0:0.0	.	.	.	.	X	360	.	ENSP00000326765:E360X	E	-	1	0	HR	22040822	0.979000	0.34478	0.448000	0.26945	0.074000	0.17049	3.096000	0.50243	2.873000	0.98535	0.563000	0.77884	GAG		PASS	0.627	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			6	259	6	259	---	---	---	---
KCTD9	54793	broad.mit.edu	37	8	25315739	25315739	+	Silent	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:25315739C>T	ENST00000221200.4	-	1	244	c.24G>A	c.(22-24)ctG>ctA	p.L8L	CDCA2_ENST00000330560.3_5'Flank|KCTD9_ENST00000518067.1_5'UTR|CDCA2_ENST00000380665.3_5'Flank	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	8	KHA. {ECO:0000255|PROSITE- ProRule:PRU00823}.				protein homooligomerization (GO:0051260)			p.L8L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		GGCTGCCGTTCAGGAACAGGG	0.736																																						uc003xeo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(22-24)CTG>CTA		potassium channel tetramerisation domain							17.0	20.0	19.0					8																	25315739		2183	4240	6423	SO:0001819	synonymous_variant	54793					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:25315739C>T	BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"""BTB/POZ domain containing"""	22401	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 9"""			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.24G>A	8.37:g.25315739C>T						PPP2R2A_uc003xek.2_Intron|CDCA2_uc003xep.1_5'Flank|CDCA2_uc011lae.1_5'Flank|CDCA2_uc003xeq.1_5'Flank	p.L8L	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	1	182	-		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	8			KHA.		Q6NUM8|Q9NXV4	Silent	SNP	ENST00000221200.4	37	c.24G>A	CCDS6048.1																																																																																				PASS	0.736	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634		6	31	6	31	---	---	---	---
GSR	2936	broad.mit.edu	37	8	30539537	30539537	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:30539537C>G	ENST00000221130.5	-	11	1285	c.1195G>C	c.(1195-1197)Gaa>Caa	p.E399Q	GSR_ENST00000541648.1_Missense_Mutation_p.E346Q|GSR_ENST00000414019.1_Missense_Mutation_p.E356Q|GSR_ENST00000546342.1_Missense_Mutation_p.E370Q|GSR_ENST00000537535.1_Missense_Mutation_p.E317Q	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	399					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)	p.E399*(1)|p.E399Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	TCCTTATATTCAAAAAGTCGA	0.388																																						uc003xih.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1195-1197)GAA>CAA		glutathione reductase precursor	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)						104.0	112.0	109.0					8																	30539537		2203	4300	6503	SO:0001583	missense	2936				cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30539537C>G		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.1195G>C	8.37:g.30539537C>G	ENSP00000221130:p.Glu399Gln						p.E399Q	NM_000637	NP_000628	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	11	1286	-			399					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	37	c.1195G>C	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785994	0.90282	.	.	ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535	T;T;T;D;T	0.82984	1.68;1.68;-0.31;-1.67;-0.68	5.56	5.56	0.83823	.	0.102934	0.64402	D	0.000004	D	0.84566	0.5500	L	0.55103	1.725	0.58432	D	0.999997	P	0.52170	0.951	P	0.48921	0.595	D	0.86300	0.1679	10	0.72032	D	0.01	-15.8569	17.0923	0.86625	0.0:1.0:0.0:0.0	.	399	P00390	GSHR_HUMAN	Q	399;356;370;346;317	ENSP00000221130:E399Q;ENSP00000390065:E356Q;ENSP00000445516:E370Q;ENSP00000444559:E346Q;ENSP00000438845:E317Q	ENSP00000221130:E399Q	E	-	1	0	GSR	30659079	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	6.924000	0.75823	2.622000	0.88805	0.644000	0.83932	GAA		PASS	0.388	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1			127	79	127	79	---	---	---	---
ADAM32	203102	broad.mit.edu	37	8	39018484	39018484	+	Splice_Site	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:39018484G>A	ENST00000379907.4	+	7	721	c.594G>A	c.(592-594)ttG>ttA	p.L198L	ADAM32_ENST00000519315.1_Splice_Site_p.L198L|ADAM32_ENST00000437682.2_Splice_Site_p.L205L	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	198	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L198L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ACAAAACTTTGGTATGTGTTT	0.323																																						uc003xmt.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|kidney(1)	3						c.(592-594)TTG>TTA		a disintegrin and metalloprotease domain 32							157.0	133.0	140.0					8																	39018484		1829	4079	5908	SO:0001630	splice_region_variant	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39018484G>A	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.594+1G>A	8.37:g.39018484G>A						ADAM32_uc011lch.1_Silent_p.L205L|ADAM32_uc003xmu.3_Silent_p.L198L	p.L198L	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		7	839	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	198			Peptidase M12B.|Extracellular (Potential).		Q8TC42	Silent	SNP	ENST00000379907.4	37	c.594G>A	CCDS47846.1																																																																																				PASS	0.323	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004	Silent	6	26	6	26	---	---	---	---
PLAG1	5324	broad.mit.edu	37	8	57079300	57079300	+	Silent	SNP	C	C	T	rs150353769	byFrequency	TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:57079300C>T	ENST00000316981.3	-	5	1484	c.1005G>A	c.(1003-1005)ccG>ccA	p.P335P	PLAG1_ENST00000423799.2_Silent_p.P253P|PLAG1_ENST00000429357.2_Silent_p.P335P	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	335	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P335P(2)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TAGAACTGAACGGATATTTGA	0.428			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								C|||	3	0.000599042	0.0008	0.0029	5008	,	,		21100	0.0		0.0	False		,,,				2504	0.0					uc003xsq.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	TCEA1|LIFR|CTNNB1|CHCHD7		salivary adenoma	CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	2	Substitution - coding silent(2)		lung(2)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129						c.(1003-1005)CCG>CCA		pleiomorphic adenoma gene 1 isoform b		C	,,	0,4406		0,0,2203	131.0	133.0	132.0		1005,759,1005	-3.0	1.0	8	dbSNP_134	132	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	PLAG1	NM_001114634.1,NM_001114635.1,NM_002655.2	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	335/501,253/419,335/501	57079300	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079300C>T	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1005G>A	8.37:g.57079300C>T						PLAG1_uc003xsr.3_Silent_p.P335P|PLAG1_uc010lyi.2_Silent_p.P335P|PLAG1_uc010lyj.2_Silent_p.P253P	p.P335P	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		3	1456	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	335			Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.		B4DLC2|Q59GH8|Q9Y4L2	Silent	SNP	ENST00000316981.3	37	c.1005G>A	CCDS6165.1																																																																																				PASS	0.428	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		132	93	132	93	---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67579132	67579132	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:67579132G>A	ENST00000310421.4	-	1	320	c.62C>T	c.(61-63)cCa>cTa	p.P21L	C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	21	Pro-rich.				endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.P21L(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CGGAGTCTGTGGAGCCTCAGG	0.692																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(61-63)CCA>CTA		valosin containing protein (p97)/p47 complex							8.0	12.0	10.0					8																	67579132		2094	4144	6238	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67579132G>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.62C>T	8.37:g.67579132G>A	ENSP00000309031:p.Pro21Leu					SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	p.P21L	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	321	-		Lung NSC(129;0.142)|all_lung(136;0.227)	21			Pro-rich.		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.62C>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083225	0.76642	.	.	ENSG00000175073	ENST00000310421	T	0.29397	1.57	5.5	5.5	0.81552	.	0.214716	0.39407	N	0.001368	T	0.27384	0.0672	L	0.46157	1.445	0.58432	D	0.999996	P	0.37781	0.608	B	0.29077	0.098	T	0.08932	-1.0698	10	0.72032	D	0.01	-8.8575	16.2625	0.82553	0.0:0.0:1.0:0.0	.	21	Q96JH7	VCIP1_HUMAN	L	21	ENSP00000309031:P21L	ENSP00000309031:P21L	P	-	2	0	VCPIP1	67741686	0.470000	0.25854	1.000000	0.80357	0.987000	0.75469	0.916000	0.28651	2.861000	0.98227	0.655000	0.94253	CCA		PASS	0.692	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			5	5	5	5	---	---	---	---
JPH1	56704	broad.mit.edu	37	8	75227315	75227315	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:75227315T>C	ENST00000342232.4	-	2	960	c.920A>G	c.(919-921)gAg>gGg	p.E307G		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	307					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.E307G(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ATTTGCCCACTCCCCTTCATA	0.512																																						uc003yae.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(919-921)GAG>GGG		junctophilin 1							133.0	130.0	131.0					8																	75227315		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227315T>C	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.920A>G	8.37:g.75227315T>C	ENSP00000344488:p.Glu307Gly					JPH1_uc003yaf.2_Missense_Mutation_p.E307G|JPH1_uc003yag.1_Missense_Mutation_p.E171G	p.E307G	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	960	-	Breast(64;0.00576)		307			Cytoplasmic (Potential).|MORN 7.		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.920A>G	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.704086	0.88924	.	.	ENSG00000104369	ENST00000342232	T	0.61859	0.07	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.67496	0.2899	L	0.37850	1.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68232	-0.5463	10	0.48119	T	0.1	.	15.4218	0.75018	0.0:0.0:0.0:1.0	.	307	Q9HDC5	JPH1_HUMAN	G	307	ENSP00000344488:E307G	ENSP00000344488:E307G	E	-	2	0	JPH1	75389870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.812000	0.86109	2.219000	0.72066	0.533000	0.62120	GAG		PASS	0.512	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			173	104	173	104	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77617186	77617186	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:77617186G>T	ENST00000521891.2	+	2	1311	c.863G>T	c.(862-864)gGt>gTt	p.G288V	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G288V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G288V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G288V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G288V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGTCTTTTGGTTATATCAGG	0.433										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(862-864)GGT>GTT		zinc finger homeodomain 4							251.0	239.0	243.0					8																	77617186		2008	4211	6219	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617186G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.863G>T	8.37:g.77617186G>T	ENSP00000430497:p.Gly288Val	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.G288V|ZFHX4_uc003yau.1_Missense_Mutation_p.G288V|ZFHX4_uc003yaw.1_Missense_Mutation_p.G288V	p.G288V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1250	+			288					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.863G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259525	0.39995	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.86497	-2.13;-2.06;-2.09;-2.12	5.53	5.53	0.82687	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.45361	U	0.000367	D	0.94006	0.8080	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.94057	0.7323	10	0.87932	D	0	.	19.6556	0.95837	0.0:0.0:1.0:0.0	.	288;288;288;288	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	V	288	ENSP00000430497:G288V;ENSP00000399605:G288V;ENSP00000050961:G288V;ENSP00000430848:G288V	ENSP00000050961:G288V	G	+	2	0	ZFHX4	77779741	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.263000	0.95617	2.882000	0.98803	0.655000	0.94253	GGT		PASS	0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		70	66	70	66	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87755792	87755792	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:87755792G>T	ENST00000320005.5	-	1	111	c.64C>A	c.(64-66)Caa>Aaa	p.Q22K	RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	22					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.Q22K(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CGAGAACTTTGTTCATTCTCA	0.418																																						uc003ydx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(64-66)CAA>AAA		cyclic nucleotide gated channel beta 3							322.0	269.0	287.0					8																	87755792		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87755792G>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.64C>A	8.37:g.87755792G>T	ENSP00000316605:p.Gln22Lys						p.Q22K	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			1	110	-			22			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.64C>A	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660714	0.29515	.	.	ENSG00000170289	ENST00000320005	T	0.29142	1.58	5.78	1.84	0.25277	.	.	.	.	.	T	0.26484	0.0647	L	0.36672	1.1	0.09310	N	1	B	0.22003	0.063	B	0.19666	0.026	T	0.16453	-1.0402	9	0.20046	T	0.44	.	17.4146	0.87496	0.0:0.4676:0.5324:0.0	.	22	Q9NQW8	CNGB3_HUMAN	K	22	ENSP00000316605:Q22K	ENSP00000316605:Q22K	Q	-	1	0	CNGB3	87824908	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	-0.130000	0.10498	0.055000	0.16094	0.650000	0.86243	CAA		PASS	0.418	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		118	71	118	71	---	---	---	---
OTUD6B	51633	broad.mit.edu	37	8	92082567	92082567	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:92082567C>G	ENST00000285420.4	+	1	144	c.45C>G	c.(43-45)agC>agG	p.S15R	OTUD6B_ENST00000404789.3_5'UTR|GS1-251I9.4_ENST00000524003.1_RNA|GS1-251I9.4_ENST00000522817.1_RNA	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	0							cysteine-type peptidase activity (GO:0008234)	p.S15R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			TGCCTACTAGCCGGTGCAGGT	0.617																																						uc003yeu.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(43-45)AGC>AGG		OTU domain containing 6B							97.0	110.0	106.0					8																	92082567		2203	4300	6503	SO:0001583	missense	51633							g.chr8:92082567C>G		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"""OTU domain containing"""	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.45C>G	8.37:g.92082567C>G	ENSP00000285420:p.Ser15Arg					uc003yet.2_5'Flank|OTUD6B_uc011lgh.1_5'UTR	p.S15R	NM_016023	NP_057107	Q8N6M0	OTU6B_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0187)		1	144	+			Error:Variant_position_missing_in_Q8N6M0_after_alignment					A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Missense_Mutation	SNP	ENST00000285420.4	37	c.45C>G	CCDS6253.2	.	.	.	.	.	.	.	.	.	.	C	4.785	0.145983	0.09134	.	.	ENSG00000155100	ENST00000285420	T	0.44482	0.92	5.65	-3.35	0.04928	.	.	.	.	.	T	0.17365	0.0417	N	0.08118	0	0.20196	N	0.999927	.	.	.	.	.	.	T	0.18713	-1.0328	7	0.35671	T	0.21	26.1547	2.4075	0.04416	0.1148:0.2118:0.386:0.2874	.	.	.	.	R	15	ENSP00000285420:S15R	ENSP00000285420:S15R	S	+	3	2	OTUD6B	92151743	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.132000	0.03235	-0.390000	0.07774	0.655000	0.94253	AGC		PASS	0.617	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		5	19	5	19	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110439382	110439382	+	Silent	SNP	A	A	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:110439382A>T	ENST00000378402.5	+	25	3101	c.2997A>T	c.(2995-2997)ctA>ctT	p.L999L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	999					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L1001L(3)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGAATCTTCTACAGGTTCCCT	0.458										HNSCC(38;0.096)																												uc003yne.2																			3	Substitution - coding silent(3)		lung(3)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(2995-2997)CTA>CTT		fibrocystin L precursor							37.0	40.0	39.0					8																	110439382		1858	4102	5960	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110439382A>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2997A>T	8.37:g.110439382A>T		HNSCC(38;0.096)					p.L999L	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		25	3101	+			999			Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.2997A>T	CCDS47911.1																																																																																				PASS	0.458	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		30	24	30	24	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110535548	110535548	+	Silent	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:110535548T>C	ENST00000378402.5	+	76	12521	c.12417T>C	c.(12415-12417)agT>agC	p.S4139S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4139					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S4143S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGGCCTTAGTGGAAATACAA	0.403										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(12415-12417)AGT>AGC		fibrocystin L precursor							124.0	117.0	119.0					8																	110535548		1895	4120	6015	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110535548T>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.12417T>C	8.37:g.110535548T>C		HNSCC(38;0.096)					p.S4139S	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		76	12521	+			4139			Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.12417T>C	CCDS47911.1																																																																																				PASS	0.403	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		39	120	39	120	---	---	---	---
ZHX2	22882	broad.mit.edu	37	8	123964728	123964728	+	Silent	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:123964728G>A	ENST00000314393.4	+	3	1813	c.978G>A	c.(976-978)gtG>gtA	p.V326V		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	326	Required for homodimerization.|Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.V326V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CAGAAGAGGTGGAGGAGGCCC	0.602																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	uc003ypk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(976-978)GTG>GTA		zinc fingers and homeoboxes 2							96.0	84.0	88.0					8																	123964728		2203	4300	6503	SO:0001819	synonymous_variant	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123964728G>A	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.978G>A	8.37:g.123964728G>A							p.V326V	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1545	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		326			Required for interaction with NFYA.|Required for homodimerization.|Required for repressor activity.|Required for nuclear localization.			Silent	SNP	ENST00000314393.4	37	c.978G>A	CCDS6336.1																																																																																				PASS	0.602	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		35	125	35	125	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	124987425	124987425	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:124987425G>A	ENST00000522917.1	+	8	768	c.562G>A	c.(562-564)Gac>Aac	p.D188N	FER1L6_ENST00000399018.1_Missense_Mutation_p.D188N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	188						integral component of membrane (GO:0016021)		p.D188N(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCTGCTCACAGACCCTGGTGA	0.532																																						uc003yqw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(562-564)GAC>AAC		fer-1-like 6							102.0	99.0	100.0					8																	124987425		1986	4167	6153	SO:0001583	missense	654463					integral to membrane		g.chr8:124987425G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.562G>A	8.37:g.124987425G>A	ENSP00000428280:p.Asp188Asn						p.D188N	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		8	768	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		188			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.562G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495452	0.64186	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82803	-1.65;-1.65	5.46	5.46	0.80206	C2 calcium/lipid-binding domain, CaLB (1);FerIin domain (1);	0.328999	0.26746	U	0.022713	D	0.83755	0.5323	M	0.65498	2.005	0.44562	D	0.997524	B	0.22211	0.066	B	0.25405	0.06	T	0.80216	-0.1474	10	0.52906	T	0.07	.	19.7373	0.96212	0.0:0.0:1.0:0.0	.	188	Q2WGJ9	FR1L6_HUMAN	N	188	ENSP00000428280:D188N;ENSP00000381982:D188N	ENSP00000381982:D188N	D	+	1	0	FER1L6	125056606	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.565000	0.67365	2.753000	0.94483	0.555000	0.69702	GAC		PASS	0.532	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		42	121	42	121	---	---	---	---
PHF20L1	51105	broad.mit.edu	37	8	133790097	133790097	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:133790097G>T	ENST00000395386.2	+	2	322	c.23G>T	c.(22-24)cGc>cTc	p.R8L	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Missense_Mutation_p.R8L|PHF20L1_ENST00000395376.1_Missense_Mutation_p.R8L|PHF20L1_ENST00000395379.1_Missense_Mutation_p.R8L|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R8L	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	8							zinc ion binding (GO:0008270)	p.R8L(3)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CCCCCAAATCGCCCTGGAATC	0.363																																						uc003ytt.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(22-24)CGC>CTC		PHD finger protein 20-like 1 isoform 1							121.0	126.0	124.0					8																	133790097		2203	4300	6503	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133790097G>T	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.23G>T	8.37:g.133790097G>T	ENSP00000378784:p.Arg8Leu					PHF20L1_uc003ytr.2_Missense_Mutation_p.R8L|PHF20L1_uc010mdv.2_Missense_Mutation_p.R8L|PHF20L1_uc003yts.2_Missense_Mutation_p.R8L|PHF20L1_uc011lja.1_Missense_Mutation_p.R8L|PHF20L1_uc003ytu.1_RNA|PHF20L1_uc003ytq.2_Missense_Mutation_p.R8L	p.R8L	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		2	348	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		8					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.23G>T	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	32	5.188840	0.94923	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395390	T;T;T;T;T;T;T;T	0.55760	0.6;0.56;0.5;1.18;0.51;0.5;0.64;1.13	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	M	0.73598	2.24	0.80722	D	1	D;D;D;P;P	0.67145	0.996;0.992;0.99;0.675;0.895	D;P;P;B;P	0.79108	0.992;0.862;0.827;0.285;0.586	T	0.75912	-0.3150	10	0.87932	D	0	-0.0774	18.4154	0.90568	0.0:0.0:1.0:0.0	.	8;8;8;8;8	F8W9L8;A8MW92;A8MW92-4;A8MW92-2;A8MUE8	.;P20L1_HUMAN;.;.;.	L	8	ENSP00000378781:R8L;ENSP00000378777:R8L;ENSP00000355301:R8L;ENSP00000378784:R8L;ENSP00000324519:R8L;ENSP00000338269:R8L;ENSP00000378775:R8L;ENSP00000378788:R8L	ENSP00000324519:R8L	R	+	2	0	PHF20L1	133859279	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.284000	0.78650	2.685000	0.91497	0.585000	0.79938	CGC		PASS	0.363	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		97	62	97	62	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139163804	139163804	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:139163804C>A	ENST00000395297.1	-	13	3084	c.2914G>T	c.(2914-2916)Gtg>Ttg	p.V972L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	972								p.V972L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAGGCATTCACTCCTCTATTA	0.498										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(2914-2916)GTG>TTG		hypothetical protein LOC51059							137.0	110.0	119.0					8																	139163804		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139163804C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2914G>T	8.37:g.139163804C>A	ENSP00000378710:p.Val972Leu	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.V873L|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.V534L|FAM135B_uc003yvb.2_Missense_Mutation_p.V534L	p.V972L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	3085	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		972					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2914G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	5.873	0.345316	0.11126	.	.	ENSG00000147724	ENST00000395297	T	0.13657	2.57	5.24	-0.645	0.11475	.	1.308140	0.04971	N	0.463917	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.37056	-0.9722	10	0.15066	T	0.55	0.0041	2.3124	0.04190	0.2044:0.3029:0.3386:0.1541	.	972;972;972	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	L	972	ENSP00000378710:V972L	ENSP00000276737:V972L	V	-	1	0	FAM135B	139232986	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.022000	0.13511	-0.029000	0.13827	0.655000	0.94253	GTG		PASS	0.498	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		32	134	32	134	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164776	139164776	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:139164776G>T	ENST00000395297.1	-	13	2112	c.1942C>A	c.(1942-1944)Ctg>Atg	p.L648M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	648								p.L648M(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCTCCCTCAGGGTAGAACTT	0.483										HNSCC(54;0.14)																												uc003yuy.2																			4	Substitution - Missense(4)		lung(4)	ovary(7)|skin(2)	9						c.(1942-1944)CTG>ATG		hypothetical protein LOC51059							87.0	87.0	87.0					8																	139164776		1876	4117	5993	SO:0001583	missense	51059							g.chr8:139164776G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1942C>A	8.37:g.139164776G>T	ENSP00000378710:p.Leu648Met	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.L549M|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L210M|FAM135B_uc003yvb.2_Missense_Mutation_p.L210M	p.L648M	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2113	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		648					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1942C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535032	0.27475	.	.	ENSG00000147724	ENST00000395297	T	0.15952	2.38	4.92	-1.84	0.07809	.	0.724952	0.11990	N	0.509886	T	0.30510	0.0767	M	0.63428	1.95	0.09310	N	1	D;D;D	0.61697	0.99;0.982;0.971	D;P;P	0.63192	0.912;0.875;0.641	T	0.13361	-1.0512	10	0.45353	T	0.12	-0.7374	9.1795	0.37131	0.3441:0.1005:0.5554:0.0	.	648;648;648	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	M	648	ENSP00000378710:L648M	ENSP00000276737:L648M	L	-	1	2	FAM135B	139233958	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	-0.027000	0.12371	-1.015000	0.03375	-2.057000	0.00402	CTG		PASS	0.483	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		111	70	111	70	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139323149	139323149	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:139323149C>A	ENST00000395297.1	-	3	262	c.92G>T	c.(91-93)cGa>cTa	p.R31L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	31								p.R31L(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAAGGTCACTCGGATCTGGTA	0.493										HNSCC(54;0.14)																												uc003yuy.2																			4	Substitution - Missense(4)		lung(4)	ovary(7)|skin(2)	9						c.(91-93)CGA>CTA		hypothetical protein LOC51059							77.0	73.0	74.0					8																	139323149		1934	4134	6068	SO:0001583	missense	51059							g.chr8:139323149C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.92G>T	8.37:g.139323149C>A	ENSP00000378710:p.Arg31Leu	HNSCC(54;0.14)				FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	p.R31L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		3	263	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		31					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.92G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888631	0.72524	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.25085	1.82	5.01	3.2	0.36748	.	0.000000	0.49305	U	0.000148	T	0.31040	0.0784	M	0.83118	2.625	0.36514	D	0.869796	B	0.28636	0.218	B	0.29716	0.106	T	0.35051	-0.9804	10	0.87932	D	0	-1.6017	7.5199	0.27622	0.0:0.8058:0.0:0.1942	.	31	Q49AJ0	F135B_HUMAN	L	31	ENSP00000378710:R31L	ENSP00000160713:R31L	R	-	2	0	FAM135B	139392331	0.923000	0.31300	0.993000	0.49108	0.998000	0.95712	0.980000	0.29513	0.817000	0.34445	0.591000	0.81541	CGA		PASS	0.493	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		77	59	77	59	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139737671	139737671	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:139737671G>T	ENST00000303045.6	-	24	2598	c.2152C>A	c.(2152-2154)Ccc>Acc	p.P718T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P718T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	718	Collagen-like 5.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P718T(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACACCAGGGGGTCCTGGAGGG	0.582										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(2152-2154)CCC>ACC		collagen, type XXII, alpha 1							51.0	58.0	56.0					8																	139737671		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139737671G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2152C>A	8.37:g.139737671G>T	ENSP00000303153:p.Pro718Thr	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.P18T	p.P718T	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		24	2599	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		718			Collagen-like 5.|Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.2152C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981178	0.34942	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.98666	-5.06;-5.06	4.94	4.07	0.47477	.	0.269718	0.26052	N	0.026635	D	0.97312	0.9121	M	0.79926	2.475	0.43330	D	0.995368	B;B	0.33612	0.419;0.166	B;B	0.34093	0.168;0.175	D	0.96151	0.9108	10	0.18710	T	0.47	.	10.1834	0.42982	0.0944:0.0:0.9056:0.0	.	718;718	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	T	718;718;431	ENSP00000303153:P718T;ENSP00000387655:P718T	ENSP00000303153:P718T	P	-	1	0	COL22A1	139806853	0.980000	0.34600	0.977000	0.42913	0.853000	0.48598	0.923000	0.28757	1.399000	0.46721	-0.126000	0.14955	CCC		PASS	0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		147	72	147	72	---	---	---	---
MROH5	389690	broad.mit.edu	37	8	142500317	142500317	+	RNA	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:142500317G>A	ENST00000430863.1	-	0	677					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5									p.H199H(1)									CCCGCCACGAGTGCCTGCAGA	0.647																																						uc003ywi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(595-597)CAC>CAT		hypothetical protein LOC389690							28.0	35.0	32.0					8																	142500317		2056	4192	6248			389690						binding	g.chr8:142500317G>A			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142500317G>A						FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	p.H199H	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		5	678	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		199						Silent	SNP	ENST00000430863.1	37	c.597C>T																																																																																					PASS	0.647	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		20	8	20	8	---	---	---	---
ZNF250	58500	broad.mit.edu	37	8	146108175	146108175	+	Silent	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:146108175C>T	ENST00000292579.7	-	6	524	c.408G>A	c.(406-408)aaG>aaA	p.K136K	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Silent_p.K131K|ZNF250_ENST00000342660.6_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K136K(1)		endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		AAATTAATGGCTTCGGACTCA	0.383																																					NSCLC(16;520 556 24096 40084 43446)	uc003zeq.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(406-408)AAG>AAA		zinc finger protein 250 isoform a							163.0	169.0	167.0					8																	146108175		2203	4300	6503	SO:0001819	synonymous_variant	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146108175C>T	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.408G>A	8.37:g.146108175C>T						COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Silent_p.K131K|ZNF250_uc010mgg.2_Silent_p.K131K	p.K136K	NM_021061	NP_066405	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	525	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		136					D3DWP1|Q59HE9|Q8N942|Q96AH9	Silent	SNP	ENST00000292579.7	37	c.408G>A	CCDS34972.1																																																																																				PASS	0.383	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		62	271	62	271	---	---	---	---
ZCCHC7	84186	broad.mit.edu	37	9	37126821	37126821	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr9:37126821G>C	ENST00000336755.5	+	2	598	c.492G>C	c.(490-492)gaG>gaC	p.E164D	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.E163D|ZCCHC7_ENST00000534928.1_Intron	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	164						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E164D(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		AAGAGGAAGAGAGCACCATTT	0.413																																						uc003zzq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(490-492)GAG>GAC		zinc finger, CCHC domain containing 7							159.0	151.0	154.0					9																	37126821		2203	4300	6503	SO:0001583	missense	84186						nucleic acid binding|zinc ion binding	g.chr9:37126821G>C	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.492G>C	9.37:g.37126821G>C	ENSP00000337839:p.Glu164Asp					ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Missense_Mutation_p.E163D|ZCCHC7_uc010mlt.2_Missense_Mutation_p.E163D|ZCCHC7_uc003zzs.1_Missense_Mutation_p.E163D	p.E164D	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	2	665	+			164					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Missense_Mutation	SNP	ENST00000336755.5	37	c.492G>C	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491588	0.26774	.	.	ENSG00000147905	ENST00000336755;ENST00000322831	T;T	0.48522	1.38;0.81	5.4	3.41	0.39046	.	0.324544	0.28589	N	0.014812	T	0.31796	0.0808	L	0.39633	1.23	0.80722	D	1	B;B	0.19583	0.037;0.012	B;B	0.16722	0.016;0.007	T	0.17018	-1.0383	10	0.37606	T	0.19	-13.9473	1.7043	0.02878	0.2025:0.1795:0.4691:0.1489	.	164;164	Q8N3Z6-2;Q8N3Z6	.;ZCHC7_HUMAN	D	164;163	ENSP00000337839:E164D;ENSP00000316365:E163D	ENSP00000316365:E163D	E	+	3	2	ZCCHC7	37116821	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.647000	0.24812	0.601000	0.29879	0.573000	0.79308	GAG		PASS	0.413	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		128	43	128	43	---	---	---	---
NMRK1	54981	broad.mit.edu	37	9	77684836	77684836	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr9:77684836C>T	ENST00000361092.4	-	5	528	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	NMRK1_ENST00000482537.1_5'Flank|NMRK1_ENST00000376808.4_Missense_Mutation_p.E98K|NMRK1_ENST00000376811.1_Missense_Mutation_p.E102K	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	98					NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)	p.E98K(1)									AGAAAACCTTCGATGATTAAA	0.393																																						uc004aju.2																			1	Substitution - Missense(1)		lung(1)		0						c.(292-294)GAA>AAA		nicotinamide riboside kinase 1 isoform 1							88.0	91.0	90.0					9																	77684836		2203	4300	6503	SO:0001583	missense	54981				pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity	g.chr9:77684836C>T	AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"""chromosome 9 open reading frame 95"""	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.292G>A	9.37:g.77684836C>T	ENSP00000354387:p.Glu98Lys					C9orf95_uc004ajs.3_Missense_Mutation_p.E102K|C9orf95_uc004ajr.3_Missense_Mutation_p.E98K|C9orf95_uc004ajt.3_Missense_Mutation_p.E98K	p.E98K	NM_017881	NP_060351	Q9NWW6	NRK1_HUMAN			5	890	-			98	E->A: Loss of activity.				Q5W124|Q8N430	Missense_Mutation	SNP	ENST00000361092.4	37	c.292G>A	CCDS6650.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929826	0.92389	.	.	ENSG00000106733	ENST00000376811;ENST00000376794;ENST00000361092;ENST00000376808	T;T;T	0.57595	0.39;0.39;0.52	5.86	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.78566	0.4303	M	0.92784	3.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.84325	0.0518	10	0.87932	D	0	-27.124	14.5081	0.67767	0.0:0.9293:0.0:0.0707	.	98;102;98	Q9NWW6-2;Q5W125;Q9NWW6	.;.;NRK1_HUMAN	K	102;102;98;98	ENSP00000366007:E102K;ENSP00000354387:E98K;ENSP00000366004:E98K	ENSP00000354387:E98K	E	-	1	0	C9orf95	76874656	1.000000	0.71417	0.950000	0.38849	0.922000	0.55478	7.212000	0.77941	1.492000	0.48499	0.591000	0.81541	GAA		PASS	0.393	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052705.1	NM_017881		72	108	72	108	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84603768	84603768	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr9:84603768C>A	ENST00000344803.2	+	1	82	c.35C>A	c.(34-36)aCt>aAt	p.T12N		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	12					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.T12N(2)									AACAGCTATACTGAGACAGGG	0.483																																						uc004amn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(34-36)ACT>AAT		hypothetical protein LOC389763							180.0	156.0	163.0					9																	84603768		1860	4105	5965	SO:0001583	missense	389763					integral to membrane		g.chr9:84603768C>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.35C>A	9.37:g.84603768C>A	ENSP00000341988:p.Thr12Asn						p.T12N	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			1	82	+			12						Missense_Mutation	SNP	ENST00000344803.2	37	c.35C>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	7.453	0.643022	0.14451	.	.	ENSG00000214929	ENST00000344803	T	0.05580	3.42	2.89	-1.97	0.07503	.	3.527920	0.00744	N	0.001034	T	0.11452	0.0279	L	0.39898	1.24	0.09310	N	1	D	0.57899	0.981	P	0.54140	0.743	T	0.26258	-1.0108	10	0.39692	T	0.17	7.8708	6.8651	0.24088	0.0:0.3776:0.0:0.6224	.	12	Q6ZQQ2	F75D1_HUMAN	N	12	ENSP00000341988:T12N	ENSP00000341988:T12N	T	+	2	0	FAM75D1	83793588	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.884000	0.04166	-0.433000	0.07286	-0.244000	0.11960	ACT		PASS	0.483	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		82	131	82	131	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84606980	84606980	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr9:84606980T>A	ENST00000344803.2	+	4	1642	c.1595T>A	c.(1594-1596)tTc>tAc	p.F532Y		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	532					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.F532Y(2)									TTTGTATTCTTCAATGGCATT	0.483																																						uc004amn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1594-1596)TTC>TAC		hypothetical protein LOC389763							99.0	90.0	93.0					9																	84606980		1929	4145	6074	SO:0001583	missense	389763					integral to membrane		g.chr9:84606980T>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1595T>A	9.37:g.84606980T>A	ENSP00000341988:p.Phe532Tyr						p.F532Y	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	1642	+			532						Missense_Mutation	SNP	ENST00000344803.2	37	c.1595T>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.914861	0.52546	.	.	ENSG00000214929	ENST00000344803	T	0.17691	2.26	3.5	3.5	0.40072	.	0.863223	0.09947	N	0.735176	T	0.43567	0.1253	M	0.83774	2.66	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.13442	-1.0509	10	0.72032	D	0.01	-15.2604	8.5726	0.33578	0.0:0.0:0.0:1.0	.	532	Q6ZQQ2	F75D1_HUMAN	Y	532	ENSP00000341988:F532Y	ENSP00000341988:F532Y	F	+	2	0	FAM75D1	83796800	0.999000	0.42202	0.010000	0.14722	0.021000	0.10359	2.169000	0.42434	1.615000	0.50252	0.482000	0.46254	TTC		PASS	0.483	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		120	22	120	22	---	---	---	---
MURC	347273	broad.mit.edu	37	9	103340680	103340680	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr9:103340680C>G	ENST00000307584.5	+	1	320	c.255C>G	c.(253-255)atC>atG	p.I85M	RN7SKP87_ENST00000364096.1_RNA	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	85					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)		p.I85M(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				CAGGGCATATCATTAACAAAT	0.388																																						uc004bba.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(253-255)ATC>ATG		muscle-related coiled-coil protein							112.0	118.0	116.0					9																	103340680		2203	4300	6503	SO:0001583	missense	347273				cell differentiation|muscle organ development|transcription, DNA-dependent			g.chr9:103340680C>G	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.255C>G	9.37:g.103340680C>G	ENSP00000418668:p.Ile85Met						p.I85M	NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN			1	345	+		Acute lymphoblastic leukemia(62;0.0461)	85					B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	c.255C>G	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	C	7.499	0.652249	0.14580	.	.	ENSG00000170681	ENST00000307584	T	0.59224	0.28	5.09	-0.379	0.12493	.	0.390945	0.26875	N	0.022047	T	0.32734	0.0839	N	0.22421	0.69	0.21740	N	0.999565	B	0.32526	0.374	B	0.26969	0.075	T	0.17899	-1.0354	10	0.72032	D	0.01	-0.9732	3.4203	0.07391	0.2538:0.3841:0.0:0.3621	.	85	Q5BKX8	MURC_HUMAN	M	85	ENSP00000418668:I85M	ENSP00000418668:I85M	I	+	3	3	MURC	102380501	0.000000	0.05858	0.057000	0.19452	0.984000	0.73092	-2.091000	0.01355	0.014000	0.14944	0.655000	0.94253	ATC		PASS	0.388	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		227	36	227	36	---	---	---	---
GSN	2934	broad.mit.edu	37	9	124064369	124064369	+	Silent	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr9:124064369G>A	ENST00000373818.4	+	2	342	c.273G>A	c.(271-273)acG>acA	p.T91T	GSN_ENST00000436847.1_Silent_p.T51T|GSN_ENST00000373823.3_Silent_p.T40T|GSN_ENST00000449733.1_Silent_p.T40T|GSN_ENST00000373808.2_Silent_p.T40T|GSN_ENST00000394353.2_Silent_p.T51T|GSN_ENST00000412819.1_Silent_p.T40T|GSN_ENST00000341272.2_Silent_p.T40T|GSN_ENST00000545652.1_Silent_p.T48T	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	91	Actin-severing. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)	p.T91T(1)|p.T40T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						ACTTCTTCACGGGCGACGCCT	0.597																																						uc004blf.1																			2	Substitution - coding silent(2)		lung(2)	breast(2)|ovary(1)	3						c.(271-273)ACG>ACA		gelsolin isoform a precursor							157.0	144.0	149.0					9																	124064369		2203	4300	6503	SO:0001819	synonymous_variant	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124064369G>A	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.273G>A	9.37:g.124064369G>A						GSN_uc004bld.1_Silent_p.T40T|GSN_uc010mvq.1_Silent_p.T51T|GSN_uc010mvr.1_Silent_p.T51T|GSN_uc010mvu.1_Silent_p.T40T|GSN_uc010mvt.1_Silent_p.T40T|GSN_uc010mvs.1_Silent_p.T40T|GSN_uc004ble.1_Silent_p.T40T|GSN_uc010mvv.1_Silent_p.T40T|GSN_uc011lyh.1_Silent_p.T57T|GSN_uc011lyi.1_Silent_p.T40T|GSN_uc011lyj.1_Silent_p.T64T	p.T91T	NM_000177	NP_000168	P06396	GELS_HUMAN			2	334	+			91			Actin-severing (Potential).|Gelsolin-like 1.		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Silent	SNP	ENST00000373818.4	37	c.273G>A	CCDS6828.1																																																																																				PASS	0.597	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		6	224	6	224	---	---	---	---
ABCA2	20	broad.mit.edu	37	9	139912256	139912256	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr9:139912256C>G	ENST00000371605.3	-	15	2338	c.2191G>C	c.(2191-2193)Gag>Cag	p.E731Q	ABCA2_ENST00000265662.5_Missense_Mutation_p.E732Q|ABCA2_ENST00000341511.6_Missense_Mutation_p.E732Q|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	731					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)	p.E732Q(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGCCGGTGCTCCTTCTCCGCC	0.677																																						uc011mem.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2191-2193)GAG>CAG		ATP-binding cassette, sub-family A, member 2							28.0	31.0	30.0					9																	139912256		2076	4199	6275	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139912256C>G	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2191G>C	9.37:g.139912256C>G	ENSP00000360666:p.Glu731Gln					ABCA2_uc011mel.1_Missense_Mutation_p.E732Q|ABCA2_uc004ckl.1_Missense_Mutation_p.E662Q|ABCA2_uc004ckm.1_Missense_Mutation_p.E762Q|ABCA2_uc004ckn.1_RNA	p.E731Q	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	15	2339	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	731					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.2191G>C		.	.	.	.	.	.	.	.	.	.	C	22.9	4.348437	0.82132	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.95554	-3.74;-3.74;-3.74	3.42	3.42	0.39159	.	0.000000	0.85682	U	0.000000	D	0.97648	0.9229	M	0.85945	2.785	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98461	1.0596	10	0.72032	D	0.01	.	15.3628	0.74492	0.0:1.0:0.0:0.0	.	731;762	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	Q	732;731;762;732	ENSP00000265662:E732Q;ENSP00000360666:E731Q;ENSP00000344155:E732Q	ENSP00000265662:E732Q	E	-	1	0	ABCA2	139032077	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	5.644000	0.67902	1.903000	0.55091	0.313000	0.20887	GAG		PASS	0.677	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		29	4	29	4	---	---	---	---
ABCA2	20	broad.mit.edu	37	9	139912311	139912311	+	Silent	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr9:139912311C>T	ENST00000371605.3	-	15	2283	c.2136G>A	c.(2134-2136)gtG>gtA	p.V712V	ABCA2_ENST00000265662.5_Silent_p.V713V|ABCA2_ENST00000341511.6_Silent_p.V713V|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	712					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)	p.V713V(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCAGGAGATCACCATGCACA	0.677																																						uc011mem.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2134-2136)GTG>GTA		ATP-binding cassette, sub-family A, member 2							32.0	36.0	35.0					9																	139912311		2105	4217	6322	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139912311C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2136G>A	9.37:g.139912311C>T						ABCA2_uc011mel.1_Silent_p.V713V|ABCA2_uc004ckl.1_Silent_p.V643V|ABCA2_uc004ckm.1_Silent_p.V743V|ABCA2_uc004ckn.1_RNA	p.V712V	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	15	2284	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	712			Helical; (Potential).		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.2136G>A																																																																																					PASS	0.677	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		43	2	43	2	---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7218019	7218019	+	Silent	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:7218019C>T	ENST00000361972.4	-	17	2007	c.1917G>A	c.(1915-1917)ttG>ttA	p.L639L	SFMBT2_ENST00000397167.1_Silent_p.L639L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	639					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.L639L(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CAGGACTAAACAAATTTGGAC	0.423																																						uc009xio.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1915-1917)TTG>TTA		Scm-like with four mbt domains 2							182.0	180.0	180.0					10																	7218019		2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7218019C>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1917G>A	10.37:g.7218019C>T						SFMBT2_uc001ijn.1_Silent_p.L639L|SFMBT2_uc010qay.1_Silent_p.L474L	p.L639L	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			17	2008	-			639					A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.1917G>A	CCDS31138.1																																																																																				PASS	0.423	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		138	118	138	118	---	---	---	---
UPF2	26019	broad.mit.edu	37	10	12043711	12043711	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:12043711C>T	ENST00000356352.2	-	5	2091	c.1618G>A	c.(1618-1620)Gct>Act	p.A540T	UPF2_ENST00000357604.5_Missense_Mutation_p.A540T|UPF2_ENST00000397053.2_Missense_Mutation_p.A540T			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	540					gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.A540T(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AGATCTTCAGCTTCATCTCCA	0.353																																						uc001ila.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1618-1620)GCT>ACT		UPF2 regulator of nonsense transcripts homolog							122.0	115.0	117.0					10																	12043711		2202	4300	6502	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12043711C>T	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1618G>A	10.37:g.12043711C>T	ENSP00000348708:p.Ala540Thr					UPF2_uc001ilb.2_Missense_Mutation_p.A540T|UPF2_uc001ilc.2_Missense_Mutation_p.A540T|UPF2_uc009xiz.1_Missense_Mutation_p.A540T	p.A540T	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN			5	2092	-		Renal(717;0.228)	540			Potential.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.1618G>A	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.176316	0.38413	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.45276	0.9;0.9;0.9	5.54	5.54	0.83059	.	0.057185	0.64402	D	0.000002	T	0.32224	0.0822	L	0.36672	1.1	0.49915	D	0.999833	B;B	0.10296	0.0;0.003	B;B	0.06405	0.002;0.002	T	0.08371	-1.0725	10	0.15066	T	0.55	.	13.7598	0.62959	0.0:0.9252:0.0:0.0748	.	510;540	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	T	540;540;510;540;510	ENSP00000348708:A540T;ENSP00000350221:A540T;ENSP00000380244:A540T	ENSP00000313617:A510T	A	-	1	0	UPF2	12083717	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.371000	0.52379	2.775000	0.95449	0.655000	0.94253	GCT		PASS	0.353	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			7	52	7	52	---	---	---	---
DHTKD1	55526	broad.mit.edu	37	10	12123485	12123485	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:12123485G>T	ENST00000263035.4	+	2	231	c.169G>T	c.(169-171)Gcc>Tcc	p.A57S		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	57					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.A57S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TCATGGCCTTGCCAGGTTGGT	0.413																																						uc001ild.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(169-171)GCC>TCC		dehydrogenase E1 and transketolase domain							149.0	140.0	143.0					10																	12123485		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12123485G>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.169G>T	10.37:g.12123485G>T	ENSP00000263035:p.Ala57Ser						p.A57S	NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		2	268	+		Renal(717;0.228)	57					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.169G>T	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444767	0.43429	.	.	ENSG00000181192	ENST00000263035;ENST00000437298	T;T	0.18502	3.54;2.21	4.88	3.96	0.45880	.	0.054274	0.64402	D	0.000001	T	0.13756	0.0333	N	0.20986	0.625	0.58432	D	0.999996	B	0.18310	0.027	B	0.20184	0.028	T	0.04579	-1.0941	10	0.87932	D	0	.	14.3198	0.66479	0.0:0.0:0.8504:0.1496	.	57	Q96HY7	DHTK1_HUMAN	S	57	ENSP00000263035:A57S;ENSP00000388163:A57S	ENSP00000263035:A57S	A	+	1	0	DHTKD1	12163491	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	9.075000	0.94004	1.015000	0.39444	0.655000	0.94253	GCC		PASS	0.413	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		135	108	135	108	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16967399	16967399	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:16967399A>T	ENST00000377833.4	-	43	6552	c.6487T>A	c.(6487-6489)Tct>Act	p.S2163T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2163	CUB 15. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S2163T(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGGGTGGAGAACAGATATCA	0.388																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(6487-6489)TCT>ACT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						50.0	51.0	51.0					10																	16967399		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16967399A>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6487T>A	10.37:g.16967399A>T	ENSP00000367064:p.Ser2163Thr						p.S2163T	NM_001081	NP_001072	O60494	CUBN_HUMAN			43	6539	-			2163			CUB 15.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.6487T>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.352120	0.61183	.	.	ENSG00000107611	ENST00000377833	T	0.19394	2.15	5.32	5.32	0.75619	CUB (5);	0.000000	0.46758	D	0.000277	T	0.44993	0.1320	M	0.77712	2.385	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.43798	-0.9369	10	0.59425	D	0.04	.	11.6926	0.51525	0.8113:0.1887:0.0:0.0	.	2163	O60494	CUBN_HUMAN	T	2163	ENSP00000367064:S2163T	ENSP00000367064:S2163T	S	-	1	0	CUBN	17007405	0.998000	0.40836	0.950000	0.38849	0.761000	0.43186	4.039000	0.57325	2.241000	0.73720	0.533000	0.62120	TCT		PASS	0.388	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		32	34	32	34	---	---	---	---
SLC39A12	221074	broad.mit.edu	37	10	18250781	18250781	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:18250781C>A	ENST00000377369.2	+	3	806	c.533C>A	c.(532-534)tCt>tAt	p.S178Y	SLC39A12_ENST00000539911.1_Missense_Mutation_p.S44Y|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S178Y|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S178Y	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	178					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.S178Y(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTTGACACTTCTCAAAGCCAG	0.418																																						uc001ipo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(532-534)TCT>TAT		solute carrier family 39 (zinc transporter),							56.0	55.0	55.0					10																	18250781		2202	4300	6502	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18250781C>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.533C>A	10.37:g.18250781C>A	ENSP00000366586:p.Ser178Tyr					SLC39A12_uc001ipn.2_Missense_Mutation_p.S178Y|SLC39A12_uc001ipp.2_Missense_Mutation_p.S178Y|SLC39A12_uc010qck.1_Missense_Mutation_p.S44Y	p.S178Y	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			3	806	+			178			Extracellular (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.533C>A	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757354	0.31137	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.64803	1.94;1.94;1.94;-0.12	5.59	3.7	0.42460	.	1.788150	0.02565	N	0.097217	T	0.80199	0.4579	M	0.73598	2.24	0.09310	N	1	D;D;D	0.76494	0.999;0.997;0.999	D;P;D	0.68483	0.958;0.878;0.958	T	0.52931	-0.8509	10	0.72032	D	0.01	-0.2735	10.351	0.43937	0.1353:0.795:0.0:0.0697	.	178;178;178	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	Y	178;178;178;44;98	ENSP00000366586:S178Y;ENSP00000366591:S178Y;ENSP00000366588:S178Y;ENSP00000440445:S44Y	ENSP00000366586:S178Y	S	+	2	0	SLC39A12	18290787	0.006000	0.16342	0.001000	0.08648	0.302000	0.27658	1.925000	0.40074	0.677000	0.31305	0.650000	0.86243	TCT		PASS	0.418	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		35	80	35	80	---	---	---	---
SLC39A12	221074	broad.mit.edu	37	10	18280105	18280105	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:18280105C>A	ENST00000377369.2	+	8	1568	c.1295C>A	c.(1294-1296)gCc>gAc	p.A432D	SLC39A12_ENST00000539911.1_Missense_Mutation_p.A298D|SLC39A12_ENST00000377374.4_Missense_Mutation_p.A432D|SLC39A12_ENST00000377371.3_Missense_Mutation_p.A432D	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	432					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.A432D(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAGCAGGAAGCCCCAGAATTT	0.348																																						uc001ipo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1294-1296)GCC>GAC		solute carrier family 39 (zinc transporter),							82.0	85.0	84.0					10																	18280105		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18280105C>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1295C>A	10.37:g.18280105C>A	ENSP00000366586:p.Ala432Asp					SLC39A12_uc001ipn.2_Missense_Mutation_p.A432D|SLC39A12_uc001ipp.2_Missense_Mutation_p.A432D|SLC39A12_uc010qck.1_Missense_Mutation_p.A298D	p.A432D	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			8	1568	+			432			Cytoplasmic (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1295C>A	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403973	0.42613	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.31	2.41	0.29592	.	0.539436	0.21342	N	0.076109	T	0.28366	0.0701	L	0.28344	0.845	0.19300	N	0.999977	P;B;P	0.40834	0.604;0.04;0.73	B;B;B	0.39419	0.299;0.123;0.299	T	0.08722	-1.0708	10	0.22706	T	0.39	-0.1517	4.1528	0.10245	0.1283:0.5958:0.1348:0.1411	.	432;432;432	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	D	432;432;432;298;352	ENSP00000366586:A432D;ENSP00000366591:A432D;ENSP00000366588:A432D;ENSP00000440445:A298D	ENSP00000366586:A432D	A	+	2	0	SLC39A12	18320111	0.000000	0.05858	0.099000	0.21106	0.987000	0.75469	0.279000	0.18771	0.233000	0.21120	0.650000	0.86243	GCC		PASS	0.348	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		58	55	58	55	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25886785	25886785	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:25886785C>T	ENST00000376351.3	+	11	2589	c.2230C>T	c.(2230-2232)Cgg>Tgg	p.R744W	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	744					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R744W(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCAGAAAAAGCGGTGCTCGAA	0.498																																						uc001isj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2230-2232)CGG>TGG		G protein-coupled receptor 158 precursor							112.0	126.0	121.0					10																	25886785		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886785C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2230C>T	10.37:g.25886785C>T	ENSP00000365529:p.Arg744Trp					GPR158_uc001isk.2_Missense_Mutation_p.R119W	p.R744W	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2290	+			744			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2230C>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183544	0.78677	.	.	ENSG00000151025	ENST00000376351	T	0.66460	-0.21	5.54	4.58	0.56647	.	0.000000	0.64402	D	0.000013	T	0.75532	0.3862	M	0.75615	2.305	0.45025	D	0.998047	D	0.61080	0.989	P	0.56042	0.79	T	0.78723	-0.2093	10	0.87932	D	0	.	11.7345	0.51757	0.3467:0.6533:0.0:0.0	.	744	Q5T848	GP158_HUMAN	W	744	ENSP00000365529:R744W	ENSP00000365529:R744W	R	+	1	2	GPR158	25926791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.330000	0.43885	2.606000	0.88127	0.650000	0.86243	CGG		PASS	0.498	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		49	139	49	139	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31810466	31810466	+	Missense_Mutation	SNP	C	C	T	rs138456617	byFrequency	TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:31810466C>T	ENST00000320985.10	+	7	2313	c.2203C>T	c.(2203-2205)Ctt>Ttt	p.L735F	ZEB1_ENST00000560721.2_Missense_Mutation_p.L715F|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Missense_Mutation_p.L719F|ZEB1_ENST00000542815.3_Missense_Mutation_p.L668F|ZEB1_ENST00000361642.5_Missense_Mutation_p.L736F			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	735					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L735F(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AGTAGAACCTCTTGATCTTTC	0.428																																					Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)	5						c.(2203-2205)CTT>TTT		zinc finger E-box binding homeobox 1 isoform b							91.0	86.0	88.0					10																	31810466		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810466C>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2203C>T	10.37:g.31810466C>T	ENSP00000319248:p.Leu735Phe					ZEB1_uc001ivr.3_Missense_Mutation_p.L517F|ZEB1_uc010qee.1_Missense_Mutation_p.L517F|ZEB1_uc010qef.1_Missense_Mutation_p.L517F|ZEB1_uc009xlj.1_Missense_Mutation_p.L661F|ZEB1_uc010qeg.1_Missense_Mutation_p.L594F|ZEB1_uc009xlk.1_Missense_Mutation_p.L517F|ZEB1_uc001ivt.3_Missense_Mutation_p.L517F|ZEB1_uc001ivu.3_Missense_Mutation_p.L736F|ZEB1_uc001ivv.3_Missense_Mutation_p.L715F|ZEB1_uc010qeh.1_Missense_Mutation_p.L668F|ZEB1_uc009xlo.1_Missense_Mutation_p.L718F|ZEB1_uc009xlp.2_Missense_Mutation_p.L719F	p.L735F	NM_030751	NP_110378	P37275	ZEB1_HUMAN			7	2266	+		Prostate(175;0.0156)	735					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2203C>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735607	0.69189	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.22134	2.28;1.97;2.05;2.09;2.01	5.19	5.19	0.71726	.	0.000000	0.56097	D	0.000039	T	0.50582	0.1624	M	0.77820	2.39	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999;1.0;0.999;0.999	D;D;D;D;D;D;D;D	0.97110	1.0;0.997;0.994;0.994;0.994;0.999;0.994;0.994	T	0.54132	-0.8339	10	0.72032	D	0.01	-9.7034	19.0877	0.93212	0.0:1.0:0.0:0.0	.	668;735;719;735;735;715;736;735	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	F	517;735;736;735;668;735;715;594;626;719	ENSP00000444282:L517F;ENSP00000354487:L736F;ENSP00000444891:L668F;ENSP00000319248:L735F;ENSP00000391612:L719F	ENSP00000319248:L735F	L	+	1	0	ZEB1	31850472	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.691000	0.68249	2.575000	0.86900	0.650000	0.86243	CTT		PASS	0.428	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		36	92	36	92	---	---	---	---
ARHGAP12	94134	broad.mit.edu	37	10	32106816	32106816	+	Splice_Site	SNP	T	T	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:32106816T>A	ENST00000344936.2	-	13	1867		c.e13-2		ARHGAP12_ENST00000311380.4_Splice_Site|ARHGAP12_ENST00000396144.4_Splice_Site|ARHGAP12_ENST00000492028.1_Splice_Site|ARHGAP12_ENST00000375250.5_Splice_Site|ARHGAP12_ENST00000375245.4_Splice_Site	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12						morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.?(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				AGTTTTCAGCTTTAGAGAAAA	0.338																																						uc001ivz.1																			1	Unknown(1)		lung(1)		0						c.e13-1		Rho GTPase activating protein 12							80.0	82.0	81.0					10																	32106816		2202	4300	6502	SO:0001630	splice_region_variant	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32106816T>A	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1633-2A>T	10.37:g.32106816T>A						ARHGAP12_uc001ivy.1_Splice_Site_p.L491_splice|ARHGAP12_uc009xls.2_Splice_Site_p.L496_splice|ARHGAP12_uc001iwb.1_Splice_Site_p.L538_splice|ARHGAP12_uc001iwc.1_Splice_Site_p.L513_splice|ARHGAP12_uc009xlq.1_Splice_Site_p.L466_splice|ARHGAP12_uc001iwd.1_Splice_Site_p.L513_splice|ARHGAP12_uc009xlr.1_Splice_Site_p.L543_splice	p.L545_splice	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN			13	1903	-		Prostate(175;0.0199)						B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Splice_Site	SNP	ENST00000344936.2	37	c.1633_splice	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.110503	0.77210	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.221	0.73310	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP12	32146822	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.204000	0.77872	2.046000	0.60703	0.533000	0.62120	.		PASS	0.338	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1		Intron	23	72	23	72	---	---	---	---
GDF2	2658	broad.mit.edu	37	10	48414071	48414071	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:48414071T>C	ENST00000249598.1	-	2	956	c.797A>G	c.(796-798)aAg>aGg	p.K266R		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	266					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.K266R(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCTGGTCTCCTTGGTCCCACT	0.572																																						uc001jfa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(796-798)AAG>AGG		growth differentiation factor 2 precursor							86.0	73.0	77.0					10																	48414071		2203	4300	6503	SO:0001583	missense	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48414071T>C	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.797A>G	10.37:g.48414071T>C	ENSP00000249598:p.Lys266Arg						p.K266R	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			2	960	-			266					Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	c.797A>G	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	T	9.669	1.146319	0.21288	.	.	ENSG00000128802	ENST00000249598	T	0.76968	-1.06	5.46	3.11	0.35812	.	0.182898	0.64402	D	0.000013	T	0.66237	0.2769	L	0.52364	1.645	0.34625	D	0.71903	B	0.25441	0.126	B	0.18871	0.023	T	0.61362	-0.7078	10	0.11485	T	0.65	.	9.2833	0.37742	0.0:0.1479:0.0:0.8521	.	266	Q9UK05	GDF2_HUMAN	R	266	ENSP00000249598:K266R	ENSP00000249598:K266R	K	-	2	0	GDF2	48034077	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	1.060000	0.30530	0.373000	0.24621	0.383000	0.25322	AAG		PASS	0.572	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		19	56	19	56	---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49392891	49392891	+	Missense_Mutation	SNP	T	T	C	rs376247926		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:49392891T>C	ENST00000374201.3	-	19	2695	c.2393A>G	c.(2392-2394)cAa>cGa	p.Q798R	FRMPD2_ENST00000407470.4_Missense_Mutation_p.Q766R|FRMPD2_ENST00000305531.3_Missense_Mutation_p.Q773R	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	798	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.Q798R(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGGGTCAGCTTGGCCTGAATA	0.378																																						uc001jgi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(2392-2394)CAA>CGA		FERM and PDZ domain containing 2 isoform 3		T	ARG/GLN	1,4405	2.1+/-5.4	0,1,2202	82.0	80.0	81.0		2393	4.1	0.0	10		81	0,8600		0,0,4300	no	missense	FRMPD2	NM_001018071.3	43	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	798/1310	49392891	1,13005	2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49392891T>C	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2393A>G	10.37:g.49392891T>C	ENSP00000363317:p.Gln798Arg					FRMPD2_uc001jgh.2_Missense_Mutation_p.Q766R|FRMPD2_uc001jgj.2_Missense_Mutation_p.Q776R	p.Q798R	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	19	2500	-			798			PDZ 1.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.2393A>G	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	T	4.756	0.140659	0.09083	2.27E-4	0.0	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.37915	1.17;1.17;1.17	5.24	4.08	0.47627	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.14227	0.0344	N	0.01284	-0.91	0.09310	N	1	B;B;B	0.28933	0.228;0.075;0.228	B;B;B	0.27796	0.083;0.021;0.083	T	0.18745	-1.0327	9	0.32370	T	0.25	.	10.4797	0.44687	0.0:0.0:0.1632:0.8368	.	773;798;766	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	R	798;773;766	ENSP00000363317:Q798R;ENSP00000307079:Q773R;ENSP00000384339:Q766R	ENSP00000307079:Q773R	Q	-	2	0	FRMPD2	49062897	1.000000	0.71417	0.002000	0.10522	0.745000	0.42441	3.658000	0.54482	0.915000	0.36847	0.533000	0.62120	CAA		PASS	0.378	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		11	39	11	39	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61831882	61831882	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:61831882C>A	ENST00000280772.2	-	37	8948	c.8757G>T	c.(8755-8757)atG>atT	p.M2919I	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2919					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.M2919I(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTTTACAGTCATTTCTTTAA	0.403																																						uc001jky.2																			1	Substitution - Missense(1)		lung(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(8755-8757)ATG>ATT		ankyrin 3 isoform 1							46.0	48.0	47.0					10																	61831882		2201	4299	6500	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831882C>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8757G>T	10.37:g.61831882C>A	ENSP00000280772:p.Met2919Ile					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.M2919I	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	8949	-			2919					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.8757G>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489351	0.26686	.	.	ENSG00000151150	ENST00000280772	T	0.61980	0.06	5.6	5.6	0.85130	.	0.129615	0.35207	N	0.003364	T	0.45418	0.1341	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.32666	-0.9898	10	0.38643	T	0.18	.	17.7841	0.88532	0.0:1.0:0.0:0.0	.	2919	Q12955	ANK3_HUMAN	I	2919	ENSP00000280772:M2919I	ENSP00000280772:M2919I	M	-	3	0	ANK3	61501888	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.498000	0.45363	2.639000	0.89480	0.455000	0.32223	ATG		PASS	0.403	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		46	57	46	57	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64944447	64944447	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:64944447T>A	ENST00000399262.2	-	21	7100	c.6882A>T	c.(6880-6882)gaA>gaT	p.E2294D	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E2057D|JMJD1C_ENST00000542921.1_Missense_Mutation_p.E2112D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2294	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.E2294D(1)|p.E2057D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGAATTTTCCTTCTGGATTAC	0.363																																						uc001jmn.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(6880-6882)GAA>GAT		jumonji domain containing 1C isoform a							94.0	92.0	92.0					10																	64944447		1823	4075	5898	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64944447T>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6882A>T	10.37:g.64944447T>A	ENSP00000382204:p.Glu2294Asp					JMJD1C_uc001jml.2_Missense_Mutation_p.E2057D|JMJD1C_uc001jmm.2_Missense_Mutation_p.E2006D|JMJD1C_uc010qiq.1_Missense_Mutation_p.E2112D|JMJD1C_uc009xpi.2_Missense_Mutation_p.E2112D|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Missense_Mutation_p.E201D	p.E2294D	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			21	7182	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		2294			JmjC.		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.6882A>T	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.63|12.63	1.994560|1.994560	0.35226|0.35226	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921|ENST00000327520	T;T;T|.	0.65549|.	-0.16;-0.16;-0.16|.	5.96|5.96	4.83|4.83	0.62350|0.62350	Transcription factor jumonji/aspartyl beta-hydroxylase (2);|.	0.049476|.	0.85682|.	D|.	0.000000|.	T|T	0.25419|0.25419	0.0618|0.0618	N|N	0.04636|0.04636	-0.2|-0.2	0.80722|0.80722	D|D	1|1	B;B;B|.	0.26483|.	0.034;0.15;0.002|.	B;B;B|.	0.22386|.	0.012;0.039;0.003|.	T|T	0.10706|0.10706	-1.0618|-1.0618	10|5	0.06757|.	T|.	0.87|.	-22.8452|-22.8452	7.3069|7.3069	0.26453|0.26453	0.0:0.0732:0.1462:0.7806|0.0:0.0732:0.1462:0.7806	.|.	2112;2294;2112|.	B7ZLC8;Q15652;A0T124|.	.;JHD2C_HUMAN;.|.	D|M	2294;2057;2112|841	ENSP00000382204:E2294D;ENSP00000384990:E2057D;ENSP00000444682:E2112D|.	ENSP00000382204:E2294D|.	E|K	-|-	3|2	2|0	JMJD1C|JMJD1C	64614453|64614453	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.446000|0.446000	0.21694|0.21694	2.283000|2.283000	0.76528|0.76528	0.477000|0.477000	0.44152|0.44152	GAA|AAG		PASS	0.363	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		35	89	35	89	---	---	---	---
CFAP70	118491	broad.mit.edu	37	10	75056899	75056899	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:75056899G>T	ENST00000310715.3	-	16	1875	c.1755C>A	c.(1753-1755)taC>taA	p.Y585*	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Nonsense_Mutation_p.Y54*|TTC18_ENST00000394865.1_Nonsense_Mutation_p.Y585*|TTC18_ENST00000401621.2_Nonsense_Mutation_p.Y585*|TTC18_ENST00000340329.3_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		585						extracellular vesicular exosome (GO:0070062)		p.Y585*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTGTCTTCAAGTATTTATCTC	0.438																																						uc009xrc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1753-1755)TAC>TAA		tetratricopeptide repeat domain 18							190.0	169.0	176.0					10																	75056899		2203	4300	6503	SO:0001587	stop_gained	118491						binding	g.chr10:75056899G>T																												ENST00000310715.3:c.1755C>A	10.37:g.75056899G>T	ENSP00000310829:p.Tyr585*					TTC18_uc001jty.2_Nonsense_Mutation_p.Y585*|TTC18_uc009xrd.1_Nonsense_Mutation_p.Y399*|TTC18_uc001jtx.2_5'UTR	p.Y585*	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN			16	1876	-	Prostate(51;0.0119)		585					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Nonsense_Mutation	SNP	ENST00000310715.3	37	c.1755C>A	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	G	39	7.411247	0.98269	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000394865	.	.	.	5.12	-0.215	0.13157	.	0.368822	0.29028	N	0.013376	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.1514	9.0313	0.36260	0.4977:0.0:0.5023:0.0	.	.	.	.	X	585	.	ENSP00000310829:Y585X	Y	-	3	2	TTC18	74726905	1.000000	0.71417	0.878000	0.34440	0.971000	0.66376	0.828000	0.27435	-0.238000	0.09724	0.557000	0.71058	TAC		PASS	0.438	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				31	79	31	79	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75526283	75526283	+	Missense_Mutation	SNP	C	C	T	rs148361947	byFrequency	TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:75526283C>T	ENST00000339365.2	+	13	1945	c.1783C>T	c.(1783-1785)Cgg>Tgg	p.R595W	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.R595W|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Missense_Mutation_p.R476W|SEC24C_ENST00000546025.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	595					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.R595W(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CAATGAGTCTCGGGCAGTTAT	0.517													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20346	0.0		0.0	False		,,,				2504	0.0					uc001juw.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1783-1785)CGG>TGG		SEC24-related protein C		C	TRP/ARG,TRP/ARG	10,4396	16.8+/-37.8	0,10,2193	69.0	60.0	63.0		1783,1783	4.9	1.0	10	dbSNP_134	63	0,8600		0,0,4300	yes	missense,missense	SEC24C	NM_004922.3,NM_198597.2	101,101	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	probably-damaging,probably-damaging	595/1095,595/1095	75526283	10,12996	2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75526283C>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1783C>T	10.37:g.75526283C>T	ENSP00000343405:p.Arg595Trp					SEC24C_uc010qkn.1_RNA|SEC24C_uc009xrj.1_Missense_Mutation_p.R453W|SEC24C_uc001jux.2_Missense_Mutation_p.R595W|SEC24C_uc010qko.1_Missense_Mutation_p.R476W|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	p.R595W	NM_004922	NP_004913	P53992	SC24C_HUMAN			13	1962	+	Prostate(51;0.0112)		595					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.1783C>T	CCDS7332.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	17.36	3.370382	0.61624	0.00227	0.0	ENSG00000176986	ENST00000345254;ENST00000339365;ENST00000411652	T;T;T	0.75821	-0.97;-0.97;-0.97	5.89	4.94	0.65067	Sec23/Sec24, trunk domain (1);	0.048575	0.85682	D	0.000000	D	0.84288	0.5439	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.94;0.973;0.984	D	0.87920	0.2703	10	0.87932	D	0	-12.7673	14.1903	0.65635	0.2544:0.7456:0.0:0.0	.	476;595;595	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	W	595;595;476	ENSP00000321845:R595W;ENSP00000343405:R595W;ENSP00000402913:R476W	ENSP00000343405:R595W	R	+	1	2	SEC24C	75196289	0.980000	0.34600	1.000000	0.80357	0.995000	0.86356	1.905000	0.39878	2.810000	0.96702	0.650000	0.86243	CGG		PASS	0.517	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			24	50	24	50	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87373339	87373340	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:87373339_87373340CC>AA	ENST00000327946.7	-	15	2510_2511	c.2425_2426GG>TT	c.(2425-2427)GGc>TTc	p.G809F	GRID1_ENST00000536331.1_Missense_Mutation_p.G380F|GRID1_ENST00000552278.2_5'Flank	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	809					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.G809C(2)|p.G809F(1)|p.G809V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GTCACAGCGGCCCATGTGCGGC	0.609										Multiple Myeloma(13;0.14)																												uc001kdl.1																			4	Substitution - Missense(4)		lung(3)|skin(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(2425-2427)GGC>GTC|c.(2425-2427)GGC>TGC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)																																			SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87373339C>A|g.chr10:87373340C>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2425_2426delinsAA	10.37:g.87373339_87373340delinsAA	ENSP00000330148:p.Gly809Phe	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.G380V|GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.G380C	p.G809V|p.G809C	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			15	2527|2526	-			809			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2426G>T|c.2425G>T	CCDS31236.1																																																																																				PASS	0.609	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		19	39|42	19	39	---	---	---	---
PNLIPRP3	119548	broad.mit.edu	37	10	118215325	118215325	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:118215325G>T	ENST00000369230.3	+	5	694	c.548G>T	c.(547-549)gGc>gTc	p.G183V		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	183					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.G183V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AGGATACCAGGCCTTGGAAGA	0.443																																						uc001lcl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(547-549)GGC>GTC		pancreatic lipase-related protein 3 precursor							91.0	67.0	75.0					10																	118215325		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118215325G>T	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.548G>T	10.37:g.118215325G>T	ENSP00000358232:p.Gly183Val						p.G183V	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	5	649	+			183						Missense_Mutation	SNP	ENST00000369230.3	37	c.548G>T	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293002	0.60086	.	.	ENSG00000203837	ENST00000369230	D	0.90900	-2.75	4.8	4.8	0.61643	Lipase, N-terminal (1);	0.000000	0.53938	D	0.000050	D	0.94918	0.8357	M	0.88704	2.975	0.58432	D	0.999999	P	0.51791	0.948	P	0.54431	0.752	D	0.95910	0.8922	10	0.87932	D	0	.	18.0212	0.89255	0.0:0.0:1.0:0.0	.	183	Q17RR3	LIPR3_HUMAN	V	183	ENSP00000358232:G183V	ENSP00000358232:G183V	G	+	2	0	PNLIPRP3	118205315	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.852000	0.69488	2.479000	0.83701	0.655000	0.94253	GGC		PASS	0.443	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		24	66	24	66	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118385573	118385573	+	RNA	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:118385573C>A	ENST00000298771.7	+	0	346				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.D107E(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GGCCATCGGACATGTGCAAGG	0.542																																						uc001lcq.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(322-324)GAC>GAA		pancreatic lipase-related protein 2							53.0	56.0	55.0					10																	118385573		2151	4281	6432			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118385573C>A	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118385573C>A						PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	p.D108E	NM_005396	NP_005387	P54317	LIPR2_HUMAN		all cancers(201;0.015)	6	347	+			107					A8K627|Q6IB55	Missense_Mutation	SNP	ENST00000298771.7	37	c.324C>A		.	.	.	.	.	.	.	.	.	.	C	10.99	1.508641	0.27036	.	.	ENSG00000165862	ENST00000537242	D	0.90197	-2.63	5.86	4.96	0.65561	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000011	D	0.83552	0.5279	.	.	.	0.25819	N	0.984302	B	0.06786	0.001	B	0.08055	0.003	T	0.65664	-0.6113	9	0.14252	T	0.57	.	16.3017	0.82820	0.0:0.8671:0.1329:0.0	.	107	P54317	LIPR2_HUMAN	E	107	ENSP00000446346:D107E	ENSP00000446346:D107E	D	+	3	2	PNLIPRP2	118375563	0.992000	0.36948	0.999000	0.59377	0.582000	0.36321	0.189000	0.17037	1.611000	0.50210	0.650000	0.86243	GAC		PASS	0.542	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		12	14	12	14	---	---	---	---
NPS	594857	broad.mit.edu	37	10	129350859	129350859	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:129350859G>C	ENST00000398023.1	+	3	246	c.226G>C	c.(226-228)Ggc>Cgc	p.G76R		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	76					neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|visual learning (GO:0008542)	extracellular region (GO:0005576)		p.G76R(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CAATGGAGTTGGCACAGGGAT	0.423																																						uc001ljx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(226-228)GGC>CGC		neuropeptide S precursor							164.0	162.0	163.0					10																	129350859		1860	4104	5964	SO:0001583	missense	594857				neuropeptide signaling pathway	extracellular region		g.chr10:129350859G>C	BC148465	CCDS41577.1	10q26.2	2013-02-26			ENSG00000214285	ENSG00000214285		"""Endogenous ligands"""	33940	protein-coding gene	gene with protein product	"""prepro-neuropeptide S"""	609513				18181564, 15312648	Standard	NM_001030013		Approved		uc001ljx.1	P0C0P6		ENST00000398023.1:c.226G>C	10.37:g.129350859G>C	ENSP00000381105:p.Gly76Arg						p.G76R	NM_001030013	NP_001025184	P0C0P6	NPS_HUMAN			3	246	+			76						Missense_Mutation	SNP	ENST00000398023.1	37	c.226G>C	CCDS41577.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962283	0.74016	.	.	ENSG00000214285	ENST00000398023	T	0.69435	-0.4	5.59	4.68	0.58851	.	0.000000	0.31949	U	0.006805	T	0.72953	0.3525	.	.	.	0.45183	D	0.99819	P	0.46020	0.871	P	0.48571	0.582	T	0.77381	-0.2609	9	0.87932	D	0	-10.1784	16.5335	0.84367	0.0:0.1308:0.8692:0.0	.	76	P0C0P6	NPS_HUMAN	R	76	ENSP00000381105:G76R	ENSP00000381105:G76R	G	+	1	0	NPS	129240849	1.000000	0.71417	0.978000	0.43139	0.986000	0.74619	6.210000	0.72176	1.352000	0.45808	0.585000	0.79938	GGC		PASS	0.423	NPS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001030013		60	198	60	198	---	---	---	---
INPP5A	3632	broad.mit.edu	37	10	134563057	134563057	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:134563057G>T	ENST00000368594.3	+	10	1046	c.769G>T	c.(769-771)Gcc>Tcc	p.A257S	INPP5A_ENST00000368593.3_Missense_Mutation_p.A257S	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	257					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)	p.A257S(2)		cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		GACGGTCCGGGCCGCCGACAC	0.627																																					Pancreas(63;823 1267 11107 20380 51626)	uc001llp.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(769-771)GCC>TCC		inositol polyphosphate-5-phosphatase A							67.0	61.0	63.0					10																	134563057		2202	4300	6502	SO:0001583	missense	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134563057G>T	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.769G>T	10.37:g.134563057G>T	ENSP00000357583:p.Ala257Ser					INPP5A_uc001llo.1_Missense_Mutation_p.A257S|INPP5A_uc001llq.2_Intron	p.A257S	NM_005539	NP_005530	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	10	1017	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	257					D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	c.769G>T	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	G	2.161	-0.392109	0.04932	.	.	ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000432898	T;T	0.44482	0.93;0.92	5.1	4.18	0.49190	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.234792	0.43747	D	0.000533	T	0.32971	0.0847	L	0.40543	1.245	0.42072	D	0.99121	B;B	0.27166	0.103;0.17	B;B	0.27796	0.038;0.083	T	0.08973	-1.0696	10	0.09338	T	0.73	-16.867	15.1176	0.72416	0.0:0.0:0.8572:0.1428	.	257;257	Q14642;Q5T1B5	I5P1_HUMAN;.	S	257;257;174	ENSP00000357583:A257S;ENSP00000357582:A257S	ENSP00000357582:A257S	A	+	1	0	INPP5A	134413047	1.000000	0.71417	0.193000	0.23327	0.072000	0.16883	6.444000	0.73452	1.256000	0.44068	0.655000	0.94253	GCC		PASS	0.627	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		8	50	8	50	---	---	---	---
PAOX	196743	broad.mit.edu	37	10	135203156	135203156	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr10:135203156A>C	ENST00000278060.5	+	6	1380	c.1297A>C	c.(1297-1299)Act>Cct	p.T433P	PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR|RP11-108K14.8_ENST00000468317.2_5'Flank|PAOX_ENST00000357296.3_Intron|PAOX_ENST00000480071.2_Intron	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	571					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.T433P(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		CGCCCCGTACACTAGGGGGTC	0.672																																						uc001lmv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1297-1299)ACT>CCT		polyamine oxidase isoform 1							44.0	46.0	45.0					10																	135203156		2203	4299	6502	SO:0001583	missense	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135203156A>C	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.1297A>C	10.37:g.135203156A>C	ENSP00000278060:p.Thr433Pro					PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Intron|PAOX_uc001lmy.2_Intron|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA	p.T433P	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	6	1377	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	571					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	ENST00000278060.5	37	c.1297A>C	CCDS7683.1	.	.	.	.	.	.	.	.	.	.	a	16.63	3.177051	0.57692	.	.	ENSG00000148832	ENST00000368542;ENST00000368538;ENST00000278060	D	0.91521	-2.86	5.18	4.03	0.46877	.	0.152000	0.64402	D	0.000017	D	0.94604	0.8261	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	D	0.66351	0.943	D	0.93656	0.6977	10	0.49607	T	0.09	-34.2765	9.5908	0.39545	0.8432:0.0:0.0:0.1568	.	433	Q6QHF9-2	.	P	385;154;433	ENSP00000278060:T433P	ENSP00000278060:T433P	T	+	1	0	PAOX	135053146	1.000000	0.71417	0.986000	0.45419	0.429000	0.31625	4.218000	0.58554	0.953000	0.37825	0.533000	0.62120	ACT		PASS	0.672	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		55	47	55	47	---	---	---	---
UBQLNL	143630	broad.mit.edu	37	11	5536531	5536531	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr11:5536531G>T	ENST00000380184.1	-	1	1404	c.1141C>A	c.(1141-1143)Cca>Aca	p.P381T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	381								p.P381T(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGTAAGGCTGGTATCCAAGCT	0.488																																						uc001maz.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(1)	3						c.(1141-1143)CCA>ACA		ubiquilin-like							181.0	175.0	177.0					11																	5536531		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5536531G>T	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.1141C>A	11.37:g.5536531G>T	ENSP00000369531:p.Pro381Thr					HBG2_uc001mak.1_Intron	p.P381T	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	1426	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	381					Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.1141C>A	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	G	7.459	0.644371	0.14451	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.52526	0.66	5.03	4.11	0.48088	.	0.590997	0.14097	N	0.341633	T	0.47488	0.1448	L	0.53249	1.67	0.09310	N	1	P	0.50443	0.935	P	0.44990	0.466	T	0.39143	-0.9628	10	0.59425	D	0.04	-15.7927	11.2733	0.49153	0.0:0.184:0.816:0.0	.	381	Q8IYU4	UBQLN_HUMAN	T	381;166	ENSP00000369531:P381T	ENSP00000369531:P381T	P	-	1	0	UBQLNL	5493107	0.536000	0.26378	0.012000	0.15200	0.064000	0.16182	1.540000	0.36115	1.295000	0.44724	0.655000	0.94253	CCA		PASS	0.488	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		83	84	83	84	---	---	---	---
OR56A4	120793	broad.mit.edu	37	11	6023660	6023660	+	Missense_Mutation	SNP	G	G	A	rs116778909		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr11:6023660G>A	ENST00000330728.4	-	1	764	c.719C>T	c.(718-720)tCc>tTc	p.S240F		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S240F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGAGTTTGGACACAGACAG	0.443																																						uc010qzv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(718-720)TCC>TTC		olfactory receptor, family 56, subfamily A,							56.0	55.0	55.0					11																	6023660		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023660G>A	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.719C>T	11.37:g.6023660G>A	ENSP00000328215:p.Ser240Phe						p.S240F	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	719	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	188			Extracellular (Potential).		B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.719C>T	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838474	0.51057	.	.	ENSG00000183389	ENST00000330728	T	0.00069	8.77	3.72	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35349	U	0.003268	T	0.00328	0.0010	L	0.61036	1.89	0.27378	N	0.955494	D	0.56968	0.978	D	0.71184	0.972	T	0.40869	-0.9540	10	0.87932	D	0	.	8.2559	0.31756	0.2062:0.0:0.7938:0.0	.	188	Q8NGH8	O56A4_HUMAN	F	240	ENSP00000328215:S240F	ENSP00000328215:S240F	S	-	2	0	OR56A4	5980236	0.055000	0.20627	0.997000	0.53966	0.994000	0.84299	2.952000	0.49097	0.850000	0.35239	0.655000	0.94253	TCC		PASS	0.443	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		15	87	15	87	---	---	---	---
CNGA4	1262	broad.mit.edu	37	11	6261348	6261348	+	Silent	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr11:6261348C>T	ENST00000379936.2	+	4	439	c.324C>T	c.(322-324)cgC>cgT	p.R108R	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	108					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R108R(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCGAGTCGCTACGTTCGCA	0.602																																						uc001mco.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(322-324)CGC>CGT		cyclic nucleotide gated channel alpha 4							126.0	116.0	119.0					11																	6261348		2201	4296	6497	SO:0001819	synonymous_variant	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261348C>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.324C>T	11.37:g.6261348C>T						CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Silent_p.R68R	p.R108R	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	431	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	108			Cytoplasmic (Potential).			Silent	SNP	ENST00000379936.2	37	c.324C>T	CCDS31408.1																																																																																				PASS	0.602	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		134	131	134	131	---	---	---	---
LYVE1	10894	broad.mit.edu	37	11	10585798	10585798	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr11:10585798C>T	ENST00000256178.3	-	2	367	c.209G>A	c.(208-210)gGc>gAc	p.G70D	MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000529598.1_Intron|MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000531706.1_Intron	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	70	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.G70D(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		TTGGTCCTTGCCGGCCAAACT	0.473																																						uc001miv.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(208-210)GGC>GAC		lymphatic vessel endothelial hyaluronan receptor							91.0	85.0	87.0					11																	10585798		2201	4294	6495	SO:0001583	missense	10894				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction		g.chr11:10585798C>T	AF118108	CCDS7804.1	11p15	2008-02-05	2007-06-26	2007-06-26		ENSG00000133800			14687	protein-coding gene	gene with protein product		605702	"""extracellular link domain containing 1"""	XLKD1		10037799, 12554094	Standard	NM_006691		Approved	LYVE-1	uc001miv.2	Q9Y5Y7		ENST00000256178.3:c.209G>A	11.37:g.10585798C>T	ENSP00000256178:p.Gly70Asp					uc001miu.2_Intron|LYVE1_uc010rca.1_Intron	p.G70D	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN		all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)	2	495	-			70			Link.|Extracellular (Potential).		Q8TC18|Q9UNF4	Missense_Mutation	SNP	ENST00000256178.3	37	c.209G>A	CCDS7804.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.655650	0.29425	.	.	ENSG00000133800	ENST00000256178	T	0.09350	2.99	5.61	5.61	0.85477	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.210837	0.53938	D	0.000059	T	0.06735	0.0172	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.25641	-1.0126	10	0.62326	D	0.03	-8.4768	12.5076	0.55989	0.0:0.9197:0.0:0.0803	.	70	Q9Y5Y7	LYVE1_HUMAN	D	70	ENSP00000256178:G70D	ENSP00000256178:G70D	G	-	2	0	LYVE1	10542374	1.000000	0.71417	0.999000	0.59377	0.162000	0.22319	1.682000	0.37628	2.646000	0.89796	0.555000	0.69702	GGC		PASS	0.473	LYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385893.1	NM_016164		4	108	4	108	---	---	---	---
SLC5A12	159963	broad.mit.edu	37	11	26743259	26743259	+	Start_Codon_SNP	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr11:26743259C>A	ENST00000396005.3	-	1	312	c.3G>T	c.(1-3)atG>atT	p.M1I	SLC5A12_ENST00000280467.6_Start_Codon_SNP_p.M1I	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	1					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.M1I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TCTTCACCTCCATATTGGAAA	0.408																																						uc001mra.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1-3)ATG>ATT		solute carrier family 5 (sodium/glucose							82.0	85.0	84.0					11																	26743259		2202	4297	6499	SO:0001582	initiator_codon_variant	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26743259C>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.3G>T	11.37:g.26743259C>A	ENSP00000379326:p.Met1Ile					SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.3_Missense_Mutation_p.M1I	p.M1I	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			1	316	-			1			Extracellular (Potential).		Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.3G>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	8.002	0.755705	0.15846	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.84800	-1.9;-1.5	5.37	2.1	0.27182	.	0.629622	0.15498	N	0.259158	T	0.72993	0.3530	.	.	.	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.69405	-0.5154	9	0.52906	T	0.07	.	0.7963	0.01067	0.3013:0.347:0.15:0.2017	.	1;1	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	I	1	ENSP00000379326:M1I;ENSP00000280467:M1I	ENSP00000280467:M1I	M	-	3	0	SLC5A12	26699835	1.000000	0.71417	0.667000	0.29798	0.281000	0.26958	4.655000	0.61476	1.269000	0.44280	0.585000	0.79938	ATG		PASS	0.408	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498	Missense_Mutation	97	126	97	126	---	---	---	---
DDB2	1643	broad.mit.edu	37	11	47259387	47259387	+	Splice_Site	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr11:47259387G>A	ENST00000256996.4	+	8	1218		c.e8-1		ACP2_ENST00000525230.1_5'Flank|DDB2_ENST00000378600.3_Splice_Site|DDB2_ENST00000378601.3_Splice_Site|DDB2_ENST00000378603.3_Splice_Site	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa						DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						CCATCTCCTAGGCAGCCTGGC	0.453			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001neb.2			yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	Mis|N	damage-specific DNA binding protein 2			E		skin basal cell|skin squamous cell|melanoma			1	Unknown(1)		lung(1)	kidney(2)|ovary(1)	3						c.e8-1	Direct_reversal_of_damage|NER	damage-specific DNA binding protein 2							83.0	82.0	83.0					11																	47259387		2201	4298	6499	SO:0001630	splice_region_variant	1643	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47259387G>A		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.1024-1G>A	11.37:g.47259387G>A						DDB2_uc001nec.2_Splice_Site|DDB2_uc009yli.1_Splice_Site_p.A278_splice|DDB2_uc001ned.2_Splice_Site|DDB2_uc001nee.2_Splice_Site_p.A153_splice|DDB2_uc001nef.2_Splice_Site_p.A139_splice|DDB2_uc001neg.2_Splice_Site_p.A201_splice|DDB2_uc001neh.2_Splice_Site	p.A342_splice	NM_000107	NP_000098	Q92466	DDB2_HUMAN			8	1219	+								B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Splice_Site	SNP	ENST00000256996.4	37	c.1024_splice	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920938	0.92249	.	.	ENSG00000134574	ENST00000256996;ENST00000378603;ENST00000378600	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDB2	47215963	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.259000	0.95561	2.894000	0.99253	0.655000	0.94253	.		PASS	0.453	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107	Intron	65	21	65	21	---	---	---	---
PTPRJ	5795	broad.mit.edu	37	11	48145189	48145189	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr11:48145189G>T	ENST00000418331.2	+	5	993	c.641G>T	c.(640-642)cGt>cTt	p.R214L	PTPRJ_ENST00000440289.2_Missense_Mutation_p.R214L	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	214	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> C (in a colon cancer sample; somatic mutation). {ECO:0000269|PubMed:12089527}.		contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.R214L(2)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCTGATCTCCGTGTTGCCCTC	0.478																																						uc001ngp.3																			2	Substitution - Missense(2)		lung(2)	breast(3)|kidney(3)|ovary(1)|skin(1)	8						c.(640-642)CGT>CTT		protein tyrosine phosphatase, receptor type, J							72.0	69.0	70.0					11																	48145189		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48145189G>T	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.641G>T	11.37:g.48145189G>T	ENSP00000400010:p.Arg214Leu					PTPRJ_uc001ngo.3_Missense_Mutation_p.R214L	p.R214L	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			5	996	+			214		R -> C (in a colon cancer sample; somatic mutation).	Extracellular (Potential).|Fibronectin type-III 2.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.641G>T	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383737	0.42308	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289;ENST00000527952	T;T	0.54071	0.59;0.59	5.85	-3.05	0.05396	Fibronectin, type III (3);	.	.	.	.	T	0.32346	0.0826	N	0.24115	0.695	0.09310	N	1	B;P	0.46220	0.3;0.874	B;B	0.37451	0.062;0.25	T	0.25187	-1.0139	9	0.37606	T	0.19	.	11.0224	0.47726	0.6555:0.0:0.3445:0.0	.	214;214	Q12913;Q6P4H4	PTPRJ_HUMAN;.	L	214;214;214;126	ENSP00000400010:R214L;ENSP00000409733:R214L	ENSP00000278456:R214L	R	+	2	0	PTPRJ	48101765	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.483000	0.02318	-0.350000	0.08262	-0.140000	0.14226	CGT		PASS	0.478	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			48	13	48	13	---	---	---	---
OR5D16	390144	broad.mit.edu	37	11	55606581	55606581	+	Silent	SNP	G	G	T	rs139231893	byFrequency	TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr11:55606581G>T	ENST00000378396.1	+	1	354	c.354G>T	c.(352-354)gcG>gcT	p.A118A		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A118A(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTCTATTTGCGGTGATGGCCT	0.423																																						uc010rio.1																			2	Substitution - coding silent(2)	p.A118V(1)	prostate(1)|lung(1)	ovary(4)|skin(1)	5						c.(352-354)GCG>GCT		olfactory receptor, family 5, subfamily D,							126.0	121.0	122.0					11																	55606581		2201	4296	6497	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606581G>T	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.354G>T	11.37:g.55606581G>T							p.A118A	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	354	+		all_epithelial(135;0.208)	118			Helical; Name=3; (Potential).		Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.354G>T	CCDS31512.1																																																																																				PASS	0.423	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		128	200	128	200	---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55761527	55761527	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr11:55761527G>T	ENST00000278409.1	-	1	574	c.575C>A	c.(574-576)aCa>aAa	p.T192K		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	192			T -> A (in dbSNP:rs35607186).		detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T192K(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TTTCAGGATTGTGTCAGAACA	0.448																																						uc010riv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(574-576)ACA>AAA		olfactory receptor, family 5, subfamily F,							90.0	84.0	86.0					11																	55761527		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761527G>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.575C>A	11.37:g.55761527G>T	ENSP00000278409:p.Thr192Lys						p.T192K	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	575	-	Esophageal squamous(21;0.00448)		192			Extracellular (Potential).		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.575C>A	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751759	0.31046	.	.	ENSG00000149133	ENST00000278409	T	0.00253	8.43	3.03	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00468	0.0015	M	0.86805	2.84	0.25309	N	0.989212	D	0.67145	0.996	D	0.68765	0.96	T	0.46843	-0.9162	9	0.54805	T	0.06	.	3.274	0.06892	0.1488:0.0:0.5912:0.26	.	192	O95221	OR5F1_HUMAN	K	192	ENSP00000278409:T192K	ENSP00000278409:T192K	T	-	2	0	OR5F1	55518103	0.009000	0.17119	0.500000	0.27589	0.471000	0.32888	0.942000	0.29017	1.422000	0.47177	0.297000	0.19635	ACA		PASS	0.448	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		31	69	31	69	---	---	---	---
PRG3	10394	broad.mit.edu	37	11	57146214	57146214	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr11:57146214C>G	ENST00000287143.2	-	4	556	c.447G>C	c.(445-447)caG>caC	p.Q149H		NM_006093.3	NP_006084.2	Q8TBJ4	LPPR1_HUMAN	proteoglycan 3	0					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.Q149H(1)		large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						TAGTGCAGCACTGAATGCGAT	0.502																																					Melanoma(154;1456 2519 19358 45229)	uc001njv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(445-447)CAG>CAC		proteoglycan 3 precursor							261.0	246.0	251.0					11																	57146214		2201	4296	6497	SO:0001583	missense	10394				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	g.chr11:57146214C>G	AF132209	CCDS7954.1	11q12.1	2008-02-05			ENSG00000156575	ENSG00000156575			9363	protein-coding gene	gene with protein product		606814				10318872, 11170744	Standard	NM_006093		Approved	MBPH	uc001njv.2	Q9Y2Y8	OTTHUMG00000167026	ENST00000287143.2:c.447G>C	11.37:g.57146214C>G	ENSP00000287143:p.Gln149His						p.Q149H	NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN			4	557	-			149			C-type lectin.		Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000287143.2	37	c.447G>C	CCDS7954.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902485	0.33628	.	.	ENSG00000156575	ENST00000287143	T	0.56611	0.45	5.27	-5.52	0.02560	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.447220	0.04226	N	0.334361	T	0.44850	0.1313	L	0.48362	1.52	0.09310	N	1	P	0.35612	0.512	B	0.37267	0.245	T	0.46020	-0.9221	10	0.39692	T	0.17	-0.0666	9.6213	0.39723	0.0:0.2065:0.5739:0.2196	.	149	Q9Y2Y8	PRG3_HUMAN	H	149	ENSP00000287143:Q149H	ENSP00000287143:Q149H	Q	-	3	2	PRG3	56902790	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.496000	0.02291	-1.374000	0.02131	0.561000	0.74099	CAG		PASS	0.502	PRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392467.1	NM_006093		8	491	8	491	---	---	---	---
CATSPER1	117144	broad.mit.edu	37	11	65786339	65786339	+	Silent	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr11:65786339C>T	ENST00000312106.5	-	10	2297	c.2160G>A	c.(2158-2160)ctG>ctA	p.L720L		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	720					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.L720L(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGAGCCGCTTCAGCATGGTGC	0.587																																						uc001ogt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2158-2160)CTG>CTA		sperm-associated cation channel 1							102.0	96.0	98.0					11																	65786339		2201	4296	6497	SO:0001819	synonymous_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65786339C>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.2160G>A	11.37:g.65786339C>T							p.L720L	NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN			10	2298	-			720			Cytoplasmic (Potential).		Q96P76	Silent	SNP	ENST00000312106.5	37	c.2160G>A	CCDS8127.1																																																																																				PASS	0.587	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		39	66	39	66	---	---	---	---
TMPRSS4	56649	broad.mit.edu	37	11	117978579	117978579	+	Silent	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr11:117978579G>A	ENST00000437212.3	+	6	745	c.531G>A	c.(529-531)cgG>cgA	p.R177R	TMPRSS4_ENST00000522307.1_Silent_p.R30R|TMPRSS4_ENST00000534111.1_Silent_p.R175R|TMPRSS4_ENST00000523251.1_Silent_p.R137R|TMPRSS4_ENST00000522824.1_Silent_p.R172R			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	177	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.		R -> Q (in dbSNP:rs1894176).		proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.R177R(1)		breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TTCGCATGCGGAACTCAAGTG	0.547																																						uc010rxo.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(529-531)CGG>CGA		transmembrane protease, serine 4 isoform 1							67.0	60.0	62.0					11																	117978579		2200	4296	6496	SO:0001819	synonymous_variant	56649				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117978579G>A	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.531G>A	11.37:g.117978579G>A						TMPRSS4_uc010rxp.1_Silent_p.R172R|TMPRSS4_uc010rxq.1_Silent_p.R30R|TMPRSS4_uc010rxr.1_Silent_p.R152R|TMPRSS4_uc010rxs.1_Silent_p.R137R|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Silent_p.R152R	p.R177R	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	6	822	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	177			Extracellular (Potential).|SRCR.		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Silent	SNP	ENST00000437212.3	37	c.531G>A	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	G	0.075	-1.194526	0.01594	.	.	ENSG00000137648	ENST00000517544	.	.	.	5.31	-0.277	0.12898	.	.	.	.	.	T	0.23886	0.0578	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.26503	-1.0101	4	.	.	.	.	4.816	0.13367	0.3502:0.1624:0.4874:0.0	.	.	.	.	K	144	.	.	E	+	1	0	TMPRSS4	117483789	0.000000	0.05858	0.038000	0.18304	0.014000	0.08584	-0.323000	0.07997	-0.086000	0.12550	0.585000	0.79938	GAA		PASS	0.547	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894		27	6	27	6	---	---	---	---
OR8A1	390275	broad.mit.edu	37	11	124440209	124440209	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr11:124440209A>G	ENST00000284287.3	+	1	317	c.245A>G	c.(244-246)aAt>aGt	p.N82S		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	82					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N82S(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TTTCTCAGCAATCTGTCACTC	0.493																																						uc010san.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(244-246)AAT>AGT		olfactory receptor, family 8, subfamily A,							184.0	166.0	172.0					11																	124440209		2201	4299	6500	SO:0001583	missense	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440209A>G	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.245A>G	11.37:g.124440209A>G	ENSP00000284287:p.Asn82Ser						p.N82S	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	245	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	82			Helical; Name=2; (Potential).		Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	c.245A>G	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	A	0.526	-0.860051	0.02610	.	.	ENSG00000196119	ENST00000284287	T	0.12774	2.65	4.94	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.133249	0.33180	N	0.005194	T	0.15435	0.0372	M	0.68728	2.09	0.27148	N	0.961487	B	0.14012	0.009	B	0.21360	0.034	T	0.18085	-1.0348	10	0.21540	T	0.41	.	10.3914	0.44171	0.9218:0.0:0.0782:0.0	.	82	Q8NGG7	OR8A1_HUMAN	S	82	ENSP00000284287:N82S	ENSP00000284287:N82S	N	+	2	0	OR8A1	123945419	0.000000	0.05858	0.346000	0.25655	0.121000	0.20230	0.970000	0.29383	0.894000	0.36317	0.477000	0.44152	AAT		PASS	0.493	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		4	151	4	151	---	---	---	---
MRPL51	51258	broad.mit.edu	37	12	6601442	6601442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:6601442G>A	ENST00000229238.3	-	3	843	c.382C>T	c.(382-384)Cga>Tga	p.R128*	NCAPD2_ENST00000315579.5_5'Flank|NCAPD2_ENST00000545962.1_5'Flank|MRPL51_ENST00000543703.1_Nonsense_Mutation_p.R32*|MRPL51_ENST00000543164.1_5'UTR	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	128					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.R128*(2)		kidney(2)|large_intestine(1)|lung(3)	6						CTCTTCTATCGAAACTTCCCA	0.438																																						uc001qom.2																			2	Substitution - Nonsense(2)		large_intestine(1)|lung(1)		0						c.(382-384)CGA>TGA		mitochondrial ribosomal protein L51 precursor							159.0	150.0	153.0					12																	6601442		2203	4300	6503	SO:0001587	stop_gained	51258				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr12:6601442G>A	AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"""Mitochondrial ribosomal proteins / large subunits"""	14044	protein-coding gene	gene with protein product		611855	"""mitochondrial ribosomal protein 64"""	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.382C>T	12.37:g.6601442G>A	ENSP00000229238:p.Arg128*					MRPL51_uc001qon.1_RNA|NCAPD2_uc009zen.1_5'Flank|NCAPD2_uc001qoo.2_5'Flank|NCAPD2_uc010sfd.1_5'Flank	p.R128*	NM_016497	NP_057581	Q4U2R6	RM51_HUMAN			3	551	-			128					Q96Q57|Q9BQ36|Q9P0N7	Nonsense_Mutation	SNP	ENST00000229238.3	37	c.382C>T	CCDS8547.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097137	0.76870	.	.	ENSG00000111639	ENST00000229238	.	.	.	5.32	3.37	0.38596	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.36528	D	0.870564	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.776	13.4714	0.61283	0.0:0.0:0.7058:0.2942	.	.	.	.	X	128	.	ENSP00000229238:R128X	R	-	1	2	MRPL51	6471703	1.000000	0.71417	0.134000	0.22075	0.010000	0.07245	3.864000	0.56024	0.519000	0.28406	0.462000	0.41574	CGA		PASS	0.438	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1	NM_016497		62	210	62	210	---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	9009779	9009779	+	Silent	SNP	C	C	A	rs56179521	byFrequency	TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:9009779C>A	ENST00000299698.7	+	24	3048	c.2868C>A	c.(2866-2868)gcC>gcA	p.A956A	A2ML1_ENST00000539547.1_Silent_p.A465A	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.A956A(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGGGCACAGCCCTGCAGAACC	0.507																																						uc001quz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(2866-2868)GCC>GCA		alpha-2-macroglobulin-like 1 precursor							103.0	102.0	103.0					12																	9009779		1948	4141	6089	SO:0001819	synonymous_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9009779C>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2868C>A	12.37:g.9009779C>A						A2ML1_uc001qva.1_Silent_p.A536A|A2ML1_uc010sgm.1_Silent_p.A456A	p.A956A	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			24	2966	+			800						Silent	SNP	ENST00000299698.7	37	c.2868C>A	CCDS8596.2																																																																																				PASS	0.507	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		33	110	33	110	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13720031	13720031	+	Silent	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:13720031G>A	ENST00000609686.1	-	12	2735	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	842					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.F842F(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACTGCCAATAGAAAAGGTGTT	0.498																																						uc001rbt.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(2524-2526)TTC>TTT		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						126.0	106.0	113.0					12																	13720031		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13720031G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2526C>T	12.37:g.13720031G>A							p.F842F	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			12	2705	-			842			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.2526C>T	CCDS8662.1																																																																																				PASS	0.498	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			72	47	72	47	---	---	---	---
GYS2	2998	broad.mit.edu	37	12	21690000	21690000	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:21690000C>T	ENST00000261195.2	-	16	2254	c.2000G>A	c.(1999-2001)aGa>aAa	p.R667K		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	667					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.R667K(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTCATCGTATCTCTCATCCTC	0.483																																					Colon(149;9 1820 3690 10544 50424)	uc001rfb.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(1999-2001)AGA>AAA		glycogen synthase 2							205.0	142.0	163.0					12																	21690000		2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21690000C>T		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.2000G>A	12.37:g.21690000C>T	ENSP00000261195:p.Arg667Lys						p.R667K	NM_021957	NP_068776	P54840	GYS2_HUMAN			16	2255	-			667					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.2000G>A	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454383	0.63290	.	.	ENSG00000111713	ENST00000261195	T	0.62788	-0.0	4.93	4.93	0.64822	.	0.190899	0.44902	D	0.000403	T	0.37812	0.1017	N	0.08118	0	0.37557	D	0.918905	B	0.32918	0.39	B	0.27380	0.079	T	0.46830	-0.9163	10	0.02654	T	1	-15.4897	18.343	0.90312	0.0:1.0:0.0:0.0	.	667	P54840	GYS2_HUMAN	K	667	ENSP00000261195:R667K	ENSP00000261195:R667K	R	-	2	0	GYS2	21581267	0.780000	0.28664	0.050000	0.19076	0.764000	0.43329	3.777000	0.55364	2.539000	0.85634	0.655000	0.94253	AGA		PASS	0.483	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		92	56	92	56	---	---	---	---
SOX5	6660	broad.mit.edu	37	12	23998945	23998945	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:23998945C>T	ENST00000451604.2	-	3	554	c.453G>A	c.(451-453)atG>atA	p.M151I	SOX5_ENST00000309359.1_Missense_Mutation_p.M138I|SOX5_ENST00000541536.1_Missense_Mutation_p.M138I|SOX5_ENST00000541847.1_Missense_Mutation_p.M141I|SOX5_ENST00000381381.2_Missense_Mutation_p.M138I|SOX5_ENST00000546136.1_Missense_Mutation_p.M138I|SOX5_ENST00000537393.1_Missense_Mutation_p.M116I|SOX5_ENST00000545921.1_Missense_Mutation_p.M141I|SOX5_ENST00000441133.2_Missense_Mutation_p.M116I			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	151					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.M151I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TGAGCTCTTCCATTTTCCTCT	0.443																																						uc001rfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(1)	6						c.(451-453)ATG>ATA		SRY (sex determining region Y)-box 5 isoform a							116.0	106.0	109.0					12																	23998945		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23998945C>T	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.453G>A	12.37:g.23998945C>T	ENSP00000398273:p.Met151Ile					SOX5_uc001rfx.2_Missense_Mutation_p.M138I|SOX5_uc001rfy.2_Missense_Mutation_p.M138I|SOX5_uc010siv.1_Missense_Mutation_p.M138I|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.M103I|SOX5_uc001rga.2_Missense_Mutation_p.M116I	p.M151I	NM_006940	NP_008871	P35711	SOX5_HUMAN			3	555	-			151					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.453G>A	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155817	0.94686	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.96992	-4.17;-4.17;-4.2;-4.17;-4.16;-4.2;-4.17	5.79	5.79	0.91817	.	0.040904	0.85682	D	0.000000	D	0.96297	0.8792	M	0.67953	2.075	0.80722	D	1	P;B;B;B	0.46859	0.885;0.371;0.048;0.255	P;B;B;B	0.45577	0.486;0.157;0.024;0.155	D	0.95912	0.8924	10	0.49607	T	0.09	.	20.0349	0.97554	0.0:1.0:0.0:0.0	.	116;116;138;151	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	I	138;138;138;151;103;116;138;141;141;116;138	ENSP00000437487:M138I;ENSP00000308927:M138I;ENSP00000370788:M138I;ENSP00000398273:M151I;ENSP00000439832:M116I;ENSP00000441973:M138I;ENSP00000443520:M141I	ENSP00000308927:M138I	M	-	3	0	SOX5	23890212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.474000	0.81024	2.744000	0.94065	0.650000	0.86243	ATG		PASS	0.443	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		37	88	37	88	---	---	---	---
NELL2	4753	broad.mit.edu	37	12	44917246	44917246	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:44917246C>A	ENST00000429094.2	-	17	2330	c.1826G>T	c.(1825-1827)gGg>gTg	p.G609V	NELL2_ENST00000437801.2_Missense_Mutation_p.G659V|NELL2_ENST00000551601.1_Missense_Mutation_p.G561V|NELL2_ENST00000549027.1_Missense_Mutation_p.G608V|NELL2_ENST00000333837.4_Missense_Mutation_p.G632V|NELL2_ENST00000452445.2_Missense_Mutation_p.G609V|NELL2_ENST00000395487.2_Missense_Mutation_p.G608V	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	609	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G659V(1)|p.G609V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCTGTGCCTCCCGGTCCCACA	0.448																																						uc001rog.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1825-1827)GGG>GTG		NEL-like protein 2 isoform b precursor							84.0	80.0	81.0					12																	44917246		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:44917246C>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1826G>T	12.37:g.44917246C>A	ENSP00000390680:p.Gly609Val					NELL2_uc001rof.3_Missense_Mutation_p.G608V|NELL2_uc001roh.2_Missense_Mutation_p.G609V|NELL2_uc009zkd.2_Missense_Mutation_p.G561V|NELL2_uc010skz.1_Missense_Mutation_p.G659V|NELL2_uc010sla.1_Missense_Mutation_p.G632V|NELL2_uc001roi.1_Missense_Mutation_p.G609V	p.G609V	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	17	2421	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	609			EGF-like 6; calcium-binding (Potential).		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.1826G>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808198	0.90707	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	D;D;D;D;D;D;D	0.95554	-1.59;-1.59;-3.14;-1.59;-1.59;-3.74;-1.59	5.46	5.46	0.80206	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97614	0.9218	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.984;0.997;0.993;0.979	D;P;D;P;P	0.87578	0.998;0.616;0.945;0.844;0.906	D	0.96987	0.9719	10	0.36615	T	0.2	-13.8761	19.3135	0.94202	0.0:1.0:0.0:0.0	.	632;659;561;609;608	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	V	608;609;561;609;608;632;659	ENSP00000378866:G608V;ENSP00000390680:G609V;ENSP00000449332:G561V;ENSP00000394612:G609V;ENSP00000447927:G608V;ENSP00000327988:G632V;ENSP00000416341:G659V	ENSP00000327988:G632V	G	-	2	0	NELL2	43203513	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.065000	0.71176	2.545000	0.85829	0.643000	0.83706	GGG		PASS	0.448	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		70	55	70	55	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49424703	49424703	+	Silent	SNP	G	G	A	rs201119371	byFrequency	TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:49424703G>A	ENST00000301067.7	-	40	13643	c.13644C>T	c.(13642-13644)agC>agT	p.S4548S		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4548					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S4278S(1)|p.S4548S(1)									GCAAGGCCTCGCTGGCCCTGA	0.627													G|||	5	0.000998403	0.0	0.0	5008	,	,		17904	0.0		0.001	False		,,,				2504	0.0041					uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - coding silent(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(13642-13644)AGC>AGT		myeloid/lymphoid or mixed-lineage leukemia 2		G		3,4121		0,3,2059	40.0	44.0	43.0		13644	2.3	1.0	12		43	50,8330		0,50,4140	no	coding-synonymous	MLL2	NM_003482.3		0,53,6199	AA,AG,GG		0.5967,0.0727,0.4239		4548/5538	49424703	53,12451	2062	4190	6252	SO:0001819	synonymous_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49424703G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13644C>T	12.37:g.49424703G>A		HNSCC(34;0.089)					p.S4548S	NM_003482	NP_003473	O14686	MLL2_HUMAN			40	13644	-			4548					O14687	Silent	SNP	ENST00000301067.7	37	c.13644C>T	CCDS44873.1																																																																																				PASS	0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			28	11	28	11	---	---	---	---
TMPRSS12	283471	broad.mit.edu	37	12	51252600	51252600	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:51252600C>T	ENST00000398458.3	+	3	448	c.416C>T	c.(415-417)aCt>aTt	p.T139I	TMPRSS12_ENST00000551456.1_Missense_Mutation_p.T139I	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	139	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.T139I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GTGATTGGAACTAATAATATA	0.279																																						uc001rwx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(415-417)ACT>ATT		transmembrane protease, serine 12 precursor							32.0	29.0	30.0					12																	51252600		1814	4073	5887	SO:0001583	missense	283471				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr12:51252600C>T	BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.416C>T	12.37:g.51252600C>T	ENSP00000381476:p.Thr139Ile					TMPRSS12_uc001rwy.2_Missense_Mutation_p.T139I	p.T139I	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN			3	463	+			139			Peptidase S1.|Extracellular (Potential).		B9ZVX2	Missense_Mutation	SNP	ENST00000398458.3	37	c.416C>T	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941929	0.34283	.	.	ENSG00000186452	ENST00000551456;ENST00000398458	D;D	0.88975	-2.45;-2.45	5.75	3.67	0.42095	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.338236	0.25211	N	0.032319	T	0.77844	0.4191	L	0.31065	0.9	0.33056	D	0.533426	B;B	0.22909	0.041;0.077	B;B	0.24541	0.054;0.038	T	0.69826	-0.5040	10	0.14656	T	0.56	-24.4149	3.6713	0.08275	0.0:0.5617:0.2415:0.1968	.	139;139	F8WBX2;Q86WS5	.;TMPSC_HUMAN	I	139	ENSP00000447259:T139I;ENSP00000381476:T139I	ENSP00000381476:T139I	T	+	2	0	TMPRSS12	49538867	1.000000	0.71417	0.998000	0.56505	0.899000	0.52679	1.924000	0.40065	1.406000	0.46857	0.557000	0.71058	ACT		PASS	0.279	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559		6	19	6	19	---	---	---	---
POU6F1	5463	broad.mit.edu	37	12	51584082	51584082	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:51584082C>T	ENST00000389243.4	-	11	1793	c.854G>A	c.(853-855)cGg>cAg	p.R285Q	POU6F1_ENST00000550824.1_Missense_Mutation_p.R285Q|POU6F1_ENST00000333640.10_Missense_Mutation_p.R285Q			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	285					brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R285Q(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						CGTCTGGCGCCGATTGCAGAA	0.542																																						uc001rxy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(853-855)CGG>CAG		POU class 6 homeobox 1							100.0	88.0	92.0					12																	51584082		2203	4300	6503	SO:0001583	missense	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51584082C>T	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.854G>A	12.37:g.51584082C>T	ENSP00000373895:p.Arg285Gln					POU6F1_uc001rxz.2_Missense_Mutation_p.R285Q|POU6F1_uc001rya.2_Missense_Mutation_p.R285Q	p.R285Q	NM_002702	NP_002693	Q14863	PO6F1_HUMAN			5	1046	-			285			Homeobox.		Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	ENST00000389243.4	37	c.854G>A	CCDS31803.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370657	0.95900	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824	D;D;D	0.97378	-4.36;-4.36;-4.36	5.28	5.28	0.74379	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97867	0.9299	M	0.65677	2.01	0.58432	D	0.999999	D	0.63880	0.993	P	0.61722	0.893	D	0.98755	1.0722	10	0.87932	D	0	.	17.6915	0.88269	0.0:1.0:0.0:0.0	.	285	Q14863	PO6F1_HUMAN	Q	285	ENSP00000373895:R285Q;ENSP00000330190:R285Q;ENSP00000448389:R285Q	ENSP00000330190:R285Q	R	-	2	0	POU6F1	49870349	0.915000	0.31059	1.000000	0.80357	0.997000	0.91878	1.927000	0.40094	2.472000	0.83506	0.561000	0.74099	CGG		PASS	0.542	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702		57	57	57	57	---	---	---	---
KRT72	140807	broad.mit.edu	37	12	52992806	52992806	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:52992806C>A	ENST00000537672.2	-	2	527	c.517G>T	c.(517-519)Gag>Tag	p.E173*	RP11-641A6.2_ENST00000551089.1_RNA|KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000354310.4_Nonsense_Mutation_p.E173*|KRT72_ENST00000293745.2_Nonsense_Mutation_p.E173*	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	173	Linker 1.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.E173*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TAAATGGGCTCCAGGTTCTTC	0.562																																						uc001sar.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(517-519)GAG>TAG		keratin 72 isoform 1							156.0	143.0	147.0					12																	52992806		2203	4300	6503	SO:0001587	stop_gained	140807					keratin filament	structural molecule activity	g.chr12:52992806C>A	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.517G>T	12.37:g.52992806C>A	ENSP00000441160:p.Glu173*					KRT72_uc001saq.2_Nonsense_Mutation_p.E173*|KRT72_uc010sns.1_Nonsense_Mutation_p.E173*|KRT72_uc010snt.1_5'UTR	p.E173*	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	2	603	-			173			Linker 1.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Nonsense_Mutation	SNP	ENST00000537672.2	37	c.517G>T	CCDS8833.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.546859|4.546859	0.86022|0.86022	.|.	.|.	ENSG00000170486|ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310|ENST00000549979	.|.	.|.	.|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.000000|.	0.51477|.	D|.	0.000084|.	.|T	.|0.62612	.|0.2442	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58847	.|-0.7564	.|4	0.87932|.	D|.	0|.	.|.	11.3207|11.3207	0.49419|0.49419	0.0:0.8563:0.0:0.1437|0.0:0.8563:0.0:0.1437	.|.	.|.	.|.	.|.	X|V	173|169	.|.	ENSP00000293745:E173X|.	E|G	-|-	1|2	0|0	KRT72|KRT72	51279073|51279073	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	4.933000|4.933000	0.63484|0.63484	2.838000|2.838000	0.97847|0.97847	0.561000|0.561000	0.74099|0.74099	GAG|GGA		PASS	0.562	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		6	198	6	198	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55615466	55615466	+	Missense_Mutation	SNP	C	C	T	rs138358769		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:55615466C>T	ENST00000326258.1	+	1	658	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R220C(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TTCCTACACCCGCATTATCAT	0.458																																						uc010spf.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(658-660)CGC>TGC		olfactory receptor, family 10, subfamily A,		C	CYS/ARG	0,4406		0,0,2203	185.0	142.0	157.0		658	2.2	0.0	12	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR10A7	NM_001005280.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	220/317	55615466	1,13005	2203	4300	6503	SO:0001583	missense	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615466C>T	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.658C>T	12.37:g.55615466C>T	ENSP00000326718:p.Arg220Cys						p.R220C	NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN			1	658	+			220			Cytoplasmic (Potential).		Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	c.658C>T	CCDS31815.1	.	.	.	.	.	.	.	.	.	.	c	6.759	0.508945	0.12883	0.0	1.16E-4	ENSG00000179919	ENST00000326258	T	0.00099	8.73	4.08	2.25	0.28309	GPCR, rhodopsin-like superfamily (1);	0.343534	0.20973	N	0.082345	T	0.00073	0.0002	N	0.12746	0.255	0.09310	N	1	B	0.27559	0.181	B	0.26310	0.068	T	0.03706	-1.1011	10	0.32370	T	0.25	.	7.2382	0.26082	0.0:0.6365:0.0:0.3635	.	220	Q8NGE5	O10A7_HUMAN	C	220	ENSP00000326718:R220C	ENSP00000326718:R220C	R	+	1	0	OR10A7	53901733	0.000000	0.05858	0.028000	0.17463	0.640000	0.38277	-2.056000	0.01396	0.498000	0.27948	0.637000	0.83480	CGC		PASS	0.458	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			27	60	27	60	---	---	---	---
CNPY2	10330	broad.mit.edu	37	12	56711394	56711394	+	5'Flank	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:56711394C>A	ENST00000273308.4	-	0	0				RP11-977G19.10_ENST00000549318.1_5'Flank|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.11_ENST00000549860.1_RNA|PAN2_ENST00000548043.1_Nonstop_Mutation_p.*1203L|PAN2_ENST00000425394.2_Nonstop_Mutation_p.*1203L|RP11-977G19.11_ENST00000549565.1_RNA|PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000257931.5_Nonstop_Mutation_p.*1202L|PAN2_ENST00000440411.3_Nonstop_Mutation_p.*1199L	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2						negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)		p.*1199L(1)		large_intestine(2)|lung(2)	4						GAAGGGTAGTCAGAGCGCCAG	0.488																																						uc001skx.2																			1	Nonstop extension(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(3607-3609)TGA>TTA		PAN2 polyA specific ribonuclease subunit homolog							87.0	82.0	84.0					12																	56711394		2203	4300	6503	SO:0001631	upstream_gene_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56711394C>A	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330		12.37:g.56711394C>A	Exception_encountered					CNPY2_uc001sku.1_5'Flank|CNPY2_uc001skv.2_5'Flank|PAN2_uc001skw.2_Nonstop_Mutation_p.*351L|PAN2_uc001skz.2_Nonstop_Mutation_p.*1202L|PAN2_uc001sky.2_Nonstop_Mutation_p.*1199L	p.*1203L	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			26	3981	-			1203					B2R7B9|Q9UHE9	Nonstop_Mutation	SNP	ENST00000273308.4	37	c.3608G>T	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387017	0.61956	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	.	.	.	4.54	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8435	0.35157	0.0:0.8972:0.0:0.1028	.	.	.	.	L	1203;1199;1202;1203	.	.	X	-	2	2	PAN2	54997661	1.000000	0.71417	0.993000	0.49108	0.782000	0.44232	4.599000	0.61076	1.280000	0.44463	0.557000	0.71058	TGA		PASS	0.488	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		15	12	15	12	---	---	---	---
PRIM1	5557	broad.mit.edu	37	12	57144981	57144981	+	Splice_Site	SNP	T	T	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:57144981T>A	ENST00000338193.6	-	2	140		c.e2-2		PRIM1_ENST00000552408.1_Splice_Site|HSD17B6_ENST00000554643.1_5'Flank|HSD17B6_ENST00000555159.1_5'Flank|HSD17B6_ENST00000554150.1_5'Flank|HSD17B6_ENST00000555805.1_5'Flank	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.?(1)		kidney(1)|lung(6)|prostate(1)	8						TCTTTATCACTGCAAAATAAA	0.318																																						uc001smd.2																			1	Unknown(1)		lung(1)		0						c.e2-1		DNA primase polypeptide 1							59.0	50.0	53.0					12																	57144981		1809	4049	5858	SO:0001630	splice_region_variant	5557				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding	g.chr12:57144981T>A	BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.104-2A>T	12.37:g.57144981T>A						PRIM1_uc001sme.1_Splice_Site|PRIM1_uc009zoz.1_Splice_Site|PRIM1_uc001smf.2_Splice_Site_p.V35_splice	p.V35_splice	NM_000946	NP_000937	P49642	PRI1_HUMAN			2	168	-									Splice_Site	SNP	ENST00000338193.6	37	c.104_splice	CCDS44926.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157217	0.78114	.	.	ENSG00000198056	ENST00000537418;ENST00000338193;ENST00000550770	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7364	0.62819	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRIM1	55431248	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.639000	0.83342	1.956000	0.56807	0.454000	0.30748	.		PASS	0.318	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406956.1	NM_000946	Intron	3	5	3	5	---	---	---	---
IRAK3	11213	broad.mit.edu	37	12	66638391	66638391	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:66638391T>A	ENST00000261233.4	+	9	1434	c.1013T>A	c.(1012-1014)cTg>cAg	p.L338Q	IRAK3_ENST00000457197.2_Missense_Mutation_p.L277Q	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3									p.L338Q(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AGTAAACATCTGTGGTACATG	0.428																																						uc001sth.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8						c.(1012-1014)CTG>CAG		interleukin-1 receptor-associated kinase 3							133.0	121.0	125.0					12																	66638391		2203	4300	6503	SO:0001583	missense	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66638391T>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1013T>A	12.37:g.66638391T>A	ENSP00000261233:p.Leu338Gln					IRAK3_uc010ssy.1_Missense_Mutation_p.L277Q	p.L338Q	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	9	1115	+			338			Protein kinase.			Missense_Mutation	SNP	ENST00000261233.4	37	c.1013T>A	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.122457	0.56613	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.37058	1.22;1.22	5.36	5.36	0.76844	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.096084	0.42964	D	0.000627	T	0.54431	0.1858	M	0.64080	1.96	0.48040	D	0.999576	D;D	0.89917	1.0;1.0	D;D	0.74348	0.971;0.983	T	0.54057	-0.8350	9	.	.	.	-5.2401	11.7832	0.52026	0.0:0.0:0.0:1.0	.	277;338	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	Q	338;277	ENSP00000261233:L338Q;ENSP00000409852:L277Q	.	L	+	2	0	IRAK3	64924658	0.999000	0.42202	0.996000	0.52242	0.342000	0.28953	3.806000	0.55583	2.042000	0.60477	0.533000	0.62120	CTG		PASS	0.428	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			9	141	9	141	---	---	---	---
BEST3	144453	broad.mit.edu	37	12	70048959	70048959	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:70048959C>T	ENST00000330891.5	-	10	1961	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	BEST3_ENST00000553096.1_Missense_Mutation_p.E473K|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.E366K	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	579					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.E579K(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGGTCTTCTTCACAGTTGAAT	0.537																																						uc001svg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1735-1737)GAA>AAA		vitelliform macular dystrophy 2-like 3 isoform							48.0	46.0	47.0					12																	70048959		1845	4086	5931	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70048959C>T	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1735G>A	12.37:g.70048959C>T	ENSP00000332413:p.Glu579Lys					BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.E366K|BEST3_uc010stm.1_Missense_Mutation_p.E473K	p.E579K	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1962	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		579			Cytoplasmic (Potential).		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.1735G>A	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475428	0.43942	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97924	-4.28;-4.61;-4.58	5.53	4.62	0.57501	.	1.995060	0.02871	N	0.131592	D	0.94298	0.8168	L	0.27053	0.805	0.58432	D	0.999997	B;P	0.35433	0.361;0.501	B;B	0.25140	0.036;0.058	T	0.78265	-0.2271	10	0.07990	T	0.79	-2.2736	14.1599	0.65441	0.0:0.8499:0.1501:0.0	.	579;366	Q8N1M1;B5MDI8	BEST3_HUMAN;.	K	366;579;473	ENSP00000433213:E366K;ENSP00000332413:E579K;ENSP00000449548:E473K	ENSP00000332413:E579K	E	-	1	0	BEST3	68335226	0.000000	0.05858	0.040000	0.18447	0.069000	0.16628	0.649000	0.24843	1.286000	0.44565	0.563000	0.77884	GAA		PASS	0.537	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		54	30	54	30	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70934690	70934690	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:70934690T>C	ENST00000261266.5	-	21	4917	c.4888A>G	c.(4888-4890)Att>Gtt	p.I1630V	RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000334414.6_Missense_Mutation_p.I1848V|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000451516.2_Missense_Mutation_p.I1540V|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.I1540V|PTPRB_ENST00000550857.1_Missense_Mutation_p.I1540V|PTPRB_ENST00000550358.1_Missense_Mutation_p.I1760V	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1630					angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.I1630V(2)|p.I1848V(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCATGCCAATTAAAAACAGA	0.413																																						uc001swb.3																			3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(4888-4890)ATT>GTT		protein tyrosine phosphatase, receptor type, B							70.0	65.0	66.0					12																	70934690		1916	4142	6058	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70934690T>C	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4888A>G	12.37:g.70934690T>C	ENSP00000261266:p.Ile1630Val					PTPRB_uc010sto.1_Missense_Mutation_p.I1540V|PTPRB_uc010stp.1_Missense_Mutation_p.I1540V|PTPRB_uc001swc.3_Missense_Mutation_p.I1848V|PTPRB_uc001swa.3_Missense_Mutation_p.I1760V	p.I1630V	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		21	4918	-	Renal(347;0.236)		1630			Helical; (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.4888A>G	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.214126	0.58452	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.03242	4.0;4.0;4.0;4.06;4.0;4.05	6.02	6.02	0.97574	.	0.047232	0.85682	D	0.000000	T	0.06280	0.0162	L	0.54323	1.7	0.40485	D	0.980485	B;B;P;B;P	0.41848	0.259;0.259;0.763;0.431;0.504	B;B;B;B;B	0.38264	0.269;0.269;0.269;0.114;0.269	T	0.14420	-1.0473	10	0.62326	D	0.03	.	15.1157	0.72401	0.0:0.0:0.0:1.0	.	1540;1540;1848;1630;1760	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	V	1848;1540;1760;1540;1540;1630	ENSP00000334928:I1848V;ENSP00000393028:I1540V;ENSP00000448058:I1760V;ENSP00000438927:I1540V;ENSP00000447302:I1540V;ENSP00000261266:I1630V	ENSP00000261266:I1630V	I	-	1	0	PTPRB	69220957	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.252000	0.51461	2.311000	0.77944	0.533000	0.62120	ATT		PASS	0.413	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			3	15	3	15	---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101336160	101336160	+	Silent	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:101336160G>A	ENST00000392977.3	+	5	513	c.303G>A	c.(301-303)gtG>gtA	p.V101V	ANO4_ENST00000538618.1_Silent_p.V267V|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_Silent_p.V66V			Q32M45	ANO4_HUMAN	anoctamin 4	101					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.V66V(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGCAGACAGTGCCAGAAAGAA	0.353										HNSCC(74;0.22)																												uc010svm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)	6						c.(301-303)GTG>GTA		anoctamin 4							102.0	101.0	102.0					12																	101336160		2203	4300	6503	SO:0001819	synonymous_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101336160G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.303G>A	12.37:g.101336160G>A		HNSCC(74;0.22)				ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Silent_p.V66V|ANO4_uc001thx.2_Silent_p.V101V	p.V101V	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			5	875	+			101			Extracellular (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	ENST00000392977.3	37	c.303G>A																																																																																					PASS	0.353	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		77	59	77	59	---	---	---	---
MYBPC1	4604	broad.mit.edu	37	12	102064101	102064101	+	Missense_Mutation	SNP	C	C	G	rs370583464		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:102064101C>G	ENST00000550270.1	+	23	2506	c.2506C>G	c.(2506-2508)Cct>Gct	p.P836A	MYBPC1_ENST00000392934.3_Missense_Mutation_p.P805A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.P799A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.P806A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P818A|MYBPC1_ENST00000549145.1_Missense_Mutation_p.P849A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P836A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P836A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P843A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.P843A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.P719A|MYBPC1_ENST00000545503.2_Missense_Mutation_p.P818A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.P792A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P836A|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P804A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	836					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.P836A(1)|p.P843A(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCTCTCAGAACCTCCAAAGAT	0.438																																						uc001tii.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(2506-2508)CCT>GCT		myosin binding protein C, slow type isoform 3							185.0	187.0	186.0					12																	102064101		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102064101C>G		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2506C>G	12.37:g.102064101C>G	ENSP00000449702:p.Pro836Ala					MYBPC1_uc001tig.2_Missense_Mutation_p.P843A|MYBPC1_uc010svq.1_Missense_Mutation_p.P805A|MYBPC1_uc001tih.2_Missense_Mutation_p.P843A|MYBPC1_uc001tij.2_Missense_Mutation_p.P818A|MYBPC1_uc010svr.1_Missense_Mutation_p.P818A|MYBPC1_uc010svs.1_Missense_Mutation_p.P836A|MYBPC1_uc010svt.1_Missense_Mutation_p.P806A|MYBPC1_uc010svu.1_Missense_Mutation_p.P799A|MYBPC1_uc001tik.2_Missense_Mutation_p.P792A|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR	p.P836A	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			23	2608	+			836					B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.2506C>G	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	C	9.849	1.193256	0.22037	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59772	0.28;0.33;0.31;0.32;0.27;0.25;0.29;0.3;0.28;0.27;0.31;0.28;0.24;0.31;0.32	5.79	0.703	0.18116	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.401453	0.21186	N	0.078737	T	0.47040	0.1424	N	0.26162	0.8	0.52099	D	0.999947	B;B;B;B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.17098	0.017;0.0;0.0;0.0;0.001;0.0;0.002;0.001;0.001;0.001	T	0.30504	-0.9976	10	0.33940	T	0.23	.	20.2228	0.98330	0.0:0.441:0.559:0.0	.	799;806;836;818;805;792;818;836;843;843	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	A	792;836;836;836;805;804;843;849;818;818;799;806;843;719;836	ENSP00000448175:P792A;ENSP00000400908:P836A;ENSP00000388989:P836A;ENSP00000353822:P836A;ENSP00000376665:P805A;ENSP00000447362:P804A;ENSP00000354845:P843A;ENSP00000447660:P849A;ENSP00000447900:P818A;ENSP00000440034:P818A;ENSP00000446128:P799A;ENSP00000442847:P806A;ENSP00000354849:P843A;ENSP00000447116:P719A;ENSP00000449702:P836A	ENSP00000353822:P836A	P	+	1	0	MYBPC1	100588232	0.996000	0.38824	0.993000	0.49108	0.910000	0.53928	0.531000	0.23052	-0.131000	0.11578	-0.176000	0.13171	CCT		PASS	0.438	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			43	181	43	181	---	---	---	---
CCDC63	160762	broad.mit.edu	37	12	111342414	111342414	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:111342414C>A	ENST00000308208.5	+	11	1607	c.1365C>A	c.(1363-1365)aaC>aaA	p.N455K	CCDC63_ENST00000545036.1_Missense_Mutation_p.N415K|CCDC63_ENST00000552694.1_Missense_Mutation_p.N376K	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	455								p.N455K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGAAGACCAACGACCTGCTGC	0.597																																						uc001trv.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|pancreas(1)	8						c.(1363-1365)AAC>AAA		coiled-coil domain containing 63							78.0	78.0	78.0					12																	111342414		2203	4300	6503	SO:0001583	missense	160762							g.chr12:111342414C>A	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1365C>A	12.37:g.111342414C>A	ENSP00000312399:p.Asn455Lys					CCDC63_uc010sye.1_Missense_Mutation_p.N415K|CCDC63_uc001trw.1_Missense_Mutation_p.N370K	p.N455K	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN			11	1560	+			455					B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	c.1365C>A	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233543	0.58886	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.52983	0.64;0.64;0.64	4.99	-2.97	0.05530	.	0.255351	0.43747	D	0.000534	T	0.58495	0.2126	M	0.74647	2.275	0.28631	N	0.907659	D	0.61697	0.99	D	0.63488	0.915	T	0.57539	-0.7794	10	0.41790	T	0.15	.	10.6079	0.45404	0.0:0.4286:0.0:0.5714	.	455	Q8NA47	CCD63_HUMAN	K	415;455;376	ENSP00000445881:N415K;ENSP00000312399:N455K;ENSP00000450217:N376K	ENSP00000312399:N455K	N	+	3	2	CCDC63	109826797	0.000000	0.05858	0.905000	0.35620	0.806000	0.45545	-4.911000	0.00171	-0.958000	0.03622	-1.551000	0.00897	AAC		PASS	0.597	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		27	91	27	91	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112622092	112622092	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:112622092C>T	ENST00000430131.2	-	60	10557	c.9412G>A	c.(9412-9414)Gag>Aag	p.E3138K	HECTD4_ENST00000550722.1_Missense_Mutation_p.E3414K|HECTD4_ENST00000377560.5_Missense_Mutation_p.E3388K			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3138					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E3388K(1)|p.E3138K(1)									GAGGCCGTCTCTGCATTGTCC	0.667																																						uc009zwc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(9412-9414)GAG>AAG		chromosome 12 open reading frame 51							42.0	50.0	47.0					12																	112622092		1972	4161	6133	SO:0001583	missense	283450							g.chr12:112622092C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9412G>A	12.37:g.112622092C>T	ENSP00000404379:p.Glu3138Lys						p.E3138K	NM_001109662	NP_001103132					54	9430	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.9412G>A		.	.	.	.	.	.	.	.	.	.	C	17.26	3.343588	0.61073	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.51071	0.72;0.73;0.72	5.4	5.4	0.78164	.	.	.	.	.	T	0.37571	0.1008	N	0.24115	0.695	0.58432	D	0.999991	B	0.32918	0.39	B	0.27076	0.076	T	0.36138	-0.9760	9	0.87932	D	0	.	19.5504	0.95315	0.0:1.0:0.0:0.0	.	3138	Q9Y4D8	K0614_HUMAN	K	3388;3138;3414	ENSP00000366783:E3388K;ENSP00000404379:E3138K;ENSP00000449784:E3414K	ENSP00000366783:E3388K	E	-	1	0	C12orf51	111106475	1.000000	0.71417	0.896000	0.35187	0.862000	0.49288	7.000000	0.76290	2.688000	0.91661	0.655000	0.94253	GAG		PASS	0.667	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		23	67	23	67	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124397757	124397757	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:124397757C>A	ENST00000409039.3	+	59	9918	c.9893C>A	c.(9892-9894)gCc>gAc	p.A3298D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3298	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A3298D(1)|p.A1890D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAATATGAGGCCGCCATACTG	0.502																																						uc001uft.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(9892-9894)GCC>GAC		dynein, axonemal, heavy chain 10							33.0	35.0	34.0					12																	124397757		1891	4087	5978	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124397757C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9893C>A	12.37:g.124397757C>A	ENSP00000386770:p.Ala3298Asp						p.A3298D	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	59	9918	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3298			Potential.|Stalk (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.9893C>A	CCDS9255.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.947|1.947	-0.442149|-0.442149	0.04604|0.04604	.|.	.|.	ENSG00000197653|ENSG00000197653	ENST00000409039|ENST00000540041	T|.	0.74209|.	-0.82|.	5.43|5.43	4.53|4.53	0.55603|0.55603	Dynein heavy chain, coiled coil stalk (1);|.	0.349613|.	0.29431|.	N|.	0.012174|.	T|T	0.50650|0.50650	0.1628|0.1628	N|N	0.25144|0.25144	0.715|0.715	0.38609|0.38609	D|D	0.950846|0.950846	B|.	0.14012|.	0.009|.	B|.	0.17979|.	0.02|.	T|T	0.50841|0.50841	-0.8780|-0.8780	10|5	0.21540|.	T|.	0.41|.	.|.	14.1285|14.1285	0.65238|0.65238	0.2874:0.7126:0.0:0.0|0.2874:0.7126:0.0:0.0	.|.	3298|.	Q8IVF4|.	DYH10_HUMAN|.	D|T	3298|226	ENSP00000386770:A3298D|.	ENSP00000386770:A3298D|.	A|P	+|+	2|1	0|0	DNAH10|DNAH10	122963710|122963710	0.755000|0.755000	0.28372|0.28372	0.869000|0.869000	0.34112|0.34112	0.029000|0.029000	0.11900|0.11900	1.526000|1.526000	0.35964|0.35964	1.261000|1.261000	0.44149|0.44149	-0.181000|-0.181000	0.13052|0.13052	GCC|CCG		PASS	0.502	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			14	4	14	4	---	---	---	---
SCARB1	949	broad.mit.edu	37	12	125294743	125294743	+	Silent	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:125294743C>T	ENST00000415380.2	-	6	944	c.819G>A	c.(817-819)gaG>gaA	p.E273E	SCARB1_ENST00000540495.1_Silent_p.E236E|SCARB1_ENST00000376788.1_Silent_p.E173E|SCARB1_ENST00000546215.1_Silent_p.E273E|SCARB1_ENST00000541205.1_Silent_p.E232E|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000544327.1_Silent_p.E219E|SCARB1_ENST00000261693.6_Silent_p.E273E|SCARB1_ENST00000339570.5_Silent_p.E273E			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	273					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.E273E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GGCTGTAGAACTCCAGCGAGG	0.572																																						uc001ugo.3																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(817-819)GAG>GAA		scavenger receptor class B, member 1 isoform 1	Phosphatidylserine(DB00144)						54.0	51.0	52.0					12																	125294743		2203	4300	6503	SO:0001819	synonymous_variant	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125294743C>T	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.819G>A	12.37:g.125294743C>T						SCARB1_uc001ugn.3_Silent_p.E273E|SCARB1_uc001ugm.3_Silent_p.E273E|SCARB1_uc010tbd.1_Silent_p.E273E|SCARB1_uc010tbe.1_Silent_p.E232E|SCARB1_uc001ugp.3_Silent_p.E273E	p.E273E	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	6	1072	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		273			Extracellular (Potential).		F8W8N0|Q14016|Q52LZ5|Q6KFX4	Silent	SNP	ENST00000415380.2	37	c.819G>A																																																																																					PASS	0.572	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		6	36	6	36	---	---	---	---
UBC	7316	broad.mit.edu	37	12	125397880	125397880	+	Silent	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr12:125397880C>A	ENST00000538617.1	-	3	754	c.438G>T	c.(436-438)gtG>gtT	p.V146V	UBC_ENST00000339647.5_Silent_p.V146V|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000536769.1_Silent_p.V146V|UBC_ENST00000546120.1_Intron|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	526	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.V146V(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGCACCAGGTGCA	0.557																																						uc001ugs.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(436-438)GTG>GTT		ubiquitin C							111.0	113.0	112.0					12																	125397880		2203	4297	6500	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397880C>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.438G>T	12.37:g.125397880C>A						UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Silent_p.V146V|UBC_uc001ugt.2_Silent_p.V146V|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_5'UTR	p.V146V	NM_021009	NP_066289	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	2	886	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		146			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.438G>T																																																																																					PASS	0.557	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		189	140	189	140	---	---	---	---
FAM216B	144809	broad.mit.edu	37	13	43358264	43358264	+	Nonsense_Mutation	SNP	C	C	T	rs1853636	byFrequency	TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr13:43358264C>T	ENST00000537894.1	+	2	184	c.61C>T	c.(61-63)Cga>Tga	p.R21*	FAM216B_ENST00000313851.1_Nonsense_Mutation_p.R21*	NM_182508.2	NP_872314.1	Q8N7L0	F216B_HUMAN	family with sequence similarity 216, member B	21								p.R21*(1)									TCCTTTTATTCGAGTTCCTCC	0.373													C|||	2	0.000399361	0.0	0.0	5008	,	,		14228	0.0		0.002	False		,,,				2504	0.0					uc010tfk.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(61-63)CGA>TGA		hypothetical protein LOC144809		C	stop/ARG	0,4406		0,0,2203	140.0	136.0	138.0		61	1.4	0.2	13	dbSNP_92	138	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	C13orf30	NM_182508.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		21/140	43358264	1,13005	2203	4300	6503	SO:0001587	stop_gained	144809							g.chr13:43358264C>T	AK098238	CCDS9386.1	13q14.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000179813	ENSG00000179813			26883	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 30"""	C13orf30			Standard	NM_182508		Approved	FLJ40919	uc010tfk.2	Q8N7L0	OTTHUMG00000016809	ENST00000537894.1:c.61C>T	13.37:g.43358264C>T	ENSP00000445786:p.Arg21*					C13orf30_uc010tfl.1_Nonsense_Mutation_p.R21*	p.R21*	NM_182508	NP_872314	Q8N7L0	CM030_HUMAN		GBM - Glioblastoma multiforme(144;0.000512)|OV - Ovarian serous cystadenocarcinoma(117;0.000563)|BRCA - Breast invasive adenocarcinoma(63;0.0677)	2	184	+		Lung NSC(96;0.000369)|Prostate(109;0.0305)|Lung SC(185;0.0367)|Breast(139;0.0406)	21					B1ALI3	Nonsense_Mutation	SNP	ENST00000537894.1	37	c.61C>T	CCDS9386.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	12.35	1.911207	0.33721	0.0	1.16E-4	ENSG00000179813	ENST00000537894;ENST00000313851	.	.	.	4.13	1.35	0.21983	.	0.192686	0.25590	N	0.029631	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-0.2855	3.4042	0.07335	0.2019:0.583:0.0:0.215	rs1853636;rs52792971;rs1853636	.	.	.	X	21	.	ENSP00000319336:R21X	R	+	1	2	C13orf30	42256264	0.485000	0.25972	0.219000	0.23793	0.037000	0.13140	0.384000	0.20668	0.267000	0.21916	0.579000	0.79373	CGA		PASS	0.373	FAM216B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044705.2	NM_182508		30	47	30	47	---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84455097	84455097	+	Silent	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr13:84455097G>C	ENST00000377084.2	-	1	1431	c.546C>G	c.(544-546)ctC>ctG	p.L182L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	182					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.L182L(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCCGGAGGTCGAGGTGGGTGA	0.527																																						uc001vlk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(544-546)CTC>CTG		slit and trk like 1 protein precursor							90.0	89.0	89.0					13																	84455097		2203	4300	6503	SO:0001819	synonymous_variant	114798					integral to membrane		g.chr13:84455097G>C	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.546C>G	13.37:g.84455097G>C							p.L182L	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1432	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	182			Extracellular (Potential).|LRR 6.		Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	c.546C>G	CCDS9464.1																																																																																				PASS	0.527	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		71	26	71	26	---	---	---	---
RNASE3	6037	broad.mit.edu	37	14	21360008	21360008	+	Silent	SNP	C	C	A	rs115812876		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr14:21360008C>A	ENST00000304639.3	+	2	221	c.163C>A	c.(163-165)Cgg>Agg	p.R55R		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	55	Required for nearly all of the bactericidal activity; partially involved in LPS-binding and bacterial membrane depolarization.				antibacterial humoral response (GO:0019731)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)	p.R55R(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	CATTGCAATGCGGGCAATTAA	0.463																																						uc001vyj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(163-165)CGG>AGG		ribonuclease, RNase A family, 3 (eosinophil	Pranlukast(DB01411)						116.0	120.0	119.0					14																	21360008		2192	4300	6492	SO:0001819	synonymous_variant	6037				defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21360008C>A	X55990	CCDS9560.1	14q11.2	2014-03-13	2010-05-07		ENSG00000169397	ENSG00000169397	3.1.27.-	"""Ribonucleases, RNase A"""	10046	protein-coding gene	gene with protein product	"""eosinophil cationic protein"""	131398		RNS3		1577491	Standard	NM_002935		Approved	ECP	uc001vyj.3	P12724	OTTHUMG00000029604	ENST00000304639.3:c.163C>A	14.37:g.21360008C>A							p.R55R	NM_002935	NP_002926	P12724	ECP_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	217	+	all_cancers(95;0.00453)		55					Q4VBC1|Q8WTP7|Q8WZ62|Q9GZN9	Silent	SNP	ENST00000304639.3	37	c.163C>A	CCDS9560.1																																																																																				PASS	0.463	RNASE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073795.2	NM_002935		97	110	97	110	---	---	---	---
HAUS4	54930	broad.mit.edu	37	14	23420834	23420834	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr14:23420834T>C	ENST00000206474.7	-	5	647	c.395A>G	c.(394-396)cAg>cGg	p.Q132R	HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000555367.1_Intron|HAUS4_ENST00000347758.2_Intron|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000541587.1_Missense_Mutation_p.Q132R|HAUS4_ENST00000342454.8_Intron|RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000490506.1_Missense_Mutation_p.Q8R|HAUS4_ENST00000555986.1_Intron			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	132					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.Q132R(1)		breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CTCCCTCTCCTGGCTAGGACC	0.498																																						uc001whp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(394-396)CAG>CGG		HAUS augmin-like complex, subunit 4							55.0	56.0	55.0					14																	23420834		2203	4300	6503	SO:0001583	missense	54930				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr14:23420834T>C	AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"""HAUS augmin-like complex subunits"""	20163	protein-coding gene	gene with protein product		613431	"""chromosome 14 open reading frame 94"""	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.395A>G	14.37:g.23420834T>C	ENSP00000206474:p.Gln132Arg					HAUS4_uc001who.2_Intron|HAUS4_uc001whq.2_Intron|HAUS4_uc001whr.2_Missense_Mutation_p.Q132R|HAUS4_uc001whs.2_Intron|HAUS4_uc001wht.2_Missense_Mutation_p.Q132R|HAUS4_uc001whu.2_Intron|HAUS4_uc001whv.2_Missense_Mutation_p.Q8R|HAUS4_uc001whw.2_Missense_Mutation_p.Q132R|HAUS4_uc001whx.2_Intron	p.Q132R	NM_017815	NP_060285	Q9H6D7	HAUS4_HUMAN			4	426	-			132					B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	ENST00000206474.7	37	c.395A>G	CCDS9580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.55|10.55	1.382637|1.382637	0.25031|0.25031	.|.	.|.	ENSG00000092036|ENSG00000092036	ENST00000206474;ENST00000490506;ENST00000541587;ENST00000555040;ENST00000554516;ENST00000557591;ENST00000554406|ENST00000553420	.|.	.|.	.|.	5.52|5.52	1.53|1.53	0.23141|0.23141	.|.	0.385899|.	0.28544|.	N|.	0.014974|.	T|T	0.26412|0.26412	0.0645|0.0645	N|N	0.16478|0.16478	0.41|0.41	0.43965|0.43965	D|D	0.996644|0.996644	B|.	0.09022|.	0.002|.	B|.	0.09377|.	0.004|.	T|T	0.06303|0.06303	-1.0834|-1.0834	9|5	0.15952|.	T|.	0.53|.	-4.8064|-4.8064	1.2244|1.2244	0.01930|0.01930	0.1453:0.1677:0.1506:0.5364|0.1453:0.1677:0.1506:0.5364	.|.	132|.	Q9H6D7|.	HAUS4_HUMAN|.	R|G	132;8;132;132;132;132;8|114	.|.	ENSP00000206474:Q132R|.	Q|R	-|-	2|1	0|2	HAUS4|HAUS4	22490674|22490674	0.214000|0.214000	0.23563|0.23563	0.929000|0.929000	0.37066|0.37066	0.906000|0.906000	0.53458|0.53458	-0.106000|-0.106000	0.10890|0.10890	0.353000|0.353000	0.24079|0.24079	0.402000|0.402000	0.26972|0.26972	CAG|AGG		PASS	0.498	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071680.3			43	45	43	45	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23549970	23549970	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr14:23549970C>A	ENST00000262710.1	-	6	1075	c.748G>T	c.(748-750)Gag>Tag	p.E250*	ACIN1_ENST00000555053.1_Nonsense_Mutation_p.E250*|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000457657.1_Nonsense_Mutation_p.E210*|ACIN1_ENST00000605057.1_Nonsense_Mutation_p.E192*	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	250	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E250*(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCTTGATCCTCTTCCTCCTCA	0.473																																						uc001wit.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(748-750)GAG>TAG		apoptotic chromatin condensation inducer 1							211.0	216.0	214.0					14																	23549970		2203	4300	6503	SO:0001587	stop_gained	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23549970C>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.748G>T	14.37:g.23549970C>A	ENSP00000262710:p.Glu250*					ACIN1_uc001wis.3_5'UTR|ACIN1_uc010akg.2_Nonsense_Mutation_p.E250*|ACIN1_uc010tnj.1_Nonsense_Mutation_p.E210*	p.E250*	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	1076	-	all_cancers(95;1.36e-05)		250			Glu-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Nonsense_Mutation	SNP	ENST00000262710.1	37	c.748G>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	39	7.596359	0.98381	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	.	.	.	5.35	5.35	0.76521	.	0.000000	0.39834	N	0.001260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-13.3971	14.5661	0.68176	0.0:1.0:0.0:0.0	.	.	.	.	X	250;210;250	.	ENSP00000262710:E250X	E	-	1	0	ACIN1	22619810	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.454000	0.52986	2.504000	0.84457	0.650000	0.86243	GAG		PASS	0.473	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		253	396	253	396	---	---	---	---
BCL2L2	599	broad.mit.edu	37	14	23777252	23777252	+	Silent	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr14:23777252C>T	ENST00000250405.5	+	3	505	c.276C>T	c.(274-276)aaC>aaT	p.N92N	BCL2L2-PABPN1_ENST00000553781.1_Silent_p.N92N|BCL2L2-PABPN1_ENST00000557008.1_Silent_p.N92N	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041	Q92843	B2CL2_HUMAN	BCL2-like 2	92					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|Sertoli cell proliferation (GO:0060011)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N92N(1)		central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		GGGGCCCCAACTGGGGCCGCC	0.577																																						uc001wjh.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(274-276)AAC>AAT		poly(A) binding protein, nuclear 1							41.0	50.0	47.0					14																	23777252		2201	4300	6501	SO:0001819	synonymous_variant	8106				modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	g.chr14:23777252C>T	D87461	CCDS9591.1	14q11.2-q12	2014-03-07			ENSG00000129473	ENSG00000129473		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	995	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 51"""	601931				8761287	Standard	NM_001199839		Approved	KIAA0271, BCL-W, PPP1R51		Q92843	OTTHUMG00000028738	ENST00000250405.5:c.276C>T	14.37:g.23777252C>T						BCL2L2_uc001wjg.3_Silent_p.N92N|BCL2L2_uc001wji.3_Silent_p.N92N	p.N92N	NM_004643	NP_004634	Q86U42	PABP2_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	3	464	+	all_cancers(95;6.69e-06)		Error:Variant_position_missing_in_Q86U42_after_alignment					A8K0F4|Q2M3U0|Q5U0H4	Silent	SNP	ENST00000250405.5	37	c.276C>T	CCDS9591.1																																																																																				PASS	0.577	BCL2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071763.3	NM_004050		60	110	60	110	---	---	---	---
FBXO33	254170	broad.mit.edu	37	14	39900916	39900916	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr14:39900916C>G	ENST00000298097.7	-	1	788	c.451G>C	c.(451-453)Ggc>Cgc	p.G151R	FBXO33_ENST00000554190.1_Missense_Mutation_p.G23R	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	151					protein ubiquitination (GO:0016567)			p.G151R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		GGGCCACCGCCGCTCAGATAG	0.672																																						uc001wvk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(451-453)GGC>CGC		F-box protein 33							31.0	38.0	36.0					14																	39900916		2200	4295	6495	SO:0001583	missense	254170							g.chr14:39900916C>G	BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"""F-boxes /  ""other"""""	19833	protein-coding gene	gene with protein product		609103	"""F-box only protein 33"""				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.451G>C	14.37:g.39900916C>G	ENSP00000298097:p.Gly151Arg						p.G151R	NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)	1	789	-	Hepatocellular(127;0.213)		151					Q6PIR2|Q86TR2|Q86YE0	Missense_Mutation	SNP	ENST00000298097.7	37	c.451G>C	CCDS9677.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518450	0.44763	.	.	ENSG00000165355	ENST00000298097;ENST00000554190	T	0.32515	1.45	4.2	3.3	0.37823	.	0.191095	0.43260	D	0.000590	T	0.19967	0.0480	N	0.19112	0.55	0.35967	D	0.83499	P	0.46656	0.882	B	0.42188	0.379	T	0.18178	-1.0345	9	.	.	.	-3.6327	11.8281	0.52280	0.0:0.9105:0.0:0.0895	.	151	Q7Z6M2	FBX33_HUMAN	R	151;23	ENSP00000298097:G151R	.	G	-	1	0	FBXO33	38970667	1.000000	0.71417	0.998000	0.56505	0.131000	0.20780	3.868000	0.56055	1.892000	0.54788	0.313000	0.20887	GGC		PASS	0.672	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2			27	41	27	41	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47351380	47351380	+	Silent	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr14:47351380C>T	ENST00000399232.2	-	11	2440	c.2076G>A	c.(2074-2076)ggG>ggA	p.G692G	MDGA2_ENST00000426342.1_Silent_p.G463G|MDGA2_ENST00000357362.3_Silent_p.G463G|MDGA2_ENST00000439988.3_Silent_p.G761G|MDGA2_ENST00000399222.3_5'UTR	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	692	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G463G(2)|p.G761G(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTGAATATTCCCATTTATTT	0.378																																						uc001wwj.3																			3	Substitution - coding silent(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(2074-2076)GGG>GGA		MAM domain containing 1 isoform 1							66.0	62.0	64.0					14																	47351380		1816	4080	5896	SO:0001819	synonymous_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47351380C>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2076G>A	14.37:g.47351380C>T						MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Silent_p.G463G|MDGA2_uc010ani.2_Silent_p.G252G	p.G692G	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			11	2272	-			692					F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.2076G>A																																																																																					PASS	0.378	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		24	54	24	54	---	---	---	---
GPR137C	283554	broad.mit.edu	37	14	53066881	53066881	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr14:53066881T>C	ENST00000321662.6	+	3	539	c.539T>C	c.(538-540)gTg>gCg	p.V180A		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	180						integral component of membrane (GO:0016021)		p.V180A(1)		NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TTTTTAGTGGTGAACTTGACT	0.343																																						uc001wzu.3																			1	Substitution - Missense(1)		lung(1)		0						c.(538-540)GTG>GCG		G protein-coupled receptor 137C							222.0	194.0	203.0					14																	53066881		1856	4105	5961	SO:0001583	missense	283554					integral to membrane		g.chr14:53066881T>C	BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.539T>C	14.37:g.53066881T>C	ENSP00000315106:p.Val180Ala					GPR137C_uc001wzt.3_Missense_Mutation_p.V180A	p.V180A	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN			3	539	+	Breast(41;0.0716)		180			Helical; (Potential).		Q86SM2	Missense_Mutation	SNP	ENST00000321662.6	37	c.539T>C	CCDS45106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.0|21.0	4.081367|4.081367	0.76528|0.76528	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000321662|ENST00000555622	T|.	0.58940|.	0.3|.	5.4|5.4	2.94|2.94	0.34122|0.34122	.|.	0.113128|.	0.64402|.	D|.	0.000014|.	T|.	0.55289|.	0.1911|.	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999999|0.999999	P;D|.	0.57571|.	0.95;0.98|.	P;P|.	0.49301|.	0.51;0.606|.	T|.	0.49254|.	-0.8959|.	10|.	0.66056|.	D|.	0.02|.	-25.9209|-25.9209	8.7278|8.7278	0.34480|0.34480	0.0:0.0701:0.1298:0.8002|0.0:0.0701:0.1298:0.8002	.|.	180;9|.	Q8N3F9;B3KW22|.	G137C_HUMAN;.|.	A|R	180|112	ENSP00000315106:V180A|.	ENSP00000315106:V180A|.	V|X	+|+	2|1	0|0	GPR137C|GPR137C	52136631|52136631	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.382000|5.382000	0.66213|0.66213	0.944000|0.944000	0.37579|0.37579	0.477000|0.477000	0.44152|0.44152	GTG|TGA		PASS	0.343	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1	XM_290615		102	132	102	132	---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	75052758	75052758	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr14:75052758C>A	ENST00000261978.4	-	3	1015	c.629G>T	c.(628-630)cGc>cTc	p.R210L	LTBP2_ENST00000556690.1_Missense_Mutation_p.R210L|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	210	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R210L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GAAACCAGAGCGGCAGACACA	0.657																																						uc001xqa.2																			1	Substitution - Missense(1)		lung(1)	liver(1)|skin(1)	2						c.(628-630)CGC>CTC		latent transforming growth factor beta binding							14.0	17.0	16.0					14																	75052758		2190	4287	6477	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75052758C>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.629G>T	14.37:g.75052758C>A	ENSP00000261978:p.Arg210Leu						p.R210L	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	3	1016	-			210			EGF-like 1.		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.629G>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	34	5.316626	0.95682	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.91237	-2.81;-2.81	5.41	5.41	0.78517	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.42821	D	0.000652	D	0.92074	0.7488	N	0.25380	0.74	0.50467	D	0.999875	D	0.89917	1.0	D	0.81914	0.995	D	0.93004	0.6426	10	0.62326	D	0.03	.	16.9856	0.86339	0.0:1.0:0.0:0.0	.	210	Q14767	LTBP2_HUMAN	L	210	ENSP00000261978:R210L;ENSP00000451477:R210L	ENSP00000261978:R210L	R	-	2	0	LTBP2	74122511	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.662000	0.74426	2.527000	0.85204	0.563000	0.77884	CGC		PASS	0.657	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		7	5	7	5	---	---	---	---
ATXN3	4287	broad.mit.edu	37	14	92555162	92555162	+	Splice_Site	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr14:92555162C>T	ENST00000532032.1	-	6	397		c.e6-1		ATXN3_ENST00000429774.2_Splice_Site|ATXN3_ENST00000393287.5_Splice_Site|ATXN3_ENST00000502250.1_Splice_Site|ATXN3_ENST00000545170.1_Splice_Site|ATXN3_ENST00000503767.1_Splice_Site|ATXN3_ENST00000340660.6_Splice_Site|ATXN3_ENST00000554491.1_Splice_Site			P54252	ATX3_HUMAN	ataxin 3						actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.?(1)		endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		AGTTAAACCACTGGAAAAAAA	0.323																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	uc001yac.3																			1	Unknown(1)		lung(1)		0						c.e6-1		ataxin 3 reference isoform							139.0	157.0	151.0					14																	92555162		2203	4300	6503	SO:0001630	splice_region_variant	4287				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding	g.chr14:92555162C>T	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.388-1G>A	14.37:g.92555162C>T						ATXN3_uc010aug.2_Splice_Site_p.W115_splice|ATXN3_uc001yad.3_Splice_Site_p.W75_splice|ATXN3_uc010auh.2_Splice_Site_p.W64_splice|ATXN3_uc001yae.3_Splice_Site_p.W32_splice|ATXN3_uc010twl.1_Splice_Site	p.W130_splice	NM_004993	NP_004984	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	6	457	-		all_cancers(154;0.0768)						A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Splice_Site	SNP	ENST00000532032.1	37	c.388_splice		.	.	.	.	.	.	.	.	.	.	c	22.9	4.347195	0.82022	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000503767;ENST00000340660;ENST00000532032;ENST00000555381;ENST00000554592;ENST00000554672;ENST00000553491;ENST00000556220;ENST00000506466	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4724	0.94967	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATXN3	91624915	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.494000	0.81503	2.620000	0.88729	0.555000	0.69702	.		PASS	0.323	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993	Intron	143	232	143	232	---	---	---	---
IGHG1	3500	broad.mit.edu	37	14	106208309	106208309	+	RNA	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr14:106208309C>T	ENST00000390548.2	-	0	590							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCTTGCCATTCAGCCAGTCCT	0.592																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							256.0	249.0	252.0					14																	106208309		2180	4273	6453			8755							g.chr14:106208309C>T	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106208309C>T						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Silent_p.L63L|uc001ysf.2_Silent_p.L63L								3627		-									RNA	SNP	ENST00000390548.2	37	c.58905G>A																																																																																					PASS	0.592	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		224	308	224	308	---	---	---	---
NDN	4692	broad.mit.edu	37	15	23931814	23931814	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr15:23931814C>T	ENST00000331837.4	-	1	636	c.551G>A	c.(550-552)cGc>cAc	p.R184H		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	184	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R184H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CATGGGCATGCGGTTGCTCAG	0.642									Prader-Willi syndrome																													uc001ywk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(550-552)CGC>CAC		necdin							25.0	23.0	24.0					15																	23931814		2202	4296	6498	SO:0001583	missense	4692	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931814C>T	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.551G>A	15.37:g.23931814C>T	ENSP00000332643:p.Arg184His						p.R184H	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	637	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	184			MAGE.		B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.551G>A	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147168	0.37923	.	.	ENSG00000182636	ENST00000331837	T	0.05139	3.49	3.88	0.0923	0.14472	.	0.723192	0.12841	N	0.434808	T	0.03915	0.0110	N	0.19112	0.55	0.28130	N	0.930223	B	0.16166	0.016	B	0.16289	0.015	T	0.34551	-0.9824	10	0.59425	D	0.04	.	4.412	0.11438	0.0:0.3942:0.4457:0.1601	.	184	Q99608	NECD_HUMAN	H	184	ENSP00000332643:R184H	ENSP00000332643:R184H	R	-	2	0	NDN	21482907	0.982000	0.34865	0.998000	0.56505	0.996000	0.88848	0.108000	0.15396	0.257000	0.21650	0.561000	0.74099	CGC		PASS	0.642	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		27	40	27	40	---	---	---	---
ARHGAP11A	9824	broad.mit.edu	37	15	32929724	32929724	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr15:32929724C>T	ENST00000361627.3	+	12	3472	c.2750C>T	c.(2749-2751)tCa>tTa	p.S917L	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.S728L|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.S728L	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	917					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S917L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GGTGCAATTTCAAAGTCAAGC	0.373																																					Colon(45;757 1134 30003 36652)	uc001zgy.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|breast(2)|urinary_tract(1)	6						c.(2749-2751)TCA>TTA		Rho GTPase activating protein 11A isoform 1							96.0	96.0	96.0					15																	32929724		2201	4300	6501	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32929724C>T	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2750C>T	15.37:g.32929724C>T	ENSP00000355090:p.Ser917Leu					ARHGAP11A_uc010ubw.1_Missense_Mutation_p.S728L|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.S728L	p.S917L	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	3472	+		all_lung(180;1.3e-11)	917					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.2750C>T	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	C	8.202	0.798330	0.16397	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.15487	2.42	4.55	2.67	0.31697	.	0.595749	0.14056	N	0.344402	T	0.18551	0.0445	M	0.67953	2.075	0.22066	N	0.999386	P	0.39282	0.666	B	0.37508	0.252	T	0.13335	-1.0513	10	0.87932	D	0	.	6.9941	0.24772	0.0:0.7924:0.0:0.2076	.	917	Q6P4F7	RHGBA_HUMAN	L	917;728	ENSP00000355090:S917L	ENSP00000355090:S917L	S	+	2	0	ARHGAP11A	30717016	0.995000	0.38212	0.093000	0.20910	0.046000	0.14306	1.241000	0.32743	0.541000	0.28827	0.591000	0.81541	TCA		PASS	0.373	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		80	108	80	108	---	---	---	---
NUTM1	256646	broad.mit.edu	37	15	34649516	34649516	+	Silent	SNP	C	C	A	rs529767971		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr15:34649516C>A	ENST00000333756.4	+	7	3378	c.3223C>A	c.(3223-3225)Cga>Aga	p.R1075R	NUTM1_ENST00000438749.3_Silent_p.R1093R|NUTM1_ENST00000537011.1_Silent_p.R1103R	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	1075						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R1075*(1)|p.R1075R(1)									GTCTGGGAAGCGAGCTCTAGC	0.592																																						uc001zif.2										T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(1)|endometrium(1)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(3223-3225)CGA>AGA		nuclear protein in testis							45.0	44.0	44.0					15																	34649516		2201	4298	6499	SO:0001819	synonymous_variant	256646					cytoplasm|nucleus		g.chr15:34649516C>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.3223C>A	15.37:g.34649516C>A						C15orf55_uc010ucc.1_Silent_p.R1103R|C15orf55_uc010ucd.1_Silent_p.R1093R	p.R1075R	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	7	3378	+		all_lung(180;2.78e-08)	1075					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.3223C>A	CCDS32190.1																																																																																				PASS	0.592	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		22	61	22	61	---	---	---	---
BNIP2	663	broad.mit.edu	37	15	59971939	59971939	+	Silent	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr15:59971939C>T	ENST00000607373.1	-	4	349	c.147G>A	c.(145-147)gtG>gtA	p.V49V	BNIP2_ENST00000267859.3_Silent_p.V170V|BNIP2_ENST00000415213.2_Silent_p.V111V	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	49					apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)	p.V49V(1)		NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						GTTTCTTTCTCACTTTATTTC	0.363																																					Ovarian(174;1936 1978 6671 8240 38212)	uc010uhc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(508-510)GTG>GTA		BCL2/adenovirus E1B 19kD interacting protein 2							81.0	65.0	70.0					15																	59971939		2190	4290	6480	SO:0001819	synonymous_variant	663				anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding	g.chr15:59971939C>T	U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299			1083	protein-coding gene	gene with protein product		603292	"""BCL2/adenovirus E1B 19kD-interacting protein 2"""			7954800	Standard	NM_004330		Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727	ENST00000607373.1:c.147G>A	15.37:g.59971939C>T						BNIP2_uc010uhb.1_Silent_p.V111V	p.V170V	NM_004330	NP_004321	Q12982	BNIP2_HUMAN			4	513	-			49					B4DS94	Silent	SNP	ENST00000607373.1	37	c.510G>A																																																																																					PASS	0.363	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470740.1	NM_004330		9	26	9	26	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	62944323	62944323	+	Silent	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr15:62944323T>C	ENST00000561311.1	+	5	584	c.354T>C	c.(352-354)tgT>tgC	p.C118C	TLN2_ENST00000306829.6_Silent_p.C118C			Q9Y4G6	TLN2_HUMAN	talin 2	118	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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.C118C(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						TCACTATTTGTAGCAGAATAG	0.428																																						uc002alb.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(352-354)TGT>TGC		talin 2							105.0	98.0	101.0					15																	62944323		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.chr15:62944323T>C	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.354T>C	15.37:g.62944323T>C							p.C118C	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			3	354	+			118			FERM.		A6NLB8	Silent	SNP	ENST00000561311.1	37	c.354T>C	CCDS32261.1																																																																																				PASS	0.428	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			71	90	71	90	---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79749790	79749790	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr15:79749790G>T	ENST00000305428.3	+	2	1376	c.1301G>T	c.(1300-1302)gGg>gTg	p.G434V		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	434						integral component of membrane (GO:0016021)		p.G434V(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AAACAAAATGGGCTCAAATCT	0.483																																						uc002bew.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(1300-1302)GGG>GTG		hypothetical protein LOC23251							63.0	65.0	64.0					15																	79749790		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79749790G>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1301G>T	15.37:g.79749790G>T	ENSP00000307461:p.Gly434Val					KIAA1024_uc010unk.1_Missense_Mutation_p.G434V	p.G434V	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	1376	+			434					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.1301G>T	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	6.279	0.419631	0.11928	.	.	ENSG00000169330	ENST00000305428	T	0.31769	1.48	4.81	3.79	0.43588	.	0.310563	0.36409	N	0.002609	T	0.30572	0.0769	L	0.56769	1.78	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.11421	-1.0588	9	.	.	.	.	15.6581	0.77158	0.0:0.0:0.8531:0.1469	.	434	Q9UPX6	K1024_HUMAN	V	434	ENSP00000307461:G434V	.	G	+	2	0	KIAA1024	77536845	1.000000	0.71417	0.993000	0.49108	0.247000	0.25773	3.047000	0.49854	2.206000	0.71126	0.491000	0.48974	GGG		PASS	0.483	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		54	56	54	56	---	---	---	---
IL16	3603	broad.mit.edu	37	15	81585347	81585347	+	Missense_Mutation	SNP	C	C	A	rs202120564		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr15:81585347C>A	ENST00000302987.4	+	11	1871	c.1871C>A	c.(1870-1872)tCt>tAt	p.S624Y	IL16_ENST00000394660.2_Missense_Mutation_p.S624Y			Q14005	IL16_HUMAN	interleukin 16	624					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S624Y(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCCTCATGCTCTTCTGGGCAC	0.512																																						uc002bgh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1870-1872)TCT>TAT		interleukin 16 isoform 2							37.0	37.0	37.0					15																	81585347		1871	4103	5974	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81585347C>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1871C>A	15.37:g.81585347C>A	ENSP00000302935:p.Ser624Tyr					IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Intron|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.S666Y|IL16_uc002bgg.2_Missense_Mutation_p.S624Y|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_Missense_Mutation_p.S118Y|IL16_uc002bgk.2_5'Flank	p.S624Y	NM_172217	NP_757366	Q14005	IL16_HUMAN			12	2247	+			624					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.1871C>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300223	0.23650	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842	T;T	0.11712	2.75;2.75	4.78	3.86	0.44501	.	0.698431	0.12467	N	0.466333	T	0.07458	0.0188	N	0.14661	0.345	0.31137	N	0.707091	B;B;B	0.18610	0.029;0.0;0.001	B;B;B	0.08055	0.003;0.0;0.001	T	0.07158	-1.0787	10	0.62326	D	0.03	.	10.3113	0.43710	0.0:0.9066:0.0:0.0934	.	118;624;624	Q6ZTT5;Q14005;Q14005-2	.;IL16_HUMAN;.	Y	624;456;624;161	ENSP00000378155:S624Y;ENSP00000302935:S624Y	ENSP00000302935:S624Y	S	+	2	0	IL16	79372402	0.001000	0.12720	0.024000	0.17045	0.004000	0.04260	1.048000	0.30379	1.240000	0.43803	-0.258000	0.10820	TCT		PASS	0.512	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		40	48	40	48	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89398124	89398124	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr15:89398124G>A	ENST00000561243.1	+	11	2308	c.2308G>A	c.(2308-2310)Gaa>Aaa	p.E770K	ACAN_ENST00000352105.7_Missense_Mutation_p.E770K|ACAN_ENST00000439576.2_Missense_Mutation_p.E770K|ACAN_ENST00000559004.1_Missense_Mutation_p.E770K			P16112	PGCA_HUMAN	aggrecan	769	KS.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.E770K(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGCAACAGAGGAAAGTACAGA	0.537																																						uc010upo.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(2308-2310)GAA>AAA		aggrecan isoform 2 precursor							24.0	26.0	26.0					15																	89398124		1926	4124	6050	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398124G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2308G>A	15.37:g.89398124G>A	ENSP00000453342:p.Glu770Lys					ACAN_uc010upp.1_Missense_Mutation_p.E770K|ACAN_uc002bna.2_RNA	p.E770K	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	2682	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		770					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2308G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866066	0.71949	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02323	4.58;4.34	5.53	5.53	0.82687	.	0.257286	0.20341	N	0.094233	T	0.07369	0.0186	M	0.69823	2.125	0.40796	D	0.983293	P;P	0.50443	0.935;0.935	P;P	0.45829	0.494;0.494	T	0.06807	-1.0806	10	0.46703	T	0.11	-4.7129	14.8418	0.70230	0.0:0.0:1.0:0.0	.	770;770	E7ENV9;E7EX88	.;.	K	770	ENSP00000387356:E770K;ENSP00000341615:E770K	ENSP00000268134:E770K	E	+	1	0	ACAN	87199128	1.000000	0.71417	0.768000	0.31515	0.727000	0.41649	5.175000	0.65021	2.871000	0.98454	0.655000	0.94253	GAA		PASS	0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		9	17	9	17	---	---	---	---
HAGHL	84264	broad.mit.edu	37	16	779062	779062	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:779062C>A	ENST00000341413.4	+	7	1048	c.767C>A	c.(766-768)gCc>gAc	p.A256D	CCDC78_ENST00000293889.6_5'Flank|HAGHL_ENST00000561546.1_Silent_p.R218R|HAGHL_ENST00000549114.1_3'UTR|HAGHL_ENST00000389703.3_Silent_p.R218R|HAGHL_ENST00000564537.1_3'UTR|NARFL_ENST00000562862.1_5'Flank			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	256							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.A256D(1)		lung(3)	3		Hepatocellular(780;0.00335)				GCGAGGAGCGCCTCTACAACC	0.627																																					Pancreas(46;538 1326 12403 32360)	uc002cjl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(766-768)GCC>GAC		hydroxyacylglutathione hydrolase-like isoform 1							33.0	26.0	28.0					16																	779062		2188	4294	6482	SO:0001583	missense	84264						hydrolase activity|metal ion binding	g.chr16:779062C>A	AK054841	CCDS32354.1	16p13.3	2008-02-05	2003-11-04						14177	protein-coding gene	gene with protein product			"""hydroxyacyl glutathione hydrolase-like"""			12477932	Standard	XM_005255629		Approved	MGC2605	uc002cjo.1	Q6PII5		ENST00000341413.4:c.767C>A	16.37:g.779062C>A	ENSP00000341952:p.Ala256Asp					CCDC78_uc002cji.3_5'Flank|CCDC78_uc002cjg.2_5'Flank|CCDC78_uc002cjj.3_5'Flank|CCDC78_uc002cjh.2_5'Flank|CCDC78_uc010uuo.1_5'Flank|CCDC78_uc002cjk.2_5'Flank|HAGHL_uc002cjm.1_3'UTR|HAGHL_uc002cjn.1_3'UTR|HAGHL_uc002cjo.1_Silent_p.R218R|HAGHL_uc010uup.1_Silent_p.R218R	p.A256D	NM_207112	NP_996995	Q6PII5	HAGHL_HUMAN			7	1048	+		Hepatocellular(780;0.00335)	256					A6NCC4|D3DU64|Q59FX8|Q96BZ3|Q96NR5|Q96S11|Q9BT45	Missense_Mutation	SNP	ENST00000341413.4	37	c.767C>A		.	.	.	.	.	.	.	.	.	.	C	21.3	4.123636	0.77436	.	.	ENSG00000103253	ENST00000341413	D	0.96587	-4.06	4.51	-0.578	0.11724	.	0.303903	0.29198	N	0.012843	D	0.86205	0.5877	.	.	.	0.80722	D	1	B	0.21520	0.057	B	0.16722	0.016	T	0.76038	-0.3105	9	0.02654	T	1	-17.1276	6.0528	0.19794	0.0:0.4666:0.2841:0.2493	.	256	Q6PII5	HAGHL_HUMAN	D	256	ENSP00000341952:A256D	ENSP00000341952:A256D	A	+	2	0	HAGHL	719063	0.004000	0.15560	0.983000	0.44433	0.917000	0.54804	-0.179000	0.09768	0.022000	0.15160	-0.311000	0.09066	GCC		PASS	0.627	HAGHL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409607.1	NM_032304		13	19	13	19	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2167522	2167522	+	Silent	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:2167522G>A	ENST00000262304.4	-	6	1561	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A	PKD1_ENST00000423118.1_Silent_p.A451A|RP11-304L19.2_ENST00000562027.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	451	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.A451A(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCGCTGCACGGCGGGACTGT	0.706																																						uc002cos.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(1351-1353)GCC>GCT		polycystin 1 isoform 1 precursor							3.0	4.0	3.0					16																	2167522		1714	3568	5282	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2167522G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.1353C>T	16.37:g.2167522G>A						PKD1_uc002cot.1_Silent_p.A451A	p.A451A	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			6	1562	-			451			C-type lectin.|Extracellular (Potential).		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.1353C>T	CCDS32369.1																																																																																				PASS	0.706	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			7	6	7	6	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2812332	2812332	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:2812332G>T	ENST00000301740.8	+	11	2352	c.1803G>T	c.(1801-1803)agG>agT	p.R601S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	601	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.R601S(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTCCCACCAGGCGTAGGTCTC	0.617																																						uc002crk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1801-1803)AGG>AGT		splicing coactivator subunit SRm300							54.0	57.0	56.0					16																	2812332		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812332G>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1803G>T	16.37:g.2812332G>T	ENSP00000301740:p.Arg601Ser					SRRM2_uc002crj.1_Missense_Mutation_p.R505S|SRRM2_uc002crl.1_Missense_Mutation_p.R601S|SRRM2_uc010bsu.1_Missense_Mutation_p.R505S	p.R601S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	2352	+			601			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.1803G>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905712	0.33628	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.26957	1.7	5.91	0.14	0.14804	.	0.000000	0.64402	D	0.000003	T	0.30510	0.0767	L	0.27053	0.805	0.26996	N	0.965024	D	0.71674	0.998	D	0.76071	0.987	T	0.14309	-1.0477	10	0.33940	T	0.23	-12.4674	9.5691	0.39416	0.4361:0.0:0.5639:0.0	.	601	Q9UQ35	SRRM2_HUMAN	S	601;601;566	ENSP00000301740:R601S	ENSP00000301740:R601S	R	+	3	2	SRRM2	2752333	0.775000	0.28604	0.967000	0.41034	0.943000	0.58893	-0.043000	0.12043	0.045000	0.15804	0.655000	0.94253	AGG		PASS	0.617	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			36	66	36	66	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3656624	3656624	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:3656624C>T	ENST00000294008.3	-	3	1251	c.611G>A	c.(610-612)cGc>cAc	p.R204H		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	204	Interaction with SLX4IP, ERCC4 and MSH2.		R -> C (in dbSNP:rs79842542). {ECO:0000269|PubMed:22911665}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.R204H(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTGTGCTGTGCGGGGTTTGGA	0.557								Direct reversal of damage																														uc002cvp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(610-612)CGC>CAC	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							179.0	179.0	179.0					16																	3656624		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3656624C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.611G>A	16.37:g.3656624C>T	ENSP00000294008:p.Arg204His					BTBD12_uc002cvq.1_Missense_Mutation_p.R204H	p.R204H	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			3	1238	-			204			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.611G>A	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663607	0.88251	.	.	ENSG00000188827	ENST00000294008	T	0.05081	3.5	5.16	5.16	0.70880	.	0.085562	0.45606	D	0.000360	T	0.22205	0.0535	L	0.55990	1.75	0.37999	D	0.934154	D	0.89917	1.0	D	0.87578	0.998	T	0.00837	-1.1546	10	0.87932	D	0	.	17.5813	0.87969	0.0:1.0:0.0:0.0	.	204	Q8IY92	SLX4_HUMAN	H	204	ENSP00000294008:R204H	ENSP00000294008:R204H	R	-	2	0	SLX4	3596625	0.989000	0.36119	0.909000	0.35828	0.741000	0.42261	4.695000	0.61767	2.577000	0.86979	0.655000	0.94253	CGC		PASS	0.557	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		185	184	185	184	---	---	---	---
UQCRC2	7385	broad.mit.edu	37	16	21983385	21983385	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:21983385G>A	ENST00000268379.4	+	10	1672	c.908G>A	c.(907-909)aGc>aAc	p.S303N	UQCRC2_ENST00000561553.1_Missense_Mutation_p.S303N	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	303					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.S303N(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		AAGAGGGGCAGCAACACCACC	0.512																																					Colon(123;450 1645 12841 25393 45623)	uc002djx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(907-909)AGC>AAC		ubiquinol-cytochrome c reductase core protein II							74.0	56.0	62.0					16																	21983385		2198	4300	6498	SO:0001583	missense	7385				aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding	g.chr16:21983385G>A	J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.908G>A	16.37:g.21983385G>A	ENSP00000268379:p.Ser303Asn					UQCRC2_uc002djy.2_Missense_Mutation_p.S303N|UQCRC2_uc010bxa.2_RNA|UQCRC2_uc002djz.1_Missense_Mutation_p.S170N	p.S303N	NM_003366	NP_003357	P22695	QCR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0264)	10	1044	+			303					B3KSN4|Q9BQ05	Missense_Mutation	SNP	ENST00000268379.4	37	c.908G>A	CCDS10601.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595425	0.28445	.	.	ENSG00000140740	ENST00000268379	T	0.44881	0.91	4.67	3.71	0.42584	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.274153	0.47455	N	0.000231	T	0.36552	0.0971	L	0.54965	1.715	0.50632	D	0.99988	B	0.06786	0.001	B	0.10450	0.005	T	0.14559	-1.0468	10	0.29301	T	0.29	-4.5278	10.9076	0.47088	0.0946:0.0:0.9054:0.0	.	303	P22695	QCR2_HUMAN	N	303	ENSP00000268379:S303N	ENSP00000268379:S303N	S	+	2	0	UQCRC2	21890886	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	4.688000	0.61715	1.069000	0.40788	0.655000	0.94253	AGC		PASS	0.512	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366		22	37	22	37	---	---	---	---
KIAA0556	23247	broad.mit.edu	37	16	27772789	27772789	+	Silent	SNP	T	T	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:27772789T>G	ENST00000261588.4	+	19	3706	c.3687T>G	c.(3685-3687)acT>acG	p.T1229T		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1229						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T1229T(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGGGGCTCACTGGCCTGGAAG	0.592																																						uc002dow.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(3685-3687)ACT>ACG		hypothetical protein LOC23247							78.0	70.0	72.0					16																	27772789		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27772789T>G	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3687T>G	16.37:g.27772789T>G							p.T1229T	NM_015202	NP_056017	O60303	K0556_HUMAN			19	3711	+			1229					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.3687T>G	CCDS32415.1																																																																																				PASS	0.592	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		52	65	52	65	---	---	---	---
APOBR	55911	broad.mit.edu	37	16	28507309	28507309	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:28507309G>C	ENST00000431282.1	+	2	957	c.947G>C	c.(946-948)gGg>gCg	p.G316A	APOBR_ENST00000564831.1_Missense_Mutation_p.G316A|CLN3_ENST00000567160.1_5'Flank|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.G316A			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	316	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)	p.G316A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCTCAGGCGGGGAGGAGGCT	0.672																																						uc002dqb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(946-948)GGG>GCG		apolipoprotein B48 receptor							18.0	19.0	19.0					16																	28507309		1876	4075	5951	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28507309G>C	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.947G>C	16.37:g.28507309G>C	ENSP00000416094:p.Gly316Ala					uc010vct.1_Intron|APOB48R_uc010byg.1_5'UTR	p.G316A	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN			2	957	+			316			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.947G>C		.	.	.	.	.	.	.	.	.	.	G	0.160	-1.082521	0.01888	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.59364	0.27;0.27	3.53	-3.26	0.05064	.	.	.	.	.	T	0.26376	0.0644	N	0.14661	0.345	0.09310	N	1	B	0.23806	0.091	B	0.18263	0.021	T	0.24621	-1.0155	9	0.07175	T	0.84	.	1.3581	0.02186	0.3116:0.1469:0.3926:0.149	.	307	Q9NS13	.	A	316	ENSP00000327669:G316A;ENSP00000416094:G316A	ENSP00000327669:G316A	G	+	2	0	APOBR	28414810	0.759000	0.28416	0.001000	0.08648	0.037000	0.13140	0.906000	0.28517	-0.175000	0.10725	0.558000	0.71614	GGG		PASS	0.672	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		7	17	7	17	---	---	---	---
ZNF785	146540	broad.mit.edu	37	16	30594536	30594536	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:30594536G>T	ENST00000395216.2	-	3	722	c.563C>A	c.(562-564)gCc>gAc	p.A188D	ZNF785_ENST00000470110.1_Missense_Mutation_p.A173D|AC002310.7_ENST00000492040.1_RNA|RP11-146F11.5_ENST00000563540.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A188D(1)		endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CTGGTGGCTGGCCAGGAGGGA	0.642																																						uc002dyw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(562-564)GCC>GAC		zinc finger protein 785							49.0	46.0	47.0					16																	30594536		2197	4300	6497	SO:0001583	missense	146540				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30594536G>T	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.563C>A	16.37:g.30594536G>T	ENSP00000378642:p.Ala188Asp					uc002dyu.2_RNA|ZNF785_uc002dyv.1_Missense_Mutation_p.A173D|ZNF785_uc010vez.1_Missense_Mutation_p.A153D	p.A188D	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN			3	641	-			188			C2H2-type 1.		O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000395216.2	37	c.563C>A	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	g	17.27	3.346223	0.61073	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	T;T	0.52057	0.68;0.68	4.34	0.577	0.17385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30572	0.0769	L	0.33245	0.995	0.09310	N	0.999999	P;B;P	0.45768	0.866;0.248;0.837	B;B;B	0.41764	0.366;0.155;0.25	T	0.11470	-1.0586	9	0.24483	T	0.36	.	3.1126	0.06364	0.5403:0.0:0.2532:0.2065	.	153;188;173	B4DQL1;A8K8V0;A8K8V0-2	.;ZN785_HUMAN;.	D	173;153;188	ENSP00000420340:A173D;ENSP00000378642:A188D	ENSP00000378642:A188D	A	-	2	0	ZNF785	30502037	0.000000	0.05858	0.066000	0.19879	0.719000	0.41307	-2.576000	0.00910	0.292000	0.22492	0.644000	0.83932	GCC		PASS	0.642	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		4	38	4	38	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49670765	49670765	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:49670765C>G	ENST00000561648.1	-	4	2351	c.2298G>C	c.(2296-2298)caG>caC	p.Q766H	ZNF423_ENST00000535559.1_Missense_Mutation_p.Q649H|ZNF423_ENST00000567169.1_Missense_Mutation_p.Q649H|ZNF423_ENST00000562520.1_Missense_Mutation_p.Q706H|ZNF423_ENST00000262383.2_Missense_Mutation_p.Q766H|ZNF423_ENST00000563137.2_Missense_Mutation_p.Q706H|ZNF423_ENST00000562871.1_Missense_Mutation_p.Q706H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	766					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q766H(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGACGTGCACCTGCAGGTCAG	0.602																																						uc002efs.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(2296-2298)CAG>CAC		zinc finger protein 423							133.0	116.0	122.0					16																	49670765		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49670765C>G	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2298G>C	16.37:g.49670765C>G	ENSP00000455426:p.Gln766His					ZNF423_uc010vgn.1_Missense_Mutation_p.Q649H	p.Q766H	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	2596	-		all_cancers(37;0.0155)	766			C2H2-type 18.		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.2298G>C	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.161225	0.38119	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.09817	2.94;2.99	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.055089	0.85682	D	0.000000	T	0.13586	0.0329	L	0.47716	1.5	0.41948	D	0.99064	P	0.42010	0.768	P	0.45195	0.473	T	0.03268	-1.1054	9	.	.	.	.	11.1326	0.48356	0.0:0.8645:0.0:0.1355	.	766	Q2M1K9	ZN423_HUMAN	H	766;649	ENSP00000262383:Q766H;ENSP00000442321:Q649H	.	Q	-	3	2	ZNF423	48228266	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.897000	0.63231	2.234000	0.73211	0.561000	0.74099	CAG		PASS	0.602	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		39	49	39	49	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49672375	49672375	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:49672375C>A	ENST00000561648.1	-	4	741	c.688G>T	c.(688-690)Ggc>Tgc	p.G230C	ZNF423_ENST00000535559.1_Missense_Mutation_p.G113C|ZNF423_ENST00000567169.1_Missense_Mutation_p.G113C|ZNF423_ENST00000562520.1_Missense_Mutation_p.G170C|ZNF423_ENST00000262383.2_Missense_Mutation_p.G230C|ZNF423_ENST00000563137.2_Missense_Mutation_p.G170C|ZNF423_ENST00000562871.1_Missense_Mutation_p.G170C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	230					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G230C(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GAGGAGAAGCCGCGCTTGCAC	0.592																																						uc002efs.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(688-690)GGC>TGC		zinc finger protein 423							63.0	49.0	54.0					16																	49672375		2198	4298	6496	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672375C>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.688G>T	16.37:g.49672375C>A	ENSP00000455426:p.Gly230Cys					ZNF423_uc010vgn.1_Missense_Mutation_p.G113C	p.G230C	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	986	-		all_cancers(37;0.0155)	230			C2H2-type 5.		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.688G>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361489	0.61403	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08008	3.14;3.14	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.20170	0.0485	L	0.35341	1.055	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.02307	-1.1179	9	.	.	.	.	18.3069	0.90185	0.0:1.0:0.0:0.0	.	230	Q2M1K9	ZN423_HUMAN	C	230;113	ENSP00000262383:G230C;ENSP00000442321:G113C	.	G	-	1	0	ZNF423	48229876	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.818000	0.86416	2.331000	0.79229	0.561000	0.74099	GGC		PASS	0.592	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		49	75	49	75	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50733863	50733863	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:50733863A>T	ENST00000300589.2	+	2	643	c.538A>T	c.(538-540)Agg>Tgg	p.R180W	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	180	CARD 2. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.R180W(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ACCGTCCCAGAGGGTGAGGCA	0.532																																						uc002egm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(538-540)AGG>TGG		nucleotide-binding oligomerization domain							62.0	51.0	55.0					16																	50733863		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50733863A>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.538A>T	16.37:g.50733863A>T	ENSP00000300589:p.Arg180Trp					NOD2_uc010cbj.1_Missense_Mutation_p.R153W|NOD2_uc010cbk.1_Missense_Mutation_p.R153W|NOD2_uc002egl.1_5'UTR	p.R180W	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			2	643	+		all_cancers(37;0.0156)	180			CARD 2.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.538A>T	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475526	0.63737	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.18960	2.18	5.29	3.13	0.36017	DEATH-like (2);Caspase Recruitment (2);	0.109098	0.40908	D	0.000982	T	0.36936	0.0985	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.11567	-1.0582	10	0.87932	D	0	.	9.8431	0.41010	0.6031:0.3969:0.0:0.0	.	180	Q9HC29	NOD2_HUMAN	W	153;180	ENSP00000300589:R180W	ENSP00000300589:R180W	R	+	1	2	NOD2	49291364	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	1.251000	0.32862	1.007000	0.39238	0.482000	0.46254	AGG		PASS	0.532	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		30	28	30	28	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51172604	51172604	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:51172604G>A	ENST00000251020.4	-	2	3562	c.3529C>T	c.(3529-3531)Ctt>Ttt	p.L1177F	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.L1080F	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1177					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L1177F(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGTACCTTAAGATTGCCTTTA	0.493																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(3)	8						c.(3529-3531)CTT>TTT		sal-like 1 isoform a							100.0	89.0	92.0					16																	51172604		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51172604G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3529C>T	16.37:g.51172604G>A	ENSP00000251020:p.Leu1177Phe					SALL1_uc010vgr.1_Missense_Mutation_p.L1080F|SALL1_uc010cbv.2_Intron	p.L1177F	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	3560	-		all_cancers(37;0.0322)	1177			C2H2-type 9.		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.3529C>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449834	0.84101	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.13657	2.57;2.57	5.31	5.31	0.75309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.26919	0.0659	M	0.73430	2.235	0.80722	D	1	P	0.47253	0.892	P	0.46758	0.526	T	0.03017	-1.1082	10	0.72032	D	0.01	.	17.1497	0.86774	0.0:0.0:1.0:0.0	.	1177	Q9NSC2	SALL1_HUMAN	F	1177;1080;1141	ENSP00000251020:L1177F;ENSP00000407914:L1080F	ENSP00000251020:L1177F	L	-	1	0	SALL1	49730105	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.469000	0.83416	0.563000	0.77884	CTT		PASS	0.493	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		30	57	30	57	---	---	---	---
CHD9	80205	broad.mit.edu	37	16	53302009	53302009	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:53302009G>T	ENST00000398510.3	+	21	4775	c.4688G>T	c.(4687-4689)gGa>gTa	p.G1563V	CHD9_ENST00000447540.1_Missense_Mutation_p.G1563V|CHD9_ENST00000564845.1_Missense_Mutation_p.G1563V|CHD9_ENST00000566029.1_Missense_Mutation_p.G1563V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1563					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.G1563V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACTGAAGATGGACAGACACGA	0.338																																						uc002ehb.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(4687-4689)GGA>GTA		chromodomain helicase DNA binding protein 9							81.0	73.0	76.0					16																	53302009		1860	4098	5958	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53302009G>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4688G>T	16.37:g.53302009G>T	ENSP00000381522:p.Gly1563Val					CHD9_uc002egy.2_Missense_Mutation_p.G1563V|CHD9_uc002ehc.2_Missense_Mutation_p.G1563V|CHD9_uc002ehf.2_Missense_Mutation_p.G677V|CHD9_uc010cbw.2_5'UTR|CHD9_uc002ehd.2_Missense_Mutation_p.G1089V	p.G1563V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			21	4852	+		all_cancers(37;0.0212)	1563					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.4688G>T		.	.	.	.	.	.	.	.	.	.	G	28.8	4.954458	0.92726	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.94793	-3.52;-3.52	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000019	D	0.97695	0.9244	M	0.87900	2.915	0.80722	D	1	D;D;D;D	0.89917	0.987;1.0;1.0;1.0	P;D;D;D	0.91635	0.87;0.994;0.998;0.999	D	0.98225	1.0480	10	0.87932	D	0	-11.3951	19.4655	0.94935	0.0:0.0:1.0:0.0	.	1089;1563;1563;1563	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	V	1563;1563;1089	ENSP00000396345:G1563V;ENSP00000381522:G1563V	ENSP00000219084:G1089V	G	+	2	0	CHD9	51859510	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	9.802000	0.99131	2.602000	0.87976	0.650000	0.86243	GGA		PASS	0.338	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		16	15	16	15	---	---	---	---
RPGRIP1L	23322	broad.mit.edu	37	16	53720458	53720458	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:53720458C>G	ENST00000379925.3	-	6	713	c.663G>C	c.(661-663)caG>caC	p.Q221H	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.Q221H|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.Q221H|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.Q221H	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	221					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.Q221H(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ACTCCTCTATCTGGCCTCTTT	0.373																																						uc002ehp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(661-663)CAG>CAC		RPGRIP1-like isoform a							116.0	111.0	113.0					16																	53720458		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53720458C>G		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.663G>C	16.37:g.53720458C>G	ENSP00000369257:p.Gln221His					RPGRIP1L_uc002eho.3_Missense_Mutation_p.Q221H|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.Q221H|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.Q221H|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.Q221H|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.Q221H	p.Q221H	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			6	727	-		all_cancers(37;0.0973)	221			Potential.		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.663G>C	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236727	0.39498	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.77877	-0.16;-1.13	5.73	4.57	0.56435	.	0.353200	0.30437	N	0.009631	T	0.68805	0.3041	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.26902	0.02;0.011;0.025;0.163	B;B;B;B	0.22601	0.017;0.011;0.017;0.04	T	0.67507	-0.5653	10	0.49607	T	0.09	-11.0682	6.559	0.22476	0.0:0.5344:0.3417:0.1239	.	221;221;221;221	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	H	221	ENSP00000369257:Q221H;ENSP00000262135:Q221H	ENSP00000262135:Q221H	Q	-	3	2	RPGRIP1L	52277959	0.955000	0.32602	1.000000	0.80357	0.995000	0.86356	-0.045000	0.12003	2.854000	0.98071	0.655000	0.94253	CAG		PASS	0.373	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		85	108	85	108	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58583753	58583753	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:58583753G>A	ENST00000317147.5	-	25	3724	c.3392C>T	c.(3391-3393)tCa>tTa	p.S1131L	CNOT1_ENST00000245138.4_Missense_Mutation_p.S21L|CNOT1_ENST00000569732.1_5'Flank|CNOT1_ENST00000569240.1_Missense_Mutation_p.S1126L|SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000441024.2_Missense_Mutation_p.S1131L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1131	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.S1131L(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGATACTGTGAAACCCAAGG	0.388																																						uc002env.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(3391-3393)TCA>TTA		CCR4-NOT transcription complex, subunit 1							159.0	147.0	151.0					16																	58583753		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58583753G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3392C>T	16.37:g.58583753G>A	ENSP00000320949:p.Ser1131Leu					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.S1126L|CNOT1_uc002enx.2_Missense_Mutation_p.S1131L|CNOT1_uc002enz.1_Missense_Mutation_p.S560L|CNOT1_uc010vik.1_Missense_Mutation_p.S127L|SNORA46_uc002eny.1_5'Flank	p.S1131L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	25	3685	-			1131					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.3392C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	34	5.357710	0.95854	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000245138;ENST00000394200;ENST00000441024	T;T	0.12255	2.7;2.7	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	L	0.60455	1.87	0.80722	D	1	D;P;P;D	0.54772	0.96;0.557;0.919;0.968	P;B;B;P	0.52598	0.622;0.164;0.324;0.703	T	0.00787	-1.1566	10	0.62326	D	0.03	.	19.1726	0.93585	0.0:0.0:1.0:0.0	.	21;1131;1131;1126	B5MDN3;A5YKK6-4;A5YKK6;A5YKK6-2	.;.;CNOT1_HUMAN;.	L	1131;560;21;1126;1131	ENSP00000320949:S1131L;ENSP00000413113:S1131L	ENSP00000245138:S21L	S	-	2	0	CNOT1	57141254	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.536000	0.85505	0.491000	0.48974	TCA		PASS	0.388	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		122	159	122	159	---	---	---	---
PLEKHG4	25894	broad.mit.edu	37	16	67314219	67314219	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:67314219C>G	ENST00000360461.5	+	1	2807	c.272C>G	c.(271-273)tCa>tGa	p.S91*	PLEKHG4_ENST00000450733.1_Nonsense_Mutation_p.S91*|PLEKHG4_ENST00000379344.3_Nonsense_Mutation_p.S91*|PLEKHG4_ENST00000427155.2_Nonsense_Mutation_p.S91*	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	91							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S91*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GAAAGCTCCTCAGTCCTGTCA	0.612																																						uc002eso.3																			1	Substitution - Nonsense(1)		lung(1)	skin(1)|pancreas(1)	2						c.(271-273)TCA>TGA		pleckstrin homology domain containing, family G							46.0	45.0	45.0					16																	67314219		2198	4300	6498	SO:0001587	stop_gained	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67314219C>G	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.272C>G	16.37:g.67314219C>G	ENSP00000353646:p.Ser91*					PLEKHG4_uc002esp.3_5'UTR|PLEKHG4_uc002esq.3_Nonsense_Mutation_p.S91*|PLEKHG4_uc002esr.1_Intron|PLEKHG4_uc010cef.2_Nonsense_Mutation_p.S91*|PLEKHG4_uc002ess.3_Nonsense_Mutation_p.S91*|PLEKHG4_uc010ceg.2_Nonsense_Mutation_p.S91*	p.S91*	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	1	2807	+			91					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Nonsense_Mutation	SNP	ENST00000360461.5	37	c.272C>G	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	C	52	19.841950	0.99924	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733;ENST00000393966	.	.	.	4.53	1.34	0.21922	.	0.672064	0.11482	N	0.559669	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	4.505	0.11883	0.174:0.6308:0.0:0.1952	.	.	.	.	X	91	.	ENSP00000353646:S91X	S	+	2	0	PLEKHG4	65871720	0.000000	0.05858	0.014000	0.15608	0.086000	0.17979	0.129000	0.15830	0.507000	0.28148	0.579000	0.79373	TCA		PASS	0.612	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		42	53	42	53	---	---	---	---
ZFP90	146198	broad.mit.edu	37	16	68592426	68592426	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:68592426G>C	ENST00000570495.1	+	4	503	c.211G>C	c.(211-213)Gag>Cag	p.E71Q	ZFP90_ENST00000563169.2_Missense_Mutation_p.E71Q|ZFP90_ENST00000564323.1_Missense_Mutation_p.E71Q|ZFP90_ENST00000398253.2_Missense_Mutation_p.E71Q			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	71	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.E71Q(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GCAAGGAGAAGAGCCATGGAT	0.423																																						uc010cff.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(211-213)GAG>CAG		zinc finger protein 90							92.0	90.0	90.0					16																	68592426		2166	4294	6460	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68592426G>C	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.211G>C	16.37:g.68592426G>C	ENSP00000460547:p.Glu71Gln					ZFP90_uc002ewb.2_5'UTR|ZFP90_uc002ewc.2_5'UTR|ZFP90_uc002ewd.2_Missense_Mutation_p.E71Q|ZFP90_uc002ewe.2_Missense_Mutation_p.E71Q	p.E71Q	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	4	503	+		Ovarian(137;0.192)	71			KRAB.		B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.211G>C	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136927	0.77775	.	.	ENSG00000184939	ENST00000398253	T	0.47177	0.85	6.03	3.98	0.46160	Krueppel-associated box (2);	.	.	.	.	T	0.47893	0.1470	M	0.64630	1.985	0.28777	N	0.900043	P	0.49961	0.93	P	0.44860	0.462	T	0.48647	-0.9017	9	0.52906	T	0.07	-12.0058	10.0896	0.42439	0.0763:0.0:0.783:0.1406	.	71	Q8TF47	ZFP90_HUMAN	Q	71	ENSP00000381304:E71Q	ENSP00000381304:E71Q	E	+	1	0	ZFP90	67149927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.020000	0.57189	2.861000	0.98227	0.655000	0.94253	GAG		PASS	0.423	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		25	50	25	50	---	---	---	---
MBTPS1	8720	broad.mit.edu	37	16	84103622	84103622	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:84103622T>G	ENST00000343411.3	-	14	2299	c.1804A>C	c.(1804-1806)Act>Cct	p.T602P	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	602					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.T602P(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACTGTTGAAGTCTGTTCTGCA	0.408																																						uc002fhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1804-1806)ACT>CCT		membrane-bound transcription factor site-1							110.0	118.0	115.0					16																	84103622		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84103622T>G	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1804A>C	16.37:g.84103622T>G	ENSP00000344223:p.Thr602Pro					MBTPS1_uc002fhh.2_Missense_Mutation_p.T106P	p.T602P	NM_003791	NP_003782	Q14703	MBTP1_HUMAN			14	2306	-			602			Lumenal (Potential).		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.1804A>C	CCDS10941.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.62|14.62	2.589712|2.589712	0.46214|0.46214	.|.	.|.	ENSG00000140943|ENSG00000140943	ENST00000347334|ENST00000343411	.|T	.|0.31769	.|1.48	5.7|5.7	4.59|4.59	0.56863|0.56863	.|.	.|0.240081	.|0.48767	.|D	.|0.000161	T|T	0.24967|0.24967	0.0606|0.0606	L|L	0.46157|0.46157	1.445|1.445	0.44194|0.44194	D|D	0.997011|0.997011	.|B	.|0.17667	.|0.023	.|B	.|0.21360	.|0.034	T|T	0.08310|0.08310	-1.0728|-1.0728	6|10	0.15952|0.36615	T|T	0.53|0.2	-25.7758|-25.7758	7.0973|7.0973	0.25317|0.25317	0.1298:0.0703:0.0:0.8|0.1298:0.0703:0.0:0.8	.|.	.|602	.|Q14703	.|MBTP1_HUMAN	A|P	47|602	.|ENSP00000344223:T602P	ENSP00000342515:D47A|ENSP00000344223:T602P	D|T	-|-	2|1	0|0	MBTPS1|MBTPS1	82661123|82661123	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.949000|4.949000	0.63596|0.63596	2.167000|2.167000	0.68274|0.68274	0.528000|0.528000	0.53228|0.53228	GAC|ACT		PASS	0.408	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		132	206	132	206	---	---	---	---
KIAA0513	9764	broad.mit.edu	37	16	85100945	85100945	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:85100945G>T	ENST00000566428.1	+	2	899	c.268G>T	c.(268-270)Gaa>Taa	p.E90*	KIAA0513_ENST00000567328.1_Nonsense_Mutation_p.E90*|KIAA0513_ENST00000538274.1_Nonsense_Mutation_p.E90*|KIAA0513_ENST00000258180.3_Nonsense_Mutation_p.E90*			O60268	K0513_HUMAN	KIAA0513	90						cytoplasm (GO:0005737)		p.E90*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TACCCAGGATGAAGAGACCCT	0.617																																						uc002fiu.2																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(268-270)GAA>TAA		hypothetical protein LOC9764							74.0	57.0	63.0					16																	85100945		2199	4300	6499	SO:0001587	stop_gained	9764					cytoplasm		g.chr16:85100945G>T	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.268G>T	16.37:g.85100945G>T	ENSP00000457408:p.Glu90*					KIAA0513_uc002fis.3_Nonsense_Mutation_p.E90*|KIAA0513_uc010voj.1_Nonsense_Mutation_p.E90*|KIAA0513_uc002fit.2_Nonsense_Mutation_p.E90*	p.E90*	NM_014732	NP_055547	O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	2	488	+			90					B4DSS5|D3DUM2|Q8N6G0	Nonsense_Mutation	SNP	ENST00000566428.1	37	c.268G>T	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	G	36	5.935922	0.97122	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	.	.	.	4.68	3.72	0.42706	.	0.323684	0.31051	N	0.008347	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.6415	12.0377	0.53435	0.0857:0.0:0.9143:0.0	.	.	.	.	X	90	.	ENSP00000258180:E90X	E	+	1	0	KIAA0513	83658446	1.000000	0.71417	0.878000	0.34440	0.387000	0.30353	4.200000	0.58433	1.090000	0.41315	0.655000	0.94253	GAA		PASS	0.617	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		28	56	28	56	---	---	---	---
CDK10	8558	broad.mit.edu	37	16	89761139	89761139	+	Silent	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:89761139C>A	ENST00000353379.7	+	10	778	c.735C>A	c.(733-735)atC>atA	p.I245I	CDK10_ENST00000505473.1_Silent_p.I174I|CDK10_ENST00000331006.8_Silent_p.I198I	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	245	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.I245I(1)		ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CTTCCGAGATCCACCAGATCG	0.677																																						uc010cio.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(733-735)ATC>ATA		cyclin-dependent kinase 10 isoform a							19.0	14.0	16.0					16																	89761139		2186	4291	6477	SO:0001819	synonymous_variant	8558				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr16:89761139C>A	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.735C>A	16.37:g.89761139C>A						CDK10_uc002fob.2_3'UTR|CDK10_uc002fod.2_Silent_p.I174I|CDK10_uc002foe.2_Silent_p.I174I|CDK10_uc002fof.2_Silent_p.I174I|CDK10_uc002fog.3_Silent_p.I174I|CDK10_uc002foh.3_Silent_p.I174I|CDK10_uc002foi.2_5'Flank	p.I245I	NM_052988	NP_443714	Q15131	CDK10_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0276)	10	778	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	245			Protein kinase.		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Silent	SNP	ENST00000353379.7	37	c.735C>A	CCDS10984.2																																																																																				PASS	0.677	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			3	9	3	9	---	---	---	---
FANCA	2175	broad.mit.edu	37	16	89836993	89836993	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr16:89836993G>A	ENST00000389301.3	-	24	2231	c.2201C>T	c.(2200-2202)tCc>tTc	p.S734F	FANCA_ENST00000568369.1_Missense_Mutation_p.S734F|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	734					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S734F(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGCGACACTGGAGGCAGCCAT	0.642			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002fou.1			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	D|Mis|N|F|S	"""Fanconi anemia, complementation group A"""			L		AML|leukemia			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(2200-2202)TCC>TTC	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group A isoform							53.0	41.0	45.0					16																	89836993		2198	4299	6497	SO:0001583	missense	2175	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89836993G>A	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2201C>T	16.37:g.89836993G>A	ENSP00000373952:p.Ser734Phe					FANCA_uc010vpn.1_Missense_Mutation_p.S734F	p.S734F	NM_000135	NP_000126	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	24	2243	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	734					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.2201C>T	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.173736	0.38413	.	.	ENSG00000187741	ENST00000389301	D	0.90444	-2.67	4.9	1.67	0.24075	.	0.326661	0.28268	N	0.015975	D	0.92463	0.7607	M	0.71581	2.175	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.60173	0.87;0.87	D	0.90594	0.4539	10	0.87932	D	0	-13.0861	8.5885	0.33672	0.0:0.3128:0.5252:0.1619	.	734;734	B4DRI7;O15360	.;FANCA_HUMAN	F	734	ENSP00000373952:S734F	ENSP00000373952:S734F	S	-	2	0	FANCA	88364494	0.998000	0.40836	0.894000	0.35097	0.081000	0.17604	2.382000	0.44345	0.167000	0.19631	0.555000	0.69702	TCC		PASS	0.642	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			10	14	10	14	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(535-537)CAT>CGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	47.0	47.0					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.2_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.1_Missense_Mutation_p.H140R	p.H179R	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	730	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		PASS	0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		34	9	34	9	---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8215492	8215492	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr17:8215492A>T	ENST00000361926.3	+	2	245	c.135A>T	c.(133-135)gaA>gaT	p.E45D	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.E45D	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	45	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E45D(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CTCCACAAGAACTACCCCGAA	0.642																																						uc002glc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(133-135)GAA>GAT		Rho guanine exchange factor 15							95.0	103.0	100.0					17																	8215492		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215492A>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.135A>T	17.37:g.8215492A>T	ENSP00000355026:p.Glu45Asp					ARHGEF15_uc002glb.1_Missense_Mutation_p.E45D|ARHGEF15_uc002gld.2_Missense_Mutation_p.E45D|ARHGEF15_uc010vuw.1_Missense_Mutation_p.E45D	p.E45D	NM_173728	NP_776089	O94989	ARHGF_HUMAN			2	256	+			45			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.135A>T	CCDS11139.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.19|11.19	1.564997|1.564997	0.27915|0.27915	.|.	.|.	ENSG00000198844|ENSG00000198844	ENST00000361926;ENST00000421050|ENST00000455564	T;T|.	0.71461|.	-0.57;-0.57|.	5.0|5.0	-0.0367|-0.0367	0.13887|0.13887	.|.	0.614040|.	0.14749|.	N|.	0.300662|.	T|T	0.18676|0.18676	0.0448|0.0448	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.24657|0.24657	-1.0154|-1.0154	10|6	0.16420|0.66056	T|D	0.52|0.02	0.8476|0.8476	0.8775|0.8775	0.01227|0.01227	0.4979:0.1635:0.1809:0.1577|0.4979:0.1635:0.1809:0.1577	.|.	45;45|.	D3DTR7;O94989|.	.;ARHGF_HUMAN|.	D|I	45|7	ENSP00000355026:E45D;ENSP00000412505:E45D|.	ENSP00000355026:E45D|ENSP00000413324:N7I	E|N	+|+	3|2	2|0	ARHGEF15|ARHGEF15	8156217|8156217	0.420000|0.420000	0.25457|0.25457	0.709000|0.709000	0.30452|0.30452	0.932000|0.932000	0.56968|0.56968	0.908000|0.908000	0.28545|0.28545	0.077000|0.077000	0.16863|0.16863	0.529000|0.529000	0.55759|0.55759	GAA|AAC		PASS	0.642	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		69	11	69	11	---	---	---	---
TOP3A	7156	broad.mit.edu	37	17	18212202	18212202	+	Nonsense_Mutation	SNP	A	A	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr17:18212202A>C	ENST00000321105.5	-	2	448	c.234T>G	c.(232-234)taT>taG	p.Y78*	TOP3A_ENST00000582230.1_5'UTR|TOP3A_ENST00000542570.1_Missense_Mutation_p.M8R	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	78	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)	p.Y78*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTACCTGGCCATACAGATGAT	0.279																																						uc002gsx.1																			1	Substitution - Nonsense(1)		lung(1)	skin(3)	3						c.(232-234)TAT>TAG		topoisomerase (DNA) III alpha							32.0	30.0	31.0					17																	18212202		2201	4294	6495	SO:0001587	stop_gained	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18212202A>C	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.234T>G	17.37:g.18212202A>C	ENSP00000321636:p.Tyr78*					TOP3A_uc002gsw.1_5'Flank|TOP3A_uc010vxs.1_Missense_Mutation_p.M1R|TOP3A_uc010cqa.1_Intron	p.Y78*	NM_004618	NP_004609	Q13472	TOP3A_HUMAN			2	463	-			78			Toprim.		A8KA61|B4DK80|D3DXC7|Q13473	Nonsense_Mutation	SNP	ENST00000321105.5	37	c.234T>G	CCDS11194.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	15.42|15.42|15.42	2.828279|2.828279|2.828279	0.50845|0.50845|0.50845	.|.|.	.|.|.	ENSG00000177302|ENSG00000177302|ENSG00000177302	ENST00000542570|ENST00000412083|ENST00000321105	T|.|.	0.07114|.|.	3.22|.|.	5.04|5.04|5.04	1.6|1.6|1.6	0.23607|0.23607|0.23607	.|.|.	.|.|0.456309	.|.|0.26122	.|.|N	.|.|0.026201	T|T|.	0.28366|0.28366|.	0.0701|0.0701|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	B|.|.	0.25521|.|.	0.128|.|.	B|.|.	0.21546|.|.	0.035|.|.	T|T|.	0.17806|0.17806|.	-1.0357|-1.0357|.	8|4|.	0.02654|.|0.02654	T|.|T	1|.|1	0.2059|0.2059|0.2059	8.5828|8.5828|8.5828	0.33640|0.33640|0.33640	0.774:0.0:0.226:0.0|0.774:0.0:0.226:0.0|0.774:0.0:0.226:0.0	.|.|.	8|.|.	B4DK80|.|.	.|.|.	R|G|X	8|58|78	ENSP00000442336:M8R|.|.	ENSP00000442336:M8R|.|ENSP00000321636:Y78X	M|W|Y	-|-|-	2|1|3	0|0|2	TOP3A|TOP3A|TOP3A	18152927|18152927|18152927	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.445000|0.445000|0.445000	0.26908|0.26908|0.26908	0.876000|0.876000|0.876000	0.50452|0.50452|0.50452	1.956000|1.956000|1.956000	0.40382|0.40382|0.40382	0.045000|0.045000|0.045000	0.15804|0.15804|0.15804	-0.376000|-0.376000|-0.376000	0.06991|0.06991|0.06991	ATG|TGG|TAT		PASS	0.279	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			14	17	14	17	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959607	27959607	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr17:27959607C>T	ENST00000269033.3	-	15	2675	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.E869K	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	842					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E842K(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGCTGGTTCCCCTTCTTCC	0.577																																						uc002heo.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2524-2526)GAA>AAA		slingshot 2							153.0	134.0	141.0					17																	27959607		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959607C>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2524G>A	17.37:g.27959607C>T	ENSP00000269033:p.Glu842Lys					SSH2_uc010wbh.1_Missense_Mutation_p.E869K	p.E842K	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			15	2524	-			842					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.2524G>A	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420821	0.62622	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.09817	2.94;2.94	6.08	5.11	0.69529	.	0.640603	0.16699	N	0.203212	T	0.12646	0.0307	L	0.60455	1.87	0.58432	D	0.999991	P;P	0.43094	0.763;0.799	B;B	0.42282	0.382;0.318	T	0.04664	-1.0935	10	0.48119	T	0.1	-4.4686	5.1552	0.15031	0.1592:0.6483:0.0:0.1925	.	869;842	F5H527;Q76I76	.;SSH2_HUMAN	K	842;869	ENSP00000269033:E842K;ENSP00000444743:E869K	ENSP00000269033:E842K	E	-	1	0	SSH2	24983733	0.110000	0.22057	0.998000	0.56505	0.862000	0.49288	1.667000	0.37471	1.586000	0.49944	0.655000	0.94253	GAA		PASS	0.577	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		215	49	215	49	---	---	---	---
AP2B1	163	broad.mit.edu	37	17	33951435	33951435	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr17:33951435C>T	ENST00000262325.7	+	6	1098	c.545C>T	c.(544-546)gCg>gTg	p.A182V	AP2B1_ENST00000312678.8_Missense_Mutation_p.A182V|AP2B1_ENST00000537622.2_Missense_Mutation_p.A182V|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.A144V|AP2B1_ENST00000538556.1_Missense_Mutation_p.A125V|AP2B1_ENST00000589344.1_Missense_Mutation_p.A182V	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	182					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)	p.A182V(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AATGCCGTAGCGGCATTATCT	0.463																																						uc002hjr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(544-546)GCG>GTG		adaptor-related protein complex 2, beta 1							122.0	108.0	113.0					17																	33951435		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33951435C>T	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.545C>T	17.37:g.33951435C>T	ENSP00000262325:p.Ala182Val					AP2B1_uc002hjq.2_Missense_Mutation_p.A182V|AP2B1_uc010wci.1_Missense_Mutation_p.A144V|AP2B1_uc002hjs.2_Missense_Mutation_p.A125V|AP2B1_uc002hjt.2_Missense_Mutation_p.A182V|AP2B1_uc010ctv.2_Missense_Mutation_p.A182V|AP2B1_uc010wcj.1_5'UTR	p.A182V	NM_001282	NP_001273	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	6	734	+		Ovarian(249;0.17)	182					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.545C>T	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	C	34	5.411574	0.96072	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	6.05	6.05	0.98169	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	0.98;1.0;0.992	P;D;B	0.68039	0.833;0.955;0.407	T	0.08186	-1.0734	10	0.62326	D	0.03	-7.6035	19.5894	0.95501	0.0:1.0:0.0:0.0	.	144;182;182	B4DWG4;P63010;P63010-2	.;AP2B1_HUMAN;.	V	182;182;125;182	ENSP00000262325:A182V;ENSP00000314414:A182V;ENSP00000440563:A125V;ENSP00000437413:A182V	ENSP00000262325:A182V	A	+	2	0	AP2B1	30975548	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.663000	0.83820	2.878000	0.98634	0.650000	0.86243	GCG		PASS	0.463	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			113	122	113	122	---	---	---	---
RPL19	6143	broad.mit.edu	37	17	37357551	37357551	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr17:37357551G>A	ENST00000225430.4	+	2	153	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	RPL19_ENST00000582193.1_Missense_Mutation_p.E29K|RPL19_ENST00000579374.1_Missense_Mutation_p.E28K|RPL19_ENST00000579260.1_Missense_Mutation_p.E29K	NM_000981.3	NP_000972.1	P84098	RL19_HUMAN	ribosomal protein L19	31					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.E31K(1)		kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						TGAGACCAATGAAATCGCCAA	0.483																																						uc002hrq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(91-93)GAA>AAA		ribosomal protein L19							80.0	79.0	80.0					17																	37357551		1912	4130	6042	SO:0001583	missense	6143				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr17:37357551G>A		CCDS42312.1	17q12	2012-09-20			ENSG00000108298	ENSG00000108298		"""L ribosomal proteins"""	10312	protein-coding gene	gene with protein product	"""60S ribosomal protein L19"", ""ribosomal protein L19, cytosolic, N-terminus truncated"""	180466				1577483	Standard	XM_005257564		Approved	FLJ27452, MGC71997, DKFZp779D216, L19	uc002hrq.1	P84098	OTTHUMG00000178979	ENST00000225430.4:c.91G>A	17.37:g.37357551G>A	ENSP00000225430:p.Glu31Lys					RPL19_uc002hrr.1_Missense_Mutation_p.E29K	p.E31K	NM_000981	NP_000972	P84098	RL19_HUMAN			2	153	+			31					B2R4K2|P14118|P22908|Q502Y6|Q7Z6E4	Missense_Mutation	SNP	ENST00000225430.4	37	c.91G>A	CCDS42312.1	.	.	.	.	.	.	.	.	.	.	g	23.3	4.403575	0.83230	.	.	ENSG00000108298	ENST00000225430	.	.	.	4.7	4.7	0.59300	Ribosomal protein L19/L19e (2);Ribosomal protein L19/L19e, domain 1 (1);	0.136204	0.46758	D	0.000266	T	0.71221	0.3314	M	0.77103	2.36	0.80722	D	1	B	0.18741	0.03	B	0.27608	0.081	T	0.72686	-0.4218	9	0.66056	D	0.02	.	17.6176	0.88072	0.0:0.0:1.0:0.0	.	31	P84098	RL19_HUMAN	K	31	.	ENSP00000225430:E31K	E	+	1	0	RPL19	34611077	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.465000	0.97660	2.169000	0.68431	0.313000	0.20887	GAA		PASS	0.483	RPL19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444190.1	NM_000981		36	222	36	222	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37627540	37627540	+	Silent	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr17:37627540G>A	ENST00000447079.4	+	2	1488	c.1455G>A	c.(1453-1455)gaG>gaA	p.E485E	CDK12_ENST00000430627.2_Silent_p.E485E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	485					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E485E(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGTTGGATGAGAACTCCGAGA	0.393			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.2				Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					1	Substitution - coding silent(1)		lung(1)	ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(1453-1455)GAG>GAA		Cdc2-related kinase, arginine/serine-rich							107.0	113.0	111.0					17																	37627540		2203	4300	6503	SO:0001819	synonymous_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37627540G>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1455G>A	17.37:g.37627540G>A		TCGA Ovarian(9;0.13)				CDK12_uc010wef.1_Silent_p.E484E|CDK12_uc002hrw.3_Silent_p.E485E	p.E485E	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			2	2041	+			485					A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	c.1455G>A	CCDS11337.1																																																																																				PASS	0.393	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		309	221	309	221	---	---	---	---
MED24	9862	broad.mit.edu	37	17	38189317	38189317	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr17:38189317G>A	ENST00000394128.2	-	8	895	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	MED24_ENST00000501516.3_Missense_Mutation_p.R291C|MED24_ENST00000356271.3_Missense_Mutation_p.R259C|MED24_ENST00000394127.2_Missense_Mutation_p.R259C|MED24_ENST00000394126.1_Missense_Mutation_p.R297C|MED24_ENST00000479829.1_5'Flank	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	272					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R272C(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					ACCTGCATGCGCTTCACCATC	0.642																																						uc002htt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(814-816)CGC>TGC		mediator complex subunit 24 isoform 1							46.0	39.0	42.0					17																	38189317		2203	4300	6503	SO:0001583	missense	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38189317G>A	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.814C>T	17.37:g.38189317G>A	ENSP00000377686:p.Arg272Cys					MED24_uc010wes.1_Missense_Mutation_p.R132C|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.R297C|MED24_uc002htu.2_Missense_Mutation_p.R259C|MED24_uc010cwn.2_Missense_Mutation_p.R259C|MED24_uc010weu.1_Missense_Mutation_p.R182C|MED24_uc010wev.1_Missense_Mutation_p.R222C|MED24_uc010wew.1_Missense_Mutation_p.R201C|MED24_uc010wex.1_Intron|MED24_uc010wez.1_Missense_Mutation_p.R113C|MED24_uc010wfa.1_Missense_Mutation_p.R241C|MED24_uc010wfb.1_Missense_Mutation_p.R284C	p.R272C	NM_014815	NP_055630	O75448	MED24_HUMAN			8	1127	-	Colorectal(19;0.000442)		272					A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	c.814C>T	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080244	0.36662	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000543759;ENST00000431269;ENST00000428757	T;T;T	0.55052	0.54;0.54;0.54	5.48	3.31	0.37934	Mediator complex, subunit Med24, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	M	0.64997	1.995	0.80722	D	1	D;D;D;D;B;B;B;D	0.89917	1.0;1.0;1.0;1.0;0.116;0.049;0.06;1.0	D;D;D;D;B;B;B;D	0.97110	0.994;0.991;1.0;0.984;0.017;0.011;0.019;0.995	T	0.66995	-0.5782	10	0.87932	D	0	-12.5217	8.3948	0.32550	0.0876:0.0:0.65:0.2624	.	259;222;201;222;182;259;272;214	B9TX65;B4DV99;B4DDR8;F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;.;.;.;MED24_HUMAN;.	C	272;272;272;222;259;214;246;182;291	ENSP00000377686:R272C;ENSP00000443344:R222C;ENSP00000377685:R259C	ENSP00000348610:R272C	R	-	1	0	MED24	35442843	1.000000	0.71417	0.989000	0.46669	0.889000	0.51656	3.998000	0.57024	1.331000	0.45412	-0.136000	0.14681	CGC		PASS	0.642	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		13	143	13	143	---	---	---	---
ATP6V0A1	535	broad.mit.edu	37	17	40630546	40630546	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr17:40630546G>T	ENST00000343619.4	+	7	695	c.572G>T	c.(571-573)tGc>tTc	p.C191F	ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.C148F|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.C198F|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.C191F|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.C191F|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.C148F	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	191					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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.C191F(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TGGCGGGTATGCCGGGGAAAT	0.532																																						uc002hzr.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)	pancreas(1)	1						c.(571-573)TGC>TTC		ATPase, H+ transporting, lysosomal V0 subunit a1							109.0	93.0	98.0					17																	40630546		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40630546G>T	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.572G>T	17.37:g.40630546G>T	ENSP00000342951:p.Cys191Phe					ATP6V0A1_uc002hzq.2_Missense_Mutation_p.C191F|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.C198F|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.C148F|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.C148F|ATP6V0A1_uc010cyg.2_Intron|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.C50F	p.C191F	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	7	739	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	191			Cytoplasmic (Potential).		B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.572G>T	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116508	0.94385	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.94152	0.8124	M	0.81614	2.55	0.80722	D	1	D;P;P;D;P	0.89917	1.0;0.93;0.572;1.0;0.839	D;P;P;D;P	0.97110	1.0;0.819;0.649;0.999;0.601	D	0.93817	0.7115	10	0.66056	D	0.02	-20.9064	20.3931	0.98965	0.0:0.0:1.0:0.0	.	148;148;198;191;191	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	F	191;191;191;198;148	ENSP00000342951:C191F;ENSP00000444676:C191F;ENSP00000377415:C191F;ENSP00000264649:C198F;ENSP00000443991:C148F	ENSP00000264649:C198F	C	+	2	0	ATP6V0A1	37884072	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.894000	0.87336	2.824000	0.97209	0.655000	0.94253	TGC		PASS	0.532	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		8	69	8	69	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44108963	44108963	+	Missense_Mutation	SNP	C	C	A	rs368475798		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr17:44108963C>A	ENST00000262419.6	-	15	3667	c.3197G>T	c.(3196-3198)cGc>cTc	p.R1066L	KANSL1_ENST00000575318.1_Missense_Mutation_p.R1002L|KANSL1_ENST00000393476.3_Missense_Mutation_p.R360L|KANSL1_ENST00000432791.1_Missense_Mutation_p.R1066L|KANSL1_ENST00000574590.1_Missense_Mutation_p.R1066L|KANSL1_ENST00000572904.1_Missense_Mutation_p.R1066L	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	1066	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R1066L(1)									GCCTGAGGTGCGTCGAGTGCA	0.687																																						uc002ikb.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(3196-3198)CGC>CTC		hypothetical protein LOC284058							36.0	32.0	34.0					17																	44108963		2203	4298	6501	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44108963C>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.3197G>T	17.37:g.44108963C>A	ENSP00000262419:p.Arg1066Leu					KIAA1267_uc002ikc.2_Missense_Mutation_p.R1066L|KIAA1267_uc002ikd.2_Missense_Mutation_p.R1066L|KIAA1267_uc010dav.2_Missense_Mutation_p.R1065L|KIAA1267_uc010wkb.1_Missense_Mutation_p.R397L|KIAA1267_uc010wkc.1_Missense_Mutation_p.R334L	p.R1066L	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN			14	3282	-		Melanoma(429;0.211)	1066					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.3197G>T	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184474	0.78677	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.32515	2.3;2.3;1.45	5.54	5.54	0.83059	.	0.147488	0.44902	D	0.000411	T	0.29491	0.0735	L	0.27053	0.805	0.44807	D	0.997812	P;P;P;P	0.48230	0.907;0.907;0.792;0.792	P;P;B;B	0.44623	0.455;0.455;0.361;0.361	T	0.02852	-1.1102	10	0.51188	T	0.08	-8.7734	18.0627	0.89382	0.0:1.0:0.0:0.0	.	334;397;1066;1066	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	L	1066;1066;360	ENSP00000262419:R1066L;ENSP00000387393:R1066L;ENSP00000377117:R360L	ENSP00000262419:R1066L	R	-	2	0	KIAA1267	41464810	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.586000	0.60984	2.604000	0.88044	0.561000	0.74099	CGC		PASS	0.687	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		36	3	36	3	---	---	---	---
MAP2K6	5608	broad.mit.edu	37	17	67513001	67513001	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr17:67513001C>A	ENST00000590474.1	+	3	376	c.89C>A	c.(88-90)cCt>cAt	p.P30H	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	30					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.P30H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CTTAGACCACCTCGAGATTTA	0.373																																						uc002jij.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|pancreas(1)	5						c.(88-90)CCT>CAT		mitogen-activated protein kinase kinase 6							161.0	148.0	153.0					17																	67513001		2203	4300	6503	SO:0001583	missense	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67513001C>A	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.89C>A	17.37:g.67513001C>A	ENSP00000468348:p.Pro30His					MAP2K6_uc002jii.2_Missense_Mutation_p.P30H|MAP2K6_uc002jik.2_Missense_Mutation_p.P60H	p.P30H	NM_002758	NP_002749	P52564	MP2K6_HUMAN			3	377	+	Breast(10;6.05e-10)		30						Missense_Mutation	SNP	ENST00000590474.1	37	c.89C>A	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523249	0.85600	.	.	ENSG00000108984	ENST00000359094	T	0.71341	-0.56	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.80982	2.52	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	P;P;P	0.62649	0.894;0.905;0.905	D	0.84410	0.0565	9	.	.	.	-9.448	18.2727	0.90073	0.0:1.0:0.0:0.0	.	60;30;30	Q6MZH7;P52564;A8K3Y2	.;MP2K6_HUMAN;.	H	30	ENSP00000351997:P30H	.	P	+	2	0	MAP2K6	65024596	1.000000	0.71417	0.998000	0.56505	0.870000	0.49936	7.073000	0.76784	2.663000	0.90544	0.585000	0.79938	CCT		PASS	0.373	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		95	14	95	14	---	---	---	---
GAA	2548	broad.mit.edu	37	17	78085891	78085891	+	Silent	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr17:78085891C>T	ENST00000302262.3	+	12	1965	c.1746C>T	c.(1744-1746)gcC>gcT	p.A582A	GAA_ENST00000390015.3_Silent_p.A582A	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	582					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.A582A(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	AAGCCATCGCCTCCCACAGGT	0.652																																						uc002jxo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1744-1746)GCC>GCT		acid alpha-glucosidase preproprotein	Acarbose(DB00284)						104.0	87.0	93.0					17																	78085891		2203	4300	6503	SO:0001819	synonymous_variant	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78085891C>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1746C>T	17.37:g.78085891C>T						GAA_uc002jxp.2_Silent_p.A582A|GAA_uc002jxq.2_Silent_p.A582A	p.A582A	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		13	1928	+	all_neural(118;0.117)		582					Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	c.1746C>T	CCDS32760.1																																																																																				PASS	0.652	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			77	14	77	14	---	---	---	---
ZNF750	79755	broad.mit.edu	37	17	80788546	80788546	+	Silent	SNP	G	G	A	rs138155684	byFrequency	TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr17:80788546G>A	ENST00000269394.3	-	3	2477	c.1644C>T	c.(1642-1644)gaC>gaT	p.D548D	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Silent_p.D149D	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	548					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.D548D(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGAGTGGAAGGTCCTGCAGCT	0.607													G|||	3	0.000599042	0.0	0.0	5008	,	,		16158	0.0		0.003	False		,,,				2504	0.0					uc002kga.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1642-1644)GAC>GAT		zinc finger protein 750		G	,	0,4406		0,0,2203	55.0	59.0	58.0		,1644	-0.8	0.9	17	dbSNP_134	58	13,8585	9.1+/-34.3	0,13,4286	no	intron,coding-synonymous	TBCD,ZNF750	NM_005993.4,NM_024702.2	,	0,13,6489	AA,AG,GG		0.1512,0.0,0.1	,	,548/724	80788546	13,12991	2203	4299	6502	SO:0001819	synonymous_variant	79755					intracellular	zinc ion binding	g.chr17:80788546G>A	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1644C>T	17.37:g.80788546G>A						TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.D548D	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		3	1955	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	548					Q9H899	Silent	SNP	ENST00000269394.3	37	c.1644C>T	CCDS11819.1																																																																																				PASS	0.607	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		163	26	163	26	---	---	---	---
LPIN2	9663	broad.mit.edu	37	18	2937714	2937714	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr18:2937714C>A	ENST00000261596.4	-	7	1382	c.1144G>T	c.(1144-1146)Gta>Tta	p.V382L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	382					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)	p.V382L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGCGAGTCTACTTTAGCTGCC	0.443																																						uc002klo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1144-1146)GTA>TTA		lipin 2							54.0	56.0	55.0					18																	2937714		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2937714C>A	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1144G>T	18.37:g.2937714C>A	ENSP00000261596:p.Val382Leu						p.V382L	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	7	1383	-			382					A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.1144G>T	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	C	3.746	-0.052556	0.07362	.	.	ENSG00000101577	ENST00000261596	T	0.79940	-1.32	5.74	4.83	0.62350	.	0.521532	0.21672	N	0.070855	T	0.64516	0.2605	N	0.20685	0.6	0.24662	N	0.993462	B	0.02656	0.0	B	0.04013	0.001	T	0.42699	-0.9436	10	0.09590	T	0.72	.	11.5483	0.50706	0.0:0.7334:0.1896:0.0771	.	382	Q92539	LPIN2_HUMAN	L	382	ENSP00000261596:V382L	ENSP00000261596:V382L	V	-	1	0	LPIN2	2927714	0.990000	0.36364	0.999000	0.59377	0.956000	0.61745	0.453000	0.21811	2.715000	0.92844	0.655000	0.94253	GTA		PASS	0.443	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		55	50	55	50	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5428401	5428401	+	Silent	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr18:5428401G>T	ENST00000341928.2	-	9	1316	c.976C>A	c.(976-978)Cgg>Agg	p.R326R	EPB41L3_ENST00000400111.3_Silent_p.R326R|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Silent_p.R326R|EPB41L3_ENST00000544123.1_Silent_p.R326R|EPB41L3_ENST00000540638.2_Silent_p.R326R	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	326	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.R326R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATTCGCAGCCGGTCGCGATAT	0.418																																						uc002kmt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(976-978)CGG>AGG		erythrocyte membrane protein band 4.1-like 3							140.0	144.0	143.0					18																	5428401		2203	4300	6503	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5428401G>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.976C>A	18.37:g.5428401G>T						EPB41L3_uc010wzh.1_Silent_p.R326R|EPB41L3_uc002kmu.1_Silent_p.R326R|EPB41L3_uc010dkq.1_Silent_p.R217R|EPB41L3_uc010dks.1_Silent_p.R348R	p.R326R	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			9	1062	-			326			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.976C>A	CCDS11838.1																																																																																				PASS	0.418	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		135	152	135	152	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	7037633	7037634	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr18:7037633_7037634GC>TT	ENST00000389658.3	-	12	1773_1774	c.1680_1681GC>AA	c.(1678-1683)atGCag>atAAag	p.560_561MQ>IK		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	560	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.M560_Q561>IK(1)|p.Q561K(1)|p.M560I(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCCAGTCTCTGCATGACCGCGG	0.579																																						uc002knm.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(1681-1683)CAG>AAG|c.(1678-1680)ATG>ATA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7037633G>T|g.chr18:7037634C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1680_1681delinsTT	18.37:g.7037633_7037634delinsTT	ENSP00000374309:p.M560_Q561delinsIK					LAMA1_uc010wzj.1_Missense_Mutation_p.Q37K|LAMA1_uc010wzj.1_Missense_Mutation_p.M36I	p.Q561K|p.M560I	NM_005559	NP_005550	P25391	LAMA1_HUMAN			12	1775|1774	-		Colorectal(10;0.172)	561|560			Laminin IV type A 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.1681C>A|c.1680G>A	CCDS32787.1																																																																																				PASS	0.579	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		60|59	82|83	59	82	---	---	---	---
ESCO1	114799	broad.mit.edu	37	18	19154258	19154258	+	Nonsense_Mutation	SNP	T	T	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr18:19154258T>A	ENST00000269214.5	-	4	1484	c.547A>T	c.(547-549)Aag>Tag	p.K183*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	183					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.K183*(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						GAGTCAGACTTTACTTCCAGT	0.348																																						uc002kth.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(547-549)AAG>TAG		establishment of cohesion 1 homolog 1							100.0	98.0	99.0					18																	19154258		2203	4300	6503	SO:0001587	stop_gained	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19154258T>A	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.547A>T	18.37:g.19154258T>A	ENSP00000269214:p.Lys183*					ESCO1_uc002kti.1_RNA	p.K183*	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN			4	1481	-			183					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Nonsense_Mutation	SNP	ENST00000269214.5	37	c.547A>T	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	T	43	10.116885	0.99340	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	.	.	.	5.7	4.53	0.55603	.	0.374368	0.25543	N	0.029943	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.7477	10.3785	0.44096	0.0:0.0739:0.0:0.9261	.	.	.	.	X	183	.	ENSP00000269214:K183X	K	-	1	0	ESCO1	17408256	0.180000	0.23148	0.136000	0.22124	0.895000	0.52256	1.932000	0.40143	0.985000	0.38656	0.533000	0.62120	AAG		PASS	0.348	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		10	209	10	209	---	---	---	---
CCDC102B	79839	broad.mit.edu	37	18	66513560	66513560	+	Missense_Mutation	SNP	G	G	T	rs267605245		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr18:66513560G>T	ENST00000360242.5	+	4	955	c.838G>T	c.(838-840)Gct>Tct	p.A280S	CCDC102B_ENST00000584156.1_Missense_Mutation_p.A280S|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.S294I|CCDC102B_ENST00000319445.6_Missense_Mutation_p.A280S	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	280								p.A280S(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AATGCGCACAGCTTTGGAAAA	0.328																																						uc002lkk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(838-840)GCT>TCT		coiled-coil domain containing 102B							45.0	46.0	45.0					18																	66513560		2200	4299	6499	SO:0001583	missense	79839							g.chr18:66513560G>T	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.838G>T	18.37:g.66513560G>T	ENSP00000353377:p.Ala280Ser					CCDC102B_uc002lki.2_Missense_Mutation_p.A280S|CCDC102B_uc002lkj.1_Missense_Mutation_p.A280S	p.A280S	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN			6	1061	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	280			Potential.		Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	c.838G>T	CCDS11996.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.15|11.15	1.555047|1.555047	0.27739|0.27739	.|.	.|.	ENSG00000150636|ENSG00000150636	ENST00000319445;ENST00000360242|ENST00000358653	T;T|T	0.10860|0.18810	2.83;2.83|2.19	5.56|5.56	3.44|3.44	0.39384|0.39384	.|.	0.330234|.	0.26390|.	N|.	0.024642|.	T|T	0.10465|0.10465	0.0256|0.0256	N|N	0.05177|0.05177	-0.1|-0.1	0.22034|0.22034	N|N	0.999407|0.999407	B;B|.	0.12630|.	0.006;0.006|.	B;B|.	0.14023|.	0.007;0.01|.	T|T	0.25293|0.25293	-1.0136|-1.0136	10|7	0.09338|0.42905	T|T	0.73|0.14	-5.4679|-5.4679	5.9518|5.9518	0.19250|0.19250	0.1223:0.0:0.282:0.5957|0.1223:0.0:0.282:0.5957	.|.	280;280|.	Q68D86-3;Q68D86|.	.;C102B_HUMAN|.	S|I	280|294	ENSP00000316237:A280S;ENSP00000353377:A280S|ENSP00000351479:S294I	ENSP00000316237:A280S|ENSP00000351479:S294I	A|S	+|+	1|2	0|0	CCDC102B|CCDC102B	64664540|64664540	0.918000|0.918000	0.31147|0.31147	0.905000|0.905000	0.35620|0.35620	0.976000|0.976000	0.68499|0.68499	1.492000|1.492000	0.35594|0.35594	0.640000|0.640000	0.30582|0.30582	0.650000|0.650000	0.86243|0.86243	GCT|AGC		PASS	0.328	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		24	50	24	50	---	---	---	---
ADNP2	22850	broad.mit.edu	37	18	77875529	77875529	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr18:77875529T>G	ENST00000262198.4	+	2	559	c.104T>G	c.(103-105)cTg>cGg	p.L35R		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	35					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L35R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AAGGAGTTACTGAAGGTAAGA	0.413																																						uc002lnw.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(103-105)CTG>CGG		ADNP homeobox 2							77.0	71.0	73.0					18																	77875529		2203	4300	6503	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77875529T>G	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.104T>G	18.37:g.77875529T>G	ENSP00000262198:p.Leu35Arg						p.L35R	NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	2	559	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	35					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.104T>G	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.831962	0.71258	.	.	ENSG00000101544	ENST00000262198	T	0.71934	-0.61	4.8	4.8	0.61643	.	0.132552	0.33327	N	0.005035	T	0.73505	0.3595	L	0.40543	1.245	0.32623	N	0.523013	D	0.57899	0.981	P	0.58873	0.847	T	0.78209	-0.2293	9	.	.	.	-11.84	12.7245	0.57162	0.0:0.0:0.0:1.0	.	35	Q6IQ32	ADNP2_HUMAN	R	35	ENSP00000262198:L35R	.	L	+	2	0	ADNP2	75976520	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	4.647000	0.61418	2.022000	0.59522	0.383000	0.25322	CTG		PASS	0.413	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		30	40	30	40	---	---	---	---
SPPL2B	56928	broad.mit.edu	37	19	2337594	2337594	+	RNA	SNP	C	C	A	rs192000517|rs35767987		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:2337594C>A	ENST00000452401.2	+	0	419							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)	p.R113R(2)					Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGAGCACGCGGGCTGCTCA	0.692																																						uc002lvs.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)		0						c.(337-339)CGC>CGA		signal peptide peptidase-like 2B isoform 2							28.0	32.0	31.0					19																	2337594		2034	4164	6198			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2337594C>A		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2337594C>A						SPPL2B_uc010dsw.1_Silent_p.R85R|SPPL2B_uc010dsy.1_Silent_p.R85R|SPPL2B_uc010dsz.1_Silent_p.R113R|SPPL2B_uc002lvr.2_Silent_p.R113R|SPPL2B_uc010dta.1_5'Flank|SPPL2B_uc002lvu.2_5'Flank	p.R113R	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	419	+		Hepatocellular(1079;0.137)	113			Cytoplasmic (Potential).|PA.		D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	Silent	SNP	ENST00000452401.2	37	c.339C>A																																																																																					PASS	0.692	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		NM_020172		34	23	34	23	---	---	---	---
VAV1	7409	broad.mit.edu	37	19	6833552	6833552	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:6833552C>G	ENST00000602142.1	+	17	1706	c.1624C>G	c.(1624-1626)Cag>Gag	p.Q542E	VAV1_ENST00000304076.2_Missense_Mutation_p.Q542E|VAV1_ENST00000599806.1_Missense_Mutation_p.Q487E|VAV1_ENST00000596764.1_Missense_Mutation_p.Q510E|VAV1_ENST00000539284.1_Missense_Mutation_p.Q445E	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	542					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q542E(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TACCTTCTATCAGGGCTACCG	0.547																																						uc002mfu.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.(1624-1626)CAG>GAG		vav 1 guanine nucleotide exchange factor							96.0	97.0	96.0					19																	6833552		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6833552C>G		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1624C>G	19.37:g.6833552C>G	ENSP00000472929:p.Gln542Glu					VAV1_uc010xjh.1_Missense_Mutation_p.Q510E|VAV1_uc010dva.1_Missense_Mutation_p.Q542E|VAV1_uc002mfv.1_Missense_Mutation_p.Q487E	p.Q542E	NM_005428	NP_005419	P15498	VAV_HUMAN			17	1721	+			542			Phorbol-ester/DAG-type.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1624C>G	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663460	0.47572	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.94280	-3.39;-3.39	4.73	4.73	0.59995	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.139951	0.49305	D	0.000145	D	0.97542	0.9195	H	0.96662	3.86	0.80722	D	1	P;P;D;D	0.63880	0.804;0.924;0.99;0.993	B;B;P;P	0.62813	0.185;0.446;0.907;0.824	D	0.98342	1.0539	10	0.52906	T	0.07	.	15.188	0.73020	0.0:1.0:0.0:0.0	.	445;542;487;542	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	E	542;445	ENSP00000302269:Q542E;ENSP00000443242:Q445E	ENSP00000302269:Q542E	Q	+	1	0	VAV1	6784552	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	6.977000	0.76141	2.199000	0.70637	0.491000	0.48974	CAG		PASS	0.547	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			109	76	109	76	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9058161	9058161	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:9058161A>T	ENST00000397910.4	-	3	29488	c.29285T>A	c.(29284-29286)cTc>cAc	p.L9762H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9764	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L9762H(1)|p.L5395H(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGCCTGGGAGGATAAGTGA	0.488																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(29284-29286)CTC>CAC		mucin 16							60.0	56.0	57.0					19																	9058161		1923	4138	6061	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058161A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29285T>A	19.37:g.9058161A>T	ENSP00000381008:p.Leu9762His						p.L9762H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	29489	-			9764			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29285T>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	4.392	0.072282	0.08436	.	.	ENSG00000181143	ENST00000397910	T	0.23552	1.9	2.81	0.598	0.17512	.	.	.	.	.	T	0.20820	0.0501	N	0.08118	0	.	.	.	D	0.59767	0.986	P	0.59012	0.85	T	0.24083	-1.0170	8	0.87932	D	0	.	4.8015	0.13299	0.3255:0.0:0.6745:0.0	.	9762	B5ME49	.	H	9762	ENSP00000381008:L9762H	ENSP00000381008:L9762H	L	-	2	0	MUC16	8919161	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.139000	0.16036	0.217000	0.20800	-0.479000	0.04858	CTC		PASS	0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	39	11	39	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9075886	9075886	+	Missense_Mutation	SNP	C	C	T	rs374165503		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:9075886C>T	ENST00000397910.4	-	3	11763	c.11560G>A	c.(11560-11562)Ggg>Agg	p.G3854R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3855	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.G3854R(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGTCTGCCCTTGTCTCTGA	0.483																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(11560-11562)GGG>AGG		mucin 16							166.0	147.0	153.0					19																	9075886		2022	4187	6209	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075886C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11560G>A	19.37:g.9075886C>T	ENSP00000381008:p.Gly3854Arg						p.G3854R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	11764	-			3855			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.11560G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.748	-0.052141	0.07362	.	.	ENSG00000181143	ENST00000397910	T	0.03607	3.87	1.67	-0.6	0.11642	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	P	0.38370	0.628	B	0.28232	0.087	T	0.44832	-0.9302	8	0.87932	D	0	.	4.1008	0.10012	0.0:0.5859:0.0:0.4141	.	3854	B5ME49	.	R	3854	ENSP00000381008:G3854R	ENSP00000381008:G3854R	G	-	1	0	MUC16	8936886	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-0.758000	0.04766	-0.096000	0.12329	0.205000	0.17691	GGG		PASS	0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		68	73	68	73	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9089841	9089841	+	Silent	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:9089841C>A	ENST00000397910.4	-	1	2177	c.1974G>T	c.(1972-1974)acG>acT	p.T658T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	658	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T658T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCCAGCAGCCGTCTTGCTCA	0.532																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(1972-1974)ACG>ACT		mucin 16							128.0	128.0	128.0					19																	9089841		2081	4219	6300	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089841C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1974G>T	19.37:g.9089841C>A							p.T658T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	2178	-			658			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.1974G>T	CCDS54212.1																																																																																				PASS	0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		97	97	97	97	---	---	---	---
OR7G3	390883	broad.mit.edu	37	19	9236952	9236952	+	Silent	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:9236952G>A	ENST00000305444.2	-	1	674	c.675C>T	c.(673-675)gtC>gtT	p.V225V		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V225V(1)		NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GAATTTTCATGACAGAGGAGA	0.423																																						uc010xkl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(673-675)GTC>GTT		olfactory receptor, family 7, subfamily G,							93.0	97.0	96.0					19																	9236952		2203	4300	6503	SO:0001819	synonymous_variant	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9236952G>A		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.675C>T	19.37:g.9236952G>A							p.V225V	NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN			1	675	-			225			Cytoplasmic (Potential).		Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	c.675C>T	CCDS32899.1																																																																																				PASS	0.423	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			40	93	40	93	---	---	---	---
ZNF559	84527	broad.mit.edu	37	19	9453741	9453741	+	Silent	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:9453741G>T	ENST00000393883.2	+	6	2262	c.1614G>T	c.(1612-1614)gtG>gtT	p.V538V	ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000587557.1_Silent_p.V602V|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000605471.1_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000603380.1_Silent_p.V538V|ZNF559_ENST00000538743.1_Silent_p.V458V	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	538					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V538V(1)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CTGAATGTGTGTGAATTGGGG	0.393																																						uc002mlg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1612-1614)GTG>GTT		zinc finger protein 559							107.0	98.0	101.0					19																	9453741		2203	4300	6503	SO:0001819	synonymous_variant	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9453741G>T	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1614G>T	19.37:g.9453741G>T						ZNF559_uc002mlf.2_Silent_p.V307V|ZNF559_uc010dwl.1_Silent_p.V307V|ZNF559_uc010xkn.1_Silent_p.V530V|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Silent_p.V602V|ZNF559_uc010dwk.1_Silent_p.V307V|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	p.V538V	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN			7	2261	+			538					K7EMG6	Silent	SNP	ENST00000393883.2	37	c.1614G>T	CCDS12211.1																																																																																				PASS	0.393	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		46	98	46	98	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10600417	10600417	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:10600417C>A	ENST00000171111.5	-	4	1985	c.1438G>T	c.(1438-1440)Ggg>Tgg	p.G480W	KEAP1_ENST00000393623.2_Missense_Mutation_p.G480W|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	480					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.G480W(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CGGTTTGTCCCGTCAAAGCCC	0.582																																						uc002moq.1																			2	Substitution - Missense(2)		lung(2)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1438-1440)GGG>TGG		kelch-like ECH-associated protein 1							90.0	72.0	78.0					19																	10600417		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10600417C>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1438G>T	19.37:g.10600417C>A	ENSP00000171111:p.Gly480Trp					KEAP1_uc002mop.1_Missense_Mutation_p.G198W|KEAP1_uc002mor.1_Missense_Mutation_p.G480W	p.G480W	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		4	1594	-			480			Kelch 4.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1438G>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596251	0.66332	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.71579	-0.58;-0.58	5.79	5.79	0.91817	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.90160	0.6925	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93107	0.6513	10	0.87932	D	0	.	17.5827	0.87973	0.0:1.0:0.0:0.0	.	480	Q14145	KEAP1_HUMAN	W	480	ENSP00000171111:G480W;ENSP00000377245:G480W	ENSP00000171111:G480W	G	-	1	0	KEAP1	10461417	1.000000	0.71417	0.816000	0.32577	0.173000	0.22820	7.509000	0.81698	2.752000	0.94435	0.558000	0.71614	GGG		PASS	0.582	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		32	17	32	17	---	---	---	---
RGL3	57139	broad.mit.edu	37	19	11510944	11510944	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:11510944G>T	ENST00000380456.3	-	14	1577	c.1514C>A	c.(1513-1515)cCa>cAa	p.P505Q	RGL3_ENST00000393423.3_Missense_Mutation_p.P505Q|RGL3_ENST00000568628.1_5'Flank	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	505	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.P269Q(1)|p.P505Q(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GGAGGCAGCTGGTGGCTCAAT	0.607																																					GBM(174;751 2067 17998 27979 33959)	uc002mrp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1513-1515)CCA>CAA		ral guanine nucleotide dissociation							72.0	69.0	70.0					19																	11510944		2203	4300	6503	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11510944G>T	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1514C>A	19.37:g.11510944G>T	ENSP00000369823:p.Pro505Gln					RGL3_uc002mrn.2_Missense_Mutation_p.P269Q|RGL3_uc002mrm.2_Missense_Mutation_p.P269Q|RGL3_uc002mro.2_Missense_Mutation_p.P505Q	p.P505Q	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN			14	1578	-			505			Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.1514C>A	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.853211	0.71719	.	.	ENSG00000205517	ENST00000342684;ENST00000393423;ENST00000380456	T;T	0.32515	1.45;1.45	5.53	5.53	0.82687	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.63022	0.2476	M	0.88181	2.935	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.81914	0.995;0.986;0.995;0.97	T	0.69727	-0.5067	10	0.72032	D	0.01	.	16.939	0.86210	0.0:0.0:1.0:0.0	.	505;505;505;302	Q3MIN7;B5ME84;B7ZL22;Q8TEP0	RGL3_HUMAN;.;.;.	Q	302;505;505	ENSP00000377075:P505Q;ENSP00000369823:P505Q	ENSP00000344665:P302Q	P	-	2	0	RGL3	11371944	1.000000	0.71417	0.488000	0.27440	0.785000	0.44390	3.120000	0.50430	2.610000	0.88304	0.462000	0.41574	CCA		PASS	0.607	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		44	42	44	42	---	---	---	---
ZNF44	51710	broad.mit.edu	37	19	12383910	12383910	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:12383910T>A	ENST00000356109.5	-	5	1422	c.1304A>T	c.(1303-1305)cAc>cTc	p.H435L	ZNF44_ENST00000355684.5_Missense_Mutation_p.H387L	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H387L(1)		ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		ATCTCCAGTGTGTGCCATCAT	0.428																																						uc010xmj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1303-1305)CAC>CTC		zinc finger protein 44 isoform 1							83.0	85.0	84.0					19																	12383910		2203	4300	6503	SO:0001583	missense	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12383910T>A	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1304A>T	19.37:g.12383910T>A	ENSP00000348419:p.His435Leu					ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.H387L	p.H435L	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	1509	-		Renal(1328;0.157)	435			C2H2-type 9.		B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	c.1304A>T	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.145387	0.77888	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.67345	-0.26;-0.26;-0.26	1.06	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85414	0.5691	H	0.97516	4.02	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.86569	0.1846	8	0.87932	D	0	.	7.6159	0.28158	0.0:0.0:0.0:1.0	.	435;387	P15621;F8W7T7	ZNF44_HUMAN;.	L	435;435;387;387	ENSP00000377008:H435L;ENSP00000348419:H435L;ENSP00000347910:H387L	ENSP00000347910:H387L	H	-	2	0	ZNF44	12244910	1.000000	0.71417	0.009000	0.14445	0.821000	0.46438	4.480000	0.60243	0.753000	0.32945	0.254000	0.18369	CAC		PASS	0.428	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		58	47	58	47	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30934929	30934929	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:30934929G>C	ENST00000355537.3	+	2	607	c.460G>C	c.(460-462)Ggc>Cgc	p.G154R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	154					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.G154R(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CACGCACACGGGCGAGAAGCC	0.642																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(460-462)GGC>CGC		zinc finger protein 536							54.0	47.0	49.0					19																	30934929		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934929G>C		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.460G>C	19.37:g.30934929G>C	ENSP00000347730:p.Gly154Arg					ZNF536_uc010edd.1_Missense_Mutation_p.G154R	p.G154R	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	598	+	Esophageal squamous(110;0.0834)		154					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.460G>C	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468688	0.63625	.	.	ENSG00000198597	ENST00000355537	T	0.26223	1.75	5.67	5.67	0.87782	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	L	0.55743	1.74	0.58432	D	0.999998	D;D	0.89917	0.998;1.0	D;D	0.97110	0.972;1.0	T	0.41052	-0.9530	10	0.59425	D	0.04	-28.2529	19.7691	0.96356	0.0:0.0:1.0:0.0	.	154;154	A7E228;O15090	.;ZN536_HUMAN	R	154	ENSP00000347730:G154R	ENSP00000347730:G154R	G	+	1	0	ZNF536	35626769	1.000000	0.71417	0.979000	0.43373	0.989000	0.77384	7.868000	0.87116	2.689000	0.91719	0.462000	0.41574	GGC		PASS	0.642	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		32	48	32	48	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31040372	31040372	+	Silent	SNP	T	T	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:31040372T>A	ENST00000355537.3	+	4	3993	c.3846T>A	c.(3844-3846)ctT>ctA	p.L1282L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1282					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.L1282L(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTAACGGACTTGCAAGTAGCA	0.502																																						uc002nsu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(3844-3846)CTT>CTA		zinc finger protein 536							49.0	49.0	49.0					19																	31040372		2183	4242	6425	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040372T>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3846T>A	19.37:g.31040372T>A						ZNF536_uc010edd.1_Silent_p.L1282L	p.L1282L	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3984	+	Esophageal squamous(110;0.0834)		1282					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3846T>A	CCDS32984.1																																																																																				PASS	0.502	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		63	99	63	99	---	---	---	---
ZNF30	90075	broad.mit.edu	37	19	35424541	35424541	+	Missense_Mutation	SNP	G	G	T	rs190884569	byFrequency	TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:35424541G>T	ENST00000601142.1	+	4	407	c.170G>T	c.(169-171)cGt>cTt	p.R57L	ZNF30_ENST00000595818.1_3'UTR|ZNF30_ENST00000439785.1_Missense_Mutation_p.R58L|ZNF30_ENST00000303586.7_Missense_Mutation_p.R58L|ZNF30_ENST00000601957.1_Missense_Mutation_p.R57L|ZNF30_ENST00000426813.2_5'UTR			P17039	ZNF30_HUMAN	zinc finger protein 30	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R58L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GGACATTCCCGTTCTAAACCA	0.378																																						uc010edp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(169-171)CGT>CTT		zinc finger protein 30 isoform b							84.0	74.0	77.0					19																	35424541		1932	4153	6085	SO:0001583	missense	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35424541G>T	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.170G>T	19.37:g.35424541G>T	ENSP00000469954:p.Arg57Leu					ZNF30_uc002nxf.2_5'UTR|ZNF30_uc010edq.1_Missense_Mutation_p.R58L|ZNF30_uc010edr.1_Missense_Mutation_p.R58L	p.R57L	NM_194325	NP_919306	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	4	548	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		57			KRAB.		A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	c.170G>T	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	T	2.276	-0.365913	0.05069	.	.	ENSG00000168661	ENST00000439785;ENST00000303586	T	0.00711	5.8	1.52	0.413	0.16401	Krueppel-associated box (3);	.	.	.	.	T	0.00328	0.0010	N	0.00656	-1.285	0.09310	N	0.999995	B;B	0.13594	0.008;0.002	B;B	0.10450	0.005;0.0	T	0.40175	-0.9577	9	0.13470	T	0.59	.	5.9533	0.19259	0.0:0.0:0.566:0.434	.	58;57	P17039-2;P17039	.;ZNF30_HUMAN	L	58;57	ENSP00000403441:R58L	ENSP00000303889:R57L	R	+	2	0	ZNF30	40116381	0.009000	0.17119	0.033000	0.17914	0.829000	0.46940	-0.293000	0.08320	-0.343000	0.08351	-0.443000	0.05667	CGT		PASS	0.378	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		9	7	9	7	---	---	---	---
HPN	3249	broad.mit.edu	37	19	35551594	35551594	+	Silent	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:35551594C>T	ENST00000262626.2	+	9	1509	c.684C>T	c.(682-684)caC>caT	p.H228H	HPN_ENST00000597419.1_Silent_p.H70H|HPN_ENST00000392226.1_Silent_p.H228H|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	228	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)	p.H228H(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCTCTCCCCACGGTCTGCAGC	0.662																																						uc002nxq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(682-684)CAC>CAT		hepsin	Coagulation factor VIIa(DB00036)						72.0	67.0	69.0					19																	35551594		2203	4300	6503	SO:0001819	synonymous_variant	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35551594C>T		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.684C>T	19.37:g.35551594C>T						HPN_uc002nxr.1_Silent_p.H228H|HPN_uc002nxs.1_Silent_p.H70H|HPN_uc010xsh.1_Silent_p.H197H|HPN_uc002nxt.1_Silent_p.H112H|LOC100128675_uc010xsi.1_Intron	p.H228H	NM_002151	NP_002142	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		10	929	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		228			Extracellular (Potential).|Peptidase S1.		B2RDS4	Silent	SNP	ENST00000262626.2	37	c.684C>T	CCDS32993.1																																																																																				PASS	0.662	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		4	110	4	110	---	---	---	---
CD22	933	broad.mit.edu	37	19	35837481	35837481	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:35837481A>C	ENST00000085219.5	+	14	2491	c.2425A>C	c.(2425-2427)Aac>Cac	p.N809H	CD22_ENST00000341773.6_Missense_Mutation_p.N632H|CD22_ENST00000594250.1_Missense_Mutation_p.N632H|CD22_ENST00000544992.2_3'UTR|CD22_ENST00000270311.6_Missense_Mutation_p.N624H|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000419549.2_Missense_Mutation_p.N637H|CD22_ENST00000536635.2_Missense_Mutation_p.N721H	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	809					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.N809H(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGACTATGAGAACGTCATTCC	0.547																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|breast(1)	9						c.(2425-2427)AAC>CAC		CD22 molecule precursor	OspA lipoprotein(DB00045)						51.0	39.0	43.0					19																	35837481		2203	4299	6502	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35837481A>C	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2425A>C	19.37:g.35837481A>C	ENSP00000085219:p.Asn809His					CD22_uc010xst.1_Missense_Mutation_p.N637H|CD22_uc010edu.2_Missense_Mutation_p.N721H|CD22_uc010edv.2_3'UTR|CD22_uc002nzb.3_Missense_Mutation_p.N632H|CD22_uc010edx.2_RNA	p.N809H	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		14	2502	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		809			Cytoplasmic (Potential).		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2425A>C	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.007373	0.54361	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000270311;ENST00000419549	T;T;T;T;T	0.63580	0.54;0.07;-0.05;0.58;0.62	4.58	4.58	0.56647	.	0.000000	0.51477	D	0.000087	T	0.77089	0.4079	M	0.77616	2.38	0.35036	D	0.759221	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.986;0.999;0.986;0.999	D	0.84504	0.0618	10	0.87932	D	0	.	10.3295	0.43814	1.0:0.0:0.0:0.0	.	637;721;809;632	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	H	809;721;632;624;637	ENSP00000085219:N809H;ENSP00000442279:N721H;ENSP00000339349:N632H;ENSP00000270311:N624H;ENSP00000403822:N637H	ENSP00000085219:N809H	N	+	1	0	CD22	40529321	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	3.970000	0.56824	1.952000	0.56665	0.378000	0.23410	AAC		PASS	0.547	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		6	14	6	14	---	---	---	---
ARHGAP33	115703	broad.mit.edu	37	19	36277800	36277800	+	Silent	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:36277800C>T	ENST00000007510.4	+	20	2572	c.2428C>T	c.(2428-2430)Ctg>Ttg	p.L810L	ARHGAP33_ENST00000314737.5_Silent_p.L649L|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Silent_p.L674L			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	810					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)	p.L649L(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TGTCCTAGAACTGCTGGGGGC	0.706																																						uc002obr.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(2428-2430)CTG>TTG		sorting nexin 26							9.0	12.0	11.0					19																	36277800		2180	4270	6450	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36277800C>T	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.2428C>T	19.37:g.36277800C>T						ARHGAP33_uc002obs.1_Silent_p.L649L|ARHGAP33_uc002obt.1_Silent_p.L674L|ARHGAP33_uc010eel.2_Silent_p.L398L|ARHGAP33_uc002obv.1_Silent_p.L398L	p.L810L	NM_052948	NP_443180	O14559	RHG33_HUMAN			20	2513	+			810					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.2428C>T																																																																																					PASS	0.706	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		3	23	3	23	---	---	---	---
ZFP14	57677	broad.mit.edu	37	19	36831374	36831374	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:36831374A>G	ENST00000270001.7	-	5	1469	c.1354T>C	c.(1354-1356)Tat>Cat	p.Y452H		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y452H(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TTACATTCATAAGGTTTCTCA	0.398																																						uc002odx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1354-1356)TAT>CAT		zinc finger protein 14-like							107.0	102.0	104.0					19																	36831374		2203	4300	6503	SO:0001583	missense	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36831374A>G	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1354T>C	19.37:g.36831374A>G	ENSP00000270001:p.Tyr452His					ZFP14_uc010xtd.1_Missense_Mutation_p.Y453H|ZFP14_uc010eex.1_Missense_Mutation_p.Y452H	p.Y452H	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN			4	1447	-	Esophageal squamous(110;0.162)		452			C2H2-type 11.		A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	c.1354T>C	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	a	16.96	3.265508	0.59431	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.21734	1.99	3.86	3.86	0.44501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.191346	0.26016	N	0.026848	T	0.26738	0.0654	N	0.11818	0.18	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.995;0.997	T	0.13737	-1.0498	10	0.59425	D	0.04	.	12.0505	0.53503	1.0:0.0:0.0:0.0	.	452;452	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	H	452	ENSP00000270001:Y452H	ENSP00000270001:Y452H	Y	-	1	0	ZFP14	41523214	0.218000	0.23608	1.000000	0.80357	0.982000	0.71751	3.975000	0.56859	1.738000	0.51689	0.450000	0.29827	TAT		PASS	0.398	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		41	193	41	193	---	---	---	---
ZNF607	84775	broad.mit.edu	37	19	38189345	38189345	+	Missense_Mutation	SNP	A	A	G	rs146672126		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:38189345A>G	ENST00000355202.4	-	5	2282	c.1687T>C	c.(1687-1689)Tgt>Cgt	p.C563R	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.C562R	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C563R(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CATTCCTTACATTCGTAGGGT	0.418																																						uc002ohc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1687-1689)TGT>CGT		zinc finger protein 607							43.0	40.0	41.0					19																	38189345		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38189345A>G	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1687T>C	19.37:g.38189345A>G	ENSP00000347338:p.Cys563Arg					ZNF607_uc002ohb.1_Missense_Mutation_p.C562R	p.C563R	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	2283	-			563			C2H2-type 16.		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.1687T>C	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.556133	0.86231	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	D;D	0.85258	-1.96;-1.96	1.96	1.96	0.26148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94611	0.8263	H	0.98769	4.325	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93529	0.6868	9	0.87932	D	0	.	8.6485	0.34020	1.0:0.0:0.0:0.0	.	563;562	Q96SK3;F5H141	ZN607_HUMAN;.	R	563;562	ENSP00000347338:C563R;ENSP00000438015:C562R	ENSP00000347338:C563R	C	-	1	0	ZNF607	42881185	0.990000	0.36364	0.637000	0.29366	0.908000	0.53690	4.744000	0.62118	0.891000	0.36235	0.379000	0.24179	TGT		PASS	0.418	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		58	58	58	58	---	---	---	---
PSG2	5670	broad.mit.edu	37	19	43579557	43579557	+	Missense_Mutation	SNP	G	G	A	rs146901045	byFrequency	TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:43579557G>A	ENST00000406487.1	-	3	756	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	220	Ig-like C2-type 1.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R220W(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CCTGAGTTCCGTATTTCACAT	0.507													G|||	13	0.00259585	0.0076	0.0014	5008	,	,		19839	0.001		0.0	False		,,,				2504	0.001					uc002ovr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(658-660)CGG>TGG		pregnancy specific beta-1-glycoprotein 2		G	TRP/ARG	21,4383		2,17,2183	231.0	242.0	238.0		658	-2.7	0.0	19	dbSNP_134	238	2,8594		0,2,4296	no	missense	PSG2	NM_031246.3	101	2,19,6479	AA,AG,GG		0.0233,0.4768,0.1769		220/336	43579557	23,12977	2202	4298	6500	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43579557G>A		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.658C>T	19.37:g.43579557G>A	ENSP00000385706:p.Arg220Trp					PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.R220W|PSG2_uc010eiq.1_Missense_Mutation_p.R220W|PSG2_uc002ovs.3_Missense_Mutation_p.R220W|PSG2_uc002ovt.3_Missense_Mutation_p.R220W	p.R220W	NM_031246	NP_112536	P11465	PSG2_HUMAN			3	751	-		Prostate(69;0.00682)	220			Ig-like C2-type 1.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.658C>T	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.825994	0.00589	0.004768	2.33E-4	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.13901	2.55	1.33	-2.66	0.06077	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07279	0.0184	N	0.17564	0.495	0.09310	N	1	B;B	0.22276	0.034;0.067	B;B	0.27170	0.022;0.077	T	0.24048	-1.0171	9	0.42905	T	0.14	.	2.9936	0.05991	0.3723:0.0:0.3049:0.3227	rs1058092;rs3198702;rs16976439	220;220	B5MCM8;P11465	.;PSG2_HUMAN	W	220	ENSP00000385706:R220W	ENSP00000332984:R220W	R	-	1	2	PSG2	48271397	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.886000	0.00342	-3.875000	0.00096	-3.574000	0.00029	CGG		PASS	0.507	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		196	302	196	302	---	---	---	---
ZNF285	26974	broad.mit.edu	37	19	44891930	44891930	+	Silent	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:44891930G>T	ENST00000330997.4	-	4	541	c.477C>A	c.(475-477)ccC>ccA	p.P159P	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Silent_p.P159P|ZNF285_ENST00000591679.1_Silent_p.P166P	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P159P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GAGAGTTCTGGGGCTCGGTCA	0.443																																						uc002ozd.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(475-477)CCC>CCA		zinc finger protein 285							80.0	81.0	81.0					19																	44891930		2202	4280	6482	SO:0001819	synonymous_variant	26974				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44891930G>T	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.477C>A	19.37:g.44891930G>T						ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.P166P	p.P159P	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN			4	564	-			159					Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	ENST00000330997.4	37	c.477C>A	CCDS12638.1																																																																																				PASS	0.443	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		80	141	80	141	---	---	---	---
PPP1R13L	10848	broad.mit.edu	37	19	45899676	45899676	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:45899676C>T	ENST00000418234.2	-	5	809	c.731G>A	c.(730-732)cGg>cAg	p.R244Q	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.R244Q	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	244	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.R244Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGGAGGCCGCCGGCGCAGCGT	0.652																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(730-732)CGG>CAG		protein phosphatase 1, regulatory subunit 13							49.0	54.0	53.0					19																	45899676		2203	4300	6503	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45899676C>T	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.731G>A	19.37:g.45899676C>T	ENSP00000403902:p.Arg244Gln					PPP1R13L_uc002pbo.2_Missense_Mutation_p.R244Q|PPP1R13L_uc002pbp.2_Missense_Mutation_p.R244Q	p.R244Q	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	808	-		all_neural(266;0.224)|Ovarian(192;0.231)	244			Pro-rich.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.731G>A	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.262020	0.59431	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.57595	0.39;0.39	4.71	4.71	0.59529	.	0.463064	0.23343	N	0.049206	T	0.55049	0.1896	N	0.24115	0.695	0.23657	N	0.997186	D;D	0.89917	1.0;0.993	D;P	0.71870	0.975;0.641	T	0.46871	-0.9160	10	0.20046	T	0.44	.	13.1615	0.59547	0.0:1.0:0.0:0.0	.	244;244	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	Q	244	ENSP00000403902:R244Q;ENSP00000354218:R244Q	ENSP00000354218:R244Q	R	-	2	0	PPP1R13L	50591516	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	3.166000	0.50785	2.168000	0.68352	0.462000	0.41574	CGG		PASS	0.652	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		32	51	32	51	---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46355645	46355645	+	Splice_Site	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:46355645T>C	ENST00000245934.7	-	5	470		c.e5-2			NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin						cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GATGATCTCCTGCCAATGTTA	0.527																																						uc002pdn.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e5-1		symplekin							174.0	171.0	172.0					19																	46355645		2042	4189	6231	SO:0001630	splice_region_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46355645T>C	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.226-2A>G	19.37:g.46355645T>C						SYMPK_uc002pdo.1_Splice_Site_p.E76_splice|SYMPK_uc002pdp.1_Splice_Site_p.E76_splice|SYMPK_uc002pdq.1_Splice_Site_p.E76_splice	p.E76_splice	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	5	471	-		all_neural(266;0.0299)|Ovarian(192;0.0308)						O00521|O00689|O00733|Q59GT5|Q8N2U5	Splice_Site	SNP	ENST00000245934.7	37	c.226_splice	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	T	22.5	4.296461	0.81025	.	.	ENSG00000125755	ENST00000245934;ENST00000340643	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6398	0.56702	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYMPK	51047485	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.345000	0.79337	1.929000	0.55896	0.459000	0.35465	.		PASS	0.527	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819	Intron	68	104	68	104	---	---	---	---
HIF3A	64344	broad.mit.edu	37	19	46834442	46834442	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:46834442A>T	ENST00000377670.4	+	13	1773	c.1742A>T	c.(1741-1743)gAc>gTc	p.D581V	HIF3A_ENST00000420102.2_Missense_Mutation_p.D530V|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Missense_Mutation_p.D579V|HIF3A_ENST00000244303.6_Missense_Mutation_p.D512V|HIF3A_ENST00000600383.1_Missense_Mutation_p.D512V|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000339613.2_Missense_Mutation_p.D525V	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	581	ODD.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.D579V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GAGGACGAGGACGAGGGAGTG	0.567																																						uc002peh.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1741-1743)GAC>GTC		hypoxia inducible factor 3, alpha subunit							88.0	71.0	77.0					19																	46834442		2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46834442A>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1742A>T	19.37:g.46834442A>T	ENSP00000366898:p.Asp581Val					HIF3A_uc002peg.3_Missense_Mutation_p.D581V|HIF3A_uc002pei.3_Missense_Mutation_p.D525V|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.D525V|HIF3A_uc010xxy.1_Missense_Mutation_p.D512V|HIF3A_uc002pel.2_Missense_Mutation_p.D579V|HIF3A_uc010xxz.1_Missense_Mutation_p.D530V	p.D581V	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	13	1771	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	581			ODD.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.1742A>T	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	A	10.10	1.256567	0.22965	.	.	ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	T;T;T;T;T	0.66995	0.53;-0.22;0.41;0.53;-0.24	4.32	-0.638	0.11500	.	.	.	.	.	T	0.45034	0.1322	N	0.14661	0.345	0.27278	N	0.958179	B;B;B;B;B;B	0.26809	0.16;0.084;0.069;0.041;0.041;0.041	B;B;B;B;B;B	0.25405	0.06;0.047;0.037;0.017;0.017;0.017	T	0.32508	-0.9904	9	0.44086	T	0.13	.	7.691	0.28567	0.256:0.6346:0.1095:0.0	.	530;512;579;525;581;581	F5H884;B4DNA2;Q9Y2N7-2;A8MPQ1;Q9Y2N7;B0M185	.;.;.;.;HIF3A_HUMAN;.	V	581;581;512;525;525;579;530	ENSP00000366898:D581V;ENSP00000244303:D512V;ENSP00000341877:D525V;ENSP00000300862:D579V;ENSP00000407771:D530V	ENSP00000244302:D581V	D	+	2	0	HIF3A	51526282	0.042000	0.20092	0.737000	0.30932	0.680000	0.39746	-0.641000	0.05434	-0.068000	0.12953	-0.340000	0.08031	GAC		PASS	0.567	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			32	66	32	66	---	---	---	---
FAM83E	54854	broad.mit.edu	37	19	49107101	49107101	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:49107101C>T	ENST00000263266.3	-	4	1015	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	SPACA4_ENST00000321762.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	276								p.A276T(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		AGGCTGAAGGCGTCAACAATT	0.672																																						uc002pjn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(826-828)GCC>ACC		hypothetical protein LOC54854							36.0	38.0	37.0					19																	49107101		2187	4274	6461	SO:0001583	missense	54854							g.chr19:49107101C>T	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.826G>A	19.37:g.49107101C>T	ENSP00000263266:p.Ala276Thr					SPACA4_uc002pjo.2_5'Flank	p.A276T	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	891	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	276					Q9NXK1	Missense_Mutation	SNP	ENST00000263266.3	37	c.826G>A	CCDS42587.1	.	.	.	.	.	.	.	.	.	.	C	4.699	0.130009	0.08981	.	.	ENSG00000105523	ENST00000263266	T	0.22945	1.93	3.7	1.49	0.22878	.	0.452569	0.19051	N	0.124046	T	0.10035	0.0246	N	0.20685	0.6	0.20307	N	0.999915	P	0.36733	0.567	B	0.32149	0.141	T	0.24835	-1.0149	10	0.07030	T	0.85	-12.7479	4.5096	0.11905	0.219:0.6583:0.0:0.1227	.	276	Q2M2I3	FA83E_HUMAN	T	276	ENSP00000263266:A276T	ENSP00000263266:A276T	A	-	1	0	FAM83E	53798913	0.384000	0.25164	0.332000	0.25469	0.036000	0.12997	0.698000	0.25571	0.192000	0.20272	-0.489000	0.04712	GCC		PASS	0.672	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		26	40	26	40	---	---	---	---
ZNF836	162962	broad.mit.edu	37	19	52659713	52659713	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:52659713T>C	ENST00000322146.8	-	5	1744	c.1223A>G	c.(1222-1224)cAt>cGt	p.H408R	ZNF836_ENST00000597252.1_Missense_Mutation_p.H408R|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H408R(2)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTTTCCACTATGAACTGTCTG	0.418																																						uc010ydi.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1222-1224)CAT>CGT		zinc finger protein 836							112.0	119.0	116.0					19																	52659713		2189	4297	6486	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52659713T>C	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1223A>G	19.37:g.52659713T>C	ENSP00000325038:p.His408Arg					ZNF836_uc010ydj.1_Missense_Mutation_p.H408R	p.H408R	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN			5	1597	-			408			C2H2-type 7.			Missense_Mutation	SNP	ENST00000322146.8	37	c.1223A>G	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.708008	0.48412	.	.	ENSG00000196267	ENST00000322146	T	0.67523	-0.27	1.74	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83151	0.5192	M	0.94063	3.49	0.25938	N	0.982912	D	0.69078	0.997	D	0.77004	0.989	T	0.70234	-0.4928	9	0.87932	D	0	.	6.754	0.23503	0.0:0.0:0.0:1.0	.	408	Q6ZNA1	ZN836_HUMAN	R	408	ENSP00000325038:H408R	ENSP00000325038:H408R	H	-	2	0	ZNF836	57351525	1.000000	0.71417	0.007000	0.13788	0.105000	0.19272	3.698000	0.54771	0.790000	0.33803	0.254000	0.18369	CAT		PASS	0.418	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		6	165	6	165	---	---	---	---
TTYH1	57348	broad.mit.edu	37	19	54940526	54940526	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:54940526G>A	ENST00000376530.3	+	6	879	c.776G>A	c.(775-777)gGc>gAc	p.G259D	AC008746.3_ENST00000457113.1_RNA|TTYH1_ENST00000301194.4_Missense_Mutation_p.G259D|TTYH1_ENST00000376531.3_Missense_Mutation_p.G259D|TTYH1_ENST00000391739.3_Missense_Mutation_p.G308D|TTYH1_ENST00000489425.1_3'UTR	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	259					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)	p.G259D(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CTGAGCTGGGGCTCCATGGGC	0.622																																						uc002qfq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(775-777)GGC>GAC		tweety 1 isoform 1							53.0	55.0	55.0					19																	54940526		2203	4300	6503	SO:0001583	missense	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54940526G>A	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.776G>A	19.37:g.54940526G>A	ENSP00000365713:p.Gly259Asp					TTYH1_uc010yey.1_Missense_Mutation_p.G308D|TTYH1_uc002qfr.2_Missense_Mutation_p.G259D|TTYH1_uc002qft.2_Missense_Mutation_p.G259D|TTYH1_uc002qfu.1_Missense_Mutation_p.G171D	p.G259D	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	6	868	+	Ovarian(34;0.19)		259			Helical; Name=4; (Potential).		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	ENST00000376530.3	37	c.776G>A	CCDS12893.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807143	0.50421	.	.	ENSG00000167614	ENST00000301194;ENST00000376530;ENST00000391739;ENST00000376531	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	3.75	2.65	0.31530	.	0.130932	0.50627	D	0.000118	T	0.14442	0.0349	L	0.48877	1.53	0.52501	D	0.999959	P;B;B;B;B	0.40282	0.711;0.198;0.019;0.033;0.379	B;B;B;B;B	0.42138	0.377;0.081;0.022;0.069;0.272	T	0.03852	-1.0998	10	0.39692	T	0.17	-7.7085	10.7985	0.46474	0.0:0.1949:0.805:0.0	.	308;171;259;259;259	B7Z1H9;Q9H313-5;Q9H313-2;Q9H313-3;Q9H313	.;.;.;.;TTYH1_HUMAN	D	259;259;308;259	ENSP00000301194:G259D;ENSP00000365713:G259D;ENSP00000375619:G308D;ENSP00000365714:G259D	ENSP00000301194:G259D	G	+	2	0	TTYH1	59632338	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.965000	0.56788	0.861000	0.35504	0.462000	0.41574	GGC		PASS	0.622	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1			62	81	62	81	---	---	---	---
RDH13	112724	broad.mit.edu	37	19	55559778	55559778	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:55559778T>C	ENST00000415061.3	-	5	720	c.577A>G	c.(577-579)Aag>Gag	p.K193E	RDH13_ENST00000396247.3_Missense_Mutation_p.K122E|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	193					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)	p.K122E(1)|p.K193E(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	GTGTTATACTTCCTCGTCTGC	0.592																																						uc002qio.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(577-579)AAG>GAG		retinol dehydrogenase 13 isoform 1	Vitamin A(DB00162)						69.0	71.0	71.0					19																	55559778		2009	4167	6176	SO:0001583	missense	112724						binding|oxidoreductase activity	g.chr19:55559778T>C		CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19978	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 3"""		"""retinol dehydrogenase 13 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.577A>G	19.37:g.55559778T>C	ENSP00000391121:p.Lys193Glu					RDH13_uc002qip.2_Missense_Mutation_p.K122E|RDH13_uc010esr.1_RNA	p.K193E	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	5	762	-			193					Q6UX79|Q96G88	Missense_Mutation	SNP	ENST00000415061.3	37	c.577A>G	CCDS54320.1	.	.	.	.	.	.	.	.	.	.	T	10.59	1.393448	0.25205	.	.	ENSG00000160439	ENST00000415061;ENST00000396247;ENST00000291892	D;D;D	0.94931	-3.56;-3.56;-3.56	5.29	1.73	0.24493	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.404803	0.28409	N	0.015443	D	0.85691	0.5755	N	0.25789	0.76	0.30766	N	0.743588	B	0.32245	0.361	B	0.22386	0.039	T	0.78620	-0.2133	10	0.21014	T	0.42	.	6.8848	0.24193	0.0:0.0814:0.2795:0.6391	.	193	Q8NBN7	RDH13_HUMAN	E	193;122;193	ENSP00000391121:K193E;ENSP00000379547:K122E;ENSP00000291892:K193E	ENSP00000291892:K193E	K	-	1	0	RDH13	60251590	1.000000	0.71417	0.614000	0.29051	0.768000	0.43524	4.672000	0.61597	0.392000	0.25172	0.449000	0.29647	AAG		PASS	0.592	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451470.1	NM_138412		47	72	47	72	---	---	---	---
PPP6R1	22870	broad.mit.edu	37	19	55743015	55743015	+	Silent	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:55743015G>A	ENST00000412770.2	-	20	2894	c.2328C>T	c.(2326-2328)ccC>ccT	p.P776P	AC010327.1_ENST00000581390.1_RNA|TMEM86B_ENST00000327042.4_5'Flank|PPP6R1_ENST00000587283.1_Silent_p.P776P	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	776	Pro-rich.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)	p.P776P(1)		breast(1)	1						GAGGTGCTGAGGGGGGTGTGG	0.672																																						uc002qjw.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2326-2328)CCC>CCT		SAPS domain family, member 1							24.0	28.0	27.0					19																	55743015		1986	4157	6143	SO:0001819	synonymous_variant	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55743015G>A	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.2328C>T	19.37:g.55743015G>A						TMEM86B_uc002qjt.2_5'Flank|TMEM86B_uc002qju.2_5'Flank|SAPS1_uc002qjv.2_Silent_p.P838P	p.P776P	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	20	2570	-		Renal(1328;0.245)	776			Pro-rich.		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Silent	SNP	ENST00000412770.2	37	c.2328C>T	CCDS46186.1																																																																																				PASS	0.672	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		19	2	19	2	---	---	---	---
ZNF835	90485	broad.mit.edu	37	19	57175617	57175617	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:57175617T>C	ENST00000537055.2	-	2	1181	c.950A>G	c.(949-951)cAg>cGg	p.Q317R		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	317					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q339R(2)|p.G334fs*26(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGAGGCGCTCTGGCTGAAGAG	0.701																																						uc010ygo.1																			3	Substitution - Missense(2)|Deletion - Frameshift(1)	p.G334fs*26(1)	lung(2)|pancreas(1)	pancreas(3)|skin(1)	4						c.(1015-1017)CAG>CGG		zinc finger protein 835							16.0	17.0	17.0					19																	57175617		2199	4294	6493	SO:0001583	missense	90485							g.chr19:57175617T>C	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.950A>G	19.37:g.57175617T>C	ENSP00000444747:p.Gln317Arg					ZNF835_uc010ygn.1_Missense_Mutation_p.Q317R	p.Q339R	NM_001005850	NP_001005850					2	1016	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.1016A>G	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.472210	0.43942	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.35605	1.3	2.27	2.27	0.28462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17365	0.0417	N	0.03983	-0.305	0.09310	N	0.999997	P	0.40230	0.708	P	0.45639	0.488	T	0.11616	-1.0580	9	0.13853	T	0.58	.	4.0184	0.09654	0.0:0.1709:0.0:0.8291	.	339	Q9Y2P0	ZN835_HUMAN	R	339;317	ENSP00000444747:Q317R	ENSP00000341756:Q339R	Q	-	2	0	ZNF835	61867429	0.000000	0.05858	0.945000	0.38365	0.852000	0.48524	-0.537000	0.06128	1.301000	0.44836	0.459000	0.35465	CAG		PASS	0.701	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		4	8	4	8	---	---	---	---
DUXA	503835	broad.mit.edu	37	19	57669821	57669821	+	Missense_Mutation	SNP	G	G	A	rs145101590		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:57669821G>A	ENST00000554048.2	-	4	312	c.313C>T	c.(313-315)Cgt>Tgt	p.R105C		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R105C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TAGGTGGTACGACACCGTCTG	0.468																																						uc002qoa.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(313-315)CGT>TGT		double homeobox A		G	CYS/ARG	0,4406		0,0,2203	70.0	70.0	70.0		313	1.8	0.0	19	dbSNP_134	70	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DUXA	NM_001012729.1	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	105/205	57669821	2,13004	2203	4300	6503	SO:0001583	missense	503835					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:57669821G>A		CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"""Homeoboxes / PRD class"""	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.313C>T	19.37:g.57669821G>A	ENSP00000452398:p.Arg105Cys						p.R105C	NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)	4	358	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	105			Homeobox 2.			Missense_Mutation	SNP	ENST00000554048.2	37	c.313C>T	CCDS33126.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314573	0.23908	0.0	2.33E-4	ENSG00000258873	ENST00000554048	D	0.99186	-5.53	2.85	1.81	0.25067	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.522447	0.14524	N	0.314287	D	0.98207	0.9407	M	0.93106	3.38	0.09310	N	1	B	0.29671	0.254	B	0.27715	0.082	D	0.97593	1.0118	10	0.62326	D	0.03	-3.0855	5.5894	0.17293	0.1524:0.0:0.8476:0.0	.	105	A6NLW8	DUXA_HUMAN	C	105	ENSP00000452398:R105C	ENSP00000365415:R105C	R	-	1	0	DUXA	62361633	0.113000	0.22115	0.029000	0.17559	0.002000	0.02628	0.922000	0.28734	0.763000	0.33175	0.655000	0.94253	CGT		PASS	0.468	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729		51	82	51	82	---	---	---	---
ZNF548	147694	broad.mit.edu	37	19	57910184	57910184	+	Nonsense_Mutation	SNP	G	G	T	rs369371650		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:57910184G>T	ENST00000366197.5	+	3	779	c.529G>T	c.(529-531)Gag>Tag	p.E177*	ZNF548_ENST00000336128.7_Nonsense_Mutation_p.E189*|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E189*(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCTCAAAGCGAGTGGAAGCC	0.512																																						uc002qom.2																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(529-531)GAG>TAG		zinc finger protein 548							61.0	63.0	63.0					19																	57910184		2048	4207	6255	SO:0001587	stop_gained	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910184G>T	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.529G>T	19.37:g.57910184G>T	ENSP00000379482:p.Glu177*					ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Nonsense_Mutation_p.E180*	p.E177*	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	779	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	177					Q96M05	Nonsense_Mutation	SNP	ENST00000366197.5	37	c.529G>T	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155831	0.94686	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	.	.	.	2.29	1.1	0.20463	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	4.257	0.10722	0.2436:0.0:0.7564:0.0	.	.	.	.	X	189;177	.	ENSP00000337555:E189X	E	+	1	0	ZNF548	62601996	.	.	0.001000	0.08648	0.429000	0.31625	.	.	0.433000	0.26313	0.591000	0.81541	GAG		PASS	0.512	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		36	53	36	53	---	---	---	---
ZSCAN1	284312	broad.mit.edu	37	19	58549521	58549521	+	Missense_Mutation	SNP	G	G	T	rs370395921		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:58549521G>T	ENST00000282326.1	+	3	564	c.317G>T	c.(316-318)tGc>tTc	p.C106F	ZSCAN1_ENST00000601162.1_Missense_Mutation_p.C106F|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.C106F	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	106	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.C106F(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCCGAAGCTGCAGGGAGGCC	0.692																																						uc002qrc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(316-318)TGC>TTC		zinc finger and SCAN domain containing 1		G	PHE/CYS	1,4301		0,1,2150	11.0	12.0	11.0		317	1.1	0.0	19		11	0,8432		0,0,4216	no	missense	ZSCAN1	NM_182572.3	205	0,1,6366	TT,TG,GG		0.0,0.0232,0.0079	possibly-damaging	106/409	58549521	1,12733	2151	4216	6367	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58549521G>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.317G>T	19.37:g.58549521G>T	ENSP00000282326:p.Cys106Phe					ZSCAN1_uc002qra.1_Missense_Mutation_p.C106F|ZSCAN1_uc002qrb.1_Missense_Mutation_p.C106F	p.C106F	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	3	564	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	106			SCAN box.		Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.317G>T	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654354	0.47467	2.32E-4	0.0	ENSG00000152467	ENST00000391700;ENST00000282326	T;T	0.04317	3.65;3.65	2.21	1.08	0.20341	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.17789	0.0427	M	0.81497	2.545	0.09310	N	1	D;D	0.76494	0.996;0.999	D;D	0.83275	0.972;0.996	T	0.05084	-1.0907	9	0.59425	D	0.04	.	5.8778	0.18838	0.0:0.0:0.6872:0.3128	.	106;106	Q8NBB4;Q8NBB4-2	ZSCA1_HUMAN;.	F	106	ENSP00000375581:C106F;ENSP00000282326:C106F	ENSP00000282326:C106F	C	+	2	0	ZSCAN1	63241333	0.000000	0.05858	0.004000	0.12327	0.778000	0.44026	0.470000	0.22084	0.237000	0.21200	0.393000	0.25936	TGC		PASS	0.692	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		7	9	7	9	---	---	---	---
ZBTB45	84878	broad.mit.edu	37	19	59028370	59028370	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr19:59028370T>A	ENST00000594051.1	-	2	1151	c.671A>T	c.(670-672)gAa>gTa	p.E224V	ZBTB45_ENST00000354590.3_Missense_Mutation_p.E224V|ZBTB45_ENST00000600990.1_Missense_Mutation_p.E224V			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E224V(1)		breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GCCGCCACCTTCGCCATCCTC	0.662											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	uc002qtd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(670-672)GAA>GTA		zinc finger and BTB domain containing 45							190.0	198.0	195.0					19																	59028370		2203	4299	6502	SO:0001583	missense	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028370T>A	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.671A>T	19.37:g.59028370T>A	ENSP00000469089:p.Glu224Val		OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_uc002qte.2_Missense_Mutation_p.E224V|ZBTB45_uc002qtf.2_Missense_Mutation_p.E224V	p.E224V	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	963	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	224						Missense_Mutation	SNP	ENST00000594051.1	37	c.671A>T	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	t	16.59	3.164739	0.57476	.	.	ENSG00000119574	ENST00000354590	T	0.09723	2.95	3.35	2.31	0.28768	.	0.890646	0.09342	U	0.815249	T	0.07234	0.0183	N	0.14661	0.345	0.27682	N	0.946394	B	0.33694	0.421	B	0.35470	0.203	T	0.35500	-0.9786	10	0.56958	D	0.05	.	6.379	0.21523	0.0:0.1356:0.0:0.8644	.	224	Q96K62	ZBT45_HUMAN	V	224	ENSP00000346603:E224V	ENSP00000346603:E224V	E	-	2	0	ZBTB45	63720182	0.001000	0.12720	0.524000	0.27887	0.611000	0.37282	0.866000	0.27954	0.672000	0.31204	0.383000	0.25322	GAA		PASS	0.662	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		118	339	118	339	---	---	---	---
LAMP5	24141	broad.mit.edu	37	20	9510324	9510324	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr20:9510324G>C	ENST00000246070.2	+	6	1192	c.700G>C	c.(700-702)Gaa>Caa	p.E234Q	LAMP5_ENST00000427562.2_Missense_Mutation_p.E190Q	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	234						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)		p.E234Q(1)									GGAGCAACTGGAAGAAACCTT	0.483																																						uc002wni.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(700-702)GAA>CAA		chromosome 20 open reading frame 103 precursor							114.0	92.0	99.0					20																	9510324		2203	4300	6503	SO:0001583	missense	24141					integral to membrane		g.chr20:9510324G>C	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.700G>C	20.37:g.9510324G>C	ENSP00000246070:p.Glu234Gln					C20orf103_uc010zrc.1_Missense_Mutation_p.E190Q	p.E234Q	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	929	+			234			Extracellular (Potential).		B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	c.700G>C	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137981	0.77775	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.48201	1.39;0.82	6.16	5.22	0.72569	.	0.095939	0.64402	D	0.000001	T	0.54515	0.1863	N	0.24115	0.695	0.58432	D	0.999995	D;D	0.89917	0.971;1.0	P;D	0.91635	0.725;0.999	T	0.53535	-0.8425	9	.	.	.	-23.0915	15.4265	0.75055	0.0659:0.0:0.9341:0.0	.	190;234	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	Q	234;190	ENSP00000246070:E234Q;ENSP00000406360:E190Q	.	E	+	1	0	C20orf103	9458324	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	8.934000	0.92915	1.629000	0.50426	0.650000	0.86243	GAA		PASS	0.483	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		46	87	46	87	---	---	---	---
TASP1	55617	broad.mit.edu	37	20	13509103	13509103	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr20:13509103T>C	ENST00000337743.4	-	10	971	c.851A>G	c.(850-852)tAc>tGc	p.Y284C	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	284					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)	p.Y284C(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AGCTGTGGAGTAGGGGTTATG	0.368																																						uc002woi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(850-852)TAC>TGC		taspase 1 precursor							59.0	59.0	59.0					20																	13509103		2203	4300	6503	SO:0001583	missense	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13509103T>C	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.851A>G	20.37:g.13509103T>C	ENSP00000338624:p.Tyr284Cys					TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Missense_Mutation_p.Y261C|TASP1_uc010zrj.1_RNA	p.Y284C	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN			10	968	-			284					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	37	c.851A>G	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098856	0.76870	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.92647	-3.08;-2.86	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.94712	0.8294	L	0.61218	1.895	0.80722	D	1	P;D	0.89917	0.461;1.0	B;D	0.67382	0.198;0.951	D	0.94629	0.7820	10	0.49607	T	0.09	-8.5197	14.9362	0.70957	0.0:0.0:0.0:1.0	.	284;261	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	C	261;284;261	ENSP00000338624:Y284C;ENSP00000400580:Y261C	ENSP00000338624:Y284C	Y	-	2	0	TASP1	13457103	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.315000	0.78998	2.065000	0.61736	0.533000	0.62120	TAC		PASS	0.368	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714		11	23	11	23	---	---	---	---
SOGA1	140710	broad.mit.edu	37	20	35444018	35444018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr20:35444018G>T	ENST00000357779.3	-	5	1439	c.1113C>A	c.(1111-1113)tgC>tgA	p.C371*	SOGA1_ENST00000456801.2_Nonsense_Mutation_p.C212*|SOGA1_ENST00000279034.6_Nonsense_Mutation_p.C371*|SOGA1_ENST00000237536.4_Nonsense_Mutation_p.C609*			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	371					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.C609*(3)|p.C371*(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GCGTACTCTGGCAGGAGGCGA	0.667																																						uc002xgd.1																			4	Substitution - Nonsense(4)		lung(4)		0						c.(1111-1113)TGC>TGA		hypothetical protein LOC140710 isoform 2							12.0	14.0	13.0					20																	35444018		2157	4259	6416	SO:0001587	stop_gained	140710							g.chr20:35444018G>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1113C>A	20.37:g.35444018G>T	ENSP00000350424:p.Cys371*					C20orf117_uc002xge.1_RNA	p.C371*	NM_199181	NP_954650	O94964	K0889_HUMAN			5	1440	-		Myeloproliferative disorder(115;0.00874)	371					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Nonsense_Mutation	SNP	ENST00000357779.3	37	c.1113C>A		.	.	.	.	.	.	.	.	.	.	G	42	9.285508	0.99125	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	.	.	.	4.59	3.57	0.40892	.	0.185753	0.48286	D	0.000182	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-22.432	11.7331	0.51748	0.1019:0.0:0.8981:0.0	.	.	.	.	X	609;371;212;371	.	ENSP00000237536:C609X	C	-	3	2	KIAA0889	34877432	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.826000	0.48104	2.377000	0.81083	0.561000	0.74099	TGC		PASS	0.667	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		6	11	6	11	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10952962	10952962	+	Splice_Site	SNP	T	T	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr21:10952962T>C	ENST00000361285.4	-	9	564	c.235A>G	c.(235-237)Agc>Ggc	p.S79G	TPTE_ENST00000298232.7_Splice_Site_p.S61G|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.S41G	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	79					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S61G(1)|p.S79G(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTAATCTTGCTGCTGCAAAAA	0.274																																						uc002yip.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(235-237)AGC>GGC		transmembrane phosphatase with tensin homology							35.0	35.0	35.0					21																	10952962		2199	4280	6479	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10952962T>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.234-1A>G	21.37:g.10952962T>C						TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.S61G|TPTE_uc002yir.1_Missense_Mutation_p.S41G|TPTE_uc010gkv.1_5'UTR	p.S79G	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	9	603	-			79					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.235A>G	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	9.241	1.038388	0.19669	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.94793	-3.31;-3.52;-3.4	1.8	0.549	0.17213	.	0.987887	0.08215	U	0.980108	D	0.87152	0.6106	L	0.27053	0.805	0.09310	N	1	P;B;B	0.36837	0.571;0.341;0.231	B;B;B	0.33960	0.173;0.12;0.055	T	0.77300	-0.2639	10	0.25106	T	0.35	-0.3778	4.6922	0.12786	0.0:0.0:0.334:0.666	.	41;61;79	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	G	61;79;41;61	ENSP00000298232:S61G;ENSP00000355208:S79G;ENSP00000344441:S41G	ENSP00000298232:S61G	S	-	1	0	TPTE	9974833	0.000000	0.05858	0.004000	0.12327	0.490000	0.33462	-0.282000	0.08445	0.144000	0.18951	0.163000	0.16589	AGC		PASS	0.274	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Missense_Mutation	12	82	12	82	---	---	---	---
HSPA13	6782	broad.mit.edu	37	21	15746135	15746135	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr21:15746135C>T	ENST00000285667.3	-	5	1286	c.1219G>A	c.(1219-1221)Ggc>Agc	p.G407S	HSPA13_ENST00000544452.1_Missense_Mutation_p.G199S	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	407						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)	p.G407S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CGAGTGGAGCCCCCAACTAAA	0.448																																						uc002yjt.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1219-1221)GGC>AGC		heat shock protein 70kDa family member 13							124.0	130.0	128.0					21																	15746135		2203	4300	6503	SO:0001583	missense	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15746135C>T		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.1219G>A	21.37:g.15746135C>T	ENSP00000285667:p.Gly407Ser					HSPA13_uc011abx.1_Missense_Mutation_p.G199S	p.G407S	NM_006948	NP_008879	P48723	HSP13_HUMAN			5	1288	-			407					B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	c.1219G>A	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	C	35	5.524835	0.96431	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.68903	-0.36;-0.36	5.65	5.65	0.86999	Heat shock protein 70, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89255	0.6663	H	0.98487	4.245	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	D	0.92817	0.6269	10	0.87932	D	0	-4.1949	20.1	0.97870	0.0:1.0:0.0:0.0	.	407	P48723	HSP13_HUMAN	S	407;199	ENSP00000285667:G407S;ENSP00000441986:G199S	ENSP00000285667:G407S	G	-	1	0	HSPA13	14668006	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.772000	0.85439	2.829000	0.97493	0.655000	0.94253	GGC		PASS	0.448	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			65	140	65	140	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35140086	35140086	+	Silent	SNP	A	A	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr21:35140086A>G	ENST00000381318.3	+	11	1284	c.996A>G	c.(994-996)gaA>gaG	p.E332E	ITSN1_ENST00000379960.5_Silent_p.E332E|ITSN1_ENST00000381285.4_Silent_p.E332E|ITSN1_ENST00000399355.2_Silent_p.E332E|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000437442.2_Silent_p.E332E|ITSN1_ENST00000399353.1_Silent_p.E295E|ITSN1_ENST00000399338.4_Silent_p.E332E|ITSN1_ENST00000381291.4_Silent_p.E332E|ITSN1_ENST00000399349.1_Silent_p.E332E|ITSN1_ENST00000399367.3_Silent_p.E332E|ITSN1_ENST00000399326.3_Silent_p.E332E|ITSN1_ENST00000399352.1_Silent_p.E332E	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	332	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E332E(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TACCAGAGGAACCAGTTTTAG	0.358																																						uc002yta.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(994-996)GAA>GAG		intersectin 1 isoform ITSN-l							81.0	79.0	80.0					21																	35140086		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35140086A>G	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.996A>G	21.37:g.35140086A>G						DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Silent_p.E332E|ITSN1_uc010gmg.2_Silent_p.E295E|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Silent_p.E332E|ITSN1_uc010gmi.2_Silent_p.E295E|ITSN1_uc010gmj.2_Silent_p.E216E|ITSN1_uc002ysy.2_Silent_p.E332E|ITSN1_uc002ysx.2_Silent_p.E295E|ITSN1_uc002ytb.1_Silent_p.E332E|ITSN1_uc002ytc.1_Silent_p.E332E|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Silent_p.E295E|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Silent_p.E332E|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Silent_p.E266E	p.E332E	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			11	1264	+			332			KLERQ.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.996A>G	CCDS33545.1																																																																																				PASS	0.358	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		22	62	22	62	---	---	---	---
TTC3	7267	broad.mit.edu	37	21	38459620	38459620	+	Silent	SNP	T	T	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr21:38459620T>A	ENST00000399017.2	+	2	2810	c.63T>A	c.(61-63)ccT>ccA	p.P21P	TTC3_ENST00000355666.1_Silent_p.P21P|TTC3_ENST00000354749.2_Silent_p.P21P|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399010.1_Silent_p.P21P|TTC3_ENST00000540756.1_Intron	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	21					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P21P(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AAGATTGCCCTCACGTGGATG	0.428																																					Ovarian(38;194 1649 35661)	uc002yvz.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(61-63)CCT>CCA		tetratricopeptide repeat domain 3							391.0	330.0	351.0					21																	38459620		2203	4300	6503	SO:0001819	synonymous_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38459620T>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.63T>A	21.37:g.38459620T>A						TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Silent_p.P21P|TTC3_uc002ywb.2_Silent_p.P21P|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Silent_p.P21P	p.P21P	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			2	168	+		Myeloproliferative disorder(46;0.0412)	21					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	c.63T>A	CCDS13651.1																																																																																				PASS	0.428	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			238	176	238	176	---	---	---	---
ITGB2	3689	broad.mit.edu	37	21	46330676	46330676	+	Silent	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr21:46330676G>A	ENST00000397850.2	-	3	474	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	ITGB2_ENST00000397852.1_Silent_p.L8L|ITGB2_ENST00000355153.4_Silent_p.L8L|ITGB2_ENST00000397854.3_Silent_p.L8L|ITGB2_ENST00000302347.5_Silent_p.L8L|ITGB2_ENST00000397846.3_Silent_p.L8L|ITGB2_ENST00000397857.1_Silent_p.L8L|ITGB2_ENST00000523126.1_5'Flank			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	8					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.L8L(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGGGCGAGCAGTGGGGGGCGC	0.662																																						uc002zgd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(3)|breast(2)	9						c.(22-24)CTG>TTG		integrin, beta 2 precursor	Simvastatin(DB00641)						37.0	42.0	40.0					21																	46330676		2202	4300	6502	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46330676G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.22C>T	21.37:g.46330676G>A						ITGB2_uc002zge.2_Silent_p.L8L|ITGB2_uc002zgf.3_Silent_p.L8L|ITGB2_uc011afl.1_5'UTR|ITGB2_uc010gpw.2_Silent_p.L8L|ITGB2_uc002zgg.2_Silent_p.L8L	p.L8L	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	1	66	-			8					B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.22C>T	CCDS13716.1																																																																																				PASS	0.662	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		11	5	11	5	---	---	---	---
PRMT2	3275	broad.mit.edu	37	21	48068521	48068521	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr21:48068521G>T	ENST00000397637.1	+	5	1433	c.479G>T	c.(478-480)cGg>cTg	p.R160L	PRMT2_ENST00000451211.2_Missense_Mutation_p.R160L|PRMT2_ENST00000397628.1_Missense_Mutation_p.R160L|PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000440086.1_Missense_Mutation_p.R160L|PRMT2_ENST00000355680.3_Missense_Mutation_p.R160L|PRMT2_ENST00000291705.6_Missense_Mutation_p.R160L|PRMT2_ENST00000458387.2_Missense_Mutation_p.R160L|PRMT2_ENST00000334494.4_Missense_Mutation_p.R160L|PRMT2_ENST00000397638.2_Missense_Mutation_p.R160L			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	160	Interaction with ESR1.|Interaction with RB1. {ECO:0000250}.|SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.R160L(2)		NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		CACTATGCGCGGCCTAGAGCG	0.577																																						uc002zjx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(478-480)CGG>CTG		HMT1 hnRNP methyltransferase-like 1							139.0	125.0	129.0					21																	48068521		2203	4300	6503	SO:0001583	missense	3275				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity	g.chr21:48068521G>T	U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"""Protein arginine methyltransferases"""	5186	protein-coding gene	gene with protein product		601961	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1"", ""HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"""	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.479G>T	21.37:g.48068521G>T	ENSP00000380759:p.Arg160Leu					PRMT2_uc002zjw.2_Missense_Mutation_p.R160L|PRMT2_uc002zjy.2_Missense_Mutation_p.R160L|PRMT2_uc010gqm.2_Missense_Mutation_p.R160L|PRMT2_uc011aga.1_Missense_Mutation_p.R160L|PRMT2_uc011agb.1_Missense_Mutation_p.R160L|PRMT2_uc011agc.1_Missense_Mutation_p.R160L|PRMT2_uc002zjz.1_Missense_Mutation_p.R46L	p.R160L	NM_206962	NP_996845	P55345	ANM2_HUMAN		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)	6	793	+	Breast(49;0.247)	Lung NSC(3;0.245)	160			Interaction with RB1 (By similarity).|Interaction with ESR1.		B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Missense_Mutation	SNP	ENST00000397637.1	37	c.479G>T	CCDS13737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.94|13.94	2.386417|2.386417	0.42308|0.42308	.|.	.|.	ENSG00000160310|ENSG00000160310	ENST00000379844;ENST00000455177|ENST00000355680;ENST00000397638;ENST00000458387;ENST00000451211;ENST00000291705;ENST00000397637;ENST00000334494;ENST00000397628;ENST00000440086	.|T;T;T;T;T;T;T;T;T	.|0.21191	.|2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02	5.05|5.05	0.453|0.453	0.16639|0.16639	.|.	.|0.548715	.|0.18843	.|N	.|0.129626	T|T	0.15869|0.15869	0.0382|0.0382	N|N	0.16743|0.16743	0.435|0.435	0.25265|0.25265	N|N	0.989567|0.989567	.|B;P;D;P;B;P	.|0.54601	.|0.064;0.793;0.967;0.756;0.088;0.458	.|B;B;P;B;B;B	.|0.49085	.|0.042;0.373;0.6;0.154;0.087;0.206	T|T	0.12268|0.12268	-1.0554|-1.0554	6|10	0.87932|0.72032	D|D	0|0.01	-16.3074|-16.3074	8.6744|8.6744	0.34170|0.34170	0.7177:0.0:0.2823:0.0|0.7177:0.0:0.2823:0.0	.|.	.|160;160;160;160;46;160	.|B7U632;B7U630;B7U631;Q498Y5;Q49AF9;P55345	.|.;.;.;.;.;ANM2_HUMAN	C|L	46;100|160	.|ENSP00000347906:R160L;ENSP00000380760:R160L;ENSP00000407463:R160L;ENSP00000411984:R160L;ENSP00000291705:R160L;ENSP00000380759:R160L;ENSP00000335490:R160L;ENSP00000380752:R160L;ENSP00000397266:R160L	ENSP00000369173:G46C|ENSP00000291705:R160L	G|R	+|+	1|2	0|0	PRMT2|PRMT2	46892949|46892949	0.541000|0.541000	0.26417|0.26417	0.049000|0.049000	0.19019|0.19019	0.006000|0.006000	0.05464|0.05464	0.857000|0.857000	0.27831|0.27831	0.146000|0.146000	0.19002|0.19002	-0.136000|-0.136000	0.14681|0.14681	GGC|CGG		PASS	0.577	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207401.1	NM_001535		40	119	40	119	---	---	---	---
PEX26	55670	broad.mit.edu	37	22	18567938	18567938	+	Missense_Mutation	SNP	C	C	T	rs149153003	byFrequency	TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr22:18567938C>T	ENST00000329627.7	+	5	934	c.728C>T	c.(727-729)gCg>gTg	p.A243V	PEX26_ENST00000428061.2_Intron|PEX26_ENST00000399744.3_Missense_Mutation_p.A243V	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	243					protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.A243V(1)		breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGGGACTCTGCGGTGAGCCAC	0.542													C|||	3	0.000599042	0.0	0.0	5008	,	,		20021	0.0		0.002	False		,,,				2504	0.001					uc002znp.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(727-729)GCG>GTG		peroxisome biogenesis factor 26		C	VAL/ALA,,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	147.0	121.0	130.0		728,,728	-2.0	0.0	22	dbSNP_134	130	15,8585	11.9+/-42.8	0,15,4285	yes	missense,intron,missense	PEX26	NM_001127649.2,NM_001199319.1,NM_017929.5	64,,64	0,17,6486	TT,TC,CC		0.1744,0.0454,0.1307	benign,,benign	243/306,,243/306	18567938	17,12989	2203	4300	6503	SO:0001583	missense	55670				protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding	g.chr22:18567938C>T	AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193			22965	protein-coding gene	gene with protein product		608666	"""peroxisome biogenesis factor 26"""			12717447, 12851857	Standard	NM_017929		Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	ENST00000329627.7:c.728C>T	22.37:g.18567938C>T	ENSP00000331106:p.Ala243Val					TUBA8_uc002znr.2_Intron|PEX26_uc002znq.3_Missense_Mutation_p.A243V|PEX26_uc002znt.2_Intron	p.A243V	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN			5	937	+			243			Cytoplasmic (Potential).		F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	Missense_Mutation	SNP	ENST00000329627.7	37	c.728C>T	CCDS13750.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.21	1.570726	0.28003	4.54E-4	0.001744	ENSG00000215193	ENST00000329627;ENST00000399744;ENST00000399746	D;D	0.93906	-3.31;-3.31	5.77	-1.98	0.07480	.	1.130330	0.06908	N	0.807127	T	0.80243	0.4587	N	0.05124	-0.11	0.09310	N	1	B	0.19583	0.037	B	0.12837	0.008	T	0.70107	-0.4963	10	0.08179	T	0.78	7.5165	5.1476	0.14993	0.0:0.3426:0.1547:0.5026	.	243	Q7Z412	PEX26_HUMAN	V	243	ENSP00000331106:A243V;ENSP00000382648:A243V	ENSP00000331106:A243V	A	+	2	0	PEX26	16947938	0.001000	0.12720	0.002000	0.10522	0.756000	0.42949	0.362000	0.20284	0.088000	0.17205	0.655000	0.94253	GCG		PASS	0.542	PEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314644.3	NM_017929		21	112	21	112	---	---	---	---
GAL3ST1	9514	broad.mit.edu	37	22	30952021	30952021	+	Missense_Mutation	SNP	C	C	A	rs527978474	byFrequency	TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr22:30952021C>A	ENST00000402321.1	-	3	508	c.191G>T	c.(190-192)cGg>cTg	p.R64L	GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R64L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R64L|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R64L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R64L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R64L|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R64L			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	64					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.R64L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCCGTTGGCCCGGATCACTGC	0.682																																						uc003aig.1																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)CGG>CTG		galactose-3-O-sulfotransferase 1							37.0	42.0	40.0					22																	30952021		2192	4282	6474	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30952021C>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.191G>T	22.37:g.30952021C>A	ENSP00000385735:p.Arg64Leu					GAL3ST1_uc003aih.1_Missense_Mutation_p.R64L|GAL3ST1_uc003aii.1_Missense_Mutation_p.R64L|GAL3ST1_uc010gvz.1_Missense_Mutation_p.R64L	p.R64L	NM_004861	NP_004852	Q99999	G3ST1_HUMAN			4	331	-			64			Lumenal (Potential).		Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.191G>T	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	C	6.588	0.476865	0.12521	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827;ENST00000437282;ENST00000416358;ENST00000427899;ENST00000423299;ENST00000443136;ENST00000423371;ENST00000428682;ENST00000453479;ENST00000426220;ENST00000447224;ENST00000411821;ENST00000445645;ENST00000448604	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46451	2.21;2.21;2.21;2.21;2.21;2.21;2.21;1.49;1.48;0.87;0.88;0.89;0.89;0.9;0.9;0.9;0.9;0.91;0.91;0.93;0.97;0.96;0.99	4.95	-1.21	0.09524	.	0.930011	0.09212	N	0.833178	T	0.29850	0.0746	L	0.41824	1.3	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24870	-1.0148	10	0.33141	T	0.24	-6.9116	6.5827	0.22605	0.2246:0.3683:0.4071:0.0	.	64	Q99999	G3ST1_HUMAN	L	64;64;64;64;64;64;64;64;65;64;64;64;65;64;64;65;64;64;64;64;64;64;64	ENSP00000385825:R64L;ENSP00000385735:R64L;ENSP00000384122:R64L;ENSP00000384388:R64L;ENSP00000343234:R64L;ENSP00000385207:R64L;ENSP00000402587:R64L;ENSP00000390545:R64L;ENSP00000395080:R65L;ENSP00000405017:R64L;ENSP00000401426:R64L;ENSP00000391485:R64L;ENSP00000397092:R65L;ENSP00000391996:R64L;ENSP00000405381:R64L;ENSP00000401074:R65L;ENSP00000389876:R64L;ENSP00000398380:R64L;ENSP00000414542:R64L;ENSP00000412995:R64L;ENSP00000394912:R64L;ENSP00000399649:R64L;ENSP00000390068:R64L	ENSP00000343234:R64L	R	-	2	0	GAL3ST1	29282021	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.472000	0.22116	-0.263000	0.09378	-0.479000	0.04858	CGG		PASS	0.682	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		22	44	22	44	---	---	---	---
EIF4ENIF1	56478	broad.mit.edu	37	22	31836783	31836783	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr22:31836783A>T	ENST00000397525.1	-	18	2846	c.2623T>A	c.(2623-2625)Tac>Aac	p.Y875N	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.Y851N|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.Y701N|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.Y530N|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.Y875N|EIF4ENIF1_ENST00000441289.1_5'Flank	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	875						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.Y875N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGTAAAGGGTAAAAGGGCTGA	0.527																																						uc003akz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2623-2625)TAC>AAC		eukaryotic translation initiation factor 4E							121.0	111.0	114.0					22																	31836783		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31836783A>T	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2623T>A	22.37:g.31836783A>T	ENSP00000380659:p.Tyr875Asn					EIF4ENIF1_uc003akx.1_Missense_Mutation_p.Y530N|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.Y555N|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.Y875N|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.Y701N|EIF4ENIF1_uc003akw.1_Missense_Mutation_p.Y365N	p.Y875N	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN			18	2787	-			875					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.2623T>A	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.405753	0.83230	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.998	D;D;D;D	0.87578	0.994;0.994;0.998;0.991	T	0.77986	-0.2381	9	0.49607	T	0.09	-10.4053	15.239	0.73452	1.0:0.0:0.0:0.0	.	701;875;700;851	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	N	701;875;875;851;530	.	ENSP00000328103:Y875N	Y	-	1	0	EIF4ENIF1	30166783	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.270000	0.78493	2.231000	0.72958	0.533000	0.62120	TAC		PASS	0.527	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		57	97	57	97	---	---	---	---
BAIAP2L2	80115	broad.mit.edu	37	22	38503901	38503901	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr22:38503901C>T	ENST00000381669.3	-	4	378	c.234G>A	c.(232-234)atG>atA	p.M78I	BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.M78I	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	78	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)	p.M78I(1)		large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					GGGTGTCAGACATCTGCACCA	0.612																																						uc003auw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(232-234)ATG>ATA		BAI1-associated protein 2-like 2							93.0	100.0	98.0					22																	38503901		2063	4209	6272	SO:0001583	missense	80115				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding	g.chr22:38503901C>T	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.234G>A	22.37:g.38503901C>T	ENSP00000371085:p.Met78Ile						p.M78I	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN			4	378	-	Melanoma(58;0.045)		78			IMD.		B0QYE2|Q96BG7	Missense_Mutation	SNP	ENST00000381669.3	37	c.234G>A	CCDS43018.1	.	.	.	.	.	.	.	.	.	.	C	3.484	-0.105360	0.06967	.	.	ENSG00000128298	ENST00000381669;ENST00000402500;ENST00000332536	.	.	.	4.33	4.33	0.51752	IRSp53/MIM homology domain (IMD) (3);	0.091468	0.85682	D	0.000000	T	0.36248	0.0960	L	0.31420	0.93	0.50813	D	0.999892	P	0.36712	0.566	B	0.35240	0.198	T	0.29058	-1.0024	9	0.02654	T	1	-30.4256	15.3673	0.74531	0.0:1.0:0.0:0.0	.	78	Q6UXY1	BI2L2_HUMAN	I	78	.	ENSP00000328876:M78I	M	-	3	0	BAIAP2L2	36833847	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	2.394000	0.44450	2.128000	0.65567	0.407000	0.27541	ATG		PASS	0.612	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		51	116	51	116	---	---	---	---
ATF4	468	broad.mit.edu	37	22	39917980	39917980	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr22:39917980T>A	ENST00000337304.2	+	2	1311	c.429T>A	c.(427-429)caT>caA	p.H143Q	ATF4_ENST00000396680.1_Missense_Mutation_p.H143Q|ATF4_ENST00000404241.2_Missense_Mutation_p.H143Q	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	143					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.H143Q(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	CAATTGGCCATCTCCCAGAAA	0.532																																						uc003axz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(427-429)CAT>CAA		activating transcription factor 4							130.0	146.0	141.0					22																	39917980		2203	4300	6503	SO:0001583	missense	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39917980T>A	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.429T>A	22.37:g.39917980T>A	ENSP00000336790:p.His143Gln					ATF4_uc011aol.1_Missense_Mutation_p.H55Q|ATF4_uc003aya.2_Missense_Mutation_p.H143Q	p.H143Q	NM_182810	NP_877962	P18848	ATF4_HUMAN			3	709	+	Melanoma(58;0.04)		143					Q9UH31	Missense_Mutation	SNP	ENST00000337304.2	37	c.429T>A	CCDS13996.1	.	.	.	.	.	.	.	.	.	.	T	8.552	0.875718	0.17395	.	.	ENSG00000128272	ENST00000404241;ENST00000337304;ENST00000396680	T;T;T	0.38560	1.13;1.13;1.13	4.74	-1.4	0.08968	.	0.679632	0.15182	N	0.276041	T	0.31513	0.0799	L	0.61036	1.89	0.20307	N	0.999919	B	0.15719	0.014	B	0.10450	0.005	T	0.37731	-0.9693	10	0.87932	D	0	-14.7783	1.1343	0.01752	0.2102:0.298:0.1148:0.377	.	143	P18848	ATF4_HUMAN	Q	143	ENSP00000384587:H143Q;ENSP00000336790:H143Q;ENSP00000379912:H143Q	ENSP00000336790:H143Q	H	+	3	2	ATF4	38247926	0.004000	0.15560	0.995000	0.50966	0.997000	0.91878	0.134000	0.15932	0.180000	0.19960	0.459000	0.35465	CAT		PASS	0.532	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		270	220	270	220	---	---	---	---
DESI1	27351	broad.mit.edu	37	22	42003316	42003316	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr22:42003316G>A	ENST00000263256.6	-	3	386	c.130C>T	c.(130-132)Cac>Tac	p.H44Y		NM_015704.2	NP_056519.1	Q6ICB0	DESI1_HUMAN	desumoylating isopeptidase 1	44	PPPDE peptidase.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)	p.H44Y(1)									TCATCCTTGTGCACAACTATG	0.493																																						uc003ban.1																			1	Substitution - Missense(1)		lung(1)		0						c.(130-132)CAC>TAC		PPPDE peptidase domain containing 2							83.0	64.0	71.0					22																	42003316		2203	4300	6503	SO:0001583	missense	27351							g.chr22:42003316G>A	AF038183	CCDS33652.1	22q13.2	2012-05-16	2012-05-16	2012-05-16	ENSG00000100418	ENSG00000100418			24577	protein-coding gene	gene with protein product		614637	"""family with sequence similarity 152, member B"", ""PPPDE peptidase domain containing 2"""	FAM152B, PPPDE2		8619474, 9110174, 22370726	Standard	NM_015704		Approved	D15Wsu75e	uc003bam.2	Q6ICB0	OTTHUMG00000044632	ENST00000263256.6:c.130C>T	22.37:g.42003316G>A	ENSP00000263256:p.His44Tyr					PPPDE2_uc011apb.1_Intron	p.H44Y	NM_015704	NP_056519	Q6ICB0	PPDE2_HUMAN			3	203	-			44			PPPDE peptidase.			Missense_Mutation	SNP	ENST00000263256.6	37	c.130C>T	CCDS33652.1	.	.	.	.	.	.	.	.	.	.	G	6.040	0.375790	0.11409	.	.	ENSG00000100418	ENST00000263256	.	.	.	5.98	5.98	0.97165	Domain of unknown function DUF862, eukaryotic (1);	0.221882	0.48767	D	0.000171	T	0.25195	0.0612	N	0.02775	-0.495	0.42333	D	0.992307	B	0.02656	0.0	B	0.08055	0.003	T	0.24835	-1.0149	9	0.02654	T	1	-11.0901	13.6313	0.62196	0.0705:0.0:0.9295:0.0	.	44	Q6ICB0	PPDE2_HUMAN	Y	44	.	ENSP00000263256:H44Y	H	-	1	0	PPPDE2	40333262	0.998000	0.40836	0.997000	0.53966	0.994000	0.84299	2.965000	0.49200	2.847000	0.97988	0.591000	0.81541	CAC		PASS	0.493	DESI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000104124.3	NM_015704		47	37	47	37	---	---	---	---
TNFRSF13C	115650	broad.mit.edu	37	22	42322214	42322214	+	Silent	SNP	G	G	T			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr22:42322214G>T	ENST00000291232.3	-	2	302	c.258C>A	c.(256-258)ggC>ggA	p.G86G	MIR378I_ENST00000582688.1_RNA	NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	86					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of germinal center formation (GO:0002636)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.G86G(1)		lung(2)|urinary_tract(1)	3						ccagtgccaggcccagcAGCG	0.786																																						uc003bbl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(256-258)GGC>GGA		BAFF receptor							7.0	8.0	8.0					22																	42322214		2004	4003	6007	SO:0001819	synonymous_variant	115650					integral to membrane	receptor activity	g.chr22:42322214G>T	AF373846	CCDS14024.1	22q13.1-q13.3	2014-09-17			ENSG00000159958	ENSG00000159958		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	17755	protein-coding gene	gene with protein product		606269				11509692	Standard	NM_052945		Approved	BAFFR, CD268	uc003bbl.2	Q96RJ3	OTTHUMG00000151271	ENST00000291232.3:c.258C>A	22.37:g.42322214G>T						WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Silent_p.G87G	p.G86G	NM_052945	NP_443177	Q96RJ3	TR13C_HUMAN			2	302	-			86			Helical; Signal-anchor for type III membrane protein; (Potential).			Silent	SNP	ENST00000291232.3	37	c.258C>A	CCDS14024.1																																																																																				PASS	0.786	TNFRSF13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322046.1			3	23	3	23	---	---	---	---
CERK	64781	broad.mit.edu	37	22	47108146	47108146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr22:47108146C>A	ENST00000216264.8	-	4	536	c.424G>T	c.(424-426)Gga>Tga	p.G142*	CERK_ENST00000541677.1_De_novo_Start_InFrame	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	142	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)	p.G142*(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGTCCTTTTCCTCCAAACGGG	0.393																																						uc003bia.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(424-426)GGA>TGA		ceramide kinase							231.0	171.0	191.0					22																	47108146		2203	4300	6503	SO:0001587	stop_gained	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47108146C>A	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.424G>T	22.37:g.47108146C>A	ENSP00000216264:p.Gly142*					CERK_uc010hae.2_Translation_Start_Site	p.G142*	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	4	531	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	142			DAGKc.		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Nonsense_Mutation	SNP	ENST00000216264.8	37	c.424G>T	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436946	0.83885	.	.	ENSG00000100422	ENST00000216264	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.3885	16.2254	0.82286	0.0:1.0:0.0:0.0	.	.	.	.	X	142	.	ENSP00000216264:G142X	G	-	1	0	CERK	45486810	1.000000	0.71417	0.549000	0.28204	0.294000	0.27393	6.700000	0.74619	2.415000	0.81967	0.563000	0.77884	GGA		PASS	0.393	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		57	60	57	60	---	---	---	---
ASB9	140462	broad.mit.edu	37	X	15268561	15268561	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chrX:15268561G>C	ENST00000380488.4	-	5	832	c.559C>G	c.(559-561)Ctg>Gtg	p.L187V	ASB9_ENST00000546332.1_Missense_Mutation_p.L187V|ASB9_ENST00000380483.3_Missense_Mutation_p.L177V|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.L187V	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	187					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)		p.L187V(2)		breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CCTGACTCCAGAAGCTTCTTG	0.388																																						uc004cwl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(559-561)CTG>GTG		ankyrin repeat and SOCS box-containing 9 isoform							80.0	79.0	79.0					X																	15268561		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15268561G>C	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.559C>G	X.37:g.15268561G>C	ENSP00000369855:p.Leu187Val					ASB9_uc004cwk.2_Missense_Mutation_p.L187V|ASB9_uc004cwm.2_Missense_Mutation_p.L177V|ASB9_uc010ner.2_Missense_Mutation_p.L187V|ASB9_uc004cwn.2_Missense_Mutation_p.L158V	p.L187V	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN			5	806	-	Hepatocellular(33;0.183)		187			ANK 5.		A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.559C>G	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959862	0.74016	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.74842	-0.88;-0.6;-0.6;-0.6	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.85673	0.5751	M	0.70903	2.155	0.80722	D	1	D;D;D;D	0.89917	1.0;0.99;1.0;1.0	D;D;D;D	0.97110	0.998;0.973;1.0;1.0	D	0.85017	0.0909	10	0.42905	T	0.14	-15.8199	17.8707	0.88810	0.0:0.0:1.0:0.0	.	158;177;187;187	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	V	177;187;187;187	ENSP00000369850:L177V;ENSP00000369852:L187V;ENSP00000369855:L187V;ENSP00000438943:L187V	ENSP00000369850:L177V	L	-	1	2	ASB9	15178482	1.000000	0.71417	0.994000	0.49952	0.787000	0.44495	5.862000	0.69560	2.440000	0.82611	0.529000	0.55759	CTG		PASS	0.388	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			90	20	90	20	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32361367	32361367	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chrX:32361367T>G	ENST00000357033.4	-	40	5829	c.5623A>C	c.(5623-5625)Att>Ctt	p.I1875L	DMD_ENST00000378677.2_Missense_Mutation_p.I1871L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1875	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.I1871L(1)|p.I534L(1)|p.I1870L(1)|p.I1875L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGATGAGAAATTTCTAGAGCC	0.393																																						uc004dda.1																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(5623-5625)ATT>CTT		dystrophin Dp427m isoform							109.0	98.0	102.0					X																	32361367		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32361367T>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5623A>C	X.37:g.32361367T>G	ENSP00000354923:p.Ile1875Leu					DMD_uc004dcw.2_Missense_Mutation_p.I531L|DMD_uc004dcx.2_Missense_Mutation_p.I534L|DMD_uc004dcz.2_Missense_Mutation_p.I1752L|DMD_uc004dcy.1_Missense_Mutation_p.I1871L|DMD_uc004ddb.1_Missense_Mutation_p.I1867L|DMD_uc010ngo.1_Intron	p.I1875L	NM_004006	NP_003997	P11532	DMD_HUMAN			40	5867	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1875			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5623A>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.566935	0.28003	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000493412	T;T;T	0.55930	0.49;0.49;0.49	5.92	5.92	0.95590	.	0.000000	0.37530	U	0.002056	T	0.53722	0.1814	N	0.14661	0.345	0.80722	D	1	D;D;D;P;P	0.62365	0.991;0.985;0.985;0.904;0.904	D;D;D;P;P	0.72625	0.978;0.952;0.952;0.847;0.847	T	0.50996	-0.8761	10	0.13108	T	0.6	.	15.2722	0.73712	0.0:0.0:0.0:1.0	.	1867;1875;1871;534;531	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	L	1867;534;531;1871;1875;1875;1752;94	ENSP00000367948:I1871L;ENSP00000354923:I1875L;ENSP00000417725:I94L	ENSP00000354923:I1875L	I	-	1	0	DMD	32271288	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.939000	0.75911	1.990000	0.58119	0.481000	0.45027	ATT		PASS	0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		76	10	76	10	---	---	---	---
PJA1	64219	broad.mit.edu	37	X	68382648	68382648	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chrX:68382648T>A	ENST00000361478.1	-	2	811	c.434A>T	c.(433-435)aAg>aTg	p.K145M	PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374571.4_Missense_Mutation_p.K90M|PJA1_ENST00000374583.1_Missense_Mutation_p.K145M|PJA1_ENST00000477231.1_5'UTR	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	145					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K145M(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ATCTTTAAACTTGCCAGTTTT	0.517																																						uc004dxh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(433-435)AAG>ATG		praja 1 isoform a							46.0	42.0	44.0					X																	68382648		2203	4300	6503	SO:0001583	missense	64219						zinc ion binding	g.chrX:68382648T>A	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.434A>T	X.37:g.68382648T>A	ENSP00000355014:p.Lys145Met					PJA1_uc011mpi.1_Translation_Start_Site|PJA1_uc004dxg.2_Intron|PJA1_uc004dxi.2_Missense_Mutation_p.K90M	p.K145M	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN			2	720	-			145					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.434A>T	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	t	16.75	3.209813	0.58343	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.15372	2.43;2.43;2.43	3.36	3.36	0.38483	.	0.287230	0.22648	U	0.057364	T	0.32285	0.0824	L	0.53249	1.67	0.32024	N	0.600375	D	0.76494	0.999	D	0.70716	0.97	T	0.33369	-0.9871	10	0.66056	D	0.02	.	9.5039	0.39035	0.0:0.0:0.0:1.0	.	145	Q8NG27	PJA1_HUMAN	M	90;145;145;90	ENSP00000363711:K145M;ENSP00000355014:K145M;ENSP00000363699:K90M	ENSP00000355014:K145M	K	-	2	0	PJA1	68299373	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.471000	0.35365	1.598000	0.50083	0.377000	0.23210	AAG		PASS	0.517	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		17	1	17	1	---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70597469	70597469	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chrX:70597469G>A	ENST00000373790.4	+	6	779	c.728G>A	c.(727-729)cGt>cAt	p.R243H	TAF1_ENST00000449580.1_Missense_Mutation_p.R243H|TAF1_ENST00000276072.3_Missense_Mutation_p.R264H|TAF1_ENST00000423759.1_Missense_Mutation_p.R264H	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	243	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R243H(1)|p.R264H(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CGTTTTCTACGTCTTTTTGGA	0.473																																						uc004dzu.3																			2	Substitution - Missense(2)		lung(2)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(727-729)CGT>CAT		TBP-associated factor 1 isoform 2							130.0	99.0	109.0					X																	70597469		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70597469G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.728G>A	X.37:g.70597469G>A	ENSP00000362895:p.Arg243His					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R264H	p.R243H	NM_138923	NP_620278	P21675	TAF1_HUMAN			6	779	+	Renal(35;0.156)	all_lung(315;0.000321)	243			Protein kinase 1.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.728G>A	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	19.27	3.795068	0.70452	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.19105	2.17;2.26;2.36;2.31	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	M	0.81497	2.545	0.80722	D	1	B;B	0.24483	0.063;0.104	B;B	0.30105	0.052;0.111	T	0.22730	-1.0208	10	0.62326	D	0.03	.	18.4193	0.90584	0.0:0.0:1.0:0.0	.	243;264	P21675;P21675-2	TAF1_HUMAN;.	H	243;243;264;264	ENSP00000362895:R243H;ENSP00000389000:R243H;ENSP00000406549:R264H;ENSP00000276072:R264H	ENSP00000276072:R264H	R	+	2	0	TAF1	70514194	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.476000	0.97823	2.377000	0.81083	0.468000	0.43344	CGT		PASS	0.473	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		17	48	17	48	---	---	---	---
SLC16A2	6567	broad.mit.edu	37	X	73740856	73740856	+	Silent	SNP	C	C	A	rs387906501		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chrX:73740856C>A	ENST00000587091.1	+	2	639	c.462C>A	c.(460-462)atC>atA	p.I154I	SLC16A2_ENST00000276033.5_Silent_p.I228I	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	154					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)	p.I228I(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TGGGTATGATCTTCTTCTGTT	0.522																																						uc004ebt.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)	3						c.(682-684)ATC>ATA		solute carrier family 16, member 2	Pyruvic acid(DB00119)						163.0	141.0	148.0					X																	73740856		2203	4300	6503	SO:0001819	synonymous_variant	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73740856C>A		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.462C>A	X.37:g.73740856C>A							p.I228I	NM_006517	NP_006508	P36021	MOT8_HUMAN			2	850	+			154			Helical; (Potential).		Q7Z797	Silent	SNP	ENST00000587091.1	37	c.684C>A	CCDS14426.2																																																																																				PASS	0.522	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			101	12	101	12	---	---	---	---
CPXCR1	53336	broad.mit.edu	37	X	88009119	88009119	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chrX:88009119C>A	ENST00000276127.4	+	3	963	c.704C>A	c.(703-705)tCt>tAt	p.S235Y	CPXCR1_ENST00000373111.1_Missense_Mutation_p.S235Y	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	235							metal ion binding (GO:0046872)	p.S235Y(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ATTGTGAGGTCTGTGCTCTTT	0.358																																						uc004efd.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(703-705)TCT>TAT		CPX chromosome region, candidate 1							61.0	49.0	53.0					X																	88009119		2203	4300	6503	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88009119C>A	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.704C>A	X.37:g.88009119C>A	ENSP00000276127:p.Ser235Tyr					CPXCR1_uc004efc.3_Missense_Mutation_p.S235Y	p.S235Y	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN			3	963	+			235					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.704C>A	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	C	8.762	0.923773	0.18056	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.26373	1.74;1.74	3.48	2.62	0.31277	.	0.173508	0.28036	N	0.016860	T	0.12561	0.0305	N	0.14661	0.345	0.09310	N	1	P	0.49447	0.924	B	0.41646	0.362	T	0.10268	-1.0637	9	.	.	.	-7.5616	5.9353	0.19163	0.0:0.8525:0.0:0.1475	.	235	Q8N123	CPXCR_HUMAN	Y	235	ENSP00000276127:S235Y;ENSP00000362203:S235Y	.	S	+	2	0	CPXCR1	87895775	0.007000	0.16637	0.002000	0.10522	0.001000	0.01503	1.704000	0.37857	0.856000	0.35383	0.594000	0.82650	TCT		PASS	0.358	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		17	4	17	4	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91090590	91090590	+	Silent	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chrX:91090590C>A	ENST00000373094.1	+	1	932	c.87C>A	c.(85-87)acC>acA	p.T29T	PCDH11X_ENST00000504220.2_Silent_p.T29T|PCDH11X_ENST00000361724.1_Silent_p.T29T|PCDH11X_ENST00000361655.2_Silent_p.T29T|PCDH11X_ENST00000298274.8_Silent_p.T29T|PCDH11X_ENST00000395337.2_Silent_p.T29T|PCDH11X_ENST00000406881.1_Silent_p.T29T|PCDH11X_ENST00000373097.1_Silent_p.T29T|PCDH11X_ENST00000373088.1_Silent_p.T29T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	29	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T29T(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAAACTACACCATCCGAGAAG	0.493																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - coding silent(3)		lung(3)	large_intestine(2)	2						c.(85-87)ACC>ACA		protocadherin 11 X-linked isoform c							138.0	104.0	116.0					X																	91090590		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090590C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.87C>A	X.37:g.91090590C>A						PCDH11X_uc004efl.1_Silent_p.T29T|PCDH11X_uc004efo.1_Silent_p.T29T|PCDH11X_uc010nmv.1_Silent_p.T29T|PCDH11X_uc004efm.1_Silent_p.T29T|PCDH11X_uc004efn.1_Silent_p.T29T|PCDH11X_uc004efh.1_Silent_p.T29T|PCDH11X_uc004efj.1_Silent_p.T29T	p.T29T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	932	+			29			Extracellular (Potential).|Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.87C>A	CCDS14461.1																																																																																				PASS	0.493	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		79	10	79	10	---	---	---	---
DCAF12L2	340578	broad.mit.edu	37	X	125298566	125298566	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chrX:125298566C>G	ENST00000360028.2	-	1	1368	c.1342G>C	c.(1342-1344)Ggg>Cgg	p.G448R	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.G448R			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	448								p.G448R(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGGAGAGGCCCCCCAGCCACA	0.562																																						uc004euk.1																			2	Substitution - Missense(2)		lung(2)	lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(1342-1344)GGG>CGG		DDB1 and CUL4 associated factor 12-like 2							76.0	81.0	79.0					X																	125298566		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298566C>G	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1342G>C	X.37:g.125298566C>G	ENSP00000353128:p.Gly448Arg						p.G448R	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	1369	-			448					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1342G>C	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.893918	0.72639	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.70869	-0.52;-0.52	3.93	3.93	0.45458	.	0.000000	0.36854	N	0.002368	D	0.82328	0.5013	M	0.73598	2.24	0.51482	D	0.999921	D	0.89917	1.0	D	0.91635	0.999	D	0.84670	0.0711	10	0.87932	D	0	.	12.9304	0.58284	0.0:1.0:0.0:0.0	.	448	Q5VW00	DC122_HUMAN	R	448	ENSP00000441489:G448R;ENSP00000353128:G448R	ENSP00000353128:G448R	G	-	1	0	DCAF12L2	125126247	1.000000	0.71417	0.844000	0.33320	0.950000	0.60333	6.814000	0.75236	2.209000	0.71365	0.600000	0.82982	GGG		PASS	0.562	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		45	14	45	14	---	---	---	---
SLITRK4	139065	broad.mit.edu	37	X	142717087	142717087	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chrX:142717087C>A	ENST00000381779.4	-	2	2063	c.1838G>T	c.(1837-1839)gGg>gTg	p.G613V	SLITRK4_ENST00000338017.4_Missense_Mutation_p.G613V|SLITRK4_ENST00000356928.1_Missense_Mutation_p.G613V	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	613						integral component of membrane (GO:0016021)		p.G613V(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCACTGGCCCACCAGGAGG	0.458																																						uc004fbx.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1837-1839)GGG>GTG		slit and trk like 4 protein precursor							83.0	84.0	84.0					X																	142717087		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717087C>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1838G>T	X.37:g.142717087C>A	ENSP00000371198:p.Gly613Val					SLITRK4_uc004fby.2_Missense_Mutation_p.G613V	p.G613V	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	2214	-	Acute lymphoblastic leukemia(192;6.56e-05)		613			Extracellular (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1838G>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119594	0.56613	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.54479	0.57;0.57;0.57	5.71	5.71	0.89125	.	0.000000	0.85682	U	0.000000	T	0.54224	0.1845	N	0.12961	0.28	0.80722	D	1	D	0.63046	0.992	D	0.62955	0.909	T	0.53570	-0.8420	10	0.27082	T	0.32	-6.6483	17.2799	0.87125	0.0:1.0:0.0:0.0	.	613	Q8IW52	SLIK4_HUMAN	V	613	ENSP00000371198:G613V;ENSP00000349400:G613V;ENSP00000336627:G613V	ENSP00000336627:G613V	G	-	2	0	SLITRK4	142544753	1.000000	0.71417	0.965000	0.40720	0.995000	0.86356	4.071000	0.57556	2.404000	0.81709	0.600000	0.82982	GGG		PASS	0.458	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		91	13	91	13	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196227362	196227362	+	Frame_Shift_Del	DEL	T	T	-			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr1:196227362delT	ENST00000294725.9	-	26	4088	c.3173delA	c.(3172-3174)aatfs	p.N1058fs	KCNT2_ENST00000367433.5_Frame_Shift_Del_p.N1034fs|KCNT2_ENST00000367431.4_Frame_Shift_Del_p.N992fs|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Frame_Shift_Del_p.N991fs|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1058					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTCATTCTATTTTTCACAAG	0.393																																						uc001gtd.1																			0				ovary(5)|breast(1)|skin(1)	7						c.(3172-3174)AATfs		potassium channel, subfamily T, member 2							109.0	113.0	112.0					1																	196227362		2203	4300	6503	SO:0001589	frameshift_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196227362delT	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3173delA	1.37:g.196227362delT	ENSP00000294725:p.Asn1058fs					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Frame_Shift_Del_p.N991fs|KCNT2_uc001gtf.1_Frame_Shift_Del_p.N1034fs|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Frame_Shift_Del_p.N562fs	p.N1058fs	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			26	3233	-			1058			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Frame_Shift_Del	DEL	ENST00000294725.9	37	c.3173delA	CCDS1384.1																																																																																					0.393	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		32	181	32	181	---	---	---	---
SNTG2	54221	broad.mit.edu	37	2	1241743	1241743	+	Frame_Shift_Del	DEL	G	G	-			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:1241743delG	ENST00000308624.5	+	10	932	c.803delG	c.(802-804)tggfs	p.W268fs	SNTG2_ENST00000407292.1_Frame_Shift_Del_p.W141fs	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	268					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GGCACCGACTGGCTGCGGGCG	0.582																																						uc002qwq.2																			0				ovary(1)|large_intestine(1)|breast(1)	3						c.(802-804)TGGfs		syntrophin, gamma 2							30.0	35.0	34.0					2																	1241743		2193	4293	6486	SO:0001589	frameshift_variant	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1241743delG	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.803delG	2.37:g.1241743delG	ENSP00000311837:p.Trp268fs					SNTG2_uc010ewi.2_Frame_Shift_Del_p.W141fs	p.W268fs	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	10	931	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	268					Q05AH5	Frame_Shift_Del	DEL	ENST00000308624.5	37	c.803delG	CCDS46220.1																																																																																					0.582	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		2	7	2	7	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179664389	179664397	+	In_Frame_Del	DEL	GCCCAGCGG	GCCCAGCGG	-			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr2:179664389_179664397delGCCCAGCGG	ENST00000591111.1	-	6	955_963	c.731_739delCCGCTGGGC	c.(730-741)gccgctgggcaa>gaa	p.244_247AAGQ>E	TTN_ENST00000359218.5_In_Frame_Del_p.244_247AAGQ>E|TTN_ENST00000460472.2_In_Frame_Del_p.244_247AAGQ>E|TTN_ENST00000342175.6_In_Frame_Del_p.244_247AAGQ>E|TTN_ENST00000342992.6_In_Frame_Del_p.244_247AAGQ>E|TTN_ENST00000589042.1_In_Frame_Del_p.244_247AAGQ>E|TTN_ENST00000360870.5_In_Frame_Del_p.244_247AAGQ>E			Q8WZ42	TITIN_HUMAN	titin	0					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)			GGCAGCTGTTGCCCAGCGGCACCATCTAT	0.493																																						uc002und.2																			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.(730-741)GCCGCTGGGCAA>GAA		Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.																																				SO:0001651	inframe_deletion	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179664389_179664397delGCCCAGCGG	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.731_739delCCGCTGGGC	2.37:g.179664389_179664397delGCCCAGCGG	ENSP00000465570:p.Ala244_Gln247delinsGlu					TTN_uc010zfg.1_In_Frame_Del_p.244_247AAGQ>E|TTN_uc010zfh.1_In_Frame_Del_p.244_247AAGQ>E|TTN_uc010zfi.1_In_Frame_Del_p.244_247AAGQ>E|TTN_uc010zfj.1_In_Frame_Del_p.244_247AAGQ>E|TTN_uc002unb.2_In_Frame_Del_p.244_247AAGQ>E	p.244_247AAGQ>E			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		6	956_964	-			244_247					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	In_Frame_Del	DEL	ENST00000591111.1	37	c.731_739delCCGCTGGGC																																																																																						0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		42	26	42	26	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14551459	14551459	+	RNA	DEL	G	G	-	rs372966894		TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:14551459delG	ENST00000273083.3	-	0	2011							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CGGCACCTGTGGTCTCCAGCT	0.592																																						uc011avi.1																			0				pancreas(1)	1						c.(2239-2241)ACCfs		glutamate receptor interacting protein 2							26.0	29.0	28.0					3																	14551459		1914	4101	6015			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14551459delG	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14551459delG						GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Frame_Shift_Del_p.T278fs	p.T747fs	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			18	2241	-			649					Q8TEH9|Q9H7H3	Frame_Shift_Del	DEL	ENST00000273083.3	37	c.2241delC																																																																																						0.592	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		4	2	4	2	---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168833655	168833656	+	Frame_Shift_Ins	INS	-	-	A			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr3:168833655_168833656insA	ENST00000464456.1	-	7	2640_2641	c.1440_1441insT	c.(1438-1443)attgctfs	p.A481fs	MECOM_ENST00000460814.1_Frame_Shift_Ins_p.A481fs|MECOM_ENST00000392736.3_Frame_Shift_Ins_p.A481fs|MECOM_ENST00000494292.1_Frame_Shift_Ins_p.A669fs|MECOM_ENST00000472280.1_Frame_Shift_Ins_p.A482fs|MECOM_ENST00000468789.1_Frame_Shift_Ins_p.A481fs|MECOM_ENST00000433243.2_Frame_Shift_Ins_p.A482fs|MECOM_ENST00000264674.3_Frame_Shift_Ins_p.A546fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TATTTTTCAGCAATAGAAGCAA	0.426																																						uc003ffi.3																			0				lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(1438-1443)ATTGCTfs		MDS1 and EVI1 complex locus isoform b																																				SO:0001589	frameshift_variant	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168833655_168833656insA	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1441dupT	3.37:g.168833657_168833657dupA	ENSP00000419770:p.Ala481fs					MECOM_uc010hwk.1_Frame_Shift_Ins_p.I503fs|MECOM_uc003ffj.3_Frame_Shift_Ins_p.I545fs|MECOM_uc011bpi.1_Frame_Shift_Ins_p.I481fs|MECOM_uc003ffn.3_Frame_Shift_Ins_p.I480fs|MECOM_uc003ffk.2_Frame_Shift_Ins_p.I480fs|MECOM_uc003ffl.2_Frame_Shift_Ins_p.I640fs|MECOM_uc011bpj.1_Frame_Shift_Ins_p.I668fs|MECOM_uc011bpk.1_Frame_Shift_Ins_p.I470fs|MECOM_uc010hwn.2_Frame_Shift_Ins_p.I668fs	p.I480fs	NM_005241	NP_005232	Q03112	EVI1_HUMAN			7	1709_1710	-			480_481					Q13466|Q6FH90	Frame_Shift_Ins	INS	ENST00000464456.1	37	c.1440_1441insT	CCDS54669.1																																																																																					0.426	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		449	216	449	216	---	---	---	---
ZNF703	80139	broad.mit.edu	37	8	37554759	37554760	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr8:37554759_37554760delGC	ENST00000331569.4	+	2	569_570	c.340_341delGC	c.(340-342)gcgfs	p.A117fs		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	117	Poly-Ala.				adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			CAACTCGGTGGCGGCGGCGGCC	0.733																																						uc003xjy.1																			0				breast(1)|pancreas(1)	2						c.(340-342)GCGfs		zinc finger protein 703																																				SO:0001589	frameshift_variant	80139				adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr8:37554759_37554760delGC	AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.340_341delGC	8.37:g.37554759_37554760delGC	ENSP00000332325:p.Ala117fs						p.A114fs	NM_025069	NP_079345	Q9H7S9	ZN703_HUMAN	BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)		2	537_538	+			114			Poly-Ala.		Q5XG76	Frame_Shift_Del	DEL	ENST00000331569.4	37	c.340_341delGC	CCDS6094.1																																																																																					0.733	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376683.2	NM_025069		7	10	7	10	---	---	---	---
OR8B8	26493	broad.mit.edu	37	11	124310284	124310284	+	Frame_Shift_Del	DEL	C	C	-			TCGA-60-2722-01A-01D-1522-08	TCGA-60-2722-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	eb955f72-83bf-4635-a7ed-89e4d66e08f4	71cfd62e-551f-4cb5-92c1-d583e1b6c941	g.chr11:124310284delC	ENST00000328064.2	-	1	770	c.698delG	c.(697-699)ggcfs	p.G233fs		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	233					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TTTGGACCTGCCCTCCGTGGA	0.463																																						uc010sal.1																			0				ovary(1)	1						c.(697-699)GGCfs		olfactory receptor, family 8, subfamily B,							141.0	127.0	132.0					11																	124310284		2201	4299	6500	SO:0001589	frameshift_variant	26493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124310284delC	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.698delG	11.37:g.124310284delC	ENSP00000330280:p.Gly233fs						p.G233fs	NM_012378	NP_036510	Q15620	OR8B8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	698	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	233			Cytoplasmic (Potential).		A1L446|Q96RC8	Frame_Shift_Del	DEL	ENST00000328064.2	37	c.698delG	CCDS8446.1																																																																																					0.463	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		33	108	33	108	---	---	---	---
